AustralieFrV1, Main, Exploration, bibRecord, 00B113

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Identifieur interne : 00B113 ( Main/Exploration ); précédent : 00B112; suivant : 00B114

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Auteurs : Hans-Hilger Ropers [Allemagne] ; Maria Hoeltzenbein [Allemagne] ; Vera Kalscheuer [Allemagne] ; Helger Yntema [Pays-Bas] ; Ben Hamel [Pays-Bas] ; Jean-Pierre Fryns [Belgique] ; Jamel Chelly [France] ; Michael Partington [Australie] ; Jozef Gecz [Australie] ; Claude Moraine [France]

Source :

Trends in genetics : (Regular ed.) [ 0168-9525 ] ; 2003.

RBID : Pascal:03-0424523

Descripteurs français

Pascal (Inist)
- Carte génétique, Mutation, Arriération mentale.

English descriptors

KwdEn :
- Genetic mapping, Mental retardation, Mutation.

Abstract

Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.

Affiliations:

Allemagne, Australie, Belgique, France, Pays-Bas
Berlin, Province du Brabant flamand, Île-de-France
Berlin, Louvain, Paris

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 005224
to stream PascalFrancis, to step Curation: 000F02
to stream PascalFrancis, to step Checkpoint: 004E85
to stream Main, to step Merge: 00BE70
to stream Main, to step Curation: 00B113

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Nonsyndromic X-linked mental retardation: where are the missing mutations?</title>
<author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yntema, Helger" sort="Yntema, Helger" uniqKey="Yntema H" first="Helger" last="Yntema">Helger Yntema</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 20</s1>
<s2>6500 HB Nijmegen</s2>
<s3>NLD</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 20</s1>
<s2>6500 HB Nijmegen</s2>
<s3>NLD</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Center for Human Genetics, University Hospital Leuven, U.Z. Gasthuisberg, Herestraat 49</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>INSERMA U129-ICGM, Faculté de Médécine Cochin, 24 rue du Faubourg Saint-Jacques</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Hunter Genetics and University of Newcastle, PO Box 84</s1>
<s2>Waratah, New South Wales, 2298</s2>
<s3>AUS</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Waratah, New South Wales, 2298</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital 72, King William Road</s1>
<s2>North Adelaide, SA 5006</s2>
<s3>AUS</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>North Adelaide, SA 5006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Service de Génétique, CHU Bretonneau, INSERM U316 2 Boulevard Tonnellé</s1>
<s2>37044 Tours</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>37044 Tours</wicri:noRegion>
<wicri:noRegion>INSERM U316 2 Boulevard Tonnellé</wicri:noRegion>
<wicri:noRegion>37044 Tours</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">03-0424523</idno>
<date when="2003">2003</date>
<idno type="stanalyst">PASCAL 03-0424523 INIST</idno>
<idno type="RBID">Pascal:03-0424523</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">005224</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000F02</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">004E85</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">004E85</idno>
<idno type="wicri:doubleKey">0168-9525:2003:Ropers H:nonsyndromic:x:linked</idno>
<idno type="wicri:Area/Main/Merge">00BE70</idno>
<idno type="wicri:Area/Main/Curation">00B113</idno>
<idno type="wicri:Area/Main/Exploration">00B113</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Nonsyndromic X-linked mental retardation: where are the missing mutations?</title>
<author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yntema, Helger" sort="Yntema, Helger" uniqKey="Yntema H" first="Helger" last="Yntema">Helger Yntema</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 20</s1>
<s2>6500 HB Nijmegen</s2>
<s3>NLD</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 20</s1>
<s2>6500 HB Nijmegen</s2>
<s3>NLD</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Center for Human Genetics, University Hospital Leuven, U.Z. Gasthuisberg, Herestraat 49</s1>
<s2>3000 Leuven</s2>
<s3>BEL</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province du Brabant flamand</region>
<settlement type="city">Louvain</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>INSERMA U129-ICGM, Faculté de Médécine Cochin, 24 rue du Faubourg Saint-Jacques</s1>
<s2>75014 Paris</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75014 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Hunter Genetics and University of Newcastle, PO Box 84</s1>
<s2>Waratah, New South Wales, 2298</s2>
<s3>AUS</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Waratah, New South Wales, 2298</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital 72, King William Road</s1>
<s2>North Adelaide, SA 5006</s2>
<s3>AUS</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>North Adelaide, SA 5006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Service de Génétique, CHU Bretonneau, INSERM U316 2 Boulevard Tonnellé</s1>
<s2>37044 Tours</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>37044 Tours</wicri:noRegion>
<wicri:noRegion>INSERM U316 2 Boulevard Tonnellé</wicri:noRegion>
<wicri:noRegion>37044 Tours</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Trends in genetics : (Regular ed.)</title>
<title level="j" type="abbreviated">Trends genet. : (Regul. ed.)</title>
<idno type="ISSN">0168-9525</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Trends in genetics : (Regular ed.)</title>
<title level="j" type="abbreviated">Trends genet. : (Regul. ed.)</title>
<idno type="ISSN">0168-9525</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic mapping</term>
<term>Mental retardation</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Carte génétique</term>
<term>Mutation</term>
<term>Arriération mentale</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Pays-Bas</li>
</country>
<region><li>Berlin</li>
<li>Province du Brabant flamand</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Louvain</li>
<li>Paris</li>
</settlement>
</list>
<tree><country name="Allemagne"><region name="Berlin"><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name>
</region>
<name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name>
<name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Yntema, Helger" sort="Yntema, Helger" uniqKey="Yntema H" first="Helger" last="Yntema">Helger Yntema</name>
</noRegion>
<name sortKey="Hamel, Ben" sort="Hamel, Ben" uniqKey="Hamel B" first="Ben" last="Hamel">Ben Hamel</name>
</country>
<country name="Belgique"><region name="Province du Brabant flamand"><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
</region>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
</region>
<name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
</country>
<country name="Australie"><noRegion><name sortKey="Partington, Michael" sort="Partington, Michael" uniqKey="Partington M" first="Michael" last="Partington">Michael Partington</name>
</noRegion>
<name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00B113 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00B113 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:03-0424523
   |texte=   Nonsyndromic X-linked mental retardation: where are the missing mutations?
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur les relations entre la France et l'Australie

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri