Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-04

AUTHORS

F. R. Vargas, E. Roessler, Karin Gaudenz, E. Belloni, Alexander S. Whitehead, Peader N. Kirke, James L. Mills, George Hooper, Roger E. Stevenson, Isabel Cordeiro, Patricia Correia, Temis Felix, Rani Gereige, Michael L. Cunningham, Sonia Canún, Stylianos E. Antonarakis, Tom Strachan, Lap-Chee Tsui, Stephen W. Scherer, M. Muenke

ABSTRACT

The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF More... »

PAGES

387-392

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390050709

DOI

http://dx.doi.org/10.1007/s004390050709

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050492265

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9600232


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"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 7", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cloning, Molecular", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Exons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hedgehog Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polydactyly", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymerase Chain Reaction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single-Stranded Conformational", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Promoter Regions, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sacrococcygeal Region", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Analysis, DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Thumb", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Trans-Activators", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "The Children\u2019s Hospital of Philadelphia, Division of Human  Genetics and Molecular Biology, Departments of Pediatrics  and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vargas", 
        "givenName": "F. R.", 
        "id": "sg:person.0641076405.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641076405.68"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "The Children\u2019s Hospital of Philadelphia, Division of Human  Genetics and Molecular Biology, Departments of Pediatrics  and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Roessler", 
        "givenName": "E.", 
        "id": "sg:person.01357753262.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357753262.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "The Children\u2019s Hospital of Philadelphia, Division of Human  Genetics and Molecular Biology, Departments of Pediatrics  and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gaudenz", 
        "givenName": "Karin", 
        "id": "sg:person.01175557160.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175557160.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital for Sick Children", 
          "id": "https://www.grid.ac/institutes/grid.42327.30", 
          "name": [
            "Department of Genetics, The Hospital for Sick Children,  Toronto, ON, Canada, CA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Belloni", 
        "givenName": "E.", 
        "id": "sg:person.012634732260.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012634732260.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Trinity College Dublin", 
          "id": "https://www.grid.ac/institutes/grid.8217.c", 
          "name": [
            "Trinity College Dublin, Dublin, Ireland, IE"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Whitehead", 
        "givenName": "Alexander S.", 
        "id": "sg:person.01342166340.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01342166340.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Health Research Board", 
          "id": "https://www.grid.ac/institutes/grid.413895.2", 
          "name": [
            "Health Research Board, Dublin, Ireland, IE"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kirke", 
        "givenName": "Peader N.", 
        "id": "sg:person.011137032247.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011137032247.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institute of Child Health and Human Development", 
          "id": "https://www.grid.ac/institutes/grid.420089.7", 
          "name": [
            "National Institute of Child Health and Human Development,  National Institutes of Health, Bethesda, MD, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mills", 
        "givenName": "James L.", 
        "id": "sg:person.01351732125.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351732125.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Princess Margaret Rose Orthopedic Hospital, Edinburgh,  Scotland, UK, GB"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hooper", 
        "givenName": "George", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Greenwood Genetic Center, Greenwood, SC, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stevenson", 
        "givenName": "Roger E.", 
        "id": "sg:person.014210032117.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014210032117.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital de Santa Maria", 
          "id": "https://www.grid.ac/institutes/grid.411265.5", 
          "name": [
            "Hospital Santa Maria, Lisbon, Portugal, PT"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cordeiro", 
        "givenName": "Isabel", 
