Publications by authors named "Michele Mathieu"

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Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.
Guillaume Jedraszak, Karine Braun, Aline Receveur, Matthieu Decamp, Joris Andrieux, Michèle Mathieu

Ann Endocrinol (Paris)· October 2015

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15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Clémence Vanlerberghe, Florence Petit, Valérie Malan, Catherine Vincent-Delorme, Sonia Bouquillon, Michèle Mathieu

Eur J Med Genet· March 2015

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Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Leire Madariaga, Vincent Morinière, Cécile Jeanpierre, Raymonde Bouvier, Philippe Loget, Michele Mathieu

Clin J Am Soc Nephrol· July 2013

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Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Edouard Cottereau, Isabelle Mortemousque, Marie-Pierre Moizard, Lydie Bürglen, Didier Lacombe, Michéle Mathieu

Am J Med Genet C Semin Med Genet· May 2013

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[What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers].
Iglika Brachot-Simeonova, Gilles Morin, Claire Gillaux, Bénédicte Demeer, Jean Gondry, Michèle Mathieu

Bull Cancer· April 2012

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Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.
Michel Crépin, Marie-Claire Dieu, Sophie Lejeune, Fabienne Escande, Denis Boidin, Michèle Mathieu

Hum Mutat· January 2012

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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Kristien P Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A Beemer, Michèle Mathieu

Eur J Hum Genet· August 2010

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A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
Julie Sarfati, Anne Guiochon-Mantel, Philippe Rondard, Isabelle Arnulf, Alfons Garcia-Piñero, Michèle Mathieu

J Clin Endocrinol Metab· February 2010

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Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.
Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attie-Bitach, Elsa Delaby, Michèle Mathieu

Am J Med Genet A· December 2009

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[A case of ectrodactyly: a private pilot with a single finger on each hand].
Alain Milhaud, Charles Piussan, Adalbert Kapandji, Michèle Mathieu, Pierre-Louis Doutrellot

Bull Acad Natl Med· March 2009

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Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, Bernard Aral, Nadège Gigot, Michèle Mathieu

Hum Mutat· February 2009

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Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?
Gilles Morin, Christine Desenclos, Cécile Jeanpetit, Nicolas Lévy, Hervé Deramond, Michèle Mathieu

Eur J Med Genet· November 2008

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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
Brigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, Isabelle Brun-Heath, Jean-Louis Serre, Michèle Mathieu

Prenat Diagn· November 2008

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Michèle Mathieu

PLoS Genet· October 2006

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Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
Aline Quenard, Saliha Yilmaz, Hervé Fontaine, Thierry Bienvenu, Anne Moncla, Michèle Mathieu

Eur J Med Genet· September 2006

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J Crow, Andrea Leitch, Bruce E Hayward, Anna Garner, Rekha Parmar, Michèle Mathieu

Nat Genet· August 2006

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Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.
Gilles Morin, Lucie Villemain, Clarisse Baumann, Michèle Mathieu, Nathalie Blanc

Clin Dysmorphol· October 2003

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Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.
Géraldine Viot, Didier Lacombe, Albert David, Michèle Mathieu, Alain de Broca

Am J Med Genet· January 2002

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