Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-04

AUTHORS

Arnaud Garnier, Stéphane Dauger, Danièle Eurin, Ida Parisi, Giancarlo Parenti, Catherine Garel, Katy Delbecque, Clarisse Baumann

ABSTRACT

Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption. More... »

PAGES

327-331

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00431-006-0239-4

DOI

http://dx.doi.org/10.1007/s00431-006-0239-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035664748

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16937129


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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abortion, Therapeutic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cervical Vertebrae", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chondrodysplasia Punctata", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fatal Outcome", 
        "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, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Magnetic Resonance Imaging", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pregnancy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Spinal Cord Compression", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Spinal Stenosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ultrasonography, Prenatal", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Pediatric Intensive Care Unit, Service de R\u00e9animation, AP-HP, H\u00f4pital Robert Debr\u00e9, and Universit\u00e9 Paris VII, Facult\u00e9 de M\u00e9decine Denis Diderot, IFR02, 48, Boulevard S\u00e9rurier, 75019, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Garnier", 
        "givenName": "Arnaud", 
        "id": "sg:person.01106106330.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106106330.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Pediatric Intensive Care Unit, Service de R\u00e9animation, AP-HP, H\u00f4pital Robert Debr\u00e9, and Universit\u00e9 Paris VII, Facult\u00e9 de M\u00e9decine Denis Diderot, IFR02, 48, Boulevard S\u00e9rurier, 75019, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dauger", 
        "givenName": "St\u00e9phane", 
        "id": "sg:person.01225615533.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225615533.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Charles-Nicolle", 
          "id": "https://www.grid.ac/institutes/grid.417615.0", 
          "name": [
            "Pediatric Imaging Department, H\u00f4pital Charles Nicolle, Rouen, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Eurin", 
        "givenName": "Dani\u00e8le", 
        "id": "sg:person.01076130645.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01076130645.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Naples Federico II", 
          "id": "https://www.grid.ac/institutes/grid.4691.a", 
          "name": [
            "Department of Pediatrics, Federico II University, Naples, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Parisi", 
        "givenName": "Ida", 
        "id": "sg:person.01231171145.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231171145.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Naples Federico II", 
          "id": "https://www.grid.ac/institutes/grid.4691.a", 
          "name": [
            "Department of Pediatrics, Federico II University, Naples, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Parenti", 
        "givenName": "Giancarlo", 
        "id": "sg:person.0677056352.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0677056352.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Pediatric Imaging Department, AP-HP, H\u00f4pital Robert-Debr\u00e9, and Universit\u00e9 Paris VII, Facult\u00e9 de M\u00e9decine Denis Diderot, IFR02, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Garel", 
        "givenName": "Catherine", 
        "id": "sg:person.0576577656.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0576577656.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Foetopathology, AP-HP, H\u00f4pital Robert Debr\u00e9, and Universit\u00e9 Paris VII, Facult\u00e9 de M\u00e9decine Denis Diderot, IFR02, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Delbecque", 
        "givenName": "Katy", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Clinical Genetics, AP-HP, H\u00f4pital Robert Debr\u00e9, and Universit\u00e9 Paris VII, Facult\u00e9 de M\u00e9decine Denis Diderot, IFR02, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Baumann", 
        "givenName": "Clarisse", 
        "id": "sg:person.01165004051.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165004051.12"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/ajmg.a.20242", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001416868"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm198410183111603", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009005170"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/archotol.130.12.1423", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012003055"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.10950", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012603825"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320440615", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023012360"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320440615", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023012360"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00223874", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024132545", 
          "https://doi.org/10.1007/bf00223874"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0929-693x(00)00181-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026249261"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00247-001-0638-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032995960", 
          "https://doi.org/10.1007/s00247-001-0638-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddi351", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033018521"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(95)90367-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037525181"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00284052", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042822838", 
          "https://doi.org/10.1007/bf00284052"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.20202", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045300643"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2007-04", 
    "datePublishedReg": "2007-04-01", 
    "description": "Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00431-006-0239-4", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1017354", 
        "issn": [
          "0340-6199", 
          "1432-1076"
        ], 
        "name": "European Journal of Pediatrics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "166"
      }
    ], 
    "name": "Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases", 
    "pagination": "327-331", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "a9e4f1dbb883cc333c611e39107c2dd65a795a4199c20076d997c3e2822e8496"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16937129"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7603873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00431-006-0239-4"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1035664748"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00431-006-0239-4", 
      "https://app.dimensions.ai/details/publication/pub.1035664748"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T16:37", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8669_00000489.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s00431-006-0239-4"
  }
]
 

