Showing 1–50 of 53 results
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Research |
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
- Henri Margot
- , Guilaine Boursier
- , Claire Duflos
- , Elodie Sanchez
- , Jeanne Amiel
- , Jean-Christophe Andrau
- , Stéphanie Arpin
- , Elise Brischoux-Boucher
- , Odile Boute
- , Lydie Burglen
- , Charlotte Caille
- , Yline Capri
- , Patrick Collignon
- , Solène Conrad
- , Valérie Cormier-Daire
- , Geoffroy Delplancq
- , Klaus Dieterich
- , Hélène Dollfus
- , Mélanie Fradin
- , Laurence Faivre
- , Helder Fernandes
- , Christine Francannet
- , Vincent Gatinois
- , Marion Gerard
- , Alice Goldenberg
- , Jamal Ghoumid
- , Sarah Grotto
- , Anne-Marie Guerrot
- , Agnès Guichet
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Sophie Julia
- , Philippe Khau Van Kien
- , Marine Legendre
- , K. H. Le Quan Sang
- , Bruno Leheup
- , Stanislas Lyonnet
- , Virginie Magry
- , Sylvie Manouvrier
- , Dominique Martin
- , Godelieve Morel
- , Arnold Munnich
- , Sophie Naudion
- , Sylvie Odent
- , Laurence Perrin
- , Florence Petit
- , Nicole Philip
- , Marlène Rio
- , Julie Robbe
- , Massimiliano Rossi
- , Elisabeth Sarrazin
- , Annick Toutain
- , Julien Van Gils
- , Gabriella Vera
- , Alain Verloes
- , Sacha Weber
- , Sandra Whalen
- , Damien Sanlaville
- , Didier Lacombe
- , Nathalie Aladjidi
- & David Geneviève
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Amendments and Corrections |
Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome
- Quitterie Venot
- , Thomas Blanc
- , Smail Hadj Rabia
- , Laureline Berteloot
- , Sophia Ladraa
- , Jean-Paul Duong
- , Estelle Blanc
- , Simon C. Johnson
- , Clément Hoguin
- , Olivia Boccara
- , Sabine Sarnacki
- , Nathalie Boddaert
- , Stephanie Pannier
- , Frank Martinez
- , Sato Magassa
- , Junna Yamaguchi
- , Bertrand Knebelmann
- , Pierre Merville
- , Nicolas Grenier
- , Dominique Joly
- , Valérie Cormier-Daire
- , Caroline Michot
- , Christine Bole-Feysot
- , Arnaud Picard
- , Véronique Soupre
- , Stanislas Lyonnet
- , Jeremy Sadoine
- , Lotfi Slimani
- , Catherine Chaussain
- , Cécile Laroche-Raynaud
- , Laurent Guibaud
- , Christine Broissand
- , Jeanne Amiel
- , Christophe Legendre
- , Fabiola Terzi
- & Guillaume Canaud
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Amendments and Corrections |
Correction: Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- , Juliette Albuisson
- , Annekatrien Boel
- , Mazen Al-Essa
- , Waheed Al-Manea
- , Damien Bonnet
- , Ozlem Bostan
- , Odile Boute
- , Tiffany Busa
- , Nathalie Canham
- , Ergun Cil
- , Paul J. Coucke
- , Margot A. Cousin
- , Majed Dasouki
- , Julie De Backer
- , Anne De Paepe
- , Sofie De Schepper
- , Deepthi De Silva
- , Koenraad Devriendt
- , Inge De Wandele
- , David R. Deyle
- , Harry Dietz
- , Sophie Dupuis-Girod
- , Eudice Fontenot
- , Björn Fischer-Zirnsak
- , Alper Gezdirici
- , Jamal Ghoumid
- , Fabienne Giuliano
- , Neus Baena
- , Mohammed Z. Haider
- , Joshua S. Hardin
- , Xavier Jeunemaitre
- , Eric W. Klee
- , Uwe Kornak
