Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2001-03

AUTHORS

Dimitrios I Zafeiriou, Fabrizio Thorel, Alexander Andreou, Wim J Kleijer, Anja Raams, Victor H Garritsen, Nikolaos Gombakis, Nicolaas G J Jaspers, Stuart G Clarkson

ABSTRACT

We describe a premature, small for gestational age infant girl with micropthalmia, bilateral congenital cataracts, hearing impairment, progressive somatic and neurodevelopmental arrest, and infantile spasms. She presented a massive photosensitive reaction with erythema and blistering after minimal sun exposure, which slowly gave place to small skin cancers. Her skin fibroblasts were 10-fold more sensitive than normal to UV exposure due to a severe deficiency in nucleotide excision repair. By complementation analysis, the patient XPCS4RO was assigned to the very rare xeroderma pigmentosum (XP) group G (XP-G). One allele of her XPG gene contained a 526C→T transition that changed Gln-176 to a premature UAG stop codon. Only a minor fraction of XPG mRNA was encoded by this allele. The second, more significantly expressed XPG allele contained a 215C→A transversion. This changed the highly conserved Pro-72 to a histidine, a substitution that would be expected to seriously impair the 3′ endonuclease function of XPG in nucleotide excision repair. In cases suspected of having XP and/or early-onset Cockayne syndrome, extensive DNA repair studies should be performed to reach a correct diagnosis, thereby allowing reliable genetic counseling and prenatal diagnosis. More... »

