Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-05-27

AUTHORS

Virginie Scotet, Marie-Pierre Audrézet, Michel Roussey, Gilles Rault, Martine Blayau, Marc De Braekeleer, Claude Férec

ABSTRACT

Taking into account the situation of Brittany, a region of western France where cystic fibrosis (CF) is common and where a neonatal screening program was set up 14 years ago, the aim of this study was to determine the way in which the birth prevalence of CF has been influenced by the various public health strategies implemented in the region (neonatal screening, prenatal diagnosis, ultrasound examination and family testing). This study used the results of the neonatal screening program, which enabled a precise measure of the prevalence of CF at birth to be obtained. Over the same period, we collected data from prenatal diagnoses carried out in the region, first in families related to a CF child and also those made following the detection of an echogenic bowel upon routine ultrasound examination performed during pregnancy. The prevalence of CF at birth was estimated to be 1/2838 in the region over a 10-year period (1992–2001). By including the 54 CF-affected pregnancies that were terminated during these 10 years, the corrected birth prevalence of CF was 1/1972. Prenatal diagnosis was therefore responsible for a global decrease in CF prevalence at birth of 30.5%. This work constitutes the first study able to provide a precise measure of CF birth prevalence and of its evolution through the combined effects of neonatal screening, prenatal diagnosis, ultrasound examination and family testing. More... »

PAGES

280-285

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-003-0962-0

DOI

http://dx.doi.org/10.1007/s00439-003-0962-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020166704

