Caroline Rooryck

Caroline Rooryck

UNVERIFIED PROFILE

Are you Caroline Rooryck?   Register this Author

Register author
Caroline Rooryck

Caroline Rooryck

Publications by authors named "Caroline Rooryck"

Are you Caroline Rooryck?   Register this Author

70Publications

2549Reads

23Profile Views

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0330-z
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2019 May;12(5):e002500

Département de génétique médicale, APHM, Hôpital d'enfants de la Timone, Marseille, France. Aix Marseille University, INSERM, Marseille Medical Genetics, Faculté de Médecine, France (K.N., S.R., D.S., J.-P.D., M.C., F.M., C.B., N.L.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.119.002500DOI Listing
May 2019

Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders.

Sci Rep 2018 11 30;8(1):17492. Epub 2018 Nov 30.

University Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, F-33000, Bordeaux, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41598-018-35681-0
Publisher Site
http://dx.doi.org/10.1038/s41598-018-35681-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269437PMC
November 2018

Arrhythmogenic Remodeling of the Left Ventricle in a Porcine Model of Repaired Tetralogy of Fallot.

Circ Arrhythm Electrophysiol 2018 10;11(10):e006059

IHU LIRYC, L'Institut de Rythmologie et Modélisation Cardiaque, Fondation Bordeaux Université, Pessac, France (V.D., D.B., F.R., S.H.G., M.C., S.C., D.E., B.Q., H.C., M.H., C.R., P.B., J.-B.T., O.B.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCEP.117.006059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553519PMC
October 2018

Molecular characterization of a series of 990 index patients with albinism.

Pigment Cell Melanoma Res 2018 07 14;31(4):466-474. Epub 2018 Feb 14.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12688DOI Listing
July 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Early fetal presentation of Koolen-de Vries: Case report with literature review.

Eur J Med Genet 2017 Nov 12;60(11):605-609. Epub 2017 Aug 12.

Department of Pathology, Bordeaux University Hospital, Pellegrin Hospital, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.08.012DOI Listing
November 2017

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

Clin Dysmorphol 2017 Oct;26(4):231-234

aDepartment of Medical Genetics, CHU Bordeaux bCaribbean Reference Center for rare neuromuscular and neurologic diseases (CeRCa), CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex cMultidisciplinary Center for Prenatal Diagnosis (CPDP) - Mother and Children's Hospital - CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex dINSERM U1211, University of Bordeaux, 33076 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000192DOI Listing
October 2017

A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

Eur J Hum Genet 2017 09 14;25(9):1083-1086. Epub 2017 Jun 14.

Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, University Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2017.101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558169PMC
September 2017

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

Mutations in , encoding the myelin transcription factor 1, are a rare cause of OAVS.

J Med Genet 2016 Nov 29;53(11):752-760. Epub 2016 Jun 29.

University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-103774DOI Listing
November 2016

Identification of Region-Specific Myocardial Gene Expression Patterns in a Chronic Swine Model of Repaired Tetralogy of Fallot.

PLoS One 2015 7;10(8):e0134146. Epub 2015 Aug 7.

L'Institut de Rythmologie et Modélisation Cardiaque LIRYC, Université de Bordeaux, Pessac, France; Hôpital cardiologique Haut-Lévêque, CHU de Bordeaux, Pessac, France; Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576, Université de Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0134146PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529093PMC
May 2016

Understanding flow patterns and inflammatory status in intracranial aneurysms: Towards a personalized medicine.

J Neuroradiol 2016 Mar 14;43(2):141-7. Epub 2015 Nov 14.

Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurad.2015.09.005DOI Listing
March 2016

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Pigment Cell Melanoma Res 2016 Jan 24;29(1):107-9. Epub 2015 Oct 24.

Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, University Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12408DOI Listing
January 2016

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

J Cardiovasc Electrophysiol 2015 Oct 1;26(10):1146-50. Epub 2015 Sep 1.

LIRYC, L'Institut de rythmologie et modélisation cardiaque, Université de Bordeaux INSERM, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jce.12763DOI Listing
October 2015

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus.

Proc Natl Acad Sci U S A 2015 Jun 8;112(25):E3207-15. Epub 2015 Jun 8.

