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Claude Moraine

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Sylviane Marouillat Védrine; Patrick Vourc'h; Refaat Tabagh; Laurence Mignon; Saskya Höfflin; Catherine Cherpi-Antar; Olivier Mbarek; Agathe Paubel; Claude Moraine; Martine Raynaud; Christian R Andres
A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation.
F Laumonnier; C Shoubridge; C Antar; L S Nguyen; H Van Esch; T Kleefstra; Sylvain Briault; J P Fryns; B Hamel; J Chelly; H H Ropers; N Ronce; S Blesson; Claude Moraine; J Gécz; M Raynaud
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
Dorien Lugtenberg; Luiz Zangrande-Vieira; Maria Kirchhoff; Annabel C Whibley; Astrid R Oudakker; Susanne Kjaergaard; Angela M Vianna-Morgante; Tjitske Kleefstra; Mariken Ruiter; Fernanda S Jehee; Reinhard Ullmann; Charles E Schwartz; Michael Stratton; F Lucy Raymond; Joris Veltman; Terry Vrijenhoek; Rolph Pfundt; Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Guy Froyen; Jamel Chelly; Hans-Hilger Ropers; Claude Moraine; Jozef Gècz; Jeroen Knijnenburg; Sarina G Kant; Ben C J Hamel; Carla Rosenberg; Hans van Bokhoven; Arjan de Brouwer
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.

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All Publications

2011: Sylviane Marouillat Védrine; Patrick Vourc'h; Refaat Tabagh; Laurence Mignon; Saskya Höfflin; Catherine Cherpi-Antar; Olivier Mbarek; Agathe Paubel; Claude Moraine; Martine Raynaud; Christian R Andres
A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation.
Neuroscience letters 2011;491(2):118-21.
2010: F Laumonnier; C Shoubridge; C Antar; L S Nguyen; H Van Esch; T Kleefstra; Sylvain Briault; J P Fryns; B Hamel; J Chelly; H H Ropers; N Ronce; S Blesson; Claude Moraine; J Gécz; M Raynaud
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
Molecular psychiatry 2010;15(7):767-76.
2010: Dorien Lugtenberg; Luiz Zangrande-Vieira; Maria Kirchhoff; Annabel C Whibley; Astrid R Oudakker; Susanne Kjaergaard; Angela M Vianna-Morgante; Tjitske Kleefstra; Mariken Ruiter; Fernanda S Jehee; Reinhard Ullmann; Charles E Schwartz; Michael Stratton; F Lucy Raymond; Joris Veltman; Terry Vrijenhoek; Rolph Pfundt; Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Guy Froyen; Jamel Chelly; Hans-Hilger Ropers; Claude Moraine; Jozef Gècz; Jeroen Knijnenburg; Sarina G Kant; Ben C J Hamel; Carla Rosenberg; Hans van Bokhoven; Arjan de Brouwer
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
American journal of medical genetics. Part A 2010;152A(3):638-45.
2010: Refaat Tabagh; Christian R Andres; Sylviane Védrine; Catherine Cherpi-Antar; Rose-Anne Thepault; Laurence Mignon; Diane Dufour-Rainfray; Claude Moraine; Patrick Vourc'h
Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency.
BMC medical genetics 2010;11():30.
2009: Stavros Bashiardes; Ludmila Kousoulidou; Hans van Bokhoven; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Arjan de Brouwer; Hilde Van Esch; Guy Froyen; Philippos C Patsalis
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
The Journal of molecular diagnostics : JMD 2009;11(6):562-8.
2009: Claude Moraine; Frédérique Bonnet-Brilhault; Frédéric Laumonnier; Marie Gomot
Could autism with mental retardation result from digenism and frequent de novo mutations?
The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2009;10(4 Pt 3):1030-6.
2008: Suzanna Gerarda Maria Frints; Steffen Lenzner; Marijke Bauters; Lars Riff Jensen; Hilde Van Esch; Vincent des Portes; Ute Moog; Merryn Victor Erik Macville; Kees van Roozendaal; Constance Theresia Rimbertha Maria Schrander-Stumpel; Andreas Tzschach; Peter Marynen; Jean-Pierre Fryns; Ben Hamel; Hans van Bokhoven; Jamel Chelly; Chérif Beldjord; Gillian Turner; Jozef Gecz; Claude Moraine; Martine Raynaud; Hans-Hilger Ropers; Guy Froyen; Andreas Walter Kuss
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
European journal of human genetics : EJHG 2008;16(9):1029-37.
2007: Ludmila Kousoulidou; Sven Parkel; Olga Zilina; Priit Palta; Helen Puusepp; Maido Remm; Gillian Turner; Jackie Boyle; Hans van Bokhoven; Arjan de Brouwer; Hilde Van Esch; Guy Froyen; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Jozef Gecz; Ants Kurg; Philippos C Patsalis
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
European journal of medical genetics 2007;50(6):399-410.
2007: Guy Froyen; Marijke Bauters; Jackie Boyle; Hilde Van Esch; Karen Govaerts; Hans van Bokhoven; Hans-Hilger Ropers; Claude Moraine; Jamel Chelly; Jean-Pierre Fryns; Peter Marynen; Jozef Gecz; Gillian Turner
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
Human genetics 2007;121(5):539-47.
2007: Wei Chen; Lars Riff Jensen; Jozef Gecz; Jean-Pierre Fryns; Claude Moraine; Arjan de Brouwer; Jamel Chelly; Bettina Moser; Hans-Hilger Ropers; Andreas W Kuss
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
European journal of human genetics : EJHG 2007;15(3):375-8.
2007: Lars Riff Jensen; Steffen Lenzner; Bettina Moser; Kristine Freude; Andreas Tzschach; Chen Wei; Jean-Pierre Fryns; Jamel Chelly; Gillian Turner; Claude Moraine; Ben Hamel; Hans-Hilger Ropers; Andreas W Kuss
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
European journal of human genetics : EJHG 2007;15(1):68-75.
2006: Dorien Lugtenberg; Arjan de Brouwer; Tjitske Kleefstra; Astrid R Oudakker; Suzanna G M Frints; C T R M Schrander-Stumpel; Jean-Pierre Fryns; Lars Riff Jensen; Jamel Chelly; Claude Moraine; Gillian Turner; Joris Veltman; Ben C J Hamel; Bert B A de Vries; Hans van Bokhoven; Helger G Yntema
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Journal of medical genetics 2006;43(4):362-70.
2006: Karine Poirier; D Lacombe; B Gilbert-Dussardier; Martine Raynaud; Vincent Desportes; Arjan de Brouwer; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Cherif Beldjord; Jamel Chelly; Thierry Bienvenu
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Neurogenetics 2006;7(1):39-46.
2006: Dorien Lugtenberg; Helger G Yntema; Martijn J G Banning; Astrid R Oudakker; Helen V Firth; Lionel Willatt; Martine Raynaud; Tjitske Kleefstra; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Jozef Gecz; Jeroen van Reeuwijk; Sander B Nabuurs; Bert B A de Vries; Ben C J Hamel; Arjan de Brouwer; Hans van Bokhoven
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
American journal of human genetics 2006;78(2):265-78.
2006: Olivier Hagens; Aline Dubos; fatima abidi; Gotthold Barbi; Laura Van Zutven; Maria Hoeltzenbein; Niels Tommerup; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans van Bokhoven; Jozef Gécz; Hélène Dollfus; Hans-Hilger Ropers; Charles E Schwartz; Rita de Cassia Stocco Dos Santos; Vera Kalscheuer; André Hanauer
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Human genetics 2006;118(5):578-90.
2005: Ginevra Zanni; Yoann Saillour; M Nagara; Pierre Billuart; L Castelnau; Claude Moraine; L Faivre; E Bertini; A Durr; Agnès Guichet; D Rodriguez; Vincent des Portes; Cherif Beldjord; Jamel Chelly
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
Neurology 2005;65(9):1364-9.
2005: Frédéric Laumonnier; S Holbert; Nathalie Ronce; F Faravelli; Steffen Lenzner; C E Schwartz; James Lespinasse; Hilde Van Esch; D Lacombe; C Goizet; F Phan-Dinh Tuy; Hans van Bokhoven; Jean-Pierre Fryns; Jamel Chelly; Hans-Hilger Ropers; Claude Moraine; Ben C J Hamel; Sylvain Briault
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Journal of medical genetics 2005;42(10):780-6.
