Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Autor: Khalid Aldhorae, Franz-Josef Kramer, Hannah Schuenke, Gül Schmidt, Elisabeth Mangold, Johanna Klamt, Janis Stavusis, Heiko Reutter, Rudolf Reiter, Pinar Gültepe, Guntram Borck, Markus M. Nöthen, Andrea Hofmann, Miho Ishida, Bert Braumann, Ruth Raff, Philip Stanier, Nina Ishorst, Baiba Lace, Anne C. Böhmer, Michael Knapp, Alexander Hemprich, Sibylle Brosch, Lina Gölz, Gudrun E. Moore, Ann-Kathrin Hoebel, Peter Tessmann, Rimante Seselgyte, Stefanie Nowak, Kerstin U. Ludwig, Andreas Jäger, Rudolf H. Reich, Thomas Kreusch

Publikováno v: American journal of human genetics. 98(4)

Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93973bc5ede729d0f80a6972287667e
https://pubmed.ncbi.nlm.nih.gov/27018475

Analysis of Susceptibility Loci for Nonsyndromic Orofacial Clefting in a European Trio Sample

Autor: Paola Franceschelli, Marieke Bouwman-Both, Peter A. Mossey, Régine P.M. Steegers-Theunissen, Kerstin U. Ludwig, Markus M. Nöthen, Peter Tessmann, Jan Lindemans, Anne C. Böhmer, Anne M. Molloy, Elisabeth Mangold, Borut Peterlin, V. Aiello, Michael Knapp, Michele Rubini

Publikováno v: American Journal of Medical Genetics. Part A, 161, 2545-2549
American Journal of Medical Genetics. Part A, 161, 10, pp. 2545-2549
American Journal of Medical Genetics Part A, 161(10), 2545-2549. Wiley-Liss Inc.

Contains fulltext : 126522.pdf (Publisher’s version ) (Closed access) Nonsyndromic cleft lip with or without cleft palate (NSCL/P), the most common type of orofacial clefting, is one of the most frequent congenital defects. Based on epidemiological

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::906d3792c095f56d71e63e323b04b937
https://doi.org/10.1002/ajmg.a.36141

Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder

Autor: Martin Hautzinger, Manuel Mattheisen, Srdjan Djurovic, Jennifer Vollmer, Marian L. Hamshere, Michael Alexander, Alexander S. Tiganov, Maria Grigoroiu-Serbanescu, Johanna Sasse, Markus J. Schwarz, Scott D. Gordon, Michael Bauer, Lilia I. Abramova, René Breuer, H.-Erich Wichmann, Susanne Lucae, Susanne Moebus, Britta Haenisch, Carmen C. Diaconu, Grant W. Montgomery, Johannes Schumacher, Kari Stefansson, Jean-Pierre Kahn, Nicholas G. Martin, Wolfgang Maier, Piotr M. Czerski, Michael Steffens, Frank Bellivier, Ole A. Andreassen, Mark Lathrop, Joanna Hauser, Bertram Müller-Myhsok, Stéphane Jamain, Thomas F. Wienker, Omar Gustafsson, Hreinn Stefansson, Nicholas John Craddock, Lejla Kapur-Pojskić, Peter Tessmann, Chantal Henry, Fermín Mayoral, Michael Conlon O'Donovan, Jutta Kammerer-Ciernioch, Fabio Rivas, Liliana Oruc, Markus M. Nöthen, Alexander Chuchalin, Andreas Zimmer, Moritz Weingarten, Stefan Schreiber, Engilbert Sigurdsson, Sven Cichon, Adam Wright, Bruno Etain, Marcella Rietschel, Peter Propping, Franziska Degenhardt, Simon Heath, Thomas G. Schulze, Christine Schmäl, Galina Pantelejeva, Michael John Owen, Helmut Vedder, Christian Meesters, Andreas Reif, Gulja Babadjanova, Philip B. Mitchell, Jana Strohmaier, Thomas W. Mühleisen, Peter R. Schofield, Stefan Herms, Marion Leboyer, Stacy Steinberg, Sarah E. Medland, Lutz Priebe, Xavier Miró

Publikováno v: The American Journal of Human Genetics. (3):372-381

We conducted a genome-wide association study (GWAS) and a follow-up study of bipolar disorder (BD), a common neuropsychiatric disorder. In the GWAS, we investigated 499,494 autosomal and 12,484 X-chromosomal SNPs in 682 patients with BD and in 1300 c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8372750100a2d11d32ccfa1515e67abf