Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao, Aihua Yin

ABSTRACT

Background: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region. Methods: 3331 individuals was recruited from June 2013 to December 2016 under an institutional review board-approved protocol of informed consent. The methylation-specific PCR was employed as a first-tier screening test. The multiplex-fluorescent-labeled STR linkage analysis was carried out to define the underlying genetic mechanisms. The chromosomal microarray analysis was employed to identify chromosomal breakpoints in confirmed cases, and to detect other chromosomal abnormalities in undiagnosed cases. Genetic counseling and recurrence risk assessment were provided to families with affected individuals. Results: The methylation-specific PCR identified 36 PWS suspected patients and 13 AS suspected patients. UBE3A sequence analysis identified another 1 patient with AS. The STR linkage analysis define the underlying genetic mechanisms. Thirty PWS patients were with paternal deletions on chromosome region 15q11-q13, 5 with isodisomic uniparental disomy and 1 with mixed segmental isodisomic/ heterodisomic uniparental disomy of maternal chromosome 15. Twelve AS patients were with maternal deletions, 1 with isodisomic uniparental disomy and 1 with UBE3A gene mutation. The chromosomal microarray analysis identified chromosomal breakpoints in confirmed cases, and detected chromosomal abnormalities in another 4 patients with clinically overlapped features but tested negative for PWS/AS. Genetic counseling was offered to all families with affected individuals. Conclusions: Identifying the disorders at early age, establishing the molecular mechanisms, carrying out treatment intervention and close monitoring can significantly improve the prognosis of PWS/AS patients. More... »

PAGES

7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13039-019-0420-x

DOI

http://dx.doi.org/10.1186/s13039-019-0420-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112216483

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30820248


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/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liu", 
        "givenName": "Chang", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Third Affiliated Hospital of Sun Yat-sen University", 
          "id": "https://www.grid.ac/institutes/grid.412558.f", 
          "name": [
            "Department of Hematology, The Third Affiliated Hospital of Sun Yat-sen University, 510630, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zhang", 
        "givenName": "Xiangzhong", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wang", 
        "givenName": "Jicheng", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zhang", 
        "givenName": "Yan", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wang", 
        "givenName": "Anshi", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lu", 
        "givenName": "Jian", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Huang", 
        "givenName": "Yanlin", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Children Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liu", 
        "givenName": "Shu", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wu", 
        "givenName": "Jing", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Du", 
        "givenName": "Li", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Department of Neonatology, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yang", 
        "givenName": "Jie", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ding", 
        "givenName": "Hongke", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liu", 
        "givenName": "Ling", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zhao", 
        "givenName": "Xin", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Guangdong Province Women and Children Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459579.3", 
          "name": [
            "Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China", 
            "Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yin", 
        "givenName": "Aihua", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1097/gim.0b013e3181def138", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004644025", 
          "https://doi.org/10.1097/gim.0b013e3181def138"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181def138", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004644025", 
          "https://doi.org/10.1097/gim.0b013e3181def138"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2005.12.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007164900"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jgg.2012.02.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010811895"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0147824", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024549126"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0147824", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024549126"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0147824", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024549126"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.c.30273", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030152259"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.c.30273", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030152259"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12887-016-0662-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034760187", 
          "https://doi.org/10.1186/s12887-016-0662-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12887-016-0662-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034760187", 
          "https://doi.org/10.1186/s12887-016-0662-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2016.05.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036587176"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000435847", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046842425"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2350-11-70", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048501115", 
          "https://doi.org/10.1186/1471-2350-11-70"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.36801", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051110919"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.21037/tp.2016.07.04", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1068835241"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.5582/irdr.2013.v2.4.123", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1073002542"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.5582/irdr.2013.v2.4.123", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1073002542"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075167306", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-12", 
    "datePublishedReg": "2019-12-01", 
    "description": "Background: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region.\nMethods: 3331 individuals was recruited from June 2013 to December 2016 under an institutional review board-approved protocol of informed consent. The methylation-specific PCR was employed as a first-tier screening test. The multiplex-fluorescent-labeled STR linkage analysis was carried out to define the underlying genetic mechanisms. The chromosomal microarray analysis was employed to identify chromosomal breakpoints in confirmed cases, and to detect other chromosomal abnormalities in undiagnosed cases. Genetic counseling and recurrence risk assessment were provided to families with affected individuals.\nResults: The methylation-specific PCR identified 36 PWS suspected patients and 13 AS suspected patients. UBE3A sequence analysis identified another 1 patient with AS. The STR linkage analysis define the underlying genetic mechanisms. Thirty PWS patients were with paternal deletions on chromosome region 15q11-q13, 5 with isodisomic uniparental disomy and 1 with mixed segmental isodisomic/ heterodisomic uniparental disomy of maternal chromosome 15. Twelve AS patients were with maternal deletions, 1 with isodisomic uniparental disomy and 1 with UBE3A gene mutation. The chromosomal microarray analysis identified chromosomal breakpoints in confirmed cases, and detected chromosomal abnormalities in another 4 patients with clinically overlapped features but tested negative for PWS/AS. Genetic counseling was offered to all families with affected individuals.\nConclusions: Identifying the disorders at early age, establishing the molecular mechanisms, carrying out treatment intervention and close monitoring can significantly improve the prognosis of PWS/AS patients.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13039-019-0420-x", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1039110", 
        "issn": [
          "1755-8166"
        ], 
        "name": "Molecular Cytogenetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "12"
      }
    ], 
    "name": "Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China", 
    "pagination": "7", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "78291111aa26ef8367a5926922577a9473c241b6a094eefc00e0bf1b3320681b"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30820248"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101317942"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13039-019-0420-x"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1112216483"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13039-019-0420-x", 
      "https://app.dimensions.ai/details/publication/pub.1112216483"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T11:21", 
    "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/v90/0000000354_0000000354/records_11726_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs13039-019-0420-x"
  }
]
 