2005: Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
American journal of human genetics 2005;77(3):442-53.
2005: Karine Poirier; Fiona Francis; Ben Hamel; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Thierry Bienvenu
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
European journal of human genetics : EJHG 2005;13(5):523-4.
2005: Lars Riff Jensen; Marion Amende; Ulf Gurok; Bettina Moser; Verena Gimmel; Andreas Tzschach; Andreas R Janecke; Gholamali Tariverdian; Jamel Chelly; Jean-Pierre Fryns; Hilde Van Esch; Tjitske Kleefstra; Ben Hamel; Claude Moraine; Jozef Gecz; Gillian Turner; Richard Reinhardt; Vera Kalscheuer; Hans-Hilger Ropers; Steffen Lenzner
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
American journal of human genetics 2005;76(2):227-36.
2005: J E Forissier; Gisèle Bonne; Christiane Bouchier; Laetitia Duboscq-Bidot; Pascale Richard; Sylvain Briault; Claude Moraine; Olivier Dubourg; Ketty Schwartz; Michel Komajda
[Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation].
Archives des maladies du coeur et des vaisseaux 2005;98(1):67-70.
2005: Joyce So; Vanessa Suckow; Zofia Kijas; Vera Kalscheuer; Bettina Moser; Jennifer Winter; Marieke Baars; Helen V Firth; Peter Lunt; Ben Hamel; Peter Meinecke; Claude Moraine; Sylvie Odent; Albert Schinzel; Jasper van der Smagt; koenraad devriendt; Beate Albrecht; Gabriele Gillessen-Kaesbach; Ineke van der Burgt; Fred Petrij; Laurence Faivre; Julie McGaughran; Fiona McKenzie; John M Opitz; Timothy Cox; Susann Schweiger
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
American journal of medical genetics. Part A 2005;132A(1):1-7.
2004: Kristine Freude; Kirsten Hoffmann; Lars Riff Jensen; Martin B Delatycki; Vincent des Portes; Bettina Moser; Ben Hamel; Hans van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Jozef Gécz; Steffen Lenzner; Vera Kalscheuer; Hans-Hilger Ropers
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
American journal of human genetics 2004;75(2):305-9.
2004: Efraim H. Rosenberg; Lígia Almeida; Tjitske Kleefstra; Rose S deGrauw; Helger G Yntema; Nadia Bahi; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; Ton J DeGrauw; Cornelis Jakobs; Gajja S Salomons
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
American journal of human genetics 2004;75(1):97-105.
2004: Alain Verloes; Pierre Bitoun; Anne Heuskin; Dina Amrom; Hilde van de Broeck; Sarah M Nikkel; Albert E Chudley; Asuri N Prasad; Cristina Rusu; Mircea Covic; Annick Toutain; Claude Moraine; Melissa A Parisi; Michael Patton; Jean-Jacques Martin; Marie-Noelle Van Thienen
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
American journal of medical genetics. Part A 2004;127A(3):277-87.
2004: Vincent des Portes; Claude Moraine
[X-linked mental retardation: a continuous spectrum from syndromic forms towards non-specific forms].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2004;11(6):569-72.
2004: Tjitske Kleefstra; Helger G Yntema; Astrid R Oudakker; Martijn J G Banning; Vera Kalscheuer; Jamel Chelly; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; I M Janssen; Erik A Sistermans; W N Nillesen; L B A de Vries; Ben C J Hamel; Hans van Bokhoven
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
Journal of medical genetics 2004;41(5):394-9.
2004: Frédéric Laumonnier; Frédérique Bonnet-Brilhault; Marie Gomot; Romuald Blanc; Albert David; Marie-Pierre Moizard; Martine Raynaud; Nathalie Ronce; Eric Lemonnier; Patrick Calvas; Béatrice Laudier; Jamel Chelly; Jean-Pierre Fryns; Hans-Hilger Ropers; Ben C J Hamel; Christian Andres; Catherine Barthélémy; Claude Moraine; Sylvain Briault
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
American journal of human genetics 2004;74(3):552-7.