        "id": "sg:person.01143272274.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143272274.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Instituto Federal Fluminense", 
          "id": "https://www.grid.ac/institutes/grid.457044.6", 
          "name": [
            "IFF-Fiocruz, Rio de Janeiro, Brazil, BR"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Correia", 
        "givenName": "Patricia", 
        "id": "sg:person.01051764730.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051764730.61"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital de Cl\u00ednicas de Porto Alegre", 
          "id": "https://www.grid.ac/institutes/grid.414449.8", 
          "name": [
            "Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil, BR"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Felix", 
        "givenName": "Temis", 
        "id": "sg:person.01352660447.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352660447.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Johns Hopkins All Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.413611.0", 
          "name": [
            "All Children\u2019s Hospital, St. Petersburg, FL, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gereige", 
        "givenName": "Rani", 
        "id": "sg:person.01325411412.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325411412.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "University of Washington, Seattle, WA, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cunningham", 
        "givenName": "Michael L.", 
        "id": "sg:person.015046552657.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015046552657.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Dr. Manuel Gea Gonz\u00e1lez General Hospital, M\u00e9xico, M\u00e9xico"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Can\u00fan", 
        "givenName": "Sonia", 
        "id": "sg:person.050257237.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.050257237.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Geneva", 
          "id": "https://www.grid.ac/institutes/grid.8591.5", 
          "name": [
            "Geneva Medical School, Geneva, Switzerland, CH"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Antonarakis", 
        "givenName": "Stylianos E.", 
        "id": "sg:person.014566311317.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014566311317.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Newcastle University", 
          "id": "https://www.grid.ac/institutes/grid.1006.7", 
          "name": [
            "University of Newcastle-upon-Tyne, UK, GB"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Strachan", 
        "givenName": "Tom", 
        "id": "sg:person.01153104667.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153104667.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital for Sick Children", 
          "id": "https://www.grid.ac/institutes/grid.42327.30", 
          "name": [
            "Department of Genetics, The Hospital for Sick Children,  Toronto, ON, Canada, CA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tsui", 
        "givenName": "Lap-Chee", 
        "id": "sg:person.01243057047.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243057047.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital for Sick Children", 
          "id": "https://www.grid.ac/institutes/grid.42327.30", 
          "name": [
            "Department of Genetics, The Hospital for Sick Children,  Toronto, ON, Canada, CA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Scherer", 
        "givenName": "Stephen W.", 
        "id": "sg:person.011066475117.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011066475117.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "The Children\u2019s Hospital of Philadelphia, Division of Human  Genetics and Molecular Biology, Departments of Pediatrics  and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Muenke", 
        "givenName": "M.", 
        "id": "sg:person.014116533117.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014116533117.09"
        ], 
        "type": "Person"
      }
    ], 
    "datePublished": "1998-04", 
    "datePublishedReg": "1998-04-01", 
    "description": "The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s004390050709", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2416212", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2684214", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2629151", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "102"
      }
    ], 
    "name": "Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly", 
    "pagination": "387-392", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "f08783c074669161084162a9bcfb76e7305ae4b136cdbabc1fad22e8b659eee3"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "9600232"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7613873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s004390050709"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1050492265"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s004390050709", 
      "https://app.dimensions.ai/details/publication/pub.1050492265"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T09:56", 
    "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/v90/0000000347_0000000347/records_89804_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs004390050709"
  }
]
 