PAGES

407-412

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-200103000-00016

DOI

http://dx.doi.org/10.1203/00006450-200103000-00016

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1026769495

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11228268


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/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cockayne Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA-Binding Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Endonucleases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nuclear Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Transcription Factors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Xeroderma Pigmentosum", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece", 
          "id": "http://www.grid.ac/institutes/grid.4793.9", 
          "name": [
            "First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zafeiriou", 
        "givenName": "Dimitrios I", 
        "id": "sg:person.014222356137.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014222356137.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Genetics and Microbiology, University Medical Centre, Geneva, Switzerland", 
          "id": "http://www.grid.ac/institutes/grid.150338.c", 
          "name": [
            "Department of Genetics and Microbiology, University Medical Centre, Geneva, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thorel", 
        "givenName": "Fabrizio", 
        "id": "sg:person.0624431425.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624431425.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Neonatology, \u201cHippokatio\u201d General Hospital, Thessaloniki, Greece", 
          "id": "http://www.grid.ac/institutes/grid.414012.2", 
          "name": [
            "Department of Neonatology, \u201cHippokatio\u201d General Hospital, Thessaloniki, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Andreou", 
        "givenName": "Alexander", 
        "id": "sg:person.01163424446.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01163424446.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Departments of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands", 
          "id": "http://www.grid.ac/institutes/grid.6906.9", 
          "name": [
            "Departments of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kleijer", 
        "givenName": "Wim J", 
        "id": "sg:person.01164266126.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164266126.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece", 
          "id": "http://www.grid.ac/institutes/grid.4793.9", 
          "name": [
            "First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Raams", 
        "givenName": "Anja", 
        "id": "sg:person.01313023750.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313023750.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Departments of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands", 
          "id": "http://www.grid.ac/institutes/grid.6906.9", 
          "name": [
            "Departments of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Garritsen", 
        "givenName": "Victor H", 
        "id": "sg:person.01256330763.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256330763.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece", 
          "id": "http://www.grid.ac/institutes/grid.4793.9", 
          "name": [
            "First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gombakis", 
        "givenName": "Nikolaos", 
        "id": "sg:person.012366163604.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012366163604.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands", 
          "id": "http://www.grid.ac/institutes/grid.6906.9", 
          "name": [
            "Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jaspers", 
        "givenName": "Nicolaas G J", 
        "id": "sg:person.07410533304.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07410533304.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Genetics and Microbiology, University Medical Centre, Geneva, Switzerland", 
          "id": "http://www.grid.ac/institutes/grid.150338.c", 
          "name": [
            "Department of Genetics and Microbiology, University Medical Centre, Geneva, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Clarkson", 
        "givenName": "Stuart G", 
        "id": "sg:person.0755476736.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755476736.00"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/363182a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011317287", 
          "https://doi.org/10.1038/363182a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/371432a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007555686", 
          "https://doi.org/10.1038/371432a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00291378", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001561202", 
          "https://doi.org/10.1007/bf00291378"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2001-03", 
    "datePublishedReg": "2001-03-01", 
    "description": "We describe a premature, small for gestational age infant girl with micropthalmia, bilateral congenital cataracts, hearing impairment, progressive somatic and neurodevelopmental arrest, and infantile spasms. She presented a massive photosensitive reaction with erythema and blistering after minimal sun exposure, which slowly gave place to small skin cancers. Her skin fibroblasts were 10-fold more sensitive than normal to UV exposure due to a severe deficiency in nucleotide excision repair. By complementation analysis, the patient XPCS4RO was assigned to the very rare xeroderma pigmentosum (XP) group G (XP-G). One allele of her XPG gene contained a 526C\u2192T transition that changed Gln-176 to a premature UAG stop codon. Only a minor fraction of XPG mRNA was encoded by this allele. The second, more significantly expressed XPG allele contained a 215C\u2192A transversion. This changed the highly conserved Pro-72 to a histidine, a substitution that would be expected to seriously impair the 3\u2032 endonuclease function of XPG in nucleotide excision repair. In cases suspected of having XP and/or early-onset Cockayne syndrome, extensive DNA repair studies should be performed to reach a correct diagnosis, thereby allowing reliable genetic counseling and prenatal diagnosis.", 
    "genre": "article", 
    "id": "sg:pub.10.1203/00006450-200103000-00016", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1007352", 
        "issn": [
          "0031-3998", 
          "1530-0447"
        ], 
        "name": "Pediatric Research", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "49"
      }
    ], 
    "keywords": [
      "xeroderma pigmentosum group G", 
      "minimal sun exposure", 
      "severe neurological involvement", 
      "bilateral congenital cataracts", 
      "early onset Cockayne syndrome", 
      "Cockayne syndrome", 
      "neurodevelopmental arrest", 
      "neurological involvement", 
      "infantile spasms", 
      "reliable genetic counseling", 
      "sun exposure", 
      "correct diagnosis", 
      "skin cancer", 
      "infant girl", 
      "XPG allele", 
      "severe deficiency", 
      "congenital cataract", 
      "nucleotide excision repair", 
      "genetic counseling", 
      "skin fibroblasts", 
      "photosensitive reaction", 
      "prenatal diagnosis", 
      "syndrome", 
      "diagnosis", 
      "XPG gene", 
      "excision repair", 
      "repair", 
      "exposure", 
      "repair studies", 
      "spasm", 
      "alleles", 
      "erythema", 
      "cancer", 
      "cataract", 
      "XPG mRNA", 
      "impairment", 
      "DNA repair studies", 
      "counseling", 
      "arrest", 
      "stop codon", 
      "infancy", 
      "micropthalmia", 
      "girls", 
      "involvement", 
      "deficiency", 
      "fibroblasts", 
      "mRNA", 
      "blistering", 
      "minor fraction", 
      "cases", 
      "XPG", 
      "genes", 
      "study", 
      "transversions", 
      "function", 
      "fraction", 
      "endonuclease function", 
      "analysis", 
      "features", 
      "histidine", 
      "codon", 
      "UAG stop codon", 
      "group G", 
      "reaction", 
      "substitution", 
      "XP", 
      "complementation analysis", 
      "place", 
      "transition"
    ], 
    "name": "Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy", 
    "pagination": "407-412", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1026769495"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1203/00006450-200103000-00016"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "11228268"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1203/00006450-200103000-00016", 
      "https://app.dimensions.ai/details/publication/pub.1026769495"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-11-24T20:49", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221124/entities/gbq_results/article/article_307.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1203/00006450-200103000-00016"
  }
]
 

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.10.1203/00006450-200103000-00016'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1203/00006450-200103000-00016'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1203/00006450-200103000-00016'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1203/00006450-200103000-00016'


 