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/s00431-006-0239-4'

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/s00431-006-0239-4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00431-006-0239-4'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00431-006-0239-4'


 

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

233 TRIPLES      21 PREDICATES      57 URIs      37 LITERALS      25 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00431-006-0239-4 schema:about N04d0606e82ec45ae9df1884e693a9fa9
2 N0620ea854deb4c9c933bedd16b39e7f2
3 N1a4def12be9546e5bcbdabc54d1b7fb3
4 N1b3722d6d6cc48b7bb05a3e79724a0c2
5 N284220f68b9048da99df86b931b9a780
6 N3631f792e3ce4fdaa2e34eacbd18df5c
7 N58d9e5e406704458940206a052404fda
8 N6c316d4c5b174fca908a4d14824faf74
9 N84d264ecd4f94b4f885acfdf548499e6
10 N94810ac1d614413c95ac48888b27b7ef
11 N99d185a4f5944f6c89251063a119c1b2
12 N9fe1d73d2c81421b9a140dd86fb89361
13 Nb21af46192794d31a5bd4a57296d41b6
14 Ndeb6ddc94d1f42bab7fad6e24860e49a
15 Neccf28eff79447efaa2e22c873ea2f54
16 Nf3da3536ebf54d539d225b64a2b608ef
17 anzsrc-for:11
18 anzsrc-for:1103
19 schema:author N366981a5ecea40c0a45a022b7ec56d85
20 schema:citation sg:pub.10.1007/bf00223874
21 sg:pub.10.1007/bf00284052
22 sg:pub.10.1007/s00247-001-0638-7
23 https://doi.org/10.1001/archotol.130.12.1423
24 https://doi.org/10.1002/ajmg.1320440615
25 https://doi.org/10.1002/ajmg.a.10950
26 https://doi.org/10.1002/ajmg.a.20202
27 https://doi.org/10.1002/ajmg.a.20242
28 https://doi.org/10.1016/0092-8674(95)90367-4
29 https://doi.org/10.1016/s0929-693x(00)00181-0
30 https://doi.org/10.1056/nejm198410183111603
31 https://doi.org/10.1093/hmg/ddi351
32 schema:datePublished 2007-04
33 schema:datePublishedReg 2007-04-01
34 schema:description Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption.
35 schema:genre research_article
36 schema:inLanguage en
37 schema:isAccessibleForFree false
38 schema:isPartOf N11bafbc6c3e74a1cabda45557ba3bd78
39 N2dccd6db8e4e474baf3b80d04d296af6
40 sg:journal.1017354
41 schema:name Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases
42 schema:pagination 327-331
43 schema:productId N17a578d3957b411c95ff54ebc2f557a3
44 N27b743b3f7b2449ab2c99f04532871ff
45 N312c6115da744387b63fdbc25ca2b2e2
46 N42024b6b08ed40e5b3987968236aa824
47 Nfe53bed7c0224cd08a8383d6e79fffd6
48 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035664748
49 https://doi.org/10.1007/s00431-006-0239-4
50 schema:sdDatePublished 2019-04-10T16:37
51 schema:sdLicense https://scigraph.springernature.com/explorer/license/
52 schema:sdPublisher Ndc5f5cccc3f74353a3a54eb49a982528
53 schema:url http://link.springer.com/10.1007/s00431-006-0239-4
54 sgo:license sg:explorer/license/
55 sgo:sdDataset articles
56 rdf:type schema:ScholarlyArticle
57 N04d0606e82ec45ae9df1884e693a9fa9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
58 schema:name Spinal Stenosis
59 rdf:type schema:DefinedTerm
60 N0620ea854deb4c9c933bedd16b39e7f2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
61 schema:name Cervical Vertebrae
62 rdf:type schema:DefinedTerm
63 N103f59e9a30446868c079c3566b21ba5 schema:affiliation Nb56b903d73b442c18696d5312573c59a
64 schema:familyName Delbecque
65 schema:givenName Katy
66 rdf:type schema:Person
67 N11bafbc6c3e74a1cabda45557ba3bd78 schema:volumeNumber 166
68 rdf:type schema:PublicationVolume
69 N17a578d3957b411c95ff54ebc2f557a3 schema:name readcube_id
70 schema:value a9e4f1dbb883cc333c611e39107c2dd65a795a4199c20076d997c3e2822e8496
71 rdf:type schema:PropertyValue
72 N1a4def12be9546e5bcbdabc54d1b7fb3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
73 schema:name Adult
74 rdf:type schema:DefinedTerm
75 N1b3722d6d6cc48b7bb05a3e79724a0c2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Phenotype
77 rdf:type schema:DefinedTerm
78 N20e65b24bb4e4aa1b972e3899827346e rdf:first sg:person.0576577656.13
79 rdf:rest Nb49affa767e84ce3a317b64c8c8767eb
80 N27b743b3f7b2449ab2c99f04532871ff schema:name doi
81 schema:value 10.1007/s00431-006-0239-4
82 rdf:type schema:PropertyValue
83 N284220f68b9048da99df86b931b9a780 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Fatal Outcome
85 rdf:type schema:DefinedTerm