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.10.1007/s004390050709'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s004390050709'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s004390050709'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s004390050709'


 

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

320 TRIPLES      20 PREDICATES      46 URIs      38 LITERALS      26 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s004390050709 schema:about N2283d93dbebf41918fb7c22d5b7abe39
2 N240ddf8190b2499db881e2df6ff9f009
3 N29520ac534f5479183a927856d24b248
4 N4e347a9c197d476986a4647eb74b572d
5 N5b7ca428e31741ac8e62338276740ebe
6 N7eef76f7792749db84312f39e09ad087
7 N883a4baa57bd4d2ca9ff2f5cb8025268
8 N8adada9ee51e4eebb81be56a6f4d8d19
9 N94ae17524e734756bbfeb3cb7abf60db
10 Nb73fb8d9bd2d450cacd5f22c15940f9b
11 Nbbf344aa19c849a099384ed91710398a
12 Nbfd693691d594db4b061b58694905b77
13 Nc5724f2a124b4bc1872010706867bf17
14 Nc5e6b3cb007b4c9f9988eb3bde59d862
15 Nc936d4d945b44df9be2ef637894525d3
16 Nc9518925daac45818e0c512c58af0d46
17 Ncde23f14e9984b409b199271e7ffb5bd
18 anzsrc-for:06
19 anzsrc-for:0604
20 schema:author N68f96ebcddbd4f4d93dcdbe13d43604e
21 schema:datePublished 1998-04
22 schema:datePublishedReg 1998-04-01
23 schema:description The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF
24 schema:genre research_article
25 schema:inLanguage en
26 schema:isAccessibleForFree false
27 schema:isPartOf N26865fba58974255bcfd25bace37fbab
28 N4a5dbf1a8e354233bc1ead0e30766d51
29 sg:journal.1085982
30 schema:name Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
31 schema:pagination 387-392
32 schema:productId N052d26cf73b640c580ef8c7dea1ecd24
33 N715ed463e5114cc693f060735ff9299b
34 N8efb21a8cc7d4b9b91fde559742034a0
35 Nc46e1fc5c94a4ffb8d717c1a1436ab96
36 Ndaa2caa0ef40470eb89595f3d092b6ca
37 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050492265
38 https://doi.org/10.1007/s004390050709
39 schema:sdDatePublished 2019-04-11T09:56
40 schema:sdLicense https://scigraph.springernature.com/explorer/license/
41 schema:sdPublisher Nb8df5db271ec4e22b05c4c93a1300874
42 schema:url https://link.springer.com/10.1007%2Fs004390050709
43 sgo:license sg:explorer/license/
44 sgo:sdDataset articles
45 rdf:type schema:ScholarlyArticle
46 N052d26cf73b640c580ef8c7dea1ecd24 schema:name doi
47 schema:value 10.1007/s004390050709
48 rdf:type schema:PropertyValue
49 N0ec21e88130b467eabfc7e0bd9e22367 rdf:first sg:person.050257237.20
50 rdf:rest Nd744365529b440aab4fcc2891d82335d
51 N2283d93dbebf41918fb7c22d5b7abe39 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
52 schema:name Trans-Activators
53 rdf:type schema:DefinedTerm
54 N22840f8e377641d190d63139801c887c rdf:first sg:person.014116533117.09
55 rdf:rest rdf:nil
56 N240ddf8190b2499db881e2df6ff9f009 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
57 schema:name Sequence Analysis, DNA
58 rdf:type schema:DefinedTerm
59 N26865fba58974255bcfd25bace37fbab schema:issueNumber 4
60 rdf:type schema:PublicationIssue
61 N29520ac534f5479183a927856d24b248 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
62 schema:name Proteins
63 rdf:type schema:DefinedTerm
64 N2bc5393630334f37bdd6fab03e0f0fa3 rdf:first sg:person.01051764730.61
65 rdf:rest Na6637cedaf5a4f3dbb80565a4560f1dd
66 N2c1a1accd19343bba808573b431e9be2 schema:name The Children’s Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Departments of Pediatrics and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA, US
67 rdf:type schema:Organization
68 N2c89d64edfe1494895b6167e1dca240a rdf:first sg:person.01143272274.65
69 rdf:rest N2bc5393630334f37bdd6fab03e0f0fa3
70 N3a736b2b36b041d1854a5e5f9494d91f rdf:first sg:person.01153104667.09
71 rdf:rest N516ca36d7e9b4307b5ea65d7c0604cba
72 N4181679ec65c493c8b2a3c90c44b253e rdf:first sg:person.01351732125.11
73 rdf:rest Na734f7bae2e647f5828b4dfdc1e2b548
74 N45bfdeac759448e4b5cb7c86f0fae304 rdf:first sg:person.01357753262.14
75 rdf:rest Na8d4117dff2145cbac069ee5975e375b
76 N4a5dbf1a8e354233bc1ead0e30766d51 schema:volumeNumber 102
77 rdf:type schema:PublicationVolume
78 N4e347a9c197d476986a4647eb74b572d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
79 schema:name Chromosomes, Human, Pair 7
80 rdf:type schema:DefinedTerm
81 N516ca36d7e9b4307b5ea65d7c0604cba rdf:first sg:person.01243057047.05