- , Manuel F. Landecho
- , Anne Legrand
- , Bart Loeys
- , Stanislas Lyonnet
- , Helen Michael
- , Pamela Moceri
- , Shehla Mohammed
- , Laura Muiño-Mosquera
- , Sheela Nampoothiri
- , Karin Pichler
- , Katrina Prescott
- , Anna Rajeb
- , Maria Ramos-Arroyo
- , Massimiliano Rossi
- , Mustafa Salih
- , Mohammed Z. Seidahmed
- , Elise Schaefer
- , Elisabeth Steichen-Gersdorf
- , Sehime Temel
- , Fahrettin Uysal
- , Marine Vanhomwegen
- , Lut Van Laer
- , Lionel Van Maldergem
- , David Warner
- , Andy Willaert
- , Tom R. Collins II
- , Andrea Taylor
- , Elaine C. Davis
- , Yuri Zarate
- & Bert Callewaert
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Research |
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
- Laura Castilla-Vallmanya
- , Kaja K. Selmer
- , Clémantine Dimartino
- , Raquel Rabionet
- , Bernardo Blanco-Sánchez
- , Sandra Yang
- , Margot R. F. Reijnders
- , Antonie J. van Essen
- , Myriam Oufadem
- , Magnus D. Vigeland
- , Barbro Stadheim
- , Gunnar Houge
- , Helen Cox
- , Helen Kingston
- , Jill Clayton-Smith
- , Jeffrey W. Innis
- , Maria Iascone
- , Anna Cereda
- , Sara Gabbiadini
- , Wendy K. Chung
- , Victoria Sanders
- , Joel Charrow
- , Emily Bryant
- , John Millichap
- , Antonio Vitobello
- , Christel Thauvin
- , Frederic Tran Mau-Them
- , Laurence Faivre
- , Gaetan Lesca
- , Audrey Labalme
- , Christelle Rougeot
- , Nicolas Chatron
- , Damien Sanlaville
- , Katherine M. Christensen
- , Amelia Kirby
- , Raymond Lewandowski
- , Rachel Gannaway
- , Maha Aly
- , Anna Lehman
- , Lorne Clarke
- , Luitgard Graul-Neumann
- , Christiane Zweier
- , Davor Lessel
- , Bernarda Lozic
- , Ingvild Aukrust
- , Ryan Peretz
- , Robert Stratton
- , Thomas Smol
- , Anne Dieux-Coëslier
- , Joanna Meira
- , Elizabeth Wohler
- , Nara Sobreira
- , Erin M. Beaver
- , Jennifer Heeley
- , Lauren C. Briere
- , Frances A. High
- , David A. Sweetser
- , Melissa A. Walker
- , Catherine E. Keegan
- , Parul Jayakar
- , Marwan Shinawi
- , Wilhelmina S. Kerstjens-Frederikse
- , Dawn L. Earl
- , Victoria M. Siu
- , Emma Reesor
- , Tony Yao
- , Robert A. Hegele
- , Olena M. Vaske
- , Shannon Rego
- , Kevin A. Shapiro
- , Brian Wong
- , Michael J. Gambello
- , Marie McDonald
- , Danielle Karlowicz
- , Roberto Colombo
- , Alessandro Serretti
- , Lynn Pais
- , Anne O’Donnell-Luria
- , Alison Wray
- , Simon Sadedin
- , Belinda Chong
- , Tiong Y. Tan
- , John Christodoulou
- , Susan M. White
- , Anne Slavotinek
- , Deborah Barbouth
- , Dayna Morel Swols
- , Mélanie Parisot
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Véronique Pingault
- , Arnold Munnich
- , Megan T. Cho
- , Valérie Cormier-Daire
- , Susanna Balcells
- , Stanislas Lyonnet
- , Daniel Grinberg
- , Jeanne Amiel
- , Roser Urreizti
- & Christopher T. Gordon
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Research |
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
- Marine Legendre
- , Montserrat Rodriguez - Ballesteros
- , Massimiliano Rossi
- , Véronique Abadie
- , Jeanne Amiel
- , Nicole Revencu
- , Patricia Blanchet