86 N2dccd6db8e4e474baf3b80d04d296af6 schema:issueNumber 4
87 rdf:type schema:PublicationIssue
88 N312c6115da744387b63fdbc25ca2b2e2 schema:name pubmed_id
89 schema:value 16937129
90 rdf:type schema:PropertyValue
91 N3631f792e3ce4fdaa2e34eacbd18df5c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
92 schema:name Abnormalities, Multiple
93 rdf:type schema:DefinedTerm
94 N366981a5ecea40c0a45a022b7ec56d85 rdf:first sg:person.01106106330.24
95 rdf:rest N74e8cf5f68fe4ec8835245c11037836f
96 N36823256609e45a4aadb467fba981399 schema:name Pediatric Intensive Care Unit, Service de Réanimation, AP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02, 48, Boulevard Sérurier, 75019, Paris, France
97 rdf:type schema:Organization
98 N42024b6b08ed40e5b3987968236aa824 schema:name dimensions_id
99 schema:value pub.1035664748
100 rdf:type schema:PropertyValue
101 N42e6bef5f1954e56ae82b21ea95f134d rdf:first sg:person.01165004051.12
102 rdf:rest rdf:nil
103 N4bd73ed62f114f1784b65d2ed965d882 rdf:first sg:person.0677056352.25
104 rdf:rest N20e65b24bb4e4aa1b972e3899827346e
105 N58d9e5e406704458940206a052404fda schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Humans
107 rdf:type schema:DefinedTerm
108 N5ccf8857c49644d79d1b4a7729d5a20e schema:name Pediatric Intensive Care Unit, Service de Réanimation, AP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02, 48, Boulevard Sérurier, 75019, Paris, France
109 rdf:type schema:Organization
110 N6c316d4c5b174fca908a4d14824faf74 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Male
112 rdf:type schema:DefinedTerm
113 N6c52f0140a574083aaadb9be2dd6be21 schema:name Department of Clinical Genetics, AP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02, Paris, France
114 rdf:type schema:Organization
115 N74e8cf5f68fe4ec8835245c11037836f rdf:first sg:person.01225615533.17
116 rdf:rest Nb4136a3b1b00446da32fd36092ac91f3
117 N84d264ecd4f94b4f885acfdf548499e6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Infant, Newborn
119 rdf:type schema:DefinedTerm
120 N94810ac1d614413c95ac48888b27b7ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Abortion, Therapeutic
122 rdf:type schema:DefinedTerm
123 N99d185a4f5944f6c89251063a119c1b2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Spinal Cord Compression
125 rdf:type schema:DefinedTerm
126 N9ab6b5ceddc44149954855860cf89aa1 rdf:first sg:person.01231171145.06
127 rdf:rest N4bd73ed62f114f1784b65d2ed965d882
128 N9fe1d73d2c81421b9a140dd86fb89361 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Chondrodysplasia Punctata
130 rdf:type schema:DefinedTerm
131 Nb21af46192794d31a5bd4a57296d41b6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Magnetic Resonance Imaging
133 rdf:type schema:DefinedTerm
134 Nb4136a3b1b00446da32fd36092ac91f3 rdf:first sg:person.01076130645.84
135 rdf:rest N9ab6b5ceddc44149954855860cf89aa1
136 Nb49affa767e84ce3a317b64c8c8767eb rdf:first N103f59e9a30446868c079c3566b21ba5
137 rdf:rest N42e6bef5f1954e56ae82b21ea95f134d
138 Nb4a3b98222b24c7e80bcf4f8c760472c schema:name Pediatric Imaging Department, AP-HP, Hôpital Robert-Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02, Paris, France
139 rdf:type schema:Organization
140 Nb56b903d73b442c18696d5312573c59a schema:name Department of Foetopathology, AP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02, Paris, France
141 rdf:type schema:Organization
142 Ndc5f5cccc3f74353a3a54eb49a982528 schema:name Springer Nature - SN SciGraph project
143 rdf:type schema:Organization
144 Ndeb6ddc94d1f42bab7fad6e24860e49a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
145 schema:name Female
146 rdf:type schema:DefinedTerm
147 Neccf28eff79447efaa2e22c873ea2f54 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
148 schema:name Pregnancy
149 rdf:type schema:DefinedTerm
150 Nf3da3536ebf54d539d225b64a2b608ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
151 schema:name Ultrasonography, Prenatal
152 rdf:type schema:DefinedTerm
153 Nfe53bed7c0224cd08a8383d6e79fffd6 schema:name nlm_unique_id
154 schema:value 7603873
155 rdf:type schema:PropertyValue
156 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
157 schema:name Medical and Health Sciences
158 rdf:type schema:DefinedTerm
