L
Laurence Colleaux
Researcher at Paris Descartes University
Publications - 125
Citations - 9351
Laurence Colleaux is an academic researcher from Paris Descartes University. The author has contributed to research in topics: Gene & Microcephaly. The author has an hindex of 52, co-authored 123 publications receiving 8469 citations. Previous affiliations of Laurence Colleaux include Western General Hospital & French Institute of Health and Medical Research.
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Journal ArticleDOI
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Charles Shaw-Smith,Richard Redon,L Rickman,Marlène Rio,Lionel Willatt,Heike Fiegler,Helen V. Firth,Damien Sanlaville,R Winter,Laurence Colleaux,Martin Bobrow,Nigel P. Carter +11 more
TL;DR: It is anticipated that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability and dysmorphism.
Journal ArticleDOI
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Giulia Barcia,Matthew R. Fleming,Aline Deligniere,Valeswara-Rao Gazula,Maile R. Brown,Maéva Langouët,Haijun Chen,Jack Kronengold,Avinash Abhyankar,Roberta Cilio,Patrick Nitschké,Anna Kaminska,Nathalie Boddaert,Jean-Laurent Casanova,Isabelle Desguerre,Arnold Munnich,Olivier Dulac,Olivier Dulac,Leonard K. Kaczmarek,Laurence Colleaux,Rima Nabbout,Rima Nabbout +21 more
TL;DR: Exome sequencing in three probands with MMPSI and de novo gain-of-function mutations affecting the C-terminal domain of the KCNT1 potassium channel were identified, which led to constitutive activation of the channel.
Journal ArticleDOI
Complete Dna-Sequence Of Yeast Chromosome-Xi
Bernard Dujon,Despina Alexandraki,Bruno André,W. Ansorge,Victoriano Baladrón,Juan P. G. Ballesta,Andrea Banrevi,P. A. Bolle,Monique Bolotin-Fukuhara,Peter Bossier,Germán Bou,J. Boyer,M. J. Buitrago,Geneviève Chéret,Laurence Colleaux,B. Dalgnan-Fornier,F. del Rey,Caroline Dion,H. Domdey,A. Düsterhöft,S. Düsterhus,K. D. Entian,Holger Erfle,Pedro F. Esteban,Heidi Feldmann,L. Fernandes,G. M. Fobo,C. Fritz,Hiroshi Fukuhara,C. Gabel,L. Gaillon,J. M. Carcia-Cantalejo,José J. García-Ramírez,Manda E. Gent,Marjan Ghazvini,Marjan Ghazvini,André Goffeau,A. Gonzaléz,Dietmar Grothues,Paulo Guerreiro,Johannes H. Hegemann,N. Hewitt,François Hilger,Cornelis P. Hollenberg,O. Horaitis,O. Horaitis,Keith J. Indge,Alain Jacquier,C. M. James,J. C. Jauniaux,J. C. Jauniaux,A. Jimenez,H. Keuchel,L. Kirchrath,K. Kleine,Peter Kötter,Pierre Legrain,S. Liebl,Edward J. Louis,A. Maia e Silva,Christian Marck,A.-L. Monnier,D. Mostl,Sylke Müller,B. Obermaier,Stephen G. Oliver,C. Pallier,Steve Pascolo,Steve Pascolo,Friedhelm Pfeiffer,Peter Philippsen,Rudi J. Planta,Fritz M. Pohl,Thomas Pohl,Regina Pohlmann,Daniel Portetelle,Bénédicte Purnelle,V. Puzos,M. Ramezani Rad,S. W. Rasmussen,Miguel Remacha,José L. Revuelta,Guy-Franck Richard,Martin Rieger,Claudina Rodrigues-Pousada,Matthias Rose,Thomas Rupp,Maria A. Santos,Christian Schwager,Christoph Wilhelm Sensen,J. Skala,J. Skala,Helena Soares,Frédéric Sor,J. Stegemann,Hervé Tettelin,Alain R. Thierry,M. Tzermia,L. A. Urrestarazu,L Van Dyck,J. C. van Vliet-Reedijk,Michèle Valens,M. Vandenbo,C. Vilela,Stephan Vissers,D. von Wettstein,H. Voss,Stefan Wiemann,G. Xu,Jürgen Zimmermann,M. Haasemann,I. Becker,Hans-Werner Mewes +112 more
TL;DR: The complete DNA sequence of the yeast Saccharomyces cerevisiae chromosome XI has been determined, and the 666,448-base-pair sequence has revealed general chromosome patterns.
Journal ArticleDOI
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Sarah Boissel,Orit Reish,Karine Proulx,Hiroko Kawagoe-Takaki,Barbara Sedgwick,Giles S.H. Yeo,David Meyre,Christelle Golzio,Florence Molinari,Noman Kadhom,Heather C. Etchevers,Vladimir Saudek,I. Sadaf Farooqi,Philippe Froguel,Philippe Froguel,Tomas Lindahl,Stephen O'Rahilly,Arnold Munnich,Laurence Colleaux +18 more
TL;DR: It is shown that a R316Q mutation, inactivating FTO enzymatic activity, is responsible for an autosomal-recessive lethal syndrome and that a mutation in a human member of the AlkB-related dioxygenase family results in a severe polymalformation syndrome.
Journal ArticleDOI
Array‐based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont,Damien Sanlaville,Richard Redon,Odile Raoul,Valérie Cormier-Daire,Stanislas Lyonnet,Jeanne Amiel,M. Le Merrer,Delphine Héron,M-C de Blois,Marguerite Prieur,Michel Vekemans,Nigel P. Carter,Arnold Munnich,Laurence Colleaux,Anne Philippe +15 more
TL;DR: Results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD, and may allow the delineation of new contiguous gene syndromes associated with ASD.