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.10.1186/s13039-019-0420-x'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13039-019-0420-x'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13039-019-0420-x'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13039-019-0420-x'


 

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

202 TRIPLES      21 PREDICATES      42 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13039-019-0420-x schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N29970271c40541ffaaf82918eb62a5a5
4 schema:citation sg:pub.10.1097/gim.0b013e3181def138
5 sg:pub.10.1186/1471-2350-11-70
6 sg:pub.10.1186/s12887-016-0662-2
7 https://app.dimensions.ai/details/publication/pub.1075167306
8 https://doi.org/10.1002/ajmg.a.36801
9 https://doi.org/10.1002/ajmg.c.30273
10 https://doi.org/10.1016/j.ejmg.2005.12.002
11 https://doi.org/10.1016/j.ejmg.2016.05.003
12 https://doi.org/10.1016/j.jgg.2012.02.005
13 https://doi.org/10.1159/000435847
14 https://doi.org/10.1371/journal.pone.0147824
15 https://doi.org/10.21037/tp.2016.07.04
16 https://doi.org/10.5582/irdr.2013.v2.4.123
17 schema:datePublished 2019-12
18 schema:datePublishedReg 2019-12-01
19 schema:description Background: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region. Methods: 3331 individuals was recruited from June 2013 to December 2016 under an institutional review board-approved protocol of informed consent. The methylation-specific PCR was employed as a first-tier screening test. The multiplex-fluorescent-labeled STR linkage analysis was carried out to define the underlying genetic mechanisms. The chromosomal microarray analysis was employed to identify chromosomal breakpoints in confirmed cases, and to detect other chromosomal abnormalities in undiagnosed cases. Genetic counseling and recurrence risk assessment were provided to families with affected individuals. Results: The methylation-specific PCR identified 36 PWS suspected patients and 13 AS suspected patients. UBE3A sequence analysis identified another 1 patient with AS. The STR linkage analysis define the underlying genetic mechanisms. Thirty PWS patients were with paternal deletions on chromosome region 15q11-q13, 5 with isodisomic uniparental disomy and 1 with mixed segmental isodisomic/ heterodisomic uniparental disomy of maternal chromosome 15. Twelve AS patients were with maternal deletions, 1 with isodisomic uniparental disomy and 1 with UBE3A gene mutation. The chromosomal microarray analysis identified chromosomal breakpoints in confirmed cases, and detected chromosomal abnormalities in another 4 patients with clinically overlapped features but tested negative for PWS/AS. Genetic counseling was offered to all families with affected individuals. Conclusions: Identifying the disorders at early age, establishing the molecular mechanisms, carrying out treatment intervention and close monitoring can significantly improve the prognosis of PWS/AS patients.
20 schema:genre research_article
21 schema:inLanguage en
22 schema:isAccessibleForFree true
23 schema:isPartOf N29651a0aa2c44e26bb1c26e45435382b
24 N2caa3527aa28434dbdb9fdca881225df
25 sg:journal.1039110