2004: Vincent des Portes; Nathalie Boddaert; Silvia Sacco; Sylvain Briault; Kim Maincent; Nadia Bahi; Marie Gomot; Nathalie Ronce; Joseph Bursztyn; Catherine Adamsbaum; Mônica Zilbovicius; Jamel Chelly; Claude Moraine
Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.
American journal of medical genetics. Part A 2004;124A(4):364-71.
2003: Jean-François Forissier; Gisèle Bonne; Christiane Bouchier; Laetitia Duboscq-Bidot; Pascale Richard; Claudine Wisnewski; Sylvain Briault; Claude Moraine; Olivier Dubourg; Ketty Schwartz; Michel Komajda
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
European journal of heart failure 2003;5(6):821-5.
2003: Sarah A Shoichet; Kirsten Hoffmann; Corinna Menzel; Udo Trautmann; Bettina Moser; Maria Hoeltzenbein; Bernard Echenne; Michael Partington; Hans van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans-Dieter Rott; Hans-Hilger Ropers; Vera Kalscheuer
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
American journal of human genetics 2003;73(6):1341-54.
2003: Marie Gomot; Chantal Gendrot; Alain Verloes; Martine Raynaud; Albert David; Helger G Yntema; Sabine Dessay; Vera Kalscheuer; Suzanna G M Frints; Philippe Couvert; Sylvain Briault; Sophie Blesson; Annick Toutain; Jamel Chelly; Vincent Desportes; Claude Moraine
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
American journal of medical genetics. Part A 2003;123A(2):129-39.
2003: Suzanna G M Frints; Lin Jun; Jean-Pierre Fryns; koenraad devriendt; Rudi Teulingkx; Lut Van den Berghe; Bernice De Vos; Martine Borghgraef; Jamel Chelly; Vincent des Portes; Hans van Bokhoven; Ben Hamel; Hans-Hilger Ropers; Vera Kalscheuer; Martine Raynaud; Claude Moraine; Peter Marynen; Guy Froyen
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
American journal of medical genetics. Part A 2003;119A(3):367-74.
2003: Hans-Hilger Ropers; Maria Hoeltzenbein; Vera Kalscheuer; Helger G Yntema; Ben Hamel; Jean-Pierre Fryns; Jamel Chelly; Michael Partington; Jozef Gecz; Claude Moraine
Nonsyndromic X-linked mental retardation: where are the missing mutations?
Trends in genetics : TIG 2003;19(6):316-20.
2003: Thierry Bienvenu; Karine Poirier; Hilde Van Esch; Ben Hamel; Claude Moraine; J P Fryns; Hans-Hilger Ropers; Cherif Beldjord; Helger G Yntema; Jamel Chelly
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.
Journal of medical genetics 2003;40(5):357-9.
2003: Martine Raynaud; Sabine Dessay; Nathalie Ronce; John Opitz; Marcus E Pembrey; Corrado Romano; Claude Moraine; Sylvain Briault
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.
European journal of human genetics : EJHG 2003;11(4):352-6.
2003: Patrick Vourc'h; Isabelle Martin; Sylviane Marouillat; Jean-Louis Adrien; Catherine Barthélémy; Claude Moraine; Jean-Pierre Müh; Christian Andres
Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder.
Neuroscience letters 2003;338(2):115-8.
2002: Frédéric Laumonnier; Nathalie Ronce; Ben C J Hamel; Paul Thomas; James Lespinasse; Martine Raynaud; Christine Paringaux; Hans van Bokhoven; Vera Kalscheuer; Jean-Pierre Fryns; Jamel Chelly; Claude Moraine; Sylvain Briault
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
American journal of human genetics 2002;71(6):1450-5.
2002: Marie Gomot; Nathalie Ronce; Sabine Dessay; Ramzi Zemni; Anne-Dominique Ayrault; Marie-Pierre Moizard; Annie Nivelon; Simone Gilgenkrantz; Julliette Dourlens; Vincent des Portes; Jamel Chelly; Claude Moraine
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.
American journal of medical genetics 2002;112(4):400-4.
2002: J L Gilardi; Franck Perrotin; C Paillet; Sophie Blesson; H Cave; Sylvain Briault; Claude Moraine
Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy.
