Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-06

AUTHORS

Deborah Lo Giacco, Chiara Chianese, Josvany Sánchez-Curbelo, Lluis Bassas, Patricia Ruiz, Osvaldo Rajmil, Joaquim Sarquella, Alvaro Vives, Eduard Ruiz-Castañé, Rafael Oliva, Elisabet Ars, Csilla Krausz

ABSTRACT

AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 × 10(6)/ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with ≤2 × 10(6)/ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population. More... »

PAGES

754

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2013.253

DOI

http://dx.doi.org/10.1038/ejhg.2013.253

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046951881

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24193344


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Public Health and Health Services", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Y", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Copy Number Variations", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Loci", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Testing", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infertility, Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Karyotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Oligospermia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Spain", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sperm Count", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Spermatogenesis", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain", 
            "Andrology Service, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Giacco", 
        "givenName": "Deborah Lo", 
        "id": "sg:person.016334267717.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016334267717.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Florence", 
          "id": "https://www.grid.ac/institutes/grid.8404.8", 
          "name": [
            "Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chianese", 
        "givenName": "Chiara", 
        "id": "sg:person.0765241540.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765241540.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Andrology Service, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "S\u00e1nchez-Curbelo", 
        "givenName": "Josvany", 
        "id": "sg:person.01033354740.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033354740.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Andrology Service, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bassas", 
        "givenName": "Lluis", 
        "id": "sg:person.010253575704.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010253575704.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ruiz", 
        "givenName": "Patricia", 
        "id": "sg:person.01023375317.62", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023375317.62"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Andrology Service, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rajmil", 
        "givenName": "Osvaldo", 
        "id": "sg:person.0666727203.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666727203.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Andrology Service, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sarquella", 
        "givenName": "Joaquim", 
        "id": "sg:person.01277636076.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277636076.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Andrology Service, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vives", 
        "givenName": "Alvaro", 
        "id": "sg:person.0636770535.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636770535.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Andrology Service, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ruiz-Casta\u00f1\u00e9", 
        "givenName": "Eduard", 
        "id": "sg:person.01037422646.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037422646.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital Clinic of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.410458.c", 
          "name": [
            "Human Genetics Research Group, IDIBAPS, Faculty of Medicine, University of Barcelona, Casanova 143, 08036 Barcelona, Spain", 
            "Biochemistry and Molecular Genetics Service, Clinic Hospital, Villarroel 170, 08036 Barcelona, Spain."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Oliva", 
        "givenName": "Rafael", 
        "id": "sg:person.01132643643.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132643643.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Autonomous University of Barcelona", 
          "id": "https://www.grid.ac/institutes/grid.7080.f", 
          "name": [
            "Molecular Biology Laboratory, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ars", 
        "givenName": "Elisabet", 
        "id": "sg:person.01001717654.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001717654.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Florence", 
          "id": "https://www.grid.ac/institutes/grid.8404.8", 
          "name": [
            "Andrology Service, Fundaci\u00f3 Puigvert, Universitat Aut\u00f2noma de Barcelona, Instituto de Investigaciones Biom\u00e9dicas Sant Pau (IIB-Sant Pau), Barcelona, Spain", 
            "Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krausz", 
        "givenName": "Csilla", 
        "id": "sg:person.0704055423.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0704055423.47"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/humu.21438", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001918819"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1034/j.1399-0004.2003.00128.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002960731"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.gde.2006.04.018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003972066"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humrep/deg348", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005315322"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2012.09.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005413140"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humupd/dmq046", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005607456"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf03347463", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005684004", 
          "https://doi.org/10.1007/bf03347463"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddn427", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007278177"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000184715", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008302737"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1472-6483(10)60588-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009180785"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1439-0272.2001.00406.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012337758"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/16.3.1215", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012912024"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.fertnstert.2009.09.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014153166"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humrep/deh582", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015509639"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2008.059915", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020875251"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.fertnstert.2003.06.030", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024774113"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddr119", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025608728"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1250", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026532531", 
          "https://doi.org/10.1038/ng1250"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1250", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026532531", 
          "https://doi.org/10.1038/ng1250"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20473", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026917492"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0015-0282(98)00195-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029785525"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humupd/dmq005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030094575"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humupd/dmq005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030094575"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1472-6483(10)60531-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032067518"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature01722", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032168678", 
          "https://doi.org/10.1038/nature01722"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature01722", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032168678", 
          "https://doi.org/10.1038/nature01722"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/5.7.933", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032542838"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.fertnstert.2012.03.034", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033929046"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0034902", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041098457"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.beem.2010.08.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042290440"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2007.049056", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045363626"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/j.1939-4640.2000.tb02132.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045460043"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1582-4934.2003.tb00201.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045861625"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1111/j.1745-7262.2007.00290.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047429906", 
          "https://doi.org/10.1111/j.1745-7262.2007.00290.x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humrep/17.1.17", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049064555"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.7172008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049154127"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10815-011-9633-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051197782", 
          "https://doi.org/10.1007/s10815-011-9633-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-008-0561-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052383779", 
          "https://doi.org/10.1007/s00439-008-0561-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-008-0561-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052383779", 
          "https://doi.org/10.1007/s00439-008-0561-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humrep/dep243", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053580156"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humrep/dep243", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053580156"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2605.2004.00495.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053629301"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/342928", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058639600"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2006-1981", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064289579"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.84.10.3606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064300497"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3275/7612", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1078368811"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2014-06", 
    "datePublishedReg": "2014-06-01", 
    "description": "AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 \u00d7 10(6)/ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with \u22642 \u00d7 10(6)/ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population. ", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ejhg.2013.253", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1103410", 
        "issn": [
          "1018-4813", 
          "1476-5438"
        ], 
        "name": "European Journal of Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "22"
      }
    ], 
    "name": "Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory", 
    "pagination": "754", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "dfa9a702dfebb167ebb514683f18ad207821180a17e86d8d7a603e5a6741fb6f"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "24193344"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9302235"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ejhg.2013.253"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1046951881"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ejhg.2013.253", 
      "https://app.dimensions.ai/details/publication/pub.1046951881"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T18:57", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8678_00000434.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/ejhg2013253"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2013.253'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2013.253'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2013.253'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2013.253'


