Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Delphine Fauvert"'
Autor:
P. Clement, François Vialard, Julie Rivière, Bérénice Hervé, Delphine Fauvert, Sarah Guterman
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 44:570-575
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gai
Autor:
Sarah, Guterman, Bérénice, Hervé, Julie, Rivière, Delphine, Fauvert, Patrice, Clement, François, Vialard
Publikováno v:
The journal of obstetrics and gynaecology research. 44(3)
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gai
Publikováno v:
Annals of Human Genetics. 75:439-445
Summary The prevalence of hypophosphatasia (HP), a rare metabolic disorder due to loss-of-function mutations in the ALPL gene, has never been estimated in the European population. Only one published study evaluated the incidence of severe HP at 1/100
Autor:
Isabelle Brun-Heath, Marion Gérard-Blanluet, Etienne Mornet, Jean-Louis Serre, Cath King, Delphine Fauvert, Stefani Körtge-Jung, Sarju G Mehta, Michèle Mathieu, David Chitayat, Christina Jern, Jan Liebelt, Hannele Laivuori, Carmen G. Armengod, Brigitte Simon-Bouy, Agnès Taillandier, Fabienne Prieur, Jacques Cousin, Andreas Zankl, Martine Le Merrer, Saba Sharif, Barbara Feldman, Gabriele Gillessen-Kaesbach, Martin G. Bialer
Publikováno v:
Prenatal Diagnosis. 28:993-998
Objective We Studied hypophosphatasia (HP) Mutations in 19 cases prenatally detected by Ultrasonography without familial history of HP. We correlated the Mutations with the reported ultrasound signs, and discussed genetic counseling with regard to th
Autor:
Marie-Christine Vantyghem, Delphine Fauvert, Bénédicte Duban, Florence Petit, Frenny Sheth, Roseline Caumes, Louis Vallée, Valérie Malan, Guillaume Jedraszak, Jean-Marie Cuisset, Odile Boute, Patricia Blanchet, Valérie Cormier-Daire, Matthieu Decamp, Marie Pigeyre, Marion Gérard, Joelle Roume, Sandrine Lanco-Dosen, Nathalie Lemeur, Pierre Sarda, Muriel Holder-Espinasse, Jacques Puechberty, Frédéric Bilan, Gilles Morin, Lucie Pinson, David Geneviève, Ghislaine Plessis, Bruno Delobel, Marie-Pierre Lemaitre, Sylvie Manouvrier-Hanu, Clémence Vanlerberghe, Brigitte Gilbert-Dussardier, Sonia Bouquillon, Joris Andrieux, Catherine Vincent-Delorme, Michèle Mathieu
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2015, 58 (3), pp.140-147. ⟨10.1016/j.ejmg.2015.01.002⟩
European Journal of Medical Genetics, Elsevier, 2015, 58 (3), pp.140-147. ⟨10.1016/j.ejmg.2015.01.002⟩
International audience; Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay and at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a952d3038c9029b5eaad8c504547e62
https://hal.umontpellier.fr/hal-02135606
https://hal.umontpellier.fr/hal-02135606
Publikováno v:
Annals of human genetics. 75(3)
The prevalence of hypophosphatasia (HP), a rare metabolic disorder due to loss-of-function mutations in the ALPL gene, has never been estimated in the European population. Only one published study evaluated the incidence of severe HP at 1/100,000 in
Autor:
Jean-Louis Serre, Delphine Fauvert, L. Bellazi, Agnès Taillandier, Etienne Mornet, Anne-Sophie Lia-Baldini, Philippe de Mazancourt, Isabelle Brun-Heath
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, BioMed Central, 2009, 10, pp.51. ⟨10.1186/1471-2350-10-51⟩
BMC Medical Genetics, Vol 10, Iss 1, p 51 (2009)
BMC Medical Genetics, BioMed Central, 2009, 10, pp.51. ⟨10.1186/1471-2350-10-51⟩
BMC Medical Genetics, Vol 10, Iss 1, p 51 (2009)
Background Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect. In order to determine the cause of our
Autor:
Jean-Louis Serre, Delphine Fauvert, Marc Spentchian, Etienne Mornet, B. Simon-Bouy, Gonul Ogur, Filipa Carvalho, Isabelle Brun-Heath, Saba Sharif, Ilga Grochova, Saskia A J Lesnik Oberstein, Sarju G Mehta, Agnès Taillandier, Grit Müller
Carvalho, Filipa/0000-0001-9546-4614; Oberstein, Saskia A.J. Lesnik/0000-0002-1268-8995; Brun Heath, Isabelle/0000-0002-5828-0020 WOS: 000243892800003 PubMed: 17253930 Hypophosphatasia is a rare inherited bone disorder characterized by defective bone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd424a83e8fb14eb16f23c5ec21f867
https://doi.org/10.1089/gte.2006.10.252
https://doi.org/10.1089/gte.2006.10.252