26 schema:name Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China
27 schema:pagination 7
28 schema:productId N76642b498cdc4dd7b6ae6c07ea3c3412
29 N8303392883604372a28674c4f3efebe4
30 Na16b8a4c7427401ab93f7196a01e85df
31 Nd4f1e596defa4662806b77a8979fec57
32 Ne20080b096d440d391cb9012eb90f4ce
33 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112216483
34 https://doi.org/10.1186/s13039-019-0420-x
35 schema:sdDatePublished 2019-04-11T11:21
36 schema:sdLicense https://scigraph.springernature.com/explorer/license/
37 schema:sdPublisher N8d1257dd942848e781702b05fa1464f3
38 schema:url https://link.springer.com/10.1186%2Fs13039-019-0420-x
39 sgo:license sg:explorer/license/
40 sgo:sdDataset articles
41 rdf:type schema:ScholarlyArticle
42 N013370a2ffe74d9684e337d6434f1a69 rdf:first Na7b7206ae2dc4ab6a1168cbba31a8d10
43 rdf:rest Ne859ae2e1ee34e8c875402b971570b6c
44 N13c1148a91e64e0db7ee2546326c97e7 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
45 schema:familyName Yang
46 schema:givenName Jie
47 rdf:type schema:Person
48 N29651a0aa2c44e26bb1c26e45435382b schema:volumeNumber 12
49 rdf:type schema:PublicationVolume
50 N29970271c40541ffaaf82918eb62a5a5 rdf:first Nd9d7b1d8d409403eaf29e785b2d07716
51 rdf:rest N5dd8daea6be0465a8b57ffcb432474b0
52 N2caa3527aa28434dbdb9fdca881225df schema:issueNumber 1
53 rdf:type schema:PublicationIssue
54 N314d9c533f0d4ae295c9446504890963 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
55 schema:familyName Zhang
56 schema:givenName Yan
57 rdf:type schema:Person
58 N33960a43be7b415784eb2c7d02f31fc7 rdf:first N915395be2b4b4b78b1d22befe8190cfc
59 rdf:rest N6a14deaf31fe4a17b41d2d9597a6f549
60 N3cb70276f39e4fda82e3956e56db6137 rdf:first N7a29e75aff234eec8a36ea6476cb6d35
61 rdf:rest N7f7e06cbc6214803b6f537c29c09acdb
62 N5601e8289c93448f9d25cc14096c50ef schema:affiliation https://www.grid.ac/institutes/grid.459579.3
63 schema:familyName Lu
64 schema:givenName Jian
65 rdf:type schema:Person
66 N5dd8daea6be0465a8b57ffcb432474b0 rdf:first N9903d522bf0d4139bea6c7382584e8af
67 rdf:rest N013370a2ffe74d9684e337d6434f1a69
68 N6208d24a32704ba3b75d35d4b29dad6e rdf:first N13c1148a91e64e0db7ee2546326c97e7
69 rdf:rest N68fc9a52233f48158d3389f69312b65e
70 N68fc9a52233f48158d3389f69312b65e rdf:first Nd6289f0fcef840eb88254099caf34fc8
71 rdf:rest N33960a43be7b415784eb2c7d02f31fc7
72 N6a14deaf31fe4a17b41d2d9597a6f549 rdf:first Nd83a9ff2f80e437493fafa78234523b2
73 rdf:rest Nebfb50969a974628bb2fdba090049057
74 N6c1d0a8ca8d24f9882ea3b637a7f3b80 rdf:first Nbf525c12d55848c3a6dd50c38dc7d891
75 rdf:rest Nfee8f4bf7d444d6088e81721abd8d6f9
76 N6eee9647f97f42dca1565abc2a7a4967 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
77 schema:familyName Huang
78 schema:givenName Yanlin
79 rdf:type schema:Person
80 N75558030a10d480894130b5f5e6ddc62 rdf:first N6eee9647f97f42dca1565abc2a7a4967
81 rdf:rest Ncb98b9fc33184d71aba5774a8f8fcd24
82 N76642b498cdc4dd7b6ae6c07ea3c3412 schema:name readcube_id
83 schema:value 78291111aa26ef8367a5926922577a9473c241b6a094eefc00e0bf1b3320681b
84 rdf:type schema:PropertyValue
85 N7a29e75aff234eec8a36ea6476cb6d35 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
86 schema:familyName Wang
87 schema:givenName Anshi
88 rdf:type schema:Person