Prenatal diagnosis 2002;22(10):856-8.
2002: Sabine Dessay; Marie-Pierre Moizard; Jean Louis Gilardi; John M Opitz; Helen Middleton-Price; Marcus E Pembrey; Claude Moraine; Sylvain Briault
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].
American journal of medical genetics 2002;112(1):6-11.
2002: Hanitra Randrianaivo; Georges Haddad; Horace Roman; Anne-Lise Delezoide; Annick Toutain; Martine Le Merrer; Claude Moraine; Anne Lise
Fetal fibrochondrogenesis at 26 weeks' gestation.
Prenatal diagnosis 2002;22(9):806-10.
2002: Annick Toutain; Benoît Dessay; Nathalie Ronce; Maria-Immacolata Ferrante; Julie Tranchemontagne; Ruth Newbury-Ecob; Carina Wallgren-Pettersson; John Burn; Josseline Kaplan; Annick Rossi; Silvia Russo; Ian Walpole; James Hartsfield; Nina Oyen; Andrea Nemeth; Pierre Bitoun; Dorothy Trump; Claude Moraine; Brunella Franco
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
European journal of human genetics : EJHG 2002;10(9):516-20.
2002: Thierry Bienvenu; Karine Poirier; Gaëlle Friocourt; Nadia Bahi; Delphine Beaumont; Fabien Fauchereau; Lamia Ben Jeema; Ramzi Zemni; Marie-Claude Vinet; Fiona Francis; Philippe Couvert; Marie Gomot; Claude Moraine; Hans van Bokhoven; Vera Kalscheuer; Suzanna G M Frints; Jozef Gecz; Kanae Ohzaki; Habiba Chaabouni; Jean-Pierre Fryns; Vincent Desportes; Cherif Beldjord; Jamel Chelly
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Human molecular genetics 2002;11(8):981-91.
2002: Helger G Yntema; Astrid R Oudakker; Tjitske Kleefstra; Ben C J Hamel; Hans van Bokhoven; Jamel Chelly; Vera Kalscheuer; Jean-Pierre Fryns; Martine Raynaud; Marie-Pierre Moizard; Claude Moraine
In-frame deletion in MECP2 causes mild nonspecific mental retardation.
American journal of medical genetics 2002;107(1):81-3.
2001: Philippe Couvert; Thierry Bienvenu; C Aquaviva; Karine Poirier; Claude Moraine; Chantal Gendrot; Alain Verloes; C Andrès; A C Le Fevre; Isabelle Souville; J Steffann; Vincent des Portes; Hans-Hilger Ropers; Helger G Yntema; J P Fryns; Sylvain Briault; Jamel Chelly; B Cherif
MECP2 is highly mutated in X-linked mental retardation.
Human molecular genetics 2001;10(9):941-6.
2000: A Schröer; M P Scheer; S Zacharias; S Schneider; Hans-Hilger Ropers; Hans Gerd Nothwang; Jamel Chelly; Ben Hamel; J P Fryns; P Shaw; Claude Moraine
Cosegregation of T108A Elk-1 with mental retardation.
American journal of medical genetics 2000;95(4):404-5.
2000: Sylvain Briault; Laurent Villard; U Rogner; J Coy; Sylvie Odent; J Lucas; Edith Passage; D Zhu; A Shrimpton; Marcus E Pembrey; M Till; Agnès Guichet; Sabine Dessay; Michel Fontes; A Poustka; Claude Moraine
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?
American journal of medical genetics 2000;95(2):178-81.
2000: Anne-Marie Lossi; Laurence Colleaux; P Chiaroni; Michel Fontes; Laurent Villard; fatima abidi; C Schwartz; Sylvain Briault; Claude Moraine
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families.
American journal of medical genetics 2000;94(5):386-8.
2000: Jean-Pierre Fryns; Martine Borghgraef; T W Brown; Jamel Chelly; Gene S Fisch; Ben Hamel; André Hanauer; D Lacombe; L Luo; J N MacPherson; J L Mandel; Claude Moraine; John C Mulley; D Nelson; B Oostra; Michael Partington; G J Ramakers; Hans-Hilger Ropers; Francois Rousseau; C Schwartz; P Steinbach; claude stoll; L Tranebjaerg; Gillian Turner; Hans van Bokhoven; A Vianna-Morgante
9th international workshop on fragile X syndrome and X-linked mental retardation.