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12768409


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/2008/1114", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Paediatrics and Reproductive Medicine", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Public Health and Health Services", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cystic Fibrosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cystic Fibrosis Transmembrane Conductance Regulator", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "France", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Testing", 
        "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": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Epidemiology", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neonatal Screening", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Prenatal Diagnosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Prevalence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Public Health", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ultrasonography, Prenatal", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "INSERM EMI 01\u201315, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, Hospital, University, EFS-Bretagne, 46 Rue F\u00e9lix Le Dantec, BP\u00a0454, 29275, Brest C\u00e9dex, France", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "INSERM EMI 01\u201315, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, Hospital, University, EFS-Bretagne, 46 Rue F\u00e9lix Le Dantec, BP\u00a0454, 29275, Brest C\u00e9dex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Scotet", 
        "givenName": "Virginie", 
        "id": "sg:person.0664643611.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664643611.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "INSERM EMI 01\u201315, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, Hospital, University, EFS-Bretagne, 46 Rue F\u00e9lix Le Dantec, BP\u00a0454, 29275, Brest C\u00e9dex, France", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "INSERM EMI 01\u201315, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, Hospital, University, EFS-Bretagne, 46 Rue F\u00e9lix Le Dantec, BP\u00a0454, 29275, Brest C\u00e9dex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Audr\u00e9zet", 
        "givenName": "Marie-Pierre", 
        "id": "sg:person.01347271501.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347271501.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "CHRU, H\u00f4pital Sud, Rennes, France", 
          "id": "http://www.grid.ac/institutes/grid.411154.4", 
          "name": [
            "CHRU, H\u00f4pital Sud, Rennes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Roussey", 
        "givenName": "Michel", 
        "id": "sg:person.0775134121.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0775134121.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre de Perharidy, Roscoff, France", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Centre de Perharidy, Roscoff, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rault", 
        "givenName": "Gilles", 
        "id": "sg:person.01342134511.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01342134511.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Rennes, France", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Rennes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Blayau", 
        "givenName": "Martine", 
        "id": "sg:person.01330675605.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01330675605.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut National d'Etudes D\u00e9mographiques, Paris, France", 
          "id": "http://www.grid.ac/institutes/grid.77048.3c", 
          "name": [
            "INSERM EMI 01\u201315, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, Hospital, University, EFS-Bretagne, 46 Rue F\u00e9lix Le Dantec, BP\u00a0454, 29275, Brest C\u00e9dex, France", 
            "Laboratoire de Cytog\u00e9n\u00e9tique, Brest, France", 
            "Institut National d'Etudes D\u00e9mographiques, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "De Braekeleer", 
        "givenName": "Marc", 
        "id": "sg:person.01333412750.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333412750.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "INSERM EMI 01\u201315, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, Hospital, University, EFS-Bretagne, 46 Rue F\u00e9lix Le Dantec, BP\u00a0454, 29275, Brest C\u00e9dex, France", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "INSERM EMI 01\u201315, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, Hospital, University, EFS-Bretagne, 46 Rue F\u00e9lix Le Dantec, BP\u00a0454, 29275, Brest C\u00e9dex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "F\u00e9rec", 
        "givenName": "Claude", 
        "id": "sg:person.0722036332.02", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0722036332.02"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ng0692-188", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030149953", 
          "https://doi.org/10.1038/ng0692-188"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-001-0615-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045104992", 
          "https://doi.org/10.1007/s00439-001-0615-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00197409", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011193325", 
          "https://doi.org/10.1007/bf00197409"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-002-0788-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018059558", 
          "https://doi.org/10.1007/s00439-002-0788-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00282551", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003972214", 
          "https://doi.org/10.1007/bf00282551"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2003-05-27", 
    "datePublishedReg": "2003-05-27", 
    "description": "Taking into account the situation of Brittany, a region of western France where cystic fibrosis (CF) is common and where a neonatal screening program was set up 14\u00a0years ago, the aim of this study was to determine the way in which the birth prevalence of CF has been influenced by the various public health strategies implemented in the region (neonatal screening, prenatal diagnosis, ultrasound examination and family testing). This study used the results of the neonatal screening program, which enabled a precise measure of the prevalence of CF at birth to be obtained. Over the same period, we collected data from prenatal diagnoses carried out in the region, first in families related to a CF child and also those made following the detection of an echogenic bowel upon routine ultrasound examination performed during pregnancy. The prevalence of CF at birth was estimated to be 1/2838 in the region over a 10-year period (1992\u20132001). By including the 54 CF-affected pregnancies that were terminated during these 10\u00a0years, the corrected birth prevalence of CF was 1/1972. Prenatal diagnosis was therefore responsible for a global decrease in CF prevalence at birth of 30.5%. This work constitutes the first study able to provide a precise measure of CF birth prevalence and of its evolution through the combined effects of neonatal screening, prenatal diagnosis, ultrasound examination and family testing.", 
    "genre": "article", 
    "id": "sg:pub.10.1007/s00439-003-0962-0", 
    "inLanguage": "en", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "113"
      }
    ], 
    "keywords": [
      "prevalence of CF", 
      "neonatal screening program", 
      "public health strategies", 
      "cystic fibrosis", 
      "birth prevalence", 
      "ultrasound examination", 
      "screening program", 
      "health strategies", 
      "prenatal diagnosis", 
      "routine ultrasound examination", 
      "CF prevalence", 
      "CF children", 
      "echogenic bowel", 
      "neonatal screening", 
      "prevalence", 
      "diagnosis", 
      "pregnancy", 
      "family testing", 
      "birth", 
      "fibrosis", 
      "same period", 
      "first study", 
      "examination", 
      "global decrease", 
      "bowel", 
      "years", 
      "precise measure", 
      "study", 
      "period", 
      "children", 
      "measures", 
      "screening", 
      "aim", 
      "program", 
      "decrease", 
      "testing", 
      "strategies", 
      "effect", 
      "region", 
      "family", 
      "data", 
      "France", 
      "detection", 
      "impact", 
      "results", 
      "western France", 
      "situation", 
      "way", 
      "Brittany", 
      "account", 
      "work", 
      "evolution", 
      "situation of Brittany", 
      "CF-affected pregnancies", 
      "CF birth prevalence"
    ], 
    "name": "Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France", 
    "pagination": "280-285", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1020166704"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00439-003-0962-0"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "12768409"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00439-003-0962-0", 
      "https://app.dimensions.ai/details/publication/pub.1020166704"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-01-01T18:13", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_365.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1007/s00439-003-0962-0"
  }
]
 

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/s00439-003-0962-0'

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/s00439-003-0962-0'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-003-0962-0'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-003-0962-0'


 