- , Frédéric Brioude
- , Marie-Ange Delrue
- , Yassamine Doubaj
- , Abdelaziz Sefiani
- , Christine Francannet
- , Muriel Holder-Espinasse
- , Pierre-Simon Jouk
- , Sophie Julia
- , Judith Melki
- , Sébastien Mur
- , Sophie Naudion
- , Jennifer Fabre-Teste
- , Tiffany Busa
- , Stephen Stamm
- , Stanislas Lyonnet
- , Tania Attie-Bitach
- , Alain Kitzis
- , Brigitte Gilbert-Dussardier
- & Frédéric Bilan
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Research |
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News and Views |
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Research |
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
- Vanessa L Romanelli Tavares
- , Christopher T Gordon
- , Roseli M Zechi-Ceide
- , Nancy Mizue Kokitsu-Nakata
- , Norine Voisin
- , Tiong Y Tan
- , Andrew A Heggie
- , Siulan Vendramini-Pittoli
- , Evan J Propst
- , Blake C Papsin
- , Tatiana T Torres
- , Henk Buermans
- , Luciane Portas Capelo
- , Johan T den Dunnen
- , Maria L Guion-Almeida
- , Stanislas Lyonnet
- , Jeanne Amiel
- & Maria Rita Passos-Bueno
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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
- Julia Lauer Zillhardt
- , Karine Poirier
- , Loïc Broix
- , Nicolas Lebrun
- , Adrienne Elmorjani
- , Jelena Martinovic
- , Yoann Saillour
- , Giuseppe Muraca
- , Juliette Nectoux
- , Bettina Bessieres
- , Catherine Fallet-Bianco
- , Stanislas Lyonnet
- , Olivier Dulac
- , Sylvie Odent
- , Imen Rejeb
- , Lamia Ben Jemaa
- , Francois Rivier
- , Lucile Pinson
- , David Geneviève
- , Yuri Musizzano
- , Nicole Bigi
- , Nicolas Leboucq
- , Fabienne Giuliano
- , Nicole Philip
- , Catheline Vilain
- , Patrick Van Bogaert
- , Hélène Maurey
- , Cherif Beldjord
- , François Artiguenave
- , Anne Boland
- , Robert Olaso
- , Cécile Masson
- , Patrick Nitschké
- , Jean-François Deleuze
- , Nadia Bahi-Buisson
- & Jamel Chelly
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Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
- Marie Cognet
- , Agnés Nougayrede
- , Valérie Malan
- , Patrick Callier
- , Celia Cretolle
- , Laurence Faivre
- , David Genevieve
- , Alice Goldenberg
- , Delphine Heron
- , Sandra Mercier
- , Nicole Philip
- , Sabine Sigaudy
- , Alain Verloes
- , Sabine Sarnacki
- , Arnold Munnich
- , Michel Vekemans
- , Stanislas Lyonnet
- , Heather Etchevers
- , Jeanne Amiel
- & Loïc de Pontual
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Research |
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
- Laurence Colleaux
- , Marlène Rio
- , Solange Heuertz
- , Séverine Moindrault
- , Catherine Turleau
- , Catherine Ozilou
- , Philippe Gosset
- , Odile Raoult
- , Stanislas Lyonnet
- , Valérie Cormier-Daire
- , Jeanne Amiel
- , Martine Le Merrer
- , Monique Picq
- , Marie-Christine de Blois
- , Marguerite Prieur
- , Serge Romana
- , François Cornelis
- , Michel Vekemans
- & Arnold Munnich
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Correspondence |
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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