American journal of medical genetics 2000;94(5):345-60.
2000: Kerstin Kutsche; Helger G Yntema; A Brandt; I Jantke; Hans Gerd Nothwang; Ulrike Orth; M G Boavida; D David; J Chelly; J P Fryns; Claude Moraine; H H Ropers; Ben C J Hamel; H van Bokhoven; Andreas Gal
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Nature genetics 2000;26(2):247-50.
2000: Thierry Bienvenu; Vincent des Portes; N McDonell; Alain Carrié; Ramzi Zemni; Philippe Couvert; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; K Allen; Christopher Walsh; J Boué; Axel Kahn; Jamel Chelly; Cherif Beldjord
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
American journal of medical genetics 2000;93(4):294-8.
2000: Marie-Pierre Moizard; Annick Toutain; D Fournier; F Berret; Martine Raynaud; C Billard; Christian Andres; Claude Moraine
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
European journal of human genetics : EJHG 2000;8(7):552-6.
2000: Sandra Fert-Ferrer; Agnès Guichet; Julia Tantau; Anne-Lise Delezoide; Catherine Ozilou; Serge Romana; Philippe Gosset; Géraldine Viot; S Loison; Claude Moraine; Nicole Morichon-Delvallez; Catherine Turleau; Michel Vekemans; Marguerite Prieur
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
Prenatal diagnosis 2000;20(6):511-5.
2000: Franck Perrotin; Georges Haddad; Agnès Guichet; C Paillet; Claude Moraine; Gilles Body
Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome.
Prenatal diagnosis 2000;20(6):501-4.
2000: Martine Raynaud; Marie-Pierre Moizard; Benoît Dessay; Sylvain Briault; Annick Toutain; Chantal Gendrot; Nathalie Ronce; Claude Moraine
Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.
European journal of human genetics : EJHG 2000;8(4):253-8.
2000: Jean-François Forissier; Pascale Richard; Sylvain Briault; Céline Ledeuil; Olivier Dubourg; Bernard Charbonnier; Lucie Carrier; Claude Moraine; Gisèle Bonne; Michel Komajda; Ketty Schwartz; Bernard Hainque
First description of germline mosaicism in familial hypertrophic cardiomyopathy.
Journal of medical genetics 2000;37(2):132-4.
2000: Ramzi Zemni; Thierry Bienvenu; Marie-Claude Vinet; abdelaziz sefiani; Alain Carrié; Pierre Billuart; N McDonell; Philippe Couvert; Fiona Francis; Philippe Chafey; Fabien Fauchereau; Gaëlle Friocourt; Vincent des Portes; A Cardona; Suzanna G M Frints; Alfons Meindl; Oliver Brandau; Nathalie Ronce; Claude Moraine; Hans van Bokhoven; Hans-Hilger Ropers; Ralf Sudbrak; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Jamel Chelly
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nature genetics 2000;24(2):167-70.
2000: Pierre Billuart; Jamel Chelly; Alain Carrié; Marie-Claude Vinet; Philippe Couvert; N McDonell; Ramzi Zemni; Axel Kahn; Claude Moraine; Cherif Beldjord; Thierry Bienvenu
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.
Annales de génétique 2000;43(1):5-9.
1999: Helger G Yntema; Bellinda van den Helm; J Kissing; Gerard van Duijnhoven; Francis A M Poppelaars; J Chelly; Claude Moraine; Jean-Pierre Fryns; Ben C J Hamel; H Heilbronner; H J Pander; Han G Brunner; Hans-Hilger Ropers; Frans P M Cremers; Hans van Bokhoven
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Genomics 1999;62(3):332-43.
1999: Laurent Villard; Sylvain Briault; Anne-Marie Lossi; C Paringaux; Jérôme Belougne; Laurence Colleaux; D R Pincus; Erica Woollatt; James Lespinasse; A Munnich; Claude Moraine; M Fontès; Jozef Gecz
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.
Journal of medical genetics 1999;36(10):754-8.