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

251 TRIPLES      22 PREDICATES      101 URIs      87 LITERALS      21 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00439-003-0962-0 schema:about N1029eb788a7443689f6faee5762e27a4
2 N16bc5d88b65543fb89fcf9f835c3d0d5
3 N274a3b11f4ee413f9d51c1a4568a0e4f
4 N400246fa63a94511b6a8bd13acf03c86
5 N4eb60eba89b747f0b23f23487d1d3526
6 N4f94c7a666b6449c882fc8dff51fce9b
7 N53049cb887c049c9b685c6b283b7058b
8 N623976476dc947eab828749ef97cb525
9 N68908d7e06e44961935adc0e0ab371d1
10 Nc1190f3dadd74136a8215cff663e66a1
11 Nd7c4cb0bc4a44a1ba414472b5d415c37
12 Ne24a71656a4c4e4ebc26b96afcaa2b6d
13 Nf816f172e32d4d26b61157ec9a5f7912
14 Nfb1b705b188d4e87a46fb193cc91224b
15 anzsrc-for:11
16 anzsrc-for:1114
17 anzsrc-for:1117
18 schema:author N9025e49287f949e6aad3b46fef919b5f
19 schema:citation sg:pub.10.1007/bf00197409
20 sg:pub.10.1007/bf00282551
21 sg:pub.10.1007/s00439-001-0615-0
22 sg:pub.10.1007/s00439-002-0788-1
23 sg:pub.10.1038/ng0692-188
24 schema:datePublished 2003-05-27
25 schema:datePublishedReg 2003-05-27
26 schema:description Taking into account the situation of Brittany, a region of western France where cystic fibrosis (CF) is common and where a neonatal screening program was set up 14 years ago, the aim of this study was to determine the way in which the birth prevalence of CF has been influenced by the various public health strategies implemented in the region (neonatal screening, prenatal diagnosis, ultrasound examination and family testing). This study used the results of the neonatal screening program, which enabled a precise measure of the prevalence of CF at birth to be obtained. Over the same period, we collected data from prenatal diagnoses carried out in the region, first in families related to a CF child and also those made following the detection of an echogenic bowel upon routine ultrasound examination performed during pregnancy. The prevalence of CF at birth was estimated to be 1/2838 in the region over a 10-year period (1992–2001). By including the 54 CF-affected pregnancies that were terminated during these 10 years, the corrected birth prevalence of CF was 1/1972. Prenatal diagnosis was therefore responsible for a global decrease in CF prevalence at birth of 30.5%. This work constitutes the first study able to provide a precise measure of CF birth prevalence and of its evolution through the combined effects of neonatal screening, prenatal diagnosis, ultrasound examination and family testing.
27 schema:genre article
28 schema:inLanguage en
29 schema:isAccessibleForFree false
30 schema:isPartOf N54c0091112f944a5988254054485ef1c
31 Nc8228bc6987144218af5f448bc17f2ea
32 sg:journal.1085982
33 schema:keywords Brittany
34 CF birth prevalence
35 CF children
36 CF prevalence
37 CF-affected pregnancies
38 France
39 account
40 aim
41 birth
42 birth prevalence
43 bowel
44 children
45 cystic fibrosis
46 data
47 decrease
48 detection
49 diagnosis
50 echogenic bowel
51 effect
52 evolution
53 examination
54 family
55 family testing
56 fibrosis
57 first study
58 global decrease
59 health strategies
60 impact
61 measures
62 neonatal screening
63 neonatal screening program
64 period
65 precise measure
66 pregnancy
67 prenatal diagnosis
68 prevalence
69 prevalence of CF
70 program
71 public health strategies
72 region
73 results
74 routine ultrasound examination
75 same period
76 screening
77 screening program
78 situation
79 situation of Brittany
80 strategies
81 study
82 testing
83 ultrasound examination
84 way
85 western France
86 work
87 years
88 schema:name Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France
89 schema:pagination 280-285
90 schema:productId N099992b92192445a937281c12877eada
91 N1e1453a6872d461ba0006d9b5cd59c21
92 Na181eb373cb84ef0b69d1834e0398b69
93 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020166704
94 https://doi.org/10.1007/s00439-003-0962-0
95 schema:sdDatePublished 2022-01-01T18:13
96 schema:sdLicense https://scigraph.springernature.com/explorer/license/