 

This table displays all metadata directly associated to this object as RDF triples.

348 TRIPLES      21 PREDICATES      86 URIs      37 LITERALS      25 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ejhg.2013.253 schema:about N0dd3d0db6c6c4edb8af9f48669154d78
2 N36507ab0c32a4a57b6c9d242aaada208
3 N46e2d2f1d7314c6ab8f18c090f6c2f88
4 N49012322984f4f93aee89a0ec8b2f069
5 N51999188b6b54b3bbb05fe6dc2fc8b3c
6 N5a27d8dfe2414215b7b52ae97b32d792
7 N6dacf15b76384c648cb605f8a4ab7d45
8 N77d83b5e622e47dfa44fe74a2ad1a93b
9 N859bfc9591494247a5a766641c431011
10 N973e581f07334b27a3e49b39a2cb0559
11 N9a75e845372e4d43a65b9471d4cf96e9
12 Nbb7a3531b0174c1ab243b4166d7aaeab
13 Nca52c9f5a1fd44cd8e30b897fa6b72dc
14 Nef234b8fadd5441fad6af9c071a9c7c4
15 Nf0eaf6ef9b9c4d85981379dbb19ab680
16 Nf2d63dfdcbcc4737b3289cddadfa05b1
17 anzsrc-for:11
18 anzsrc-for:1117
19 schema:author Nde8731c699c94984b8e6d1c1360ebe8d
20 schema:citation sg:pub.10.1007/bf03347463
21 sg:pub.10.1007/s00439-008-0561-1
22 sg:pub.10.1007/s10815-011-9633-6
23 sg:pub.10.1038/nature01722
24 sg:pub.10.1038/ng1250
25 sg:pub.10.1111/j.1745-7262.2007.00290.x
26 https://doi.org/10.1002/humu.20473
27 https://doi.org/10.1002/humu.21438
28 https://doi.org/10.1002/j.1939-4640.2000.tb02132.x
29 https://doi.org/10.1016/j.ajhg.2012.09.003
30 https://doi.org/10.1016/j.beem.2010.08.006
31 https://doi.org/10.1016/j.fertnstert.2003.06.030
32 https://doi.org/10.1016/j.fertnstert.2009.09.006
33 https://doi.org/10.1016/j.fertnstert.2012.03.034
34 https://doi.org/10.1016/j.gde.2006.04.018
35 https://doi.org/10.1016/s0015-0282(98)00195-2
36 https://doi.org/10.1016/s1472-6483(10)60531-7
37 https://doi.org/10.1016/s1472-6483(10)60588-3
38 https://doi.org/10.1034/j.1399-0004.2003.00128.x
39 https://doi.org/10.1046/j.1439-0272.2001.00406.x
40 https://doi.org/10.1086/342928
41 https://doi.org/10.1093/hmg/5.7.933
42 https://doi.org/10.1093/hmg/ddn427
43 https://doi.org/10.1093/hmg/ddr119
44 https://doi.org/10.1093/humrep/17.1.17
45 https://doi.org/10.1093/humrep/deg348
46 https://doi.org/10.1093/humrep/deh582
47 https://doi.org/10.1093/humrep/dep243
48 https://doi.org/10.1093/humupd/dmq005
49 https://doi.org/10.1093/humupd/dmq046
50 https://doi.org/10.1093/nar/16.3.1215
51 https://doi.org/10.1101/gr.7172008
52 https://doi.org/10.1111/j.1365-2605.2004.00495.x
53 https://doi.org/10.1111/j.1582-4934.2003.tb00201.x
54 https://doi.org/10.1136/jmg.2007.049056
55 https://doi.org/10.1136/jmg.2008.059915
56 https://doi.org/10.1159/000184715
57 https://doi.org/10.1210/jc.2006-1981
58 https://doi.org/10.1210/jc.84.10.3606
59 https://doi.org/10.1371/journal.pone.0034902
60 https://doi.org/10.3275/7612
61 schema:datePublished 2014-06
62 schema:datePublishedReg 2014-06-01
63 schema:description AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 × 10(6)/ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with ≤2 × 10(6)/ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population.
64 schema:genre research_article
65 schema:inLanguage en
66 schema:isAccessibleForFree true
67 schema:isPartOf Nad67f4ad083b4932af3dc7e5a4793d33
68 Ncc9111add323412f88ee047e91351dee
69 sg:journal.1103410
70 schema:name Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory
71 schema:pagination 754
72 schema:productId N23f01174eee14e05a7b6dc49c8997e76
73 N2a97f9cd2b544c6e922b6ed5e7991941
74 N7d0c8aec00c349df8330dcbb1a1c155f
75 N9302f22127c640c092d6b4198770c734
76 Nb8f80023eeca467f8533bbc2e4d359c5
77 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046951881
78 https://doi.org/10.1038/ejhg.2013.253
79 schema:sdDatePublished 2019-04-10T18:57
80 schema:sdLicense https://scigraph.springernature.com/explorer/license/
81 schema:sdPublisher N5a26de0ad4154b8bba7928c5a514bfc1
82 schema:url https://www.nature.com/articles/ejhg2013253