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

253 TRIPLES      21 PREDICATES      109 URIs      98 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1203/00006450-200103000-00016 schema:about N2c107d77cc4c42ca90db994a025c3ddd
2 N377bed9c38144484aa6b90c8f8f86173
3 N6dafda35ceac4c9e9c399043f2c241c6
4 N7fb5ee3fe41e4020ac1e64548d4a3df6
5 N84bcc382b8ab4ebda3c8deb45db2380f
6 N9bf2cdd216e24eed8142ca805c9532ab
7 Nd8d179d7054a4497a25bcc6a32d0b35f
8 Ne03d6a2ce0754096a2a87f9ebd215dd9
9 Ne6375b299b1d4affaf68696f71a88db7
10 Ne821d83546414d5e9d8bfdc91085ed29
11 Neede2ca8fc9544409d2d19fb08effe1a
12 anzsrc-for:11
13 anzsrc-for:1103
14 schema:author N4db7a3b044dd43a6b6dc1361d6752624
15 schema:citation sg:pub.10.1007/bf00291378
16 sg:pub.10.1038/363182a0
17 sg:pub.10.1038/371432a0
18 schema:datePublished 2001-03
19 schema:datePublishedReg 2001-03-01
20 schema:description We describe a premature, small for gestational age infant girl with micropthalmia, bilateral congenital cataracts, hearing impairment, progressive somatic and neurodevelopmental arrest, and infantile spasms. She presented a massive photosensitive reaction with erythema and blistering after minimal sun exposure, which slowly gave place to small skin cancers. Her skin fibroblasts were 10-fold more sensitive than normal to UV exposure due to a severe deficiency in nucleotide excision repair. By complementation analysis, the patient XPCS4RO was assigned to the very rare xeroderma pigmentosum (XP) group G (XP-G). One allele of her XPG gene contained a 526C→T transition that changed Gln-176 to a premature UAG stop codon. Only a minor fraction of XPG mRNA was encoded by this allele. The second, more significantly expressed XPG allele contained a 215C→A transversion. This changed the highly conserved Pro-72 to a histidine, a substitution that would be expected to seriously impair the 3′ endonuclease function of XPG in nucleotide excision repair. In cases suspected of having XP and/or early-onset Cockayne syndrome, extensive DNA repair studies should be performed to reach a correct diagnosis, thereby allowing reliable genetic counseling and prenatal diagnosis.
21 schema:genre article
22 schema:isAccessibleForFree true
23 schema:isPartOf Naca6baf45b9b453fbe84f17e0a233a85
24 Nc880594514ed450bbd069034e6a967fa
25 sg:journal.1007352
26 schema:keywords Cockayne syndrome
27 DNA repair studies
28 UAG stop codon
29 XP
30 XPG
31 XPG allele
32 XPG gene
33 XPG mRNA
34 alleles
35 analysis
36 arrest
37 bilateral congenital cataracts
38 blistering
39 cancer
40 cases
41 cataract
42 codon
43 complementation analysis
44 congenital cataract
45 correct diagnosis
46 counseling
47 deficiency
48 diagnosis
49 early onset Cockayne syndrome
50 endonuclease function
51 erythema
52 excision repair
53 exposure
54 features
55 fibroblasts
56 fraction
57 function
58 genes
59 genetic counseling
60 girls
61 group G
62 histidine
63 impairment
64 infancy
65 infant girl
66 infantile spasms
67 involvement
68 mRNA
69 micropthalmia
70 minimal sun exposure
71 minor fraction
72 neurodevelopmental arrest
73 neurological involvement
74 nucleotide excision repair
75 photosensitive reaction
76 place
77 prenatal diagnosis
78 reaction
79 reliable genetic counseling
80 repair
81 repair studies
82 severe deficiency
83 severe neurological involvement
84 skin cancer
85 skin fibroblasts
86 spasm
87 stop codon
88 study
89 substitution
90 sun exposure
91 syndrome
92 transition
93 transversions
94 xeroderma pigmentosum group G
95 schema:name Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy
96 schema:pagination 407-412
97 schema:productId N3edca1d26e184dcab19c51968384e757
98 N6d7766e76e524d51a45075b99a1f1e3e
99 N7e891fe7b07844cf9bfccccb0c8b942f
100 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026769495
101 https://doi.org/10.1203/00006450-200103000-00016
102 schema:sdDatePublished 2022-11-24T20:49