82 rdf:rest Ncb08aa44603f4d25a753693c05149799
83 N54c0230e007f4a32baa7ff71f0c28c99 schema:name The Children’s Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Departments of Pediatrics and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA, US
84 rdf:type schema:Organization
85 N58df0963879043278f3e2e9a3baa0cfa rdf:first sg:person.011137032247.42
86 rdf:rest N4181679ec65c493c8b2a3c90c44b253e
87 N5b7ca428e31741ac8e62338276740ebe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name Humans
89 rdf:type schema:DefinedTerm
90 N68f96ebcddbd4f4d93dcdbe13d43604e rdf:first sg:person.0641076405.68
91 rdf:rest N45bfdeac759448e4b5cb7c86f0fae304
92 N70b60a35ae604f86a9aaecc4d953b628 rdf:first sg:person.014210032117.01
93 rdf:rest N2c89d64edfe1494895b6167e1dca240a
94 N715ed463e5114cc693f060735ff9299b schema:name pubmed_id
95 schema:value 9600232
96 rdf:type schema:PropertyValue
97 N73d6bff7494e4231901519a3df544f1a rdf:first sg:person.012634732260.39
98 rdf:rest N87fe2bac144345abb063592a4d22d25e
99 N7e2c8417612c4746bbba96614ccf5ea8 schema:affiliation Nc0a486224e0744e69588ae8c77956cfc
100 schema:familyName Hooper
101 schema:givenName George
102 rdf:type schema:Person
103 N7eef76f7792749db84312f39e09ad087 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Base Sequence
105 rdf:type schema:DefinedTerm
106 N87fe2bac144345abb063592a4d22d25e rdf:first sg:person.01342166340.38
107 rdf:rest N58df0963879043278f3e2e9a3baa0cfa
108 N883a4baa57bd4d2ca9ff2f5cb8025268 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Thumb
110 rdf:type schema:DefinedTerm
111 N8adada9ee51e4eebb81be56a6f4d8d19 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Exons
113 rdf:type schema:DefinedTerm
114 N8b3363e428e54234993d9b9627aafc33 rdf:first sg:person.015046552657.14
115 rdf:rest N0ec21e88130b467eabfc7e0bd9e22367
116 N8efb21a8cc7d4b9b91fde559742034a0 schema:name readcube_id
117 schema:value f08783c074669161084162a9bcfb76e7305ae4b136cdbabc1fad22e8b659eee3
118 rdf:type schema:PropertyValue
119 N94ae17524e734756bbfeb3cb7abf60db schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Polydactyly
121 rdf:type schema:DefinedTerm
122 Na6637cedaf5a4f3dbb80565a4560f1dd rdf:first sg:person.01352660447.25
123 rdf:rest Nb0bcb200fc87423d840d8e7008d41024
124 Na734f7bae2e647f5828b4dfdc1e2b548 rdf:first N7e2c8417612c4746bbba96614ccf5ea8
125 rdf:rest N70b60a35ae604f86a9aaecc4d953b628
126 Na8d4117dff2145cbac069ee5975e375b rdf:first sg:person.01175557160.58
127 rdf:rest N73d6bff7494e4231901519a3df544f1a
128 Nac317f6a27c9444aad3438169a94928d schema:name Dr. Manuel Gea González General Hospital, México, México
129 rdf:type schema:Organization
130 Nb0b1792601834412a2f6704e3efad569 schema:name The Children’s Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Departments of Pediatrics and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA, US
131 rdf:type schema:Organization
132 Nb0bcb200fc87423d840d8e7008d41024 rdf:first sg:person.01325411412.97
133 rdf:rest N8b3363e428e54234993d9b9627aafc33
134 Nb73fb8d9bd2d450cacd5f22c15940f9b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Polymerase Chain Reaction
136 rdf:type schema:DefinedTerm
137 Nb8df5db271ec4e22b05c4c93a1300874 schema:name Springer Nature - SN SciGraph project
138 rdf:type schema:Organization
139 Nbbf344aa19c849a099384ed91710398a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Polymorphism, Single-Stranded Conformational
141 rdf:type schema:DefinedTerm
142 Nbfd693691d594db4b061b58694905b77 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Hedgehog Proteins
144 rdf:type schema:DefinedTerm
145 Nc0a486224e0744e69588ae8c77956cfc schema:name Princess Margaret Rose Orthopedic Hospital, Edinburgh, Scotland, UK, GB
146 rdf:type schema:Organization
147 Nc46e1fc5c94a4ffb8d717c1a1436ab96 schema:name dimensions_id
148 schema:value pub.1050492265
149 rdf:type schema:PropertyValue
150 Nc5724f2a124b4bc1872010706867bf17 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
151 schema:name Cloning, Molecular
152 rdf:type schema:DefinedTerm
153 Nc5e6b3cb007b4c9f9988eb3bde59d862 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Abnormalities, Multiple
155 rdf:type schema:DefinedTerm
156 Nc936d4d945b44df9be2ef637894525d3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
157 schema:name Sacrococcygeal Region
158 rdf:type schema:DefinedTerm