1999: Sylvain Briault; Sylvie Odent; J Lucas; M Le Merrer; Catherine Turleau; A Munnich; Claude Moraine
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.
American journal of medical genetics 1999;86(2):112-4.
1999: Alain Carrié; Lin Jun; Thierry Bienvenu; Marie-Claude Vinet; N McDonell; Philippe Couvert; Ramzi Zemni; A Cardona; Griet Van Buggenhout; Suzanna G M Frints; Ben Hamel; Claude Moraine; Hans-Hilger Ropers; T Strom; G R Howell; A Whittaker; Mark T Ross; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Peter Marynen; Jamel Chelly
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Nature genetics 1999;23(1):25-31.
1999: Vincent des Portes; Cherif Beldjord; Jamel Chelly; Ben Hamel; H Kremer; A Smits; Hans van Bokhoven; Hans-Hilger Ropers; S Claes; J P Fryns; Nathalie Ronce; Chantal Gendrot; Annick Toutain; Martine Raynaud; Claude Moraine
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
American journal of medical genetics 1999;85(3):263-5.
1999: Chantal Gendrot; Nathalie Ronce; Martine Raynaud; Anne-Dominique Ayrault; J Dourlens; P Castelnau; J P Muh; Jamel Chelly; Claude Moraine
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.
American journal of medical genetics 1999;83(5):411-8.
1999: Nathalie Ronce; Martine Raynaud; Annick Toutain; Marie-Pierre Moizard; Laurence Colleaux; Chantal Gendrot; Sylvain Briault; Claude Moraine
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.
American journal of medical genetics 1999;83(2):132-7.
1998: Pierre Billuart; Thierry Bienvenu; Nathalie Ronce; Vincent des Portes; Marie-Claude Vinet; Ramzi Zemni; Alain Carrié; Cherif Beldjord; Axel Kahn; Claude Moraine; Jamel Chelly
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.
Pathologie-biologie 1998;46(9):678.
1998: Marie-Pierre Moizard; C Billard; Annick Toutain; F Berret; N Marmin; Claude Moraine
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
American journal of medical genetics 1998;80(1):32-41.
1998: Thierry Bienvenu; Vincent des Portes; A Saint Martin; N McDonell; Pierre Billuart; Alain Carrié; Marie-Claude Vinet; Philippe Couvert; D Toniolo; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; Axel Kahn; Cherif Beldjord; Jamel Chelly
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics 1998;7(8):1311-5.
1998: Pierre Billuart; Thierry Bienvenu; Nathalie Ronce; Vincent des Portes; Marie-Claude Vinet; Ramzi Zemni; H Roest Crollius; Alain Carrié; Fabien Fauchereau; M Cherry; Sylvain Briault; Ben Hamel; Jean-Pierre Fryns; Cherif Beldjord; Axel Kahn; Claude Moraine; Jamel Chelly
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Nature 1998;392(6679):923-6.
1998: Agnès Guichet; Sylvain Briault; Claude Moraine
High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation.
Prenatal diagnosis 1998;18(4):399-403.
1998: Martine Raynaud; Nathalie Ronce; Anne-Dominique Ayrault; C Francannet; G Malpuech; Claude Moraine
X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.
American journal of medical genetics 1998;76(3):255-61.
1997: Sylvain Briault; R Hill; A Shrimpton; D Zhu; M Till; Nathalie Ronce; P Margaritte-Jeannin; M Baraitser; Helen Middleton-Price; Sue Malcolm; E Thompson; J Hoo; G Wilson; Corrado Romano; Agnès Guichet; Marcus E Pembrey; Michel Fontes; A Poustka; Claude Moraine
A gene for FG syndrome maps in the Xq12-q21.31 region.
American journal of medical genetics 1997;73(1):87-90.
1997: Agnès Guichet; Sylvain Briault; M Le Merrer; Claude Moraine
Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?
Clinical dysmorphology 1997;6(4):341-5.
1997: Annick Toutain; Anne-Dominique Ayrault; Claude Moraine
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.
American journal of medical genetics 1997;71(3):305-14.
1997: Nathalie Ronce; Marie-Pierre Moizard; L Robb; Annick Toutain; L Villard; Claude Moraine
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
American journal of human genetics 1997;61(1):233-8.