103 schema:sdLicense https://scigraph.springernature.com/explorer/license/
104 schema:sdPublisher N1d82a8988e56410ba0ca2b8a5fef49a3
105 schema:url https://doi.org/10.1203/00006450-200103000-00016
106 sgo:license sg:explorer/license/
107 sgo:sdDataset articles
108 rdf:type schema:ScholarlyArticle
109 N1d82a8988e56410ba0ca2b8a5fef49a3 schema:name Springer Nature - SN SciGraph project
110 rdf:type schema:Organization
111 N2c107d77cc4c42ca90db994a025c3ddd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name DNA-Binding Proteins
113 rdf:type schema:DefinedTerm
114 N2dc44e48b9914ba986cdc7cef06e3a25 rdf:first sg:person.07410533304.09
115 rdf:rest N4f1cdd9ad0ad4a21a1106fffda59aa25
116 N377bed9c38144484aa6b90c8f8f86173 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Transcription Factors
118 rdf:type schema:DefinedTerm
119 N3edca1d26e184dcab19c51968384e757 schema:name dimensions_id
120 schema:value pub.1026769495
121 rdf:type schema:PropertyValue
122 N4db7a3b044dd43a6b6dc1361d6752624 rdf:first sg:person.014222356137.00
123 rdf:rest N9f3a51bc4f1248f995102887d76a32ba
124 N4f1cdd9ad0ad4a21a1106fffda59aa25 rdf:first sg:person.0755476736.00
125 rdf:rest rdf:nil
126 N565ffc5080394e7d8dbfa154cb894fcb rdf:first sg:person.01164266126.41
127 rdf:rest N9566b04d7f3449d38706f710ef62bfd6
128 N6d7766e76e524d51a45075b99a1f1e3e schema:name pubmed_id
129 schema:value 11228268
130 rdf:type schema:PropertyValue
131 N6dafda35ceac4c9e9c399043f2c241c6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Alleles
133 rdf:type schema:DefinedTerm
134 N7e891fe7b07844cf9bfccccb0c8b942f schema:name doi
135 schema:value 10.1203/00006450-200103000-00016
136 rdf:type schema:PropertyValue
137 N7fb5ee3fe41e4020ac1e64548d4a3df6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Endonucleases
139 rdf:type schema:DefinedTerm
140 N8492bd9401e04238aabd5e5509e73711 rdf:first sg:person.012366163604.38
141 rdf:rest N2dc44e48b9914ba986cdc7cef06e3a25
142 N84bcc382b8ab4ebda3c8deb45db2380f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Infant
144 rdf:type schema:DefinedTerm
145 N9566b04d7f3449d38706f710ef62bfd6 rdf:first sg:person.01313023750.83
146 rdf:rest Nd8ffdb1006134fceb1a2a222e0c19927
147 N9bf2cdd216e24eed8142ca805c9532ab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
148 schema:name Nuclear Proteins
149 rdf:type schema:DefinedTerm
150 N9f3a51bc4f1248f995102887d76a32ba rdf:first sg:person.0624431425.38
151 rdf:rest Nb9990b09225a4e85999e05076ef88ce3
152 Naca6baf45b9b453fbe84f17e0a233a85 schema:issueNumber 3
153 rdf:type schema:PublicationIssue
154 Nb9990b09225a4e85999e05076ef88ce3 rdf:first sg:person.01163424446.42
155 rdf:rest N565ffc5080394e7d8dbfa154cb894fcb
156 Nc880594514ed450bbd069034e6a967fa schema:volumeNumber 49
157 rdf:type schema:PublicationVolume
158 Nd8d179d7054a4497a25bcc6a32d0b35f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
159 schema:name Female
160 rdf:type schema:DefinedTerm
161 Nd8ffdb1006134fceb1a2a222e0c19927 rdf:first sg:person.01256330763.47
162 rdf:rest N8492bd9401e04238aabd5e5509e73711
163 Ne03d6a2ce0754096a2a87f9ebd215dd9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
164 schema:name Humans
165 rdf:type schema:DefinedTerm
166 Ne6375b299b1d4affaf68696f71a88db7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
167 schema:name Mutation
168 rdf:type schema:DefinedTerm
169 Ne821d83546414d5e9d8bfdc91085ed29 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Cockayne Syndrome
171 rdf:type schema:DefinedTerm
172 Neede2ca8fc9544409d2d19fb08effe1a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Xeroderma Pigmentosum
174 rdf:type schema:DefinedTerm
175 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
176 schema:name Medical and Health Sciences
177 rdf:type schema:DefinedTerm
178 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
179 schema:name Clinical Sciences
180 rdf:type schema:DefinedTerm
181 sg:journal.1007352 schema:issn 0031-3998