- Loïc de Pontual
- , Evelyn Yao
- , Patrick Callier
- , Laurence Faivre
- , Valérie Drouin
- , Sandra Cariou
- , Arie Van Haeringen
- , David Geneviève
- , Alice Goldenberg
- , Myriam Oufadem
- , Sylvie Manouvrier
- , Arnold Munnich
- , Joana Alves Vidigal
- , Michel Vekemans
- , Stanislas Lyonnet
- , Alexandra Henrion-Caude
- , Andrea Ventura
- & Jeanne Amiel
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Books and Arts |
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Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome
- Damien Sanlaville
- , David Genevieve
- , Céline Bernardin
- , Jeanne Amiel
- , Clarisse Baumann
- , Marie-Christine de Blois
- , Valérie Cormier-Daire
- , Bénédicte Gerard
- , Marion Gerard
- , Martine Le Merrer
- , Philippe Parent
- , Fabienne Prieur
- , Marguerite Prieur
- , Odile Raoul
- , Annick Toutain
- , Alain Verloes
- , Géraldine Viot
- , Serge Romana
- , Arnold Munnich
- , Stanislas Lyonnet
- , Michel Vekemans
- & Catherine Turleau
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Reviews |
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SOX10 mutations in patients with Waardenburg-Hirschsprung disease
- Véronique Pingault
- , Nadège Bondurand
- , Kirsten Kuhlbrodt
- , Derk E. Goerich
- , Marie-Odette Préhu
- , Aldamaria Puliti
- , Beate Herbarth
- , Irm Hermans-Borgmeyer
- , Eric Legius
- , Gert Matthijs
- , Jeanne Amiel
- , Stanislas Lyonnet
- , Isabella Ceccherini
- , Giovanni Romeo
- , Jill Clayton Smith
- , Andrew P. Read
- , Michael Wegner
- & Michel Goossens
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Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome
- Loic De Pontual
- , Delphine Trochet
- , Sophie Caillat-Zucman
- , Othman A Abou Shenab
- , Pierre Bougneres
- , Yanick Crow
- , Steve Cunningham
- , Blandine Esteva
- , Lada Cindro Heberle
- , Juliane Leger
- , Graziella Pinto
- , Michel Polak
- , Magdy Helmy Shafik
- , Christian Straus
- , Ha Trang
- , Arnold Munnich
- , Stanislas Lyonnet
- , Isabelle Desguerre
- & Jeanne Amiel
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Research | | Open
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
- Najim Lahrouchi
- , Aman George
- , Ilham Ratbi
- , Ronen Schneider
- , Siham C. Elalaoui
- , Shahida Moosa
- , Sanita Bharti
- , Ruchi Sharma
- , Mones Abu-Asab
- , Felix Onojafe
- , Najlae Adadi
- , Elisabeth M. Lodder
- , Fatima-Zahra Laarabi
- , Yassine Lamsyah
- , Hamza Elorch
- , Imane Chebbar
- , Alex V. Postma
- , Vassilios Lougaris
- , Alessandro Plebani
- , Janine Altmueller
- , Henriette Kyrieleis
- , Vardiella Meiner
- , Helen McNeill
- , Kapil Bharti
- , Stanislas Lyonnet
- , Bernd Wollnik
- , Alexandra Henrion-Caude
- , Amina Berraho
- , Friedhelm Hildebrandt
- , Connie R. Bezzina
- , Brian P. Brooks
- & Abdelaziz Sefiani
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Research |
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
- Caroline Michot
- , Carine Le Goff
- , Edward Blair
- , Patricia Blanchet