89 N7f7e06cbc6214803b6f537c29c09acdb rdf:first N5601e8289c93448f9d25cc14096c50ef
90 rdf:rest N75558030a10d480894130b5f5e6ddc62
91 N8303392883604372a28674c4f3efebe4 schema:name dimensions_id
92 schema:value pub.1112216483
93 rdf:type schema:PropertyValue
94 N880a0184c36549d0993a966d03cb1080 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
95 schema:familyName Du
96 schema:givenName Li
97 rdf:type schema:Person
98 N89a534926d4d46a18d73aff25871e87a schema:name Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China
99 rdf:type schema:Organization
100 N8a65c4fca658498292dc14bf31d11c88 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
101 schema:familyName Yin
102 schema:givenName Aihua
103 rdf:type schema:Person
104 N8d1257dd942848e781702b05fa1464f3 schema:name Springer Nature - SN SciGraph project
105 rdf:type schema:Organization
106 N915395be2b4b4b78b1d22befe8190cfc schema:affiliation https://www.grid.ac/institutes/grid.459579.3
107 schema:familyName Liu
108 schema:givenName Ling
109 rdf:type schema:Person
110 N9903d522bf0d4139bea6c7382584e8af schema:affiliation https://www.grid.ac/institutes/grid.412558.f
111 schema:familyName Zhang
112 schema:givenName Xiangzhong
113 rdf:type schema:Person
114 N9d1e837b3a1c4da8a62509bd9446ecd1 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
115 schema:familyName Liu
116 schema:givenName Shu
117 rdf:type schema:Person
118 Na16b8a4c7427401ab93f7196a01e85df schema:name pubmed_id
119 schema:value 30820248
120 rdf:type schema:PropertyValue
121 Na7b7206ae2dc4ab6a1168cbba31a8d10 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
122 schema:familyName Wang
123 schema:givenName Jicheng
124 rdf:type schema:Person
125 Nbf525c12d55848c3a6dd50c38dc7d891 schema:affiliation N89a534926d4d46a18d73aff25871e87a
126 schema:familyName Wu
127 schema:givenName Jing
128 rdf:type schema:Person
129 Ncb98b9fc33184d71aba5774a8f8fcd24 rdf:first N9d1e837b3a1c4da8a62509bd9446ecd1
130 rdf:rest N6c1d0a8ca8d24f9882ea3b637a7f3b80
131 Nd4f1e596defa4662806b77a8979fec57 schema:name nlm_unique_id
132 schema:value 101317942
133 rdf:type schema:PropertyValue
134 Nd6289f0fcef840eb88254099caf34fc8 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
135 schema:familyName Ding
136 schema:givenName Hongke
137 rdf:type schema:Person
138 Nd83a9ff2f80e437493fafa78234523b2 schema:affiliation Nfcad23f6e84443089c496a77e6f3c12b
139 schema:familyName Zhao
140 schema:givenName Xin
141 rdf:type schema:Person
142 Nd9d7b1d8d409403eaf29e785b2d07716 schema:affiliation https://www.grid.ac/institutes/grid.459579.3
143 schema:familyName Liu
144 schema:givenName Chang
145 rdf:type schema:Person
146 Ne20080b096d440d391cb9012eb90f4ce schema:name doi
147 schema:value 10.1186/s13039-019-0420-x
148 rdf:type schema:PropertyValue
149 Ne859ae2e1ee34e8c875402b971570b6c rdf:first N314d9c533f0d4ae295c9446504890963
150 rdf:rest N3cb70276f39e4fda82e3956e56db6137
151 Nebfb50969a974628bb2fdba090049057 rdf:first N8a65c4fca658498292dc14bf31d11c88
152 rdf:rest rdf:nil
153 Nfcad23f6e84443089c496a77e6f3c12b schema:name Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China
154 rdf:type schema:Organization
155 Nfee8f4bf7d444d6088e81721abd8d6f9 rdf:first N880a0184c36549d0993a966d03cb1080