97 schema:sdPublisher N7138d81b98b04d738eba9f7f4550c99a
98 schema:url https://doi.org/10.1007/s00439-003-0962-0
99 sgo:license sg:explorer/license/
100 sgo:sdDataset articles
101 rdf:type schema:ScholarlyArticle
102 N099992b92192445a937281c12877eada schema:name dimensions_id
103 schema:value pub.1020166704
104 rdf:type schema:PropertyValue
105 N1029eb788a7443689f6faee5762e27a4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Prevalence
107 rdf:type schema:DefinedTerm
108 N16bc5d88b65543fb89fcf9f835c3d0d5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Public Health
110 rdf:type schema:DefinedTerm
111 N1e1453a6872d461ba0006d9b5cd59c21 schema:name pubmed_id
112 schema:value 12768409
113 rdf:type schema:PropertyValue
114 N274a3b11f4ee413f9d51c1a4568a0e4f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Prenatal Diagnosis
116 rdf:type schema:DefinedTerm
117 N400246fa63a94511b6a8bd13acf03c86 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Genetic Testing
119 rdf:type schema:DefinedTerm
120 N4eb60eba89b747f0b23f23487d1d3526 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Cystic Fibrosis
122 rdf:type schema:DefinedTerm
123 N4f94c7a666b6449c882fc8dff51fce9b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Female
125 rdf:type schema:DefinedTerm
126 N53049cb887c049c9b685c6b283b7058b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Infant, Newborn
128 rdf:type schema:DefinedTerm
129 N54c0091112f944a5988254054485ef1c schema:volumeNumber 113
130 rdf:type schema:PublicationVolume
131 N623976476dc947eab828749ef97cb525 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Male
133 rdf:type schema:DefinedTerm
134 N6268ceb5b35f4f2f9640514f0c81054b rdf:first sg:person.01342134511.56
135 rdf:rest N9867ad9e3720451589e67ea70c619396
136 N68908d7e06e44961935adc0e0ab371d1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Neonatal Screening
138 rdf:type schema:DefinedTerm
139 N7138d81b98b04d738eba9f7f4550c99a schema:name Springer Nature - SN SciGraph project
140 rdf:type schema:Organization
141 N7e173b9007174587ba9cbae7591c6047 rdf:first sg:person.0775134121.51
142 rdf:rest N6268ceb5b35f4f2f9640514f0c81054b
143 N9025e49287f949e6aad3b46fef919b5f rdf:first sg:person.0664643611.90
144 rdf:rest Ne88266d2a3db4ca1ad89d54a0d4cc2ab
145 N9867ad9e3720451589e67ea70c619396 rdf:first sg:person.01330675605.43
146 rdf:rest N9bb73681d9cb406c8319a36dbbd3f3da
147 N9bb73681d9cb406c8319a36dbbd3f3da rdf:first sg:person.01333412750.77
148 rdf:rest Ne4734f5283e343d7859171090a26c886
149 Na181eb373cb84ef0b69d1834e0398b69 schema:name doi
150 schema:value 10.1007/s00439-003-0962-0
151 rdf:type schema:PropertyValue
152 Nc1190f3dadd74136a8215cff663e66a1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Ultrasonography, Prenatal
154 rdf:type schema:DefinedTerm
155 Nc8228bc6987144218af5f448bc17f2ea schema:issueNumber 3
156 rdf:type schema:PublicationIssue
157 Nd7c4cb0bc4a44a1ba414472b5d415c37 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
158 schema:name Cystic Fibrosis Transmembrane Conductance Regulator
159 rdf:type schema:DefinedTerm
160 Ne24a71656a4c4e4ebc26b96afcaa2b6d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
161 schema:name Molecular Epidemiology
162 rdf:type schema:DefinedTerm
163 Ne4734f5283e343d7859171090a26c886 rdf:first sg:person.0722036332.02
164 rdf:rest rdf:nil
165 Ne88266d2a3db4ca1ad89d54a0d4cc2ab rdf:first sg:person.01347271501.17
166 rdf:rest N7e173b9007174587ba9cbae7591c6047
167 Nf816f172e32d4d26b61157ec9a5f7912 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
168 schema:name Humans
169 rdf:type schema:DefinedTerm
170 Nfb1b705b188d4e87a46fb193cc91224b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
171 schema:name France
172 rdf:type schema:DefinedTerm
173 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
174 schema:name Medical and Health Sciences
175 rdf:type schema:DefinedTerm
176 anzsrc-for:1114 schema:inDefinedTermSet anzsrc-for:
177 schema:name Paediatrics and Reproductive Medicine
178 rdf:type schema:DefinedTerm
