Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Identifieur interne : 000D74 ( Ncbi/Checkpoint ); précédent : 000D73; suivant : 000D75Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Auteurs : Isabelle Perrault [France] ; Sophie Saunier [France] ; Sylvain Hanein [France] ; Emilie Filhol [France] ; Albane A. Bizet [France] ; Felicity Collins [Australie] ; Mustafa A. M. Salih [Arabie saoudite] ; Sylvie Gerber [France] ; Nathalie Delphin [France] ; Karine Bigot [France] ; Christophe Orssaud [France] ; Eduardo Silva [Portugal] ; Véronique Baudouin [France] ; Machteld M. Oud [Pays-Bas] ; Nora Shannon [Royaume-Uni] ; Martine Le Merrer [France] ; Olivier Roche [France] ; Christine Pietrement [France] ; Jamal Goumid [France] ; Clarisse Baumann [France] ; Christine Bole-Feysot [France] ; Patrick Nitschke [France] ; Mohammed Zahrate [France] ; Philip Beales [Royaume-Uni] ; Heleen H. Arts [Pays-Bas] ; Arnold Munnich [France] ; Josseline Kaplan [France] ; Corinne Antignac [France] ; Valérie Cormier-Daire [France] ; Jean-Michel Rozet [France]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2012.
Abstract
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified
Url:
DOI: 10.1016/j.ajhg.2012.03.006
PubMed: 22503633
PubMed Central: 3376548
Affiliations:
- Arabie saoudite, Australie, France, Pays-Bas, Portugal, Royaume-Uni
- Angleterre, Grand Londres, Gueldre, Île-de-France
- Londres, Nimègue, Paris
- University College de Londres
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001197
- to stream Pmc, to step Curation: 001058
- to stream Pmc, to step Checkpoint: 001E57
- to stream Ncbi, to step Merge: 000D74
- to stream Ncbi, to step Curation: 000D74
Links to Exploration step
PMC:3376548Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mainzer-Saldino Syndrome Is a Ciliopathy Caused by <italic>IFT140</italic> Mutations</title><author><name sortKey="Perrault, Isabelle" sort="Perrault, Isabelle" uniqKey="Perrault I" first="Isabelle" last="Perrault">Isabelle Perrault</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation wicri:level="3"><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U983, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name><affiliation wicri:level="3"><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U983, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name><affiliation wicri:level="3"><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U983, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea><wicri:noRegion>NSW 2145</wicri:noRegion></affiliation></author><author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name><affiliation wicri:level="1"><nlm:aff id="aff4">Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia</nlm:aff><country xml:lang="fr">Arabie saoudite</country><wicri:regionArea>Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461</wicri:regionArea><wicri:noRegion>Riyadh 11461</wicri:noRegion></affiliation></author><author><name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name><affiliation wicri:level="1"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name><affiliation wicri:level="1"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name><affiliation wicri:level="1"><nlm:aff id="aff5">Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Ophthalmology, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name><affiliation wicri:level="1"><nlm:aff id="aff7">Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra</wicri:regionArea><wicri:noRegion>3000-548 Coimbra</wicri:noRegion></affiliation></author><author><name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name><affiliation wicri:level="1"><nlm:aff id="aff8">Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name><affiliation wicri:level="3"><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name><affiliation wicri:level="1"><nlm:aff id="aff10">Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Service, City Hospital, Nottingham NG5 1PB</wicri:regionArea><wicri:noRegion>Nottingham NG5 1PB</wicri:noRegion></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation wicri:level="1"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Ophthalmology, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name><affiliation wicri:level="1"><nlm:aff id="aff11">Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex</wicri:regionArea><wicri:noRegion>51092 Reims Cedex</wicri:noRegion><wicri:noRegion>51092 Reims Cedex</wicri:noRegion></affiliation></author><author><name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, CHU Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, CHU Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation wicri:level="1"><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Foundation and Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation wicri:level="1"><nlm:aff id="aff14">Bioinformatics Platform, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bioinformatics Platform, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name><affiliation wicri:level="1"><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Foundation and Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name><affiliation wicri:level="4"><nlm:aff id="aff15">Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name><affiliation wicri:level="3"><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation wicri:level="3"><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U983, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22503633</idno><idno type="pmc">3376548</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376548</idno><idno type="RBID">PMC:3376548</idno><idno type="doi">10.1016/j.ajhg.2012.03.006</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001197</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001197</idno><idno type="wicri:Area/Pmc/Curation">001058</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001058</idno><idno type="wicri:Area/Pmc/Checkpoint">001E57</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001E57</idno><idno type="wicri:Area/Ncbi/Merge">000D74</idno><idno type="wicri:Area/Ncbi/Curation">000D74</idno><idno type="wicri:Area/Ncbi/Checkpoint">000D74</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mainzer-Saldino Syndrome Is a Ciliopathy Caused by <italic>IFT140</italic> Mutations</title><author><name sortKey="Perrault, Isabelle" sort="Perrault, Isabelle" uniqKey="Perrault I" first="Isabelle" last="Perrault">Isabelle