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Sylvain Briault

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Phi Yen Vu; Azza Abd El Moneim; Jérôme Toutain; Cong Toai Tran; Benoît Arveiler; Pascal Barat; Françoise Bonnet; Sylvain Briault; David Cappellen; Zong Qi Dai; Hussein Daoud; Marie-Ange Delrue; Didier Lacombe; Orianne Montaubin; Christophe Philippe; Caroline Rooryck; Robert Saura; Laurence Taine
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
Olivier Perche; Béatrice Laudier; Frederic Laumonnier; Arnaud Menuet; Sylvie Odent; Sylvain Briault
FG syndrome: the FGS2 locus revisited.
Cecile Pagan; Hany Goubran Botros; Karine Poirier; Anne Dumaine; Stéphane Jamain; Sarah Moreno; Arjan de Brouwer; Hilde Van Esch; Richard Delorme; Jean-Marie Launay; Andreas Tzschach; Vera Kalscheuer; Didier Lacombe; Sylvain Briault; Frédéric Laumonnier; Martine Raynaud; Bregje W van Bon; Marjolein H Willemsen; Marion Leboyer; Jamel Chelly; Thomas Bourgeron
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.

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All Publications

2012: Phi Yen Vu; Azza Abd El Moneim; Jérôme Toutain; Cong Toai Tran; Benoît Arveiler; Pascal Barat; Françoise Bonnet; Sylvain Briault; David Cappellen; Zong Qi Dai; Hussein Daoud; Marie-Ange Delrue; Didier Lacombe; Orianne Montaubin; Christophe Philippe; Caroline Rooryck; Robert Saura; Laurence Taine
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
American journal of medical genetics. Part A 2012;158A(11):2849-56.
2012: Olivier Perche; Béatrice Laudier; Frederic Laumonnier; Arnaud Menuet; Sylvie Odent; Sylvain Briault
FG syndrome: the FGS2 locus revisited.
American journal of medical genetics. Part A 2012;158A(6):1489-92.
2011: Cecile Pagan; Hany Goubran Botros; Karine Poirier; Anne Dumaine; Stéphane Jamain; Sarah Moreno; Arjan de Brouwer; Hilde Van Esch; Richard Delorme; Jean-Marie Launay; Andreas Tzschach; Vera Kalscheuer; Didier Lacombe; Sylvain Briault; Frédéric Laumonnier; Martine Raynaud; Bregje W van Bon; Marjolein H Willemsen; Marion Leboyer; Jamel Chelly; Thomas Bourgeron
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
BMC medical genetics 2011;12():17.
2010: O Perche; F Laumonnier; L Baala; M-Y Ardourel; A Menuet; V Robin; Stéphane Mortaud; C Montécot-Dubourg; O Richard; J Pichon; Sylvain Briault
[Autism, genetics and synaptic function alterations].
Pathologie-biologie 2010;58(5):381-6.
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.
2009: Hussein Daoud; Frédérique Bonnet-Brilhault; Sylviane Védrine; Marie-Véronique Demattéi; Patrick Vourc'h; Nadia Bayou; Christian R Andres; Catherine Barthélémy; Frédéric Laumonnier; Sylvain Briault
Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.
Biological psychiatry 2009;66(10):906-10.
2009: Audrey Guilmatre; Christèle Dubourg; Anne-Laure Mosca; Solenn Legallic; Alice Goldenberg; Valérie Drouin-Garraud; Valérie Layet; Antoine Rosier; Sylvain Briault; Frédérique Bonnet-Brilhault; Frédéric Laumonnier; Sylvie Odent; Gael Le Vacon; Géraldine Joly-Helas; Véronique David; Claude Bendavid; Jean-Michel Pinoit; Céline Henry; Caterina Impallomeni; Eva Germano; Gaetano Tortorella; Gabriella Di Rosa; Catherine Barthelemy; Christian Andres; Laurence Faivre; Thierry Frébourg; Pascale Saugier-Veber; Dominique Campion
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Archives of general psychiatry 2009;66(9):947-56.
2009: Hussein Daoud; Nicolas Gruchy; Jean-Marc Constans; Edgar Moussaoui; Simone Saumureau; Nadia Bayou; Maïté Amy; Sylviane Védrine; Phi Yen Vu; Agnès Rötig; Frédéric Laumonnier; Patrick Vourc'h; Christian R Andres; Nathalie Leporrier; Sylvain Briault
Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.
Human genetics 2009;124(6):649-58.
2008: Nadia Bayou; Ridha M'Rad; Ahlem Belhaj; Hussein Daoud; Ramzi Zemni; Sylvain Briault; M Béchir Helayem; Lamia Ben Jemaa; Habiba Chaabouni
The creatine transporter gene paralogous at 16p11.2 is expressed in human brain.
Comparative and functional genomics 2008;():609684.
2008: Nadia Bayou; Ridha M'Rad; Ahlem Belhaj; Hussein Daoud; Lamia Ben Jemaa; Ramzi Zemni; Sylvain Briault; M Bechir Helayem; Habiba Chaabouni
De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.
Journal of biomedicine & biotechnology 2008;2008():231904.
2007: Charles E Schwartz; Patrick Tarpey; Herbert A Lubs; Alain Verloes; Melanie M May; Hiba Risheg; Michael J Friez; P Andrew Futreal; Sarah Edkins; Jon Teague; Sylvain Briault; Cindy Skinner; Astrid Bauer-Carlin; Richard J Simensen; Sumy M Joseph; Julie R Jones; Jozef Gecz; Michael R Stratton; F Lucy Raymond; Roger E Stevenson
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Journal of medical genetics 2007;44(7):472-7.
2007: Lekbir Baala; Sylvain Briault; Heather C Etchevers; Frédéric Laumonnier; Abdelhafid Natiq; Jeanne Amiel; Nathalie Boddaert; Capucine Picard; Aziza Sbiti; Abdellah Asermouh; Tania Attié-Bitach; Férechté Encha-Razavi; Arnold Munnich; abdelaziz sefiani; Stanislas LYONNET