- , Yline Capri
- , Brigitte Gilbert-Dussardier
- , Alice Goldenberg
- , Alex Henderson
- , Bertrand Isidor
- , Hulya Kayserili
- , Esther Kinning
- , Martine Le Merrer
- , Stanislas Lyonnet
- , Sylvie Odent
- , Pelin Ozlem Simsek-Kiper
- , Chloé Quelin
- , Ravi Savarirayan
- , Marleen Simon
- , Miranda Splitt
- , Judith M.A. Verhagen
- , Alain Verloes
- , Arnold Munnich
- , Geneviève Baujat
- & Valérie Cormier-Daire
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Research |
Targeted therapy in patients with PIK3CA-related overgrowth syndrome
- Quitterie Venot
- , Thomas Blanc
- , Smail Hadj Rabia
- , Laureline Berteloot
- , Sophia Ladraa
- , Jean-Paul Duong
- , Estelle Blanc
- , Simon C. Johnson
- , Clément Hoguin
- , Olivia Boccara
- , Sabine Sarnacki
- , Nathalie Boddaert
- , Stephanie Pannier
- , Frank Martinez
- , Sato Magassa
- , Junna Yamaguchi
- , Bertrand Knebelmann
- , Pierre Merville
- , Nicolas Grenier
- , Dominique Joly
- , Valérie Cormier-Daire
- , Caroline Michot
- , Christine Bole-Feysot
- , Arnaud Picard
- , Véronique Soupre
- , Stanislas Lyonnet
- , Jeremy Sadoine
- , Lotfi Slimani
- , Catherine Chaussain
- , Cécile Laroche-Raynaud
- , Laurent Guibaud
- , Christine Broissand
- , Jeanne Amiel
- , Christophe Legendre
- , Fabiola Terzi
- & Guillaume Canaud
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Research |
Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- , Juliette Albuisson
- , Annekatrien Boel
- , Mazen Al-Essa
- , Waheed Al-Manea
- , Damien Bonnet
- , Ozlem Bostan
- , Odile Boute
- , Tiffany Busa
- , Nathalie Canham
- , Ergun Cil
- , Paul J Coucke
- , Margot A Cousin
- , Majed Dasouki
- , Julie De Backer
- , Anne De Paepe
- , Sofie De Schepper
- , Deepthi De Silva
- , Koenraad Devriendt
- , Inge De Wandele
- , David R Deyle
- , Harry Dietz
- , Sophie Dupuis-Girod
- , Eudice Fontenot
- , Björn Fischer-Zirnsak
- , Alper Gezdirici
- , Jamal Ghoumid
- , Fabienne Giuliano
- , Neus Baena Diéz
- , Mohammed Z Haider
- , Joshua S Hardin
- , Xavier Jeunemaitre
- , Eric W Klee
- , Uwe Kornak
- , Manuel F Landecho
- , Anne Legrand
- , Bart Loeys
- , Stanislas Lyonnet
- , Helen Michael
- , Pamela Moceri
- , Shehla Mohammed
- , Laura Muiño-Mosquera
- , Sheela Nampoothiri
- , Karin Pichler
- , Katrina Prescott
- , Anna Rajeb
- , Maria Ramos-Arroyo
- , Massimiliano Rossi
- , Mustafa Salih
- , Mohammed Z Seidahmed
- , Elise Schaefer
- , Elisabeth Steichen-Gersdorf
- , Sehime Temel
- , Fahrettin Uysal
- , Marine Vanhomwegen
- , Lut Van Laer
- , Lionel Van Maldergem
- , David Warner
- , Andy Willaert
- , Tom R Collins
- , Andrea Taylor
- , Elaine C Davis
- , Yuri Zarate
- & Bert Callewaert
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Research |
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- Christopher T Gordon
- , Shifeng Xue
- , Gökhan Yigit
- , Hicham Filali
- , Kelan Chen
- , Nadine Rosin
- , Koh-ichiro Yoshiura
- , Myriam Oufadem
- , Tamara J Beck
- , Ruth McGowan
- , Alex C Magee
- , Janine Altmüller
- , Camille Dion
- , Holger Thiele
- , Alexandra D Gurzau
