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Laurent Pasquier

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E Colin; M Ferry; Marion Gérard-Blanluet; Agnès Guichet; Jean-Marc Levaillant; A Mercier; Sylvie Odent; Laurent Pasquier; R Touraine; M Barth; Françoise Boussion; Dominique Bonneau
Binder phenotype in mothers affected with autoimmune disorders.
Gaelle Thierry; Ann-Charlotte Thuresson; Bassim Tou; Annick Toutain; Bregje W M van Bon; Corinne Metay; Laurent Pasquier; Agathe Paubel; Olivier Pichon; Françoise Popelard; Marie-Pierre Quéré; Caroline Rooryck; Cecilia Soussi-Zander; Benoît Arveiler; Claire Bénéteau; Mylène Béri; Céline Bonnet; Dorothée Cailley; Albert David; Bert B A de Vries; Marie-Ange Delrue; Laetitia Duboscq-Bidot; Christèle Dubourg; Anne Dusser; Elisabeth Flori; Bertrand Isidor; Sylvie Jaillard; Philippe Jonveaux; Didier Lacombe; Cédric Le Caignec
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Sandra Mercier; Laurent Pasquier; Chloé Quélin; Leslie Ratié; Lucie Rochard; Marion Belleguic; Claude Bendavid; Boris Campillo-Gimenez; Véronique David; Christèle Dubourg; Valérie Dupé; Nicolas Garcelon; Isabelle Gicquel; Sophie Jaillard; Philippe Loget; Sylvie Odent
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

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All Publications

2012: E Colin; M Ferry; Marion Gérard-Blanluet; Agnès Guichet; Jean-Marc Levaillant; A Mercier; Sylvie Odent; Laurent Pasquier; R Touraine; M Barth; Françoise Boussion; Dominique Bonneau
Binder phenotype in mothers affected with autoimmune disorders.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2012;25(8):1413-8.
2012: Gaelle Thierry; Ann-Charlotte Thuresson; Bassim Tou; Annick Toutain; Bregje W M van Bon; Corinne Metay; Laurent Pasquier; Agathe Paubel; Olivier Pichon; Françoise Popelard; Marie-Pierre Quéré; Caroline Rooryck; Cecilia Soussi-Zander; Benoît Arveiler; Claire Bénéteau; Mylène Béri; Céline Bonnet; Dorothée Cailley; Albert David; Bert B A de Vries; Marie-Ange Delrue; Laetitia Duboscq-Bidot; Christèle Dubourg; Anne Dusser; Elisabeth Flori; Bertrand Isidor; Sylvie Jaillard; Philippe Jonveaux; Didier Lacombe; Cédric Le Caignec
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
American journal of medical genetics. Part A 2012;158A(7):1633-40.
2011: Sandra Mercier; Laurent Pasquier; Chloé Quélin; Leslie Ratié; Lucie Rochard; Marion Belleguic; Claude Bendavid; Boris Campillo-Gimenez; Véronique David; Christèle Dubourg; Valérie Dupé; Nicolas Garcelon; Isabelle Gicquel; Sophie Jaillard; Philippe Loget; Sylvie Odent
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Journal of medical genetics 2011;48(11):752-60.
2010: Eric Pasmant; Audrey Sabbagh; Gill Spurlock; Ingrid Laurendeau; Elisa Grillo; Marie-José Hamel; Ludovic Martin; Sébastien Barbarot; Bruno Leheup; Diana Rodriguez; Didier Lacombe; Hélène Dollfus; Laurent Pasquier; Bertrand Isidor; Salah Ferkal; Jean Soulier; Marc Sanson; Anne Dieux-Coeslier; Ivan Bièche; Béatrice Parfait; Michel Vidaud; Pierre Wolkenstein; Meena Upadhyaya; Dominique Vidaud
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
Human mutation 2010;31(6):E1506-18.