159 Nc9518925daac45818e0c512c58af0d46 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Promoter Regions, Genetic
161 rdf:type schema:DefinedTerm
162 Ncb08aa44603f4d25a753693c05149799 rdf:first sg:person.011066475117.55
163 rdf:rest N22840f8e377641d190d63139801c887c
164 Ncde23f14e9984b409b199271e7ffb5bd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
165 schema:name Molecular Sequence Data
166 rdf:type schema:DefinedTerm
167 Nd744365529b440aab4fcc2891d82335d rdf:first sg:person.014566311317.54
168 rdf:rest N3a736b2b36b041d1854a5e5f9494d91f
169 Ndaa2caa0ef40470eb89595f3d092b6ca schema:name nlm_unique_id
170 schema:value 7613873
171 rdf:type schema:PropertyValue
172 Ne3d6dd97f666491e883a34a4d1309cdd schema:name The Children’s Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Departments of Pediatrics and Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA, US
173 rdf:type schema:Organization
174 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
175 schema:name Biological Sciences
176 rdf:type schema:DefinedTerm
177 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
178 schema:name Genetics
179 rdf:type schema:DefinedTerm
180 sg:grant.2416212 http://pending.schema.org/fundedItem sg:pub.10.1007/s004390050709
181 rdf:type schema:MonetaryGrant
182 sg:grant.2629151 http://pending.schema.org/fundedItem sg:pub.10.1007/s004390050709
183 rdf:type schema:MonetaryGrant
184 sg:grant.2684214 http://pending.schema.org/fundedItem sg:pub.10.1007/s004390050709
185 rdf:type schema:MonetaryGrant
186 sg:journal.1085982 schema:issn 0340-6717
187 1432-1203
188 schema:name Human Genetics
189 rdf:type schema:Periodical
190 sg:person.01051764730.61 schema:affiliation https://www.grid.ac/institutes/grid.457044.6
191 schema:familyName Correia
192 schema:givenName Patricia
193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051764730.61
194 rdf:type schema:Person
195 sg:person.011066475117.55 schema:affiliation https://www.grid.ac/institutes/grid.42327.30
196 schema:familyName Scherer
197 schema:givenName Stephen W.
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011066475117.55
199 rdf:type schema:Person
200 sg:person.011137032247.42 schema:affiliation https://www.grid.ac/institutes/grid.413895.2
201 schema:familyName Kirke
202 schema:givenName Peader N.
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011137032247.42
204 rdf:type schema:Person
205 sg:person.01143272274.65 schema:affiliation https://www.grid.ac/institutes/grid.411265.5
206 schema:familyName Cordeiro
207 schema:givenName Isabel
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143272274.65
209 rdf:type schema:Person
210 sg:person.01153104667.09 schema:affiliation https://www.grid.ac/institutes/grid.1006.7
211 schema:familyName Strachan
212 schema:givenName Tom
213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153104667.09
214 rdf:type schema:Person
215 sg:person.01175557160.58 schema:affiliation Ne3d6dd97f666491e883a34a4d1309cdd
216 schema:familyName Gaudenz
217 schema:givenName Karin
218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175557160.58
219 rdf:type schema:Person
220 sg:person.01243057047.05 schema:affiliation https://www.grid.ac/institutes/grid.42327.30
221 schema:familyName Tsui
222 schema:givenName Lap-Chee
223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243057047.05
224 rdf:type schema:Person
225 sg:person.012634732260.39 schema:affiliation https://www.grid.ac/institutes/grid.42327.30
226 schema:familyName Belloni
227 schema:givenName E.
228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012634732260.39
229 rdf:type schema:Person
230 sg:person.01325411412.97 schema:affiliation https://www.grid.ac/institutes/grid.413611.0
231 schema:familyName Gereige
232 schema:givenName Rani
233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325411412.97
234 rdf:type schema:Person
235 sg:person.01342166340.38 schema:affiliation https://www.grid.ac/institutes/grid.8217.c
236 schema:familyName Whitehead
237 schema:givenName Alexander S.
238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01342166340.38
239 rdf:type schema:Person
240 sg:person.01351732125.11 schema:affiliation https://www.grid.ac/institutes/grid.420089.7
241 schema:familyName Mills
242 schema:givenName James L.
243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351732125.11
244 rdf:type schema:Person