83 sgo:license sg:explorer/license/
84 sgo:sdDataset articles
85 rdf:type schema:ScholarlyArticle
86 N0dd3d0db6c6c4edb8af9f48669154d78 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Male
88 rdf:type schema:DefinedTerm
89 N23f01174eee14e05a7b6dc49c8997e76 schema:name nlm_unique_id
90 schema:value 9302235
91 rdf:type schema:PropertyValue
92 N2a97f9cd2b544c6e922b6ed5e7991941 schema:name doi
93 schema:value 10.1038/ejhg.2013.253
94 rdf:type schema:PropertyValue
95 N36507ab0c32a4a57b6c9d242aaada208 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Genetic Testing
97 rdf:type schema:DefinedTerm
98 N3bb47eb606514987959ad0eaa441d25e rdf:first sg:person.01132643643.18
99 rdf:rest N9c8bb9d9f0cd498ca27e6e80cbecb6d1
100 N42d53949d8b84819ae62146556dcc98c rdf:first sg:person.0704055423.47
101 rdf:rest rdf:nil
102 N46c6ad5d771440fb8979f79dbe0eb79e rdf:first sg:person.01033354740.19
103 rdf:rest Ne1664d946eca490bb64a889eb6c5c907
104 N46e2d2f1d7314c6ab8f18c090f6c2f88 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Karyotype
106 rdf:type schema:DefinedTerm
107 N49012322984f4f93aee89a0ec8b2f069 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Phenotype
109 rdf:type schema:DefinedTerm
110 N51999188b6b54b3bbb05fe6dc2fc8b3c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Spermatogenesis
112 rdf:type schema:DefinedTerm
113 N5968ab27683247f1b3327ebc4ff9b614 rdf:first sg:person.01037422646.58
114 rdf:rest N3bb47eb606514987959ad0eaa441d25e
115 N5a26de0ad4154b8bba7928c5a514bfc1 schema:name Springer Nature - SN SciGraph project
116 rdf:type schema:Organization
117 N5a27d8dfe2414215b7b52ae97b32d792 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Genetic Loci
119 rdf:type schema:DefinedTerm
120 N6c52da20c38d4e11bf064871da79734a rdf:first sg:person.0666727203.63
121 rdf:rest Ndd4c386f72f54cddb70a997798b45aae
122 N6dacf15b76384c648cb605f8a4ab7d45 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
123 schema:name Spain
124 rdf:type schema:DefinedTerm
125 N77d83b5e622e47dfa44fe74a2ad1a93b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name DNA Copy Number Variations
127 rdf:type schema:DefinedTerm
128 N7d0c8aec00c349df8330dcbb1a1c155f schema:name pubmed_id
129 schema:value 24193344
130 rdf:type schema:PropertyValue
131 N859bfc9591494247a5a766641c431011 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Haplotypes
133 rdf:type schema:DefinedTerm
134 N86258e97aa3f4e578a8efc3de8cddcfb rdf:first sg:person.0636770535.38
135 rdf:rest N5968ab27683247f1b3327ebc4ff9b614
136 N8b47a4e73b8a45e6b93f62dd636a082f rdf:first sg:person.01023375317.62
137 rdf:rest N6c52da20c38d4e11bf064871da79734a
138 N9302f22127c640c092d6b4198770c734 schema:name readcube_id
139 schema:value dfa9a702dfebb167ebb514683f18ad207821180a17e86d8d7a603e5a6741fb6f
140 rdf:type schema:PropertyValue
141 N973e581f07334b27a3e49b39a2cb0559 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Sperm Count
143 rdf:type schema:DefinedTerm
144 N9a75e845372e4d43a65b9471d4cf96e9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
145 schema:name Humans
146 rdf:type schema:DefinedTerm
147 N9c8bb9d9f0cd498ca27e6e80cbecb6d1 rdf:first sg:person.01001717654.09
148 rdf:rest N42d53949d8b84819ae62146556dcc98c
149 Nad67f4ad083b4932af3dc7e5a4793d33 schema:issueNumber 6
150 rdf:type schema:PublicationIssue
151 Nb8f80023eeca467f8533bbc2e4d359c5 schema:name dimensions_id
152 schema:value pub.1046951881
153 rdf:type schema:PropertyValue
154 Nbb7a3531b0174c1ab243b4166d7aaeab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Chromosomes, Human, Y
156 rdf:type schema:DefinedTerm
157 Nca52c9f5a1fd44cd8e30b897fa6b72dc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
158 schema:name Infertility, Male
159 rdf:type schema:DefinedTerm