- , Peter Nürnberg
- , Dieter Meschede
- , Wolfgang Mühlbauer
- , Nobuhiko Okamoto
- , Vinod Varghese
- , Rachel Irving
- , Sabine Sigaudy
- , Denise Williams
- , S Faisal Ahmed
- , Carine Bonnard
- , Mung Kei Kong
- , Ilham Ratbi
- , Nawfal Fejjal
- , Meriem Fikri
- , Siham Chafai Elalaoui
- , Hallvard Reigstad
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Nicola Ragge
- , Nicolas Lévy
- , Gökhan Tunçbilek
- , Audrey S M Teo
- , Michael L Cunningham
- , Abdelaziz Sefiani
- , Hülya Kayserili
- , James M Murphy
- , Chalermpong Chatdokmaiprai
- , Axel M Hillmer
- , Duangrurdee Wattanasirichaigoon
- , Stanislas Lyonnet
- , Frédérique Magdinier
- , Asif Javed
- , Marnie E Blewitt
- , Jeanne Amiel
- , Bernd Wollnik
- & Bruno Reversade
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Research |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia
- Hélène Cavé
- , Aurélie Caye
- , Nehla Ghedira
- , Yline Capri
- , Nathalie Pouvreau
- , Natacha Fillot
- , Aurélien Trimouille
- , Cédric Vignal
- , Odile Fenneteau
- , Yves Alembik
- , Jean-Luc Alessandri
- , Patricia Blanchet
- , Odile Boute
- , Patrice Bouvagnet
- , Albert David
- , Anne Dieux Coeslier
- , Bérénice Doray
- , Olivier Dulac
- , Valérie Drouin-Garraud
- , Marion Gérard
- , Delphine Héron
- , Bertrand Isidor
- , Didier Lacombe
- , Stanislas Lyonnet
- , Laurence Perrin
- , Marlène Rio
- , Joëlle Roume
- , Sylvie Sauvion
- , Annick Toutain
- , Catherine Vincent-Delorme
- , Marjorie Willems
- , Clarisse Baumann
- & Alain Verloes
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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
- Marie Vincent
- , David Geneviève
- , Agnès Ostertag
- , Sandrine Marlin
- , Didier Lacombe
- , Dominique Martin-Coignard
- , Christine Coubes
- , Albert David
- , Stanislas Lyonnet
- , Catheline Vilain
- , Anne Dieux-Coeslier
- , Sylvie Manouvrier
- , Bertrand Isidor
- , Marie-Line Jacquemont
- , Sophie Julia
- , Valérie Layet
- , Sophie Naudion
- , Sylvie Odent
- , Laurent Pasquier
- , Sybille Pelras
- , Nicole Philip
- , Geneviève Pierquin
- , Fabienne Prieur
- , Nisrine Aboussair
- , Tania Attie-Bitach
- , Geneviève Baujat
- , Patricia Blanchet
- , Catherine Blanchet
- , Hélène Dollfus
- , Bérénice Doray
- , Elise Schaefer
- , Patrick Edery
- , Fabienne Giuliano
- , Alice Goldenberg
- , Cyril Goizet
- , Agnès Guichet
- , Christian Herlin
- , Laetitia Lambert
- , Bruno Leheup
- , Jelena Martinovic
- , Sandra Mercier
- , Cyril Mignot
- , Marie-Laure Moutard
- , Marie-José Perez
- , Lucile Pinson
- , Jacques Puechberty
- , Marjolaine Willems
- , Hanitra Randrianaivo
- , Kateline Szaskon
- , Annick Toutain
- , Alain Verloes
- , Jacqueline Vigneron
- , Elodie Sanchez
- , Pierre Sarda
- , Jean-Louis Laplanche
- & Corinne Collet
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Research |
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
- Laïla El Khattabi
- , Fabien Guimiot
- , Eva Pipiras
- , Joris Andrieux
- , Clarisse Baumann
- , Sonia Bouquillon
- , Anne-Lise Delezoide