Institut National de la santé et de la Recherche Médicale (INSERM, U1036), Grenoble, France F-38000; Commissariat à l'Énergie Atomique et aux Energies Alternatives, Institut de Recherches en Technologies et Sciences pour le Vivant, Laboratoire Biologie du Cancer et de l'Infection, Grenoble, France F-38000; Université Grenoble-Alpes, Grenoble, France F-38000;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1508386112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485134PMC
June 2015

SCA27 is a cause of early-onset ataxia and developmental delay.

Eur J Paediatr Neurol 2015 Mar 5;19(2):271-3. Epub 2014 Dec 5.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.11.013DOI Listing
March 2015

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Eur J Hum Genet 2015 Feb 11;23(2):252-5. Epub 2014 Jun 11.

1] Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France [2] Centre de Référence du Syndrome de Prader-Willi, Toulouse, France [3] Unité d'Endocrinologie, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297892PMC
February 2015

Comparison of resting and exercise echocardiographic parameters as indicators of outcomes in hypertrophic cardiomyopathy.

J Am Soc Echocardiogr 2015 Feb 20;28(2):194-203. Epub 2014 Nov 20.

Cardiologic Hospital CHU Bordeaux - CIC0005, Bordeaux University, Pessac, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.echo.2014.10.001DOI Listing
February 2015

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

Mol Genet Metab 2013 Sep-Oct;110(1-2):90-7. Epub 2013 Jul 20.

CHU Bordeaux, Service de Génétique Médicale, Place Amélie Raba Léon, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.07.013DOI Listing
March 2014

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

J Invest Dermatol 2014 Feb 28;134(2):568-571. Epub 2013 Aug 28.

Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2013.360DOI Listing
February 2014

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

Pigment Cell Melanoma Res 2014 Jan 23;27(1):59-71. Epub 2013 Oct 23.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France; Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Univ. Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pcmr.12173DOI Listing
January 2014

Prenatal diagnosis using array-CGH: a French experience.

Eur J Med Genet 2013 Jul 20;56(7):341-5. Epub 2013 Feb 20.

CHU Bordeaux, Génétique médicale, F-33000 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.02.003DOI Listing
July 2013

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Eur J Med Genet 2012 May 8;55(5):313-8. Epub 2012 Feb 8.

CHU Bordeaux, Centre de référence des anomalies du développement embryonnaire, Service de Génétique Médicale, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.01.018DOI Listing
May 2012

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Eur J Med Genet 2012 Feb 3;55(2):135-9. Epub 2011 Dec 3.

CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.11.006DOI Listing
February 2012

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Eur J Med Genet 2012 Feb 5;55(2):151-5. Epub 2012 Jan 5.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux cedex, France.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972121200002
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2011.12.009DOI Listing
February 2012

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

Eur J Med Genet 2011 Jul-Aug;54(4):e437-40. Epub 2011 Apr 19.

Nephrology and Immunology Department, University Hospital of Rangueil, Toulouse, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.03.010DOI Listing
October 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Brachydactyly type A1 with short humerus and associated skeletal features.

Am J Med Genet A 2010 Dec;152A(12):3016-21

Department Genetics, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33761DOI Listing
December 2010

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Am J Med Genet A 2010 Aug;152A(8):1984-9

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33491
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33491DOI Listing
August 2010

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

Eur J Med Genet 2010 Mar-Apr;53(2):104-7. Epub 2010 Feb 2.

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2010.01.003DOI Listing
July 2010

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

Eur J Med Genet 2009 Nov-Dec;52(6):446-9. Epub 2009 Sep 3.

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.08.005DOI Listing
February 2010

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

Clin Dysmorphol 2009 Apr;18(2):116-9

Department of Medical genetics, National Reference Center for Congenital Anomalies of Development, Université Victor Segalen Bordeaux, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32831da7abDOI Listing
April 2009

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

Pigment Cell Res 2006 Jun;19(3):239-42

Service de Génétique Médicale, Centre Hospitalier Universitaire, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1600-0749.2006.00298.xDOI Listing
June 2006

SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.

J Pediatr Gastroenterol Nutr 2005 Jul;41(1):117-20

Unité de Gastroentérologie Pédiatrique, Hôpital Pellegrin, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.mpg.0000151762.51287.7dDOI Listing
July 2005

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Eur J Hum Genet 2004 Mar;12(3):245-50

Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, F-33076, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201128DOI Listing
March 2004