160 Ncc9111add323412f88ee047e91351dee schema:volumeNumber 22
161 rdf:type schema:PublicationVolume
162 Ndd4c386f72f54cddb70a997798b45aae rdf:first sg:person.01277636076.31
163 rdf:rest N86258e97aa3f4e578a8efc3de8cddcfb
164 Nde8731c699c94984b8e6d1c1360ebe8d rdf:first sg:person.016334267717.22
165 rdf:rest Nfa143383431c491e9d6e1c8d3f3a3f57
166 Ne1664d946eca490bb64a889eb6c5c907 rdf:first sg:person.010253575704.91
167 rdf:rest N8b47a4e73b8a45e6b93f62dd636a082f
168 Nef234b8fadd5441fad6af9c071a9c7c4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
169 schema:name Chromosome Deletion
170 rdf:type schema:DefinedTerm
171 Nf0eaf6ef9b9c4d85981379dbb19ab680 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
172 schema:name Genotype
173 rdf:type schema:DefinedTerm
174 Nf2d63dfdcbcc4737b3289cddadfa05b1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
175 schema:name Oligospermia
176 rdf:type schema:DefinedTerm
177 Nfa143383431c491e9d6e1c8d3f3a3f57 rdf:first sg:person.0765241540.20
178 rdf:rest N46c6ad5d771440fb8979f79dbe0eb79e
179 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
180 schema:name Medical and Health Sciences
181 rdf:type schema:DefinedTerm
182 anzsrc-for:1117 schema:inDefinedTermSet anzsrc-for:
183 schema:name Public Health and Health Services
184 rdf:type schema:DefinedTerm
185 sg:journal.1103410 schema:issn 1018-4813
186 1476-5438
187 schema:name European Journal of Human Genetics
188 rdf:type schema:Periodical
189 sg:person.01001717654.09 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
190 schema:familyName Ars
191 schema:givenName Elisabet
192 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001717654.09
193 rdf:type schema:Person
194 sg:person.01023375317.62 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
195 schema:familyName Ruiz
196 schema:givenName Patricia
197 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023375317.62
198 rdf:type schema:Person
199 sg:person.010253575704.91 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
200 schema:familyName Bassas
201 schema:givenName Lluis
202 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010253575704.91
203 rdf:type schema:Person
204 sg:person.01033354740.19 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
205 schema:familyName Sánchez-Curbelo
206 schema:givenName Josvany
207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033354740.19
208 rdf:type schema:Person
209 sg:person.01037422646.58 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
210 schema:familyName Ruiz-Castañé
211 schema:givenName Eduard
212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037422646.58
213 rdf:type schema:Person
214 sg:person.01132643643.18 schema:affiliation https://www.grid.ac/institutes/grid.410458.c
215 schema:familyName Oliva
216 schema:givenName Rafael
217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01132643643.18
218 rdf:type schema:Person
219 sg:person.01277636076.31 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
220 schema:familyName Sarquella
221 schema:givenName Joaquim
222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277636076.31
223 rdf:type schema:Person
224 sg:person.016334267717.22 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
225 schema:familyName Giacco
226 schema:givenName Deborah Lo
227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016334267717.22
228 rdf:type schema:Person
229 sg:person.0636770535.38 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
230 schema:familyName Vives
231 schema:givenName Alvaro
232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636770535.38
233 rdf:type schema:Person
234 sg:person.0666727203.63 schema:affiliation https://www.grid.ac/institutes/grid.7080.f
235 schema:familyName Rajmil
236 schema:givenName Osvaldo
