Laurent Villard - Publications
2010
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C, Chabrol B, Villard L.
European Journal of Human Genetics, 2010, sous presse.
Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice.
Pratte M, Panayotis N, Ghata A, Villard L, Roux JC.
Behavioural Brain Research, 2010, sous presse.
GPR56-related bilateral frontoparietal polymicrogyria : further evidence of an overlap with the cobblestone complex
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Baulac M, des Portes V, Moutard ML, Beldjord C, Villard L, Chelly J
Brain, 2010, sous presse.
Deletion of YWHAE in a patient with periventricular heterotopias and marked corpus callosum hypoplasia.
Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.
Journal of Medical Genetics, 2010, 47:132-136.
Biogenic amines in Rett syndrome : the usual suspects.
Roux JC, Villard L.
Behavior Genetics, 2010, 40:59-75.
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Mencarelli M, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A.
Journal of Medical Genetics, 2010, 47:49-53.
Duplications of the critical Rubinstein Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome.
Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K.
Journal of Medical Genetics, 2010, 47:155-161.
Progressive oradregernic deficits in the locus coeruleus of the Mecp2 deficient mouse.
Roux JC, Panayotis N, Dura E, Villard L.
Journal of Neuroscience Research, 2010, 88:1500-1509.
2009
Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.
Cantagrel V, Haddad MR, Ciofi P, Andrieu D, Lossi AM, van Maldergem L, Roux JC, Villard L.
Gene Expression Patterns, 2009, 9:423-429.
Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L.
European Journal of Medical Genetics, 2009, 52:211-217.
Bilateral periventricular nodular heterotopia in France : frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
Sole G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Olivier-Faivre L, Landré E, Debruxelles S, Dieux-Coesler A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C.
Journal of Neurology Neurosurgery and Psychiatry, 2009, 80:1394-1398.
Periventricular heterotopia, mental retardation and epilepsy associated with 5q14.3-q15 deletion.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon J, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater H, Moncla A, Scheffer IE, Guerrini R.
Neurology, 2009, 72:784-792.
2008
Expression of methyl-CpG binding protein 2 (Mecp2) during the postnatal development of the mouse brainstem.
Dura E, Villard L, Roux JC.
Brain Research, 2008, 1236:176-184.
Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse.
Roux JC, Dura E, Villard L.
Neuroscience Letters, 2008, 447:82-86.
TCF4 deletions in Pitt-Hopkins syndrome.
Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Lambert JC, Philip N, Sarda P, Villard L, Goossens M, Moncla A.
Human Mutation, 2008, 29:242-251.
Refinement of cortical dysgeneses associated with TUBA1A mutations: perisylvian pachygyria and dysgenesis of the interal capsule are specific features of the TUBA1A lissencephaly spectrum.
Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J.
Journal Of Medical Genetics, 2008, 45:647-653.
2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
Moncla A, Missirian C, Cacciagli P, Balzamo E, Legeai-Mallet L, Jouve JL, Chabrol B, Le Merrer M, Plessis G, Villard L, Philip N.
Human Mutation, 2007, 28:1183-1188.
Pharmacological treatment of Rett syndrome improve breathing and survival in a mouse model.
Roux JC, Villard L.
Médecine & Sciences, 2007, 23:805-807.
Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.
Roux JC, Dura E, Moncla A, Mancini J, Villard L.
European Journal of Neuroscience, 2007, 25:1915-1922.
MECP2 mutations in males.
Villard L.
Journal of Medical Genetics, 2007, 44:417-423.
Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model.
Viola A, Saywell V, Villard L, Cozzone PJ, Lutz NW.
PlosOne, 2007, 2:e157.
Truncation of NHEJ1 in a patient with polymicrogyria.
Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L.
Human Mutation, 2007, 28:356-364.
2006
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients : a molecular update.
Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T..
European Journal of Medical Genetics, 2006, 49:9-18.
Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism.
Saywell V, Viola A, Confort-Gouny S, Le Fur Y, Villard L, Cozzone P.
Biochemical and Biophysical Research Communications, 2006, 340:776-783.
The incidence of Rett syndrome in France.
Bienvenu T, Philippe C, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L.
Pediatric Neurology, 2006, 34:372-375.
Noradrenaline deficiency as the origin of respiratory disorders in Rett syndrome an animal model.
Villard L, Roux JC.
Médecine & Sciences, 2006, 22:81-83.
2005
Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice : implications for Rett syndrome.
Roux JC, Viemari JC, Tryba AK, Saywell V, Burnet H, Pena F, Zanella S, Bévengut M, Barthélémy-Requin M, Herzing LB, Moncla A, Mancini J, Ramirez JM, Villard L, Hilaire G.
Journal of Neuroscience, 2005, 25:11521-11530.
Epigenetic study of Rett's syndrome as an adequate model for autistic disorders.
Iurov IIu, Vorsanova SG, Voinova-Ulas VIu, Villard L, Demidova IA, Giunti L, Guivabyccu-Uzielli ML, Budilov AV, Beresheva AK, Novikov PV, Iurov IuV.