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nature genetics 2007;39(4):454-6.
2007: Mylène Béri-Deixheimer; Marie-José Gregoire; Annick Toutain; Karène Brochet; Sylvain Briault; Jean-Luc Schaff; Bruno Leheup; Philippe Jonveaux
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
European journal of human genetics : EJHG 2007;15(4):446-52.
2006: Frédéric Laumonnier; Sébastien Roger; Pascaline Guérin; Florence Molinari; Ridha M'Rad; Dominique Cahard; Ahlem Belhadj; Mohamed Halayem; Antonio M Persico; Maurizio Elia; Valentino Romano; Sébastien Holbert; Christian Andres; Habiba Chaabouni; Laurence Colleaux; Jacques Constant; Jean-Yves Le Guennec; Sylvain Briault
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.
The American journal of psychiatry 2006;163(9):1622-9.
2006: Ludovic Martin; S Pissard; P Blanc; Nicolas Chassaing; E Legac; Sylvain Briault; M Le Bert; O Le Saux
[Increased haemoglobin A2 levels in pseudoxanthoma elasticum].
Annales de dermatologie et de vénéréologie 2006;133(8-9 Pt 1):645-51.
2006: Ariane Paoloni-Giacobino; Sophie Dahoun; Sylvain Briault; A Chalumeau; M Till; C Morraine; James Lespinasse
Six cases of cryptic subtelomeric translocations in four families: the use of subtelomeric FISH probes as a diagnostic tool.
Genetic counseling (Geneva, Switzerland) 2006;17(1):15-28.
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: 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.
2004: Antoine Muchir; Jacques Medioni; M Laluc; Catherine Massart; Takuro Arimura; Anneke J van der Kooi; Isabelle Desguerre; M Mayer; Xavier Ferrer; Sylvain Briault; M Hirano; Howard J Worman; Alain Mallet; Manfred Wehnert; Ketty Schwartz; Gisèle Bonne
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muscle & nerve 2004;30(4):444-50.
2004: Joris Veltman; Helger G Yntema; Dorien Lugtenberg; H Arts; Sylvain Briault; Erik H L P G Huys; Kazutoyo Osoegawa; Pieter de Jong; Han G Brunner; Ad Geurts van Kessel; Hans van Bokhoven; Eric F P M Schoenmakers
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.
Journal of medical genetics 2004;41(6):425-32.
2004: Ramona Pop; C Conz; K S Lindenberg; Sophie Blesson; B Schmalenberger; Sylvain Briault; Dietmar Pfeifer; Gerd Scherer
Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal.
Journal of medical genetics 2004;41(4):e47.
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: 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: 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.
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: Florence Molinari; Marlène Rio; Virginia Meskenaite; Férechté Encha-Razavi; Joëlle Augé; Delphine Bacq; Sylvain Briault; Michel Vekemans; Arnold Munnich; Tania Attié-Bitach; Peter Sonderegger; Laurence Colleaux
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.
Science (New York, N.Y.) 2002;298(5599):1779-81.
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: Brigitte Gilbert; Catherine Yardin; Sylvain Briault; Valérie Belin; A Lienhardt; Yves Aubard; J Battin; Michel Servaud; HJ Philippe; D Lacombe
Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.
Prenatal diagnosis 2002;22(8):697-702.
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.
2001: J Gekas; François Thepot; Catherine Turleau; Jean-Pierre Siffroi; Jean-Pierre Dadoune; Sylvain Briault; Marlène Rio; G Bourouillou; F Carré-Pigeon; R Wasels; Brigitte Benzacken
Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men.
Human reproduction (Oxford, England) 2001;16(1):82-90.
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: 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.
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: 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; 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.
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.
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: 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.
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: 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: 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.
1990: J L Huret; André Brizard; P Babin; M Schoënwald; Sylvain Briault; françois guilhot; J Tanzer
Translocation (8;9)(q12;p21). A new non-random rearrangement in lymphoid malignancies.
Cancer genetics and cytogenetics 1990;45(1):125-9.
1989: J L Huret; françois guilhot; André Brizard; Sylvain Briault; P Babin; J Tanzer
A case of inv(5) in non-Hodgkin's lymphoma.
Cancer genetics and cytogenetics 1989;37(2):279-80.
1988: Sylvain Briault; M Courtois-Capella; F Duarte; Pierre Aucouturier; Jean-Louis Preud'Homme
Isotypy of serum monoclonal immunoglobulins in human immunodeficiency virus-infected adults.
Clinical and experimental immunology 1988;74(2):182-4.
1988: J L Huret; André Brizard; Sylvain Briault; Brigitte Dreyfus; C Giraud; J Tanzer
Two additional cases of inv(12) in human malignancies.
Cancer genetics and cytogenetics 1988;32(2):309-11.