New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

Autor: Laurent Pasquier, Chloé Quélin, Véronique David, Sylvie Jaillard, Isabelle Gicquel, Marion Belleguic, Philippe Loget, Sandra Mercier, Christèle Dubourg, Sylvie Odent, Valérie Dupé, Nicolas Garcelon, Lucie Rochard, Claude Bendavid, Boris Campillo-Gimenez, Leslie Ratié

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2011, 48 (11), pp.752-60. ⟨10.1136/jmedgenet-2011-100339⟩
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (11), pp.752-60. ⟨10.1136/jmedgenet-2011-100339⟩

International audience; BACKGROUND: Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon. METHODS: A large European series of 645 HPE probands (and 699 relatives), co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0795f8110528966f9170b0bc4ba0bdec
https://www.hal.inserm.fr/inserm-00626407/document

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

Autor: Véronique David, Daniel E. Pineda-Alvarez, Christèle Dubourg, Erich Roessler, Maximilian Muenke

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2010, 154C (1), pp.93-101. ⟨10.1002/ajmg.c.30253⟩
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.93-101. ⟨10.1002/ajmg.c.30253⟩

International audience; Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c437d4093802a3fd595091a87edd2f68
https://www.hal.inserm.fr/inserm-00462036/document

Genetic counseling and 'molecular' prenatal diagnosis of holoprosencephaly (HPE)

Autor: Sandra Mercier, Sylvie Odent, Marion Belleguic, Christèle Dubourg, Josette Lucas, Claude Bendavid, Philippe Loget, Laurent Pasquier

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2010, 154C (1), pp.191-6. ⟨10.1002/ajmg.c.30246⟩
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.191-6. ⟨10.1002/ajmg.c.30246⟩

International audience; Holoprosencephaly (HPE) is a structural anomaly of the developing brain in which the forebrain fails to divide into two separate hemispheres and ventricles. The poor prognosis in the most severe forms justifies the importance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca75290e397dc1e61d0d2ec528db168a
https://www.hal.inserm.fr/inserm-00461987

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Autor: Raoul C.M. Hennekam, Ann Haskins Olney, Elizabeth Roeder, Sherri J. Bale, Sylvie Odent, Nan Zhou, Mauricio R. Delgado, Robert Long, Véronique David, Elizabeth McPherson, Michelle Clemens, Nancy J. Clegg, Ute Hehr, Aimee D C Paulussen, Erich Roessler, Eric Levey, Ewa Pronicka, Derek A. T. Cummings, Lars-Erik Wehner, Felicitas Lacbawan, Donald W. Hadley, Sandra Mercier, Daniel E. Pineda-Alvarez, Jin S. Hahn, Sue Kenwrick, Sophia M. Bous, Christèle Dubourg, Carol Booth, Elaine E. Stashinko, Amelia A. Keaton, Hubert J T Smeets, Joan Z. Balog, Anna Tylki-Szymańska, Jorge I. Vélez, Maximilian Muenke, Chayim Can Schell-Apacik, Ronald L. Thomas, Emily Hardisty, Kenneth N. Rosenbaum, Benjamin D. Solomon, Dagmar Wieczorek

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal of Medical Genetics, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal of Medical Genetics, 47(8), 513-524. BMJ Publishing Group
Journal of medical genetics, 47(8), 513-524. BMJ Publishing Group

Holoprosencephaly (HPE) is the most common malformation of the human forebrain, and may be due to cytogenetic anomalies, teratogens, occur in the context of a syndrome, or be due to mutations in single genes associated with non-syndromic HPE. Mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb303e051f62a85257ada1175479c33
https://europepmc.org/articles/PMC3208626/

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci

Autor: Jaqueline Vigneron, Isabelle Gicquel, Jonathan Seguin, Caroline Rouleau, Annie Laquerrière, Véronique David, Claude Bendavid, Jean Mosser, Sylvie Jaillard, Christèle Dubourg, Sylvie Odent, Corinne Jeanne-Pasquier, Pascale Marcorelles, Lucie Rochard, Laurent Pasquier

Publikováno v: Human Mutation
Human Mutation, Wiley, 2009, 30 (8), pp.1175-82. ⟨10.1002/humu.21016⟩
Human Mutation, 2009, 30 (8), pp.1175-82. ⟨10.1002/humu.21016⟩

International audience; Holoprosencephaly (HPE) is the most frequent malformation of the brain. To date, 12 different HPE loci and 8 HPE genes have been identified from recurrent chromosomal rearrangements or from the sequencing of genes from Nodal a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c36cebe9e5efffdefbfe4305f4454ec8
https://www.hal.inserm.fr/inserm-00404487