Zh Nevrol Psikhiatr Im S S Korsakova, 2005, 105:4-11.
Delineation of the clinical phenotype associated with OPHN-1 mutations based on the clinical and neuropsychological evaluation of three families.
Chabrol B, Girard N, NGuyen K, Carlier M, Gérard A, Villard L, Philip N.
American Journal of Medical Genetics, 2005, 138:314-317.
2004
Disruption of a new X-linked gene highly expressed in brain in a family with two mentally retarded males.
Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattéi MG, Gecz J, Schwartz CE, van Maldergem L, Villard L.
Journal of Medical Genetics, 2004, 41:736-742.
Partial androgen insensitivity syndrome and t(X;5) : are there upstream regulatory elements of the androgen receptor gene ?
Lower KM, Kumar R, Woollatt E, Villard L, Gecz J, Sutherland GR, Callen DF.
Hormone Research, 2004, 62:208-214.
2003
Mutations in the oligophrenin-1 gene cause X-linked congenital cerebellar hypoplasia.
Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L.
Journal of Medical Genetics, 2003, 40:441-446.
2002
A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Villard L, Nguyen K, Cardoso C, Lese Martin C, Weiss AM, Sifry-Platt M, Grix AW, Graham Jr. JM, Winter RM, Leventer RJ, Dobyns WB.
American Journal of Human Genetics, 2002, 70:1003-1008.
Polymorphisms in the C-terminal domain of MeCP2 in mentally handicaped boys : implications for genetic counselling.
Moncla A, Kpebe A, Mancini J, Villard L.
European Journal of Human Genetics, 2002, 10:86-89.
X-linked alpha-thalassemia with mental retardation syndrome.
Villard L, Fontès M.
European Journal of Human Genetics, 2002, 10:223-225.
Spectrum of MECP2 mutations in Rett syndrome.
Bienvenu T, Villard L, De Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J.
Genetic Testing, 2002, 6:1-6.
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X-autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.
Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz CE, Mattéi MG, Croquette MF, Villard L.
Journal of Medical Genetics, 2002, 39:113-117.
Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients.
Vorsanova SG, Ulas VIu, Iurov IuB, Giovanucci-Uzielli ML, Demidova IA, Gianti L, Villard L, Iurov IIu, Beresheva AK, Novikov PV.
Zh Nevrol Psikhiatr Im S S Korsakova, 2002, 102:23-29.
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
Braybrook C, Lisgo S, Doudney K, Henderson D, Marcano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S.
Human Molecular Genetics, 2002, 11:2793-2804.
2001
Segregation of a totally skewed pattern of X-chromosome inactivation in four familial cases of Rett syndrome without MeCP2 mutation : implications for the disease.
Villard L, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontès M.
Journal of Medical Genetics, 2001, 38:435-442.
2000
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
Villard L, des Portes V, Lévy N, Louboutin JP, Récan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontès M.
European Journal of Human Genetics, 2000, 8:125-129.
Molecular characterization of a new human T-box gene located in Xq21.1 encoding a protein containing a truncated T-domain.
Laugier-Anfossi F, Villard L.
Gene, 2000, 255:289-296.
Two affected boys in a Rett syndrome family : clinical and molecular findings.
Villard L, Kpebe A, Cardoso C, Chelly J, Tardieu M, Fontès M.
Neurology, 2000, 55:1188-1193.
Exclusion of nine candidate genes for their involvment in X-linked FG syndrome (FGS1) in three families.
Lossi AM, Colleaux L, Abidi F, Chiaroni P, Briault S, Moraine C, Schwartz C, Fontès M, Villard L.
American Journal of Medical Genetics, 2000, 94:386-388.
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.
Friez MJ, Essop FB, Krause A, Fichera M, Ragusa A, Sossey-Aloui K, Nelson RL, May MM, Michaelis RC, Stocco dos Santos RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW.
Human Genetics, 2000, 106:36-39.
MeCP2 mutations account for most cases of typical forms of Rett syndrome.
Bienvenu T, Carrié A, de Roux N, Vinet MC, Villard L, Arzimanoglou A, Beldjord C, Fontès M, Tardieu M, Chelly J.
Human Molecular Genetics, 2000, 9:1377-1384.
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers.
Villard L, Adès LC, Fontès M, Gecz J.
American Journal of Medical Genetics, 2000, 91:83-85.
9th international workshop on the fragile X syndrome and X-linked mental retardation : conference report.
Fryns JP, Borghraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M, Ramakers GJA, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L, Turner G, van Bokhoven H, Vianna-Morgante A, Villard L, Warren ST.
American Journal of Medical Genetics, 2000, 94:345-360.
Mapping of X chromosome inversion breakpoint (inv(X)(q11;q28)) associated with FG syndrome. A second FG locus (FGS2) ?
Briault S, Villard L, Rogner U, Coy J, Odent S, Lucas J, Passage E, Zhu D, Shrimpton A, Pembrey M, Till M, Guichet A, Dessay S, Fontès M, Poustka A, Moraine C.