2010: Sylvie Jaillard; Séverine Drunat; Claude Bendavid; Azzedine Aboura; Amandine Etcheverry; Hubert Journel; Andrée Delahaye; Laurent Pasquier; Dominique Bonneau; Annick Toutain; Lydie Burglen; Agnès Guichet; Eva Pipiras; Brigitte Gilbert-Dussardier; Brigitte Benzacken; Dominique Martin-Coignard; Catherine Henry; Albert David; Josette Lucas; Jean Mosser; Véronique David; Sylvie Odent; Alain Verloes; Christèle Dubourg
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
European journal of medical genetics 2010;53(2):66-75.
2010: Sandra Mercier; Christèle Dubourg; Marion Belleguic; Laurent Pasquier; Philippe Loget; Josette Lucas; Claude Bendavid; Sylvie Odent
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):191-6.
2009: Sophie Jaillard; Christèle Dubourg; M Gérard-Blanluet; A Delahaye; Laurent Pasquier; C Dupont; C Henry; A-C Tabet; J Lucas; A Aboura; Véronique David; B Benzacken; Sylvie Odent; E Pipiras
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Journal of medical genetics 2009;46(12):847-55.
2009: Claude Bendavid; Lucie Rochard; Christèle Dubourg; Jonathan Seguin; Isabelle Gicquel; Laurent Pasquier; Jaqueline Vigneron; Annie Laquerrière; Pascale Marcorelles; Corinne Jeanne-Pasquier; Caroline Rouleau; Sylvie Jaillard; Jean Mosser; Sylvie Odent; Veronique David
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
Human mutation 2009;30(8):1175-82.
2007: Claude Bendavid; Christèle Dubourg; Laurent Pasquier; Isabelle Gicquel; Simon Le Gallou; Stéphanie Mottier; Marie-Renée Durou; Catherine Henry; Sylvie Odent; Véronique David
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
Human mutation 2007;28(12):1189-97.
2007: Karine Poirier; David A Keays; Fiona Francis; Yoann Saillour; Nadia Bahi; Sylvie Manouvrier; Catherine Fallet-Bianco; Laurent Pasquier; Annick Toutain; Françoise Phan Dinh Tuy; Thierry Bienvenu; Sylvie Joriot; Sylvie Odent; Dorothée Ville; Isabelle Desguerre; Alice Goldenberg; Marie-Laure Moutard; Jean-Pierre Fryns; Hilde Van Esch; Robert Justin Harvey; Christian Siebold; Jonathan Flint; Cherif Beldjord; Jamel Chelly
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Human mutation 2007;28(11):1055-64.
2007: Christèle Dubourg; Claude Bendavid; Laurent Pasquier; Catherine Henry; Sylvie Odent; Véronique David
Holoprosencephaly.
Orphanet journal of rare diseases 2007;2():8.
2007: Claude Bendavid; Laurent Pasquier; Tanguy Watrin; Karine Morcel; Josette Lucas; Isabelle Gicquel; Christèle Dubourg; Catherine Henry; Véronique David; Sylvie Odent; Jean Levêque; Isabelle Pellerin; Daniel Guerrier
Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.
European journal of medical genetics 2007;50(1):66-72.
2006: Claude Bendavid; Bassem R Haddad; A Griffin; Marjan Huizing; Christèle Dubourg; Isabelle Gicquel; Luciane Cavalli; Laurent Pasquier; Alan L Shanske; R Long; Maia V Ouspenskaia; Sylvie Odent; Felicitas Lacbawan; Véronique David; Maximilian Muenke
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
Journal of medical genetics 2006;43(6):496-500.
2006: Claude Bendavid; Christèle Dubourg; Isabelle Gicquel; Laurent Pasquier; Pascale Saugier-Veber; Marie-Renée Durou; Sylvie Jaillard; Thierry Frébourg; Bassem R Haddad; Catherine Henry; Sylvie Odent; Véronique David
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
Human genetics 2006;119(1-2):1-8.
2006: Laurent Pasquier; V Laugel; Leila Lazaro; Hélène Dollfus; Hubert Journel; P Edery; A Goldenberg; D Martin; D Heron; M Le Merrer; P Rustin; Sylvie Odent; A Munnich; A Sarasin; V Cormier-Daire
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.
