N
Nilma Almeida de Assis
Researcher at University of Bonn
Publications - 6
Citations - 907
Nilma Almeida de Assis is an academic researcher from University of Bonn. The author has contributed to research in topics: IRF6 & Single-nucleotide polymorphism. The author has an hindex of 5, co-authored 6 publications receiving 807 citations.
Papers
More filters
Journal ArticleDOI
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Stefanie Birnbaum,Stefanie Birnbaum,Kerstin U. Ludwig,Heiko Reutter,Stefan Herms,Michael Steffens,Michele Rubini,Carlotta Baluardo,Melissa Ferrian,Nilma Almeida de Assis,Margrieta A. Alblas,Sandra Barth,Jan Freudenberg,Carola Lauster,Gül Schmidt,Martin Scheer,Bert Braumann,Stefaan J. Bergé,Rudolf H. Reich,Franziska Schiefke,Alexander Hemprich,Simone Pötzsch,Régine P.M. Steegers-Theunissen,Bernd Pötzsch,Susanne Moebus,Bernhard Horsthemke,Franz-Josef Kramer,Thomas F. Wienker,Peter A. Mossey,Peter Propping,Sven Cichon,Per Hoffmann,Michael Knapp,Markus M. Nöthen,Elisabeth Mangold +34 more
TL;DR: A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance.
Journal ArticleDOI
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
Elisabeth Mangold,Kerstin U. Ludwig,Stefanie Birnbaum,Carlotta Baluardo,Melissa Ferrian,Stefan Herms,Heiko Reutter,Nilma Almeida de Assis,Taofik Al Chawa,Manuel Mattheisen,Michael Steffens,Sandra Barth,Nadine Kluck,Anna Paul,Jessica Becker,Carola Lauster,Gül Schmidt,Bert Braumann,Martin Scheer,Rudolf H. Reich,Alexander Hemprich,Simone Pötzsch,Bettina Blaumeiser,Susanne Moebus,Michael Krawczak,Stefan Schreiber,Thomas Meitinger,Hans Erich Wichmann,Régine P.M. Steegers-Theunissen,Franz Josef Kramer,Sven Cichon,Peter Propping,Thomas F. Wienker,Michael Knapp,Michele Rubini,Peter A. Mossey,Per Hoffmann,Markus M. Nöthen +37 more
TL;DR: A genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/ P triads is conducted.
Journal ArticleDOI
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
Stefanie Birnbaum,Kerstin U. Ludwig,Heiko Reutter,Stefan Herms,Nilma Almeida de Assis,Amalia Diaz-Lacava,Sandra Barth,Carola Lauster,Gül Schmidt,Martin Scheer,Mitra Saffar,Markus Martini,Rudolf H. Reich,Franziska Schiefke,Alexander Hemprich,Simone Pötzsch,Bernd Pötzsch,Thomas F. Wienker,Per Hoffmann,Michael Knapp,Franz-Josef Kramer,Markus M. Nöthen,Elisabeth Mangold +22 more
TL;DR: The involvement of the IRF6 variant, rs642961, in the etiology of NSCL/P in the Central European population is confirmed and evidence suggestive of an independent protective effect of the coding variant V274I is found.
Journal ArticleDOI
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate
Stefanie Birnbaum,Heiko Reutter,Meinhard Mende,Nilma Almeida de Assis,Amalia Diaz-Lacava,Stefan Herms,Martin Scheer,Carola Lauster,Bert Braumann,Gül Schmidt,Markus Martini,Alexander Hemprich,Simone Pötzsch,Michael Knapp,Markus M. Nöthen,Franz-Josef Kramer,Elisabeth Mangold +16 more