179 anzsrc-for:1117 schema:inDefinedTermSet anzsrc-for:
180 schema:name Public Health and Health Services
181 rdf:type schema:DefinedTerm
182 sg:journal.1085982 schema:issn 0340-6717
183 1432-1203
184 schema:name Human Genetics
185 schema:publisher Springer Nature
186 rdf:type schema:Periodical
187 sg:person.01330675605.43 schema:affiliation grid-institutes:None
188 schema:familyName Blayau
189 schema:givenName Martine
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01330675605.43
191 rdf:type schema:Person
192 sg:person.01333412750.77 schema:affiliation grid-institutes:grid.77048.3c
193 schema:familyName De Braekeleer
194 schema:givenName Marc
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333412750.77
196 rdf:type schema:Person
197 sg:person.01342134511.56 schema:affiliation grid-institutes:None
198 schema:familyName Rault
199 schema:givenName Gilles
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01342134511.56
201 rdf:type schema:Person
202 sg:person.01347271501.17 schema:affiliation grid-institutes:None
203 schema:familyName Audrézet
204 schema:givenName Marie-Pierre
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347271501.17
206 rdf:type schema:Person
207 sg:person.0664643611.90 schema:affiliation grid-institutes:None
208 schema:familyName Scotet
209 schema:givenName Virginie
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664643611.90
211 rdf:type schema:Person
212 sg:person.0722036332.02 schema:affiliation grid-institutes:None
213 schema:familyName Férec
214 schema:givenName Claude
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0722036332.02
216 rdf:type schema:Person
217 sg:person.0775134121.51 schema:affiliation grid-institutes:grid.411154.4
218 schema:familyName Roussey
219 schema:givenName Michel
220 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0775134121.51
221 rdf:type schema:Person
222 sg:pub.10.1007/bf00197409 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011193325
223 https://doi.org/10.1007/bf00197409
224 rdf:type schema:CreativeWork
225 sg:pub.10.1007/bf00282551 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003972214
226 https://doi.org/10.1007/bf00282551
227 rdf:type schema:CreativeWork
228 sg:pub.10.1007/s00439-001-0615-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045104992
229 https://doi.org/10.1007/s00439-001-0615-0
230 rdf:type schema:CreativeWork
231 sg:pub.10.1007/s00439-002-0788-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018059558
232 https://doi.org/10.1007/s00439-002-0788-1
233 rdf:type schema:CreativeWork
234 sg:pub.10.1038/ng0692-188 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030149953
235 https://doi.org/10.1038/ng0692-188
236 rdf:type schema:CreativeWork
237 grid-institutes:None schema:alternateName Centre de Perharidy, Roscoff, France
238 INSERM EMI 01–15, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Hospital, University, EFS-Bretagne, 46 Rue Félix Le Dantec, BP 454, 29275, Brest Cédex, France
239 Laboratoire de Génétique Moléculaire, Rennes, France
240 schema:name Centre de Perharidy, Roscoff, France
241 INSERM EMI 01–15, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Hospital, University, EFS-Bretagne, 46 Rue Félix Le Dantec, BP 454, 29275, Brest Cédex, France
242 Laboratoire de Génétique Moléculaire, Rennes, France
243 rdf:type schema:Organization
244 grid-institutes:grid.411154.4 schema:alternateName CHRU, Hôpital Sud, Rennes, France
245 schema:name CHRU, Hôpital Sud, Rennes, France
246 rdf:type schema:Organization
247 grid-institutes:grid.77048.3c schema:alternateName Institut National d'Etudes Démographiques, Paris, France
248 schema:name INSERM EMI 01–15, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Hospital, University, EFS-Bretagne, 46 Rue Félix Le Dantec, BP 454, 29275, Brest Cédex, France
249 Institut National d'Etudes Démographiques, Paris, France
250 Laboratoire de Cytogénétique, Brest, France
251 rdf:type schema:Organization
 




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


...