Archives of disease in childhood 2006;91(2):178-82.
2006: Daniel Guerrier; Thomas Mouchel; Laurent Pasquier; Isabelle Pellerin
The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches.
Journal of negative results in biomedicine 2006;5():1.
2005: Laurent Pasquier; Christèle Dubourg; M Gonzales; Leila Lazaro; Véronique David; Sylvie Odent; Férechté Encha-Razavi
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.
Journal of medical genetics 2005;42(1):e4.
2005: Patrizia Amati-Bonneau; Laurent Pasquier; E Lainey; Marc FERRE; Sylvie Odent; Yves Malthièry; Dominique Bonneau; Pascal Reynier
Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.
Clinical genetics 2005;67(1):102-3.
2004: Leila Lazaro; Christèle Dubourg; Laurent Pasquier; Franck Le Duff; Martine Blayau; Marie-Renée Durou; Armelle Thomas de la Pintière; Céline Aguilella; Véronique David; Sylvie Odent
Phenotypic and molecular variability of the holoprosencephalic spectrum.
American journal of medical genetics. Part A 2004;129A(1):21-4.
2004: Pierre Bétrémieux; Théophile Gaillot; Armelle Thomas de la Pintière; Alain Beuchée; Laurent Pasquier; Edouard Habonimana; Gwénaelle Le Bouar; Bernard Branger; Joëlle Milon; Benjamin Frémond; Eric Wodey; Sylvie Odent; Patrice Poulain; Patrick Pladys
Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study.
Prenatal diagnosis 2004;24(7):487-93.
2004: Christèle Dubourg; Leila Lazaro; Laurent Pasquier; Claude Bendavid; Martine Blayau; Franck Le Duff; Marie-Renée Durou; Sylvie Odent; Véronique David
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
Human mutation 2004;24(1):43-51.
2003: Patrizia Amati-Bonneau; Sylvie Odent; Christelle Derrien; Laurent Pasquier; Yves Malthiéry; Pascal Reynier; Dominique Bonneau
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
American journal of ophthalmology 2003;136(6):1170-1.
2003: Christèle Dubourg; Leila Lazaro; Martine Blayau; Laurent Pasquier; Marie-Renée Durou; Sylvie Odent; Véronique David
[Genetic study of holoprosencephaly].
Annales de biologie clinique 2003;61(6):679-87.
2003: Céline Aguilella; Christèle Dubourg; Jocelyne Attia-Sobol; Jacqueline Vigneron; Martine Blayau; Laurent Pasquier; Leila Lazaro; Sylvie Odent; Véronique David
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.
Human genetics 2003;112(2):131-4.
2002: Pierre Bétrémieux; Stéphanie Lionnais; Alain Beuchée; Patrick Pladys; Gwénaelle Le Bouar; Laurent Pasquier; Laurence Loeuillet-Olivo; Olivier Azzis; Joëlle Milon; Eric Wodey; Benjamin Frémond; Sylvie Odent; Patrice Poulain
Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital.
Prenatal diagnosis 2002;22(11):988-94.
2002: Laurence Faivre; Philippe Gosset; Valérie Cormier-Daire; Sylvie Odent; Jeanne Amiel; Irina Giurgea; Marie-Cécile Nassogne; Laurent Pasquier; Arnold Munnich; Serge Romana; Marguerite Prieur; Michel Vekemans; Marie-Christine De Blois; Catherine Turleau
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
European journal of human genetics : EJHG 2002;10(11):699-706.
2000: Laurent Pasquier; Christèle Dubourg; Martine Blayau; Leila Lazaro; B Le Marec; Véronique David; Sylvie Odent
A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
European journal of human genetics : EJHG 2000;8(10):797-800.
1999: B Le Marec; Laurent Pasquier; C Dugast; M Gosselin; Sylvie Odent
Gastric carcinoma in Sotos syndrome (cerebral gigantism).
Annales de génétique 1999;42(2):113-6.