245 sg:person.01352660447.25 schema:affiliation https://www.grid.ac/institutes/grid.414449.8
246 schema:familyName Felix
247 schema:givenName Temis
248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352660447.25
249 rdf:type schema:Person
250 sg:person.01357753262.14 schema:affiliation N2c1a1accd19343bba808573b431e9be2
251 schema:familyName Roessler
252 schema:givenName E.
253 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357753262.14
254 rdf:type schema:Person
255 sg:person.014116533117.09 schema:affiliation Nb0b1792601834412a2f6704e3efad569
256 schema:familyName Muenke
257 schema:givenName M.
258 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014116533117.09
259 rdf:type schema:Person
260 sg:person.014210032117.01 schema:affiliation https://www.grid.ac/institutes/grid.418307.9
261 schema:familyName Stevenson
262 schema:givenName Roger E.
263 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014210032117.01
264 rdf:type schema:Person
265 sg:person.014566311317.54 schema:affiliation https://www.grid.ac/institutes/grid.8591.5
266 schema:familyName Antonarakis
267 schema:givenName Stylianos E.
268 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014566311317.54
269 rdf:type schema:Person
270 sg:person.015046552657.14 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
271 schema:familyName Cunningham
272 schema:givenName Michael L.
273 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015046552657.14
274 rdf:type schema:Person
275 sg:person.050257237.20 schema:affiliation Nac317f6a27c9444aad3438169a94928d
276 schema:familyName Canún
277 schema:givenName Sonia
278 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.050257237.20
279 rdf:type schema:Person
280 sg:person.0641076405.68 schema:affiliation N54c0230e007f4a32baa7ff71f0c28c99
281 schema:familyName Vargas
282 schema:givenName F. R.
283 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641076405.68
284 rdf:type schema:Person
285 https://www.grid.ac/institutes/grid.1006.7 schema:alternateName Newcastle University
286 schema:name University of Newcastle-upon-Tyne, UK, GB
287 rdf:type schema:Organization
288 https://www.grid.ac/institutes/grid.34477.33 schema:alternateName University of Washington
289 schema:name University of Washington, Seattle, WA, USA, US
290 rdf:type schema:Organization
291 https://www.grid.ac/institutes/grid.411265.5 schema:alternateName Hospital de Santa Maria
292 schema:name Hospital Santa Maria, Lisbon, Portugal, PT
293 rdf:type schema:Organization
294 https://www.grid.ac/institutes/grid.413611.0 schema:alternateName Johns Hopkins All Children's Hospital
295 schema:name All Children’s Hospital, St. Petersburg, FL, USA, US
296 rdf:type schema:Organization
297 https://www.grid.ac/institutes/grid.413895.2 schema:alternateName Health Research Board
298 schema:name Health Research Board, Dublin, Ireland, IE
299 rdf:type schema:Organization
300 https://www.grid.ac/institutes/grid.414449.8 schema:alternateName Hospital de Clínicas de Porto Alegre
301 schema:name Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil, BR
302 rdf:type schema:Organization
303 https://www.grid.ac/institutes/grid.418307.9 schema:alternateName Greenwood Genetic Center
304 schema:name Greenwood Genetic Center, Greenwood, SC, USA, US
305 rdf:type schema:Organization
306 https://www.grid.ac/institutes/grid.420089.7 schema:alternateName National Institute of Child Health and Human Development
307 schema:name National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA, US
308 rdf:type schema:Organization
309 https://www.grid.ac/institutes/grid.42327.30 schema:alternateName Hospital for Sick Children
310 schema:name Department of Genetics, The Hospital for Sick Children, Toronto, ON, Canada, CA
311 rdf:type schema:Organization
312 https://www.grid.ac/institutes/grid.457044.6 schema:alternateName Instituto Federal Fluminense
313 schema:name IFF-Fiocruz, Rio de Janeiro, Brazil, BR
314 rdf:type schema:Organization
315 https://www.grid.ac/institutes/grid.8217.c schema:alternateName Trinity College Dublin
316 schema:name Trinity College Dublin, Dublin, Ireland, IE
317 rdf:type schema:Organization
318 https://www.grid.ac/institutes/grid.8591.5 schema:alternateName University of Geneva
319 schema:name Geneva Medical School, Geneva, Switzerland, CH
320 rdf:type schema:Organization
 




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


...