237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666727203.63
238 rdf:type schema:Person
239 sg:person.0704055423.47 schema:affiliation https://www.grid.ac/institutes/grid.8404.8
240 schema:familyName Krausz
241 schema:givenName Csilla
242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0704055423.47
243 rdf:type schema:Person
244 sg:person.0765241540.20 schema:affiliation https://www.grid.ac/institutes/grid.8404.8
245 schema:familyName Chianese
246 schema:givenName Chiara
247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765241540.20
248 rdf:type schema:Person
249 sg:pub.10.1007/bf03347463 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005684004
250 https://doi.org/10.1007/bf03347463
251 rdf:type schema:CreativeWork
252 sg:pub.10.1007/s00439-008-0561-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052383779
253 https://doi.org/10.1007/s00439-008-0561-1
254 rdf:type schema:CreativeWork
255 sg:pub.10.1007/s10815-011-9633-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051197782
256 https://doi.org/10.1007/s10815-011-9633-6
257 rdf:type schema:CreativeWork
258 sg:pub.10.1038/nature01722 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032168678
259 https://doi.org/10.1038/nature01722
260 rdf:type schema:CreativeWork
261 sg:pub.10.1038/ng1250 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026532531
262 https://doi.org/10.1038/ng1250
263 rdf:type schema:CreativeWork
264 sg:pub.10.1111/j.1745-7262.2007.00290.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1047429906
265 https://doi.org/10.1111/j.1745-7262.2007.00290.x
266 rdf:type schema:CreativeWork
267 https://doi.org/10.1002/humu.20473 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026917492
268 rdf:type schema:CreativeWork
269 https://doi.org/10.1002/humu.21438 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001918819
270 rdf:type schema:CreativeWork
271 https://doi.org/10.1002/j.1939-4640.2000.tb02132.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1045460043
272 rdf:type schema:CreativeWork
273 https://doi.org/10.1016/j.ajhg.2012.09.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005413140
274 rdf:type schema:CreativeWork
275 https://doi.org/10.1016/j.beem.2010.08.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042290440
276 rdf:type schema:CreativeWork
277 https://doi.org/10.1016/j.fertnstert.2003.06.030 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024774113
278 rdf:type schema:CreativeWork
279 https://doi.org/10.1016/j.fertnstert.2009.09.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014153166
280 rdf:type schema:CreativeWork
281 https://doi.org/10.1016/j.fertnstert.2012.03.034 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033929046
282 rdf:type schema:CreativeWork
283 https://doi.org/10.1016/j.gde.2006.04.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003972066
284 rdf:type schema:CreativeWork
285 https://doi.org/10.1016/s0015-0282(98)00195-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029785525
286 rdf:type schema:CreativeWork
287 https://doi.org/10.1016/s1472-6483(10)60531-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032067518
288 rdf:type schema:CreativeWork
289 https://doi.org/10.1016/s1472-6483(10)60588-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009180785
290 rdf:type schema:CreativeWork
291 https://doi.org/10.1034/j.1399-0004.2003.00128.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1002960731
292 rdf:type schema:CreativeWork
293 https://doi.org/10.1046/j.1439-0272.2001.00406.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1012337758
294 rdf:type schema:CreativeWork
295 https://doi.org/10.1086/342928 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058639600
296 rdf:type schema:CreativeWork