1997: Annick Toutain; Nathalie Ronce; Benoît Dessay; L Robb; C Francannet; M Le Merrer; M L Briard; Josseline Kaplan; Claude Moraine
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.
Human genetics 1997;99(2):256-61.
1996: Martine Raynaud; Chantal Gendrot; Benoît Dessay; Anne Moncla; Anne-Dominique Ayrault; Marie-Pierre Moizard; Annick Toutain; Sylvain Briault; Laurent Villard; Nathalie Ronce; Claude Moraine
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.
American journal of medical genetics 1996;64(1):97-106.
1996: Laurent Villard; Annick Toutain; Anne-Marie Lossi; Jozef Gecz; C Houdayer; Claude Moraine; M Fontès
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
American journal of human genetics 1996;58(3):499-505.
1996: Agnès Guichet; Sylvain Briault; Claude Moraine; C Turleau
Trisomy X: ACLF (Association des Cytogénéticiens de Langue Française) retrospective study.
Annales de génétique 1996;39(3):117-22.
1995: Agnès Guichet; Sylvain Briault; Annick Toutain; C Paillet; Philippe Descamps; F Pierre; Gilles Body; Claude Moraine
Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks.
Prenatal diagnosis 1995;15(8):769-72.
1995: P Saugier-Veber; Arnold Munnich; Stanislas LYONNET; Annick Toutain; Claude Moraine; C Piussan; M Mathieu; R J Gibbons
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
American journal of medical genetics 1995;55(3):300-1.
1994: Chantal Gendrot; Nathalie Ronce; Annick Toutain; Marie-Pierre Moizard; Jean-Pierre Müh; Martine Raynaud; J Dourlens; Sylvain Briault; Claude Moraine
X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.
Clinical genetics 1994;45(3):145-53.
1993: G Lefort; J Taib; Annick Toutain; C Houdayer; Claude Moraine; Claude Humeau; P Sarda
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.
Annales de génétique 1993;36(4):200-5.
1993: C I Houdayer; Annick Toutain; Nathalie Ronce; G Lefort; P Sarda; J Taib; Sylvain Briault; J C Lambert; Claude Moraine
X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.
Annales de génétique 1993;36(4):194-9.
1992: Gérard Lorette; Annick Toutain; M Barthes; E Saliba; G Georgesco; Claude Moraine
[Menkes syndrome. An unusual pigmentation anomaly in a mother and three sisters].
Annales de pédiatrie 1992;39(7):453-6.
1992: C Barin; C Valtat; Sylvain Briault; JL Bremond; A Petit; O Lejars; C Linassier; P Gaschard; Claude Moraine
Structural rearrangements of chromosome 13 as additional abnormalities in Burkitt lymphoma and type 3 acute lymphoblastic leukemia.
Cancer genetics and cytogenetics 1992;60(2):206-9.
1992: C Valtat; D Galliano; R Mettey; Annick Toutain; Claude Moraine
Monosomy 6q: report on four new cases.
Clinical genetics 1992;41(3):159-66.
1991: D Galliano; C Paillet; Gilles Body; F Pierre; D Pourcelot; Claude Moraine
[Value of ultrasonic diagnosis of fetal malformations in the detection of chromosomal abnormalities].
Journal de gynécologie, obstétrique et biologie de la reproduction 1991;20(2):203-8.
1991: Annick Toutain; D Sirinelli; C Paillet; C Bonnard; Gilles Body; P Maroteaux; Claude Moraine
[Reinhardt-Pfeiffer mesomelic dysplasia or dyschondrosteosis? Is the distinction well-founded? Apropos of a familial case with variable expression].
Annales de pédiatrie 1991;38(1):37-45.
1989: P Le Louarn; Claude Moraine; A Perrot; C Barthelemy; B Garreau; Dominique Sauvage
[Autism and fragile X syndrome. Pedopsychiatric aspects].
Archives françaises de pédiatrie 1989;46(3):211-6.
1988: P Maroteaux; L Cohen-Solal; Jacky Bonaventure; M O Peter; C Francannet; P Guibaud; Claude Moraine
[Lethal syndromes with thin bones].
Archives françaises de pédiatrie 1988;45(7):477-81.