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Jaureguiberry, Graciana [Author]; De la Dure-Molla, Muriel [Author]; Parry, David [Author]; Quentric, Mickael [Author]; Himmerkus, Nina [Author]; Koike, Toshiyasu [Author]; Poulter, James [Author]; Klootwijk, Enriko [Author]; Robinette, Steven L. [Author]; Howie, Alexander J. [Author]; Patel, Vaksha [Author]; Figueres, Marie-Lucile [Author]; Stanescu, Horia C. [Author]; Issler, Naomi [Author]; Nicholson, Jeremy K. [Author]; Bockenhauer, Detlef [Author]; Laing, Christopher [Author]; Walsh, Stephen B. [Author]; McCredie, David A. [Author]; Povey, Sue [Author]; Asselin, Audrey [Author]; Picard, Arnaud [Author]; Coulomb, Aurore [Author]; Medlar, Alan J. [Author]; [...]

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

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https://nbn-resolving.org/urn:nbn:de:gbv:8-mods-2020-00556-0

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Basel: Karger, 23 February 2013

Published in: Nephron. Physiology ; 122 (2012), 1-2
Le Caignec, Cédric; Redon, Richard

Copy number variation goes clinical

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Springer Science and Business Media LLC, 2009

Published in: Genome Biology
Sanchez-Castro, Marta; Pichon, Olivier; Briand, Annaig; Poulain, Damien; Gournay, Véronique; David, Albert; Caignec, Cédric Le

Disruption of theSEMA3DGene in a Patient with Congenital Heart Defects

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Hindawi Limited, 2015

Published in: Human Mutation
Molin, Arnaud; Lopez‐Cazaux, Serena; Pichon, Olivier; Vincent, Marie; Isidor, Bertrand; Le Caignec, Cédric

Patients with isolated oligo/hypodontia caused by RUNX2 duplication

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Wiley, 2015

Published in: American Journal of Medical Genetics Part A
Shimojima, Keiko; Isidor, Bertrand; Le Caignec, Cédric; Kondo, Akiko; Sakata, Shinji; Ohno, Kousaku; Yamamoto, Toshiyuki

Corrigendum to “A New Microdeletion Syndrome of 5q31.3 Characterized by Severe Developmental Delays, Distinctive Facial Features, and Delayed Myelination”

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Wiley, 2011

Published in: American Journal of Medical Genetics Part A
Isidor, Bertrand; Barbarot, Sébastien; Bénéteau, Claire; Le Caignec, Cédric; David, Albert

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome

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Wiley, 2011

Published in: American Journal of Medical Genetics Part A
Shimojima, Keiko; Isidor, Bertrand; Le Caignec, Cédric; Kondo, Akiko; Sakata, Shinji; Ohno, Kousaku; Yamamoto, Toshiyuki

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

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Wiley, 2011

Published in: American Journal of Medical Genetics Part A
Isidor, Bertrand; Pichon, Olivier; Baron, Sabine; David, Albert; Le Caignec, Cédric

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

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Wiley, 2010

Published in: American Journal of Medical Genetics Part A
Le Caignec, Cédric; Kwiatkowski, David J; Küry, Sébastien; Hardouin, Jean-Benoit; Melki, Judith; David, Albert

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

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Springer Science and Business Media LLC, 2009

Published in: European Journal of Human Genetics
Isidor, Bertrand; Guillard, Sophie; Hamel, Antoine; Le Caignec, Cedric; David, Albert

Genochondromatosis type II: Report of a new patient and further delineation of the phenotype

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Wiley, 2007

Published in: American Journal of Medical Genetics Part A
Caignec, Cédric Le; Winer, Norbert; Philippe, Henri‐Jean; Rival1, Jean‐Marie

Two independent rare events—a mutation in the RUNX2 gene and a de novo balanced translocation—in a fetus with cleidocranial dysplasia: pitfall in prenatal diagnosis

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Wiley, 2006

Published in: Prenatal Diagnosis
Vincent, Marie; Karolak, Justyna A.; Deutsch, Gail; Gambin, Tomasz; Popek, Edwina; Isidor, Bertrand; Szafranski, Przemyslaw; Le Caignec, Cedric; Stankiewicz, Paweł

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

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American Thoracic Society, 2019

Published in: American Journal of Respiratory and Critical Care Medicine
Latypova, Xénia; Bordereau, Sylvain; Bleriot, Alice; Pichon, Olivier; Poulain, Damien; Briand, Annaïg; Le Caignec, Cédric; Isidor, Bertrand

Mandibular dysostosis without microphthalmia caused by OTX2 deletion

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Wiley, 2016

Published in: American Journal of Medical Genetics Part A
Vergult, Sarah; Dheedene, Annelies; Meurs, Alfred; Faes, Fran; Isidor, Bertrand; Janssens, Sandra; Gautier, Agnès; Le Caignec, Cédric; Menten, Björn

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

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Springer Science and Business Media LLC, 2015

Published in: European Journal of Human Genetics
Beneteau, Claire; Baron, Sabine; David, Albert; Jossic, Frédérique; Poulain, Damien; Schmitt, Sébastien; Leclair, Marc‐David; Piloquet, Philippe; Le Caignec, Cédric

Constitutional telomeric association (Y;7) in a patient with a female phenotype

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Wiley, 2013

Published in: American Journal of Medical Genetics Part A
Isidor, Bertrand; Lefebvre, Tiphaine; Barbarot, Sébastien; Perrier, Julie; Mercier, Sandra; Péréon, Yann; Le Caignec, Cédric; David, Albert

Palmo‐Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X‐linked inheritance

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Wiley, 2013

Published in: American Journal of Medical Genetics Part A
Isidor, Bertrand; Villa, Olaya; Pichon, Olivier; Briand, Annaig; Poulain, Damien; Boisseau, Pierre; Pérez‐Jurado, Luis Alberto; Le Caignec, Cédric

De novo duplication and deletions at 7q in a three‐generation family

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Wiley, 2012

Published in: American Journal of Medical Genetics Part A
Lecointre, Claire; Pichon, Olivier; Hamel, Antoine; Heloury, Yves; Michel‐Calemard, Laurence; Morel, Yves; David, Albert; Le Caignec, Cédric

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

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Wiley, 2009

Published in: American Journal of Medical Genetics Part A
Le Caignec, Cedric; Delnatte, Capucine; Vermeesch, Joris R.; Boceno, Michelle; Joubert, Madeleine; Lavenant, Francoise; David, Albert; Rival, Jean‐Marie

Complete sex reversal in a WAGR syndrome patient

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Wiley, 2007

Published in: American Journal of Medical Genetics Part A
Le Caignec, Cedric; Isidor, Bertrand; de Pontbriand, Ulrika; David, Valerie; Audrezet, Marie‐Pierre; Ferec, Claude; David, Albert

Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth

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Wiley, 2007

Published in: American Journal of Medical Genetics Part A

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