297 https://doi.org/10.1093/hmg/5.7.933 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032542838
298 rdf:type schema:CreativeWork
299 https://doi.org/10.1093/hmg/ddn427 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007278177
300 rdf:type schema:CreativeWork
301 https://doi.org/10.1093/hmg/ddr119 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025608728
302 rdf:type schema:CreativeWork
303 https://doi.org/10.1093/humrep/17.1.17 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049064555
304 rdf:type schema:CreativeWork
305 https://doi.org/10.1093/humrep/deg348 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005315322
306 rdf:type schema:CreativeWork
307 https://doi.org/10.1093/humrep/deh582 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015509639
308 rdf:type schema:CreativeWork
309 https://doi.org/10.1093/humrep/dep243 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053580156
310 rdf:type schema:CreativeWork
311 https://doi.org/10.1093/humupd/dmq005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030094575
312 rdf:type schema:CreativeWork
313 https://doi.org/10.1093/humupd/dmq046 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005607456
314 rdf:type schema:CreativeWork
315 https://doi.org/10.1093/nar/16.3.1215 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012912024
316 rdf:type schema:CreativeWork
317 https://doi.org/10.1101/gr.7172008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049154127
318 rdf:type schema:CreativeWork
319 https://doi.org/10.1111/j.1365-2605.2004.00495.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1053629301
320 rdf:type schema:CreativeWork
321 https://doi.org/10.1111/j.1582-4934.2003.tb00201.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1045861625
322 rdf:type schema:CreativeWork
323 https://doi.org/10.1136/jmg.2007.049056 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045363626
324 rdf:type schema:CreativeWork
325 https://doi.org/10.1136/jmg.2008.059915 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020875251
326 rdf:type schema:CreativeWork
327 https://doi.org/10.1159/000184715 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008302737
328 rdf:type schema:CreativeWork
329 https://doi.org/10.1210/jc.2006-1981 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064289579
330 rdf:type schema:CreativeWork
331 https://doi.org/10.1210/jc.84.10.3606 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064300497
332 rdf:type schema:CreativeWork
333 https://doi.org/10.1371/journal.pone.0034902 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041098457
334 rdf:type schema:CreativeWork
335 https://doi.org/10.3275/7612 schema:sameAs https://app.dimensions.ai/details/publication/pub.1078368811
336 rdf:type schema:CreativeWork
337 https://www.grid.ac/institutes/grid.410458.c schema:alternateName Hospital Clinic of Barcelona
338 schema:name Biochemistry and Molecular Genetics Service, Clinic Hospital, Villarroel 170, 08036 Barcelona, Spain.
339 Human Genetics Research Group, IDIBAPS, Faculty of Medicine, University of Barcelona, Casanova 143, 08036 Barcelona, Spain
340 rdf:type schema:Organization
341 https://www.grid.ac/institutes/grid.7080.f schema:alternateName Autonomous University of Barcelona
342 schema:name Andrology Service, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, Spain
343 Molecular Biology Laboratory, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, Spain
344 rdf:type schema:Organization
345 https://www.grid.ac/institutes/grid.8404.8 schema:alternateName University of Florence
346 schema:name Andrology Service, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, Spain
347 Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
348 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...