182 1530-0447
183 schema:name Pediatric Research
184 schema:publisher Springer Nature
185 rdf:type schema:Periodical
186 sg:person.01163424446.42 schema:affiliation grid-institutes:grid.414012.2
187 schema:familyName Andreou
188 schema:givenName Alexander
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01163424446.42
190 rdf:type schema:Person
191 sg:person.01164266126.41 schema:affiliation grid-institutes:grid.6906.9
192 schema:familyName Kleijer
193 schema:givenName Wim J
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164266126.41
195 rdf:type schema:Person
196 sg:person.012366163604.38 schema:affiliation grid-institutes:grid.4793.9
197 schema:familyName Gombakis
198 schema:givenName Nikolaos
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012366163604.38
200 rdf:type schema:Person
201 sg:person.01256330763.47 schema:affiliation grid-institutes:grid.6906.9
202 schema:familyName Garritsen
203 schema:givenName Victor H
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256330763.47
205 rdf:type schema:Person
206 sg:person.01313023750.83 schema:affiliation grid-institutes:grid.4793.9
207 schema:familyName Raams
208 schema:givenName Anja
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313023750.83
210 rdf:type schema:Person
211 sg:person.014222356137.00 schema:affiliation grid-institutes:grid.4793.9
212 schema:familyName Zafeiriou
213 schema:givenName Dimitrios I
214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014222356137.00
215 rdf:type schema:Person
216 sg:person.0624431425.38 schema:affiliation grid-institutes:grid.150338.c
217 schema:familyName Thorel
218 schema:givenName Fabrizio
219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624431425.38
220 rdf:type schema:Person
221 sg:person.07410533304.09 schema:affiliation grid-institutes:grid.6906.9
222 schema:familyName Jaspers
223 schema:givenName Nicolaas G J
224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07410533304.09
225 rdf:type schema:Person
226 sg:person.0755476736.00 schema:affiliation grid-institutes:grid.150338.c
227 schema:familyName Clarkson
228 schema:givenName Stuart G
229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755476736.00
230 rdf:type schema:Person
231 sg:pub.10.1007/bf00291378 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001561202
232 https://doi.org/10.1007/bf00291378
233 rdf:type schema:CreativeWork
234 sg:pub.10.1038/363182a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011317287
235 https://doi.org/10.1038/363182a0
236 rdf:type schema:CreativeWork
237 sg:pub.10.1038/371432a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007555686
238 https://doi.org/10.1038/371432a0
239 rdf:type schema:CreativeWork
240 grid-institutes:grid.150338.c schema:alternateName Department of Genetics and Microbiology, University Medical Centre, Geneva, Switzerland
241 schema:name Department of Genetics and Microbiology, University Medical Centre, Geneva, Switzerland
242 rdf:type schema:Organization
243 grid-institutes:grid.414012.2 schema:alternateName Department of Neonatology, “Hippokatio” General Hospital, Thessaloniki, Greece
244 schema:name Department of Neonatology, “Hippokatio” General Hospital, Thessaloniki, Greece
245 rdf:type schema:Organization
246 grid-institutes:grid.4793.9 schema:alternateName First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece
247 schema:name First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece
248 rdf:type schema:Organization
249 grid-institutes:grid.6906.9 schema:alternateName Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
250 Departments of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
251 schema:name Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
252 Departments of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
253 rdf:type schema:Organization
 




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


...