159 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
160 schema:name Clinical Sciences
161 rdf:type schema:DefinedTerm
162 sg:journal.1017354 schema:issn 0340-6199
163 1432-1076
164 schema:name European Journal of Pediatrics
165 rdf:type schema:Periodical
166 sg:person.01076130645.84 schema:affiliation https://www.grid.ac/institutes/grid.417615.0
167 schema:familyName Eurin
168 schema:givenName Danièle
169 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01076130645.84
170 rdf:type schema:Person
171 sg:person.01106106330.24 schema:affiliation N36823256609e45a4aadb467fba981399
172 schema:familyName Garnier
173 schema:givenName Arnaud
174 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106106330.24
175 rdf:type schema:Person
176 sg:person.01165004051.12 schema:affiliation N6c52f0140a574083aaadb9be2dd6be21
177 schema:familyName Baumann
178 schema:givenName Clarisse
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165004051.12
180 rdf:type schema:Person
181 sg:person.01225615533.17 schema:affiliation N5ccf8857c49644d79d1b4a7729d5a20e
182 schema:familyName Dauger
183 schema:givenName Stéphane
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225615533.17
185 rdf:type schema:Person
186 sg:person.01231171145.06 schema:affiliation https://www.grid.ac/institutes/grid.4691.a
187 schema:familyName Parisi
188 schema:givenName Ida
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231171145.06
190 rdf:type schema:Person
191 sg:person.0576577656.13 schema:affiliation Nb4a3b98222b24c7e80bcf4f8c760472c
192 schema:familyName Garel
193 schema:givenName Catherine
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0576577656.13
195 rdf:type schema:Person
196 sg:person.0677056352.25 schema:affiliation https://www.grid.ac/institutes/grid.4691.a
197 schema:familyName Parenti
198 schema:givenName Giancarlo
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0677056352.25
200 rdf:type schema:Person
201 sg:pub.10.1007/bf00223874 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024132545
202 https://doi.org/10.1007/bf00223874
203 rdf:type schema:CreativeWork
204 sg:pub.10.1007/bf00284052 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042822838
205 https://doi.org/10.1007/bf00284052
206 rdf:type schema:CreativeWork
207 sg:pub.10.1007/s00247-001-0638-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032995960
208 https://doi.org/10.1007/s00247-001-0638-7
209 rdf:type schema:CreativeWork
210 https://doi.org/10.1001/archotol.130.12.1423 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012003055
211 rdf:type schema:CreativeWork
212 https://doi.org/10.1002/ajmg.1320440615 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023012360
213 rdf:type schema:CreativeWork
214 https://doi.org/10.1002/ajmg.a.10950 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012603825
215 rdf:type schema:CreativeWork
216 https://doi.org/10.1002/ajmg.a.20202 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045300643
217 rdf:type schema:CreativeWork
218 https://doi.org/10.1002/ajmg.a.20242 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001416868
219 rdf:type schema:CreativeWork
220 https://doi.org/10.1016/0092-8674(95)90367-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037525181
221 rdf:type schema:CreativeWork
222 https://doi.org/10.1016/s0929-693x(00)00181-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026249261
223 rdf:type schema:CreativeWork
224 https://doi.org/10.1056/nejm198410183111603 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009005170
225 rdf:type schema:CreativeWork
226 https://doi.org/10.1093/hmg/ddi351 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033018521
227 rdf:type schema:CreativeWork
228 https://www.grid.ac/institutes/grid.417615.0 schema:alternateName Hôpital Charles-Nicolle
229 schema:name Pediatric Imaging Department, Hôpital Charles Nicolle, Rouen, France
230 rdf:type schema:Organization
231 https://www.grid.ac/institutes/grid.4691.a schema:alternateName University of Naples Federico II
232 schema:name Department of Pediatrics, Federico II University, Naples, Italy
233 rdf:type schema:Organization
 




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


...