156 rdf:rest N6208d24a32704ba3b75d35d4b29dad6e
157 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
158 schema:name Biological Sciences
159 rdf:type schema:DefinedTerm
160 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
161 schema:name Genetics
162 rdf:type schema:DefinedTerm
163 sg:journal.1039110 schema:issn 1755-8166
164 schema:name Molecular Cytogenetics
165 rdf:type schema:Periodical
166 sg:pub.10.1097/gim.0b013e3181def138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004644025
167 https://doi.org/10.1097/gim.0b013e3181def138
168 rdf:type schema:CreativeWork
169 sg:pub.10.1186/1471-2350-11-70 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048501115
170 https://doi.org/10.1186/1471-2350-11-70
171 rdf:type schema:CreativeWork
172 sg:pub.10.1186/s12887-016-0662-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034760187
173 https://doi.org/10.1186/s12887-016-0662-2
174 rdf:type schema:CreativeWork
175 https://app.dimensions.ai/details/publication/pub.1075167306 schema:CreativeWork
176 https://doi.org/10.1002/ajmg.a.36801 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051110919
177 rdf:type schema:CreativeWork
178 https://doi.org/10.1002/ajmg.c.30273 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030152259
179 rdf:type schema:CreativeWork
180 https://doi.org/10.1016/j.ejmg.2005.12.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007164900
181 rdf:type schema:CreativeWork
182 https://doi.org/10.1016/j.ejmg.2016.05.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036587176
183 rdf:type schema:CreativeWork
184 https://doi.org/10.1016/j.jgg.2012.02.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010811895
185 rdf:type schema:CreativeWork
186 https://doi.org/10.1159/000435847 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046842425
187 rdf:type schema:CreativeWork
188 https://doi.org/10.1371/journal.pone.0147824 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024549126
189 rdf:type schema:CreativeWork
190 https://doi.org/10.21037/tp.2016.07.04 schema:sameAs https://app.dimensions.ai/details/publication/pub.1068835241
191 rdf:type schema:CreativeWork
192 https://doi.org/10.5582/irdr.2013.v2.4.123 schema:sameAs https://app.dimensions.ai/details/publication/pub.1073002542
193 rdf:type schema:CreativeWork
194 https://www.grid.ac/institutes/grid.412558.f schema:alternateName Third Affiliated Hospital of Sun Yat-sen University
195 schema:name Department of Hematology, The Third Affiliated Hospital of Sun Yat-sen University, 510630, Guangzhou, Guangdong, China
196 rdf:type schema:Organization
197 https://www.grid.ac/institutes/grid.459579.3 schema:alternateName Guangdong Province Women and Children Hospital
198 schema:name Children Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China
199 Department of Neonatology, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China
200 Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, 510010, Guangzhou, Guangdong, China
201 Medical Genetic Center, Guangdong Women and Children Hospital, Peoples, 510010, Guangzhou, Guangdong, Republic of China
202 rdf:type schema:Organization
 




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


...