American Journal of Medical Genetics, 2000, 95:178-181.
1999
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.
Villard L, Briault S, Lossi AM, Paringaux C, Woolatt E, Belougne J, Colleaux L, Pincus DR, Moraine C, Fontès M, Gecz J.
Journal of Medical Genetics, 1999, 36:754-758.
Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene.
Villard L, Fontès M, Ewbank J.
Gene, 1999, 236:13-19.
Mutation in the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X-inactivation : demonstration that the mutation is involved in the inactivation bias.
Lossi AM, Millan JM, Villard L, Orellana C, Cardoso C, Prieto F, Fontès M, Martinez F.
American Journal of Human Genetics, 1999, 65:558-561.
Structures, sequence characteristics and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes.
Tassone F, Villard L, Clancy K, Gardiner K.
Gene, 1999, 226:211-223.
Transcript map of the human chromosome Xq11-Xq21 region : localization of 33 novel genes and one pseudogene.
Villard L, Belougne J, Lossi AM, Fontès M, Colleaux L.
Gene, 1999, 235:43-50.
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L, Bonino MC, Abidi F,Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz CE, Fontès M.
Journal of Medical Genetics, 1999, 36:183-186.
Carpenter-Waziri syndrome results from a mutation in XNP.
Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontes M, Curtis M.
American Journal of Medical Genetics, 1999, 85:249-251.
8th International Workshop On The Fragile X Syndrome And X-Linked Mental Retardation : Conference Report.
Holden JA, Percy M, Allingham-Hawkins D, Brown T, Chiurazzi P, Fisch G, Gane L, Gunter C, Hagerman R, Jenkins EC, Kooy F, Lubs HA, Murray A, Neri G, Schwartz CE, Tranebjaerg L, Villard L, Willems P.
American Journal of Medical Genetics, 1999, 83:221-236.
A Polymorpic Microsatellite XNP-GT In The XNP/ATR-X Gene's Promotor Allows Familial Indirect Diagnosis.
Lévy N, Bernard Bronsard R, Lossi AM, Colleaux L, Cardoso C, Villard L, Fontès M.
Human Mutation , 1999, 14:448.
1998
Analysis of pufferfish homologues of the AT-rich human APP gene.
Villard L, Tassone F, Crnogorac-Jurcevic T, Clancy K, Gardiner K.
Gene, 1998, 210:17-24.
Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein.
Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L.
Human Molecular Genetics, 1998, 7:679-684.
1997
Determination of the genomic structure of the XNP/ATR-X gene, encoding a potential zinc-finger helicase.
Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz CE, Fontès M.
Genomics, 1997, 43:149-155.
A C2055T transition in the exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraine C.
American Journal of Human Genetics, 1997, 61:233-238.
Map location, genomic organization and expression patterns of the human RED1 RNA editase.
Villard L, Tassone F, Haymowicz M, Wellborn R, Gardiner K.
Somatic Cell and Molecular Genetics, 1997, 23:135-145.
1996
Splicing mutation in the ATR-X gene can lead to a mental retardation phenotype without alpha-thalassemia.
Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M.
American Journal of Human Genetics, 1996, 58:499-505.
X-linked mental retardation with neonatal hypotonia in a french family (MRX15) : gene assignment to Xp11.22-Xp21.1.
Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C.
American Journal of Medical Genetics, 1996, 6:617-622.
XNP mutation in a large family with Juberg-Marsidi syndrome.
Villard L, Saugier-Veber P, Gecz J, Mattéi JF, Munnich A, Lyonnet S, Fontès M.
Nature Genetics, 1996, 12:359-360.
A point mutation in the XNP gene, associated with an ATR-X phenotype without perturbation in alpha-globin expression.
Villard L, Lacombe D, Fontès M.
European Journal of Human Genetics, 1996, 4:316-320.
1995
Construction of a YAC contig spanning the Xq13.3 subband.
Villard L, Gecz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontès M.
Genomics , 1995, 26:115-122.
Use of interspersed repetitive sequences-PCR products for cDNA selection.
Villard L, Passage E, Colleaux L, Fontès M.
Mammalian Genome, 1995, 6:617-622.
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
Gibbons RJ, Picketts DJ, Villard L, Higgs DR.
Cell, 1995, 80:837-845.
1994
Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 (Xq13.3).
Gecz J, Pollard H, Consalez G, Villard L, Stayton C, Millasseau P, Khrestchatisky M, Fontès M.
Human Molecular Genetics, 1994, 3:39-44.
Deletion mapping of the DXS986, DXS995 and DXS1002 loci defines their order within Xq21.
Clark PA, Lester T, Villard L, Fontès M, Kinnon C.
Journal of Medical Genetics, 1994, 31:344-345.
1993
Physical and transcriptional mapping of the DXS56-PGK1 1Mb region : isolation of three new transcripts.
Gecz J, Villard L, Lossi AM, Millasseau P, Djabali M, Fontès M.
Human Molecular Genetics, 1993, 2:1389-1393.