N
N. Drouot
Researcher at Centre national de la recherche scientifique
Publications - 12
Citations - 4085
N. Drouot is an academic researcher from Centre national de la recherche scientifique. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 2, co-authored 2 publications receiving 4038 citations.
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Journal ArticleDOI
A comprehensive genetic map of the human genome based on 5,264 microsatellites
Colette Dib,Sabine Fauré,Cécile Fizames,Delphine Samson,N. Drouot,Alain Vignal,P Millasseau,S Marc,Jamilé Hazan,Eric Seboun,Mark Lathrop,Gabor Gyapay,Jean Morissette,Jean Morissette,Jean Weissenbach +14 more
TL;DR: The last version of the Généthon human linkage map is reported, which consists of 5,264 short tandem repeat polymorphisms with a mean heterozygosity of 70%.
Journal ArticleDOI
A gene map of the human genome
Gregory D. Schuler,Mark S. Boguski,Elizabeth A. Stewart,Lincoln Stein,Gabor Gyapay,Kate Rice,Robert E. White,P. Rodriguez-Tomé,Amita Aggarwal,Eva Bajorek,S. Bentolila,B. B. Birren,Adam Butler,Andrew B. Castle,N. Chiannilkulchai,Angela M. Chu,C M Clee,Sid Cowles,P. J. R. Day,T. Dibling,N. Drouot,Ian Dunham,Simone Duprat,C. East,C A Edwards,Jun Fan,Nicole Y. Fang,Cécile Fizames,Christine Garrett,L. Green,David Hadley,Midori A. Harris,Paul Harrison,Shannon T. Brady,Andrew A. Hicks,E. Holloway,L. Hui,S. Hussain,C. Louis-Dit-Sully,J. Ma,A. MacGilvery,Christopher Mader,A. Maratukulam,Tara C. Matise,K. B. McKusick,Jean Morissette,Andrew J. Mungall,Delphine Muselet,H. C. Nusbaum,David C. Page,Ammon B. Peck,Shanti M. Perkins,Mark Piercy,Fawn Qin,John Quackenbush,S A Ranby,Tim Reif,Steve Rozen,C. Sanders,X. She,James Silva,Donna K. Slonim,Carol Soderlund,W.-L. Sun,P. Tabar,T. Thangarajah,Nathalie Vega-Czarny,Douglas Vollrath,S. Voyticky,T. E. Wilmer,Xiao-Yu Wu,Mark Raymond Adams,Charles Auffray,Nicole A.R. Walter,Rhonda Brandon,Anindya Dehejia,Peter N. Goodfellow,R. Houlgatte,James R. Hudson,Susan E. Ide,K. R. Iorio,Wha‐Young Lee,N. Seki,Takahiro Nagase,K. Ishikawa,N. Nomura,Cheryl Phillips,Mihael H. Polymeropoulos,Mina Sandusky,Karin Schmitt,Richard Berry,K. Swanson,R. Torres,J. C. Venter,James M. Sikela,Jacques S. Beckmann,Jean Weissenbach,Richard M. Myers,David R. Cox,Michael R. James,David Bentley,Panos Deloukas,Eric S. Lander,Thomas J. Hudson,Thomas J. Hudson +104 more
TL;DR: The gene map unifies the existing genetic and physical maps with the nucleotide and protein sequence databases in a fashion that should speed the discovery of genes underlying inherited human disease.
Journal ArticleDOI
Highlighting the Dystonic Phenotype Related to GNAO1
Thomas Wirth,Giacomo Garone,Manju A. Kurian,Amélie Piton,Francisca Millan,Aida Telegrafi,N. Drouot,Gabrielle Rudolf,Jamel Chelly,Warren A. Marks,Lydie Burglen,Diane Demailly,Phillipe Coubes,Mayte Castro-Jiménez,Sylvie Joriot,Jamal Ghoumid,Jeremie Belin,Jean-Marc Faucheux,Lubov Blumkin,Mariam Hull,Mered Parnes,Claudia Ravelli,Gaëtan Poulen,Nadège Calmels,Andrea H. Németh,Martin P. Smith,Angela Barnicoat,Claire Ewenczyk,Aurélie Méneret,Emmanuel Roze,Boris Keren,Cyril Mignot,Christophe Béroud,Fernando Acosta,Catherine Nowak,William G. Wilson,Dora Steel,Alessandro Capuano,Marie Vidailhet,Jean-Pierre Lin,Christine Tranchant,Laura Cif,Diane Doummar,Mathieu Anheim +43 more
TL;DR: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea.
Journal ArticleDOI
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Elsa Leitão,Christopher Schröder,Ilaria Parenti,Carine Dalle,Agnès Rastetter,Theresa Kühnel,Alma Kuechler,Sabine Kaya,Bénédicte Gérard,Elise Schaefer,Caroline Nava,N. Drouot,Camille Engel,Juliette Piard,Bénédicte Duban-Bedu,Laurent Villard,Alexander P.A. Stegmann,Els K. Vanhoutte,Job Verdonschot,Frank J. Kaiser,Frédéric Tran Mau-Them,Marcello Scala,Pasquale Striano,Suzanna G.M. Frints,Emanuela Argilli,Elliott H. Sherr,Fikret Elder,Julien Buratti,Boris Keren,Cyril Mignot,Delphine Héron,Jean-Louis Mandel,Jozef Gecz,Vera M. Kalscheuer,Bernhard Horsthemke,Amélie Piton,Christel Depienne +36 more
TL;DR: In this paper , a systematic analysis of human chrX genes was carried out to identify disease-associated genes on chromosome (chr) X compared to autosomes, and a large-scale gene-disease association was predicted.
Journal ArticleDOI
De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia
Thomas Wirth,Aurélie Méneret,N. Drouot,Gabrielle Rudolf,Ouhaid Lagha Boukbiza,Jamel Chelly,Christine Tranchant,Amélie Piton,Emmanuel Roze,Mathieu Anheim +9 more
TL;DR: This research presents a novel and exciting new approach to personalized medicine called “cell reprograming” that allows for real-time annotation of the FISH signal in the genome of a single cell.