- , Bruno Delobel
- , Florence Demurger
- , Hélène Dessuant
- , Séverine Drunat
- , Christelle Dubourg
- , Céline Dupont
- , Laurence Faivre
- , Muriel Holder-Espinasse
- , Sylvie Jaillard
- , Hubert Journel
- , Stanislas Lyonnet
- , Valérie Malan
- , Alice Masurel
- , Nathalie Marle
- , Chantal Missirian
- , Alexandre Moerman
- , Anne Moncla
- , Sylvie Odent
- , Orazio Palumbo
- , Pietro Palumbo
- , Aimé Ravel
- , Serge Romana
- , Anne-Claude Tabet
- , Mylène Valduga
- , Marie Vermelle
- , Massimo Carella
- , Jean-Michel Dupont
- , Alain Verloes
- , Brigitte Benzacken
- & Andrée Delahaye
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Research |
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
- Anne Guimier
- , George C Gabriel
- , Fanny Bajolle
- , Michael Tsang
- , Hui Liu
- , Aaron Noll
- , Molly Schwartz
- , Rajae El Malti
- , Laurie D Smith
- , Nikolai T Klena
- , Gina Jimenez
- , Neil A Miller
- , Myriam Oufadem
- , Anne Moreau de Bellaing
- , Hisato Yagi
- , Carol J Saunders
- , Candice N Baker
- , Sylvie Di Filippo
- , Kevin A Peterson
- , Isabelle Thiffault
- , Christine Bole-Feysot
- , Linda D Cooley
- , Emily G Farrow
- , Cécile Masson
- , Patric Schoen
- , Jean-François Deleuze
- , Patrick Nitschké
- , Stanislas Lyonnet
- , Loic de Pontual
- , Stephen A Murray
- , Damien Bonnet
- , Stephen F Kingsmore
- , Jeanne Amiel
- , Patrice Bouvagnet
- , Cecilia W Lo
- & Christopher T Gordon
-
Research |
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
- Audrey Putoux
- , Sophie Thomas
- , Karlien L M Coene
- , Erica E Davis
- , Yasemin Alanay
- , Gönül Ogur
- , Elif Uz
- , Daniela Buzas
- , Céline Gomes
- , Sophie Patrier
- , Christopher L Bennett
- , Nadia Elkhartoufi
- , Marie-Hélène Saint Frison
- , Luc Rigonnot
- , Nicole Joyé
- , Solenn Pruvost
- , Gulen Eda Utine
- , Koray Boduroglu
- , Patrick Nitschke
- , Laura Fertitta
- , Christel Thauvin-Robinet
- , Arnold Munnich
- , Valérie Cormier-Daire
- , Raoul Hennekam
- , Estelle Colin
- , Nurten Ayse Akarsu
- , Christine Bole-Feysot
- , Nicolas Cagnard
- , Alain Schmitt
- , Nicolas Goudin
- , Stanislas Lyonnet
- , Férechté Encha-Razavi
- , Jean-Pierre Siffroi
- , Mark Winey
- , Nicholas Katsanis
- , Marie Gonzales
- , Michel Vekemans
- , Philip L Beales
- & Tania Attié-Bitach
-
Research |
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
- Stanislas Lyonnet and colleagues report a new...
- Sabina Benko
- , Judy A Fantes
- , Jeanne Amiel
- , Dirk-Jan Kleinjan
- , Sophie Thomas
- , Jacqueline Ramsay
- , Negar Jamshidi
- , Abdelkader Essafi
- , Simon Heaney
- , Christopher T Gordon
- , David McBride
- , Christelle Golzio
- , Malcolm Fisher
- , Paul Perry
- , Véronique Abadie
- , Carmen Ayuso
- , Muriel Holder-Espinasse
- , Nicky Kilpatrick
- , Melissa M Lees
- , Arnaud Picard
- , I Karen Temple
- , Paul Thomas
- , Marie-Paule Vazquez
- , Michel Vekemans
- , Hugues Roest Crollius
- , Nicholas D Hastie
- , Arnold Munnich
- , Heather C Etchevers
- , Anna Pelet
- , Peter G Farlie
- , David R FitzPatrick
- & Stanislas Lyonnet