Perrault</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation wicri:level="3"><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U983, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name><affiliation wicri:level="3"><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U983, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name><affiliation wicri:level="3"><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U983, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea><wicri:noRegion>NSW 2145</wicri:noRegion></affiliation></author><author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name><affiliation wicri:level="1"><nlm:aff id="aff4">Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia</nlm:aff><country xml:lang="fr">Arabie saoudite</country><wicri:regionArea>Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh 11461</wicri:regionArea><wicri:noRegion>Riyadh 11461</wicri:noRegion></affiliation></author><author><name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name><affiliation wicri:level="1"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name><affiliation wicri:level="1"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name><affiliation wicri:level="1"><nlm:aff id="aff5">Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie (CERTO), 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Ophthalmology, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name><affiliation wicri:level="1"><nlm:aff id="aff7">Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Ophthalmology, Coimbra University Hospital, 3000-548 Coimbra</wicri:regionArea><wicri:noRegion>3000-548 Coimbra</wicri:noRegion></affiliation></author><author><name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name><affiliation wicri:level="1"><nlm:aff id="aff8">Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name><affiliation wicri:level="3"><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name><affiliation wicri:level="1"><nlm:aff id="aff10">Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Service, City Hospital, Nottingham NG5 1PB</wicri:regionArea><wicri:noRegion>Nottingham NG5 1PB</wicri:noRegion></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation wicri:level="1"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Ophthalmology, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Ophthalmology, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name><affiliation wicri:level="1"><nlm:aff id="aff11">Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Pediatrics, American Memorial Hospital, CHU Reims, 51092 Reims Cedex</wicri:regionArea><wicri:noRegion>51092 Reims Cedex</wicri:noRegion><wicri:noRegion>51092 Reims Cedex</wicri:noRegion></affiliation></author><author><name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, CHU Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation wicri:level="1"><nlm:aff id="aff12">Department of Genetics, CHU Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics, CHU Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation wicri:level="1"><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Foundation and Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation wicri:level="1"><nlm:aff id="aff14">Bioinformatics Platform, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bioinformatics Platform, Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name><affiliation wicri:level="1"><nlm:aff id="aff13">Genomics Platform,<italic>Imagine</italic> Foundation and Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea> Foundation and Paris Descartes University, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name><affiliation wicri:level="4"><nlm:aff id="aff15">Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH</wicri:regionArea><orgName type="university">University College de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name><affiliation wicri:level="3"><nlm:aff id="aff9">Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Genetics, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation wicri:level="3"><nlm:aff id="aff2">INSERM, U983, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U983, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name><affiliation wicri:level="3"><nlm:aff id="aff1">INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U781 & Department of Genetics, Paris Descartes University, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified <italic>IFT140</italic> mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.</p></div></front></TEI><affiliations><list><country><li>Arabie saoudite</li><li>Australie</li><li>France</li><li>Pays-Bas</li><li>Portugal</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Gueldre</li><li>Île-de-France</li></region><settlement><li>Londres</li><li>Nimègue</li><li>Paris</li></settlement><orgName><li>University College de Londres</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Perrault, Isabelle" sort="Perrault, Isabelle" uniqKey="Perrault I" first="Isabelle" last="Perrault">Isabelle Perrault</name></region><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name><name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name><name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name><name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name><name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name><name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name><name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name><name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name></country><country name="Australie"><noRegion><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name></noRegion></country><country name="Arabie saoudite"><noRegion><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name></noRegion></country><country name="Portugal"><noRegion><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name></noRegion></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name></region><name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name></noRegion><name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000D74 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 000D74 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Ncbi
|étape= Checkpoint
|type= RBID
|clé= PMC:3376548
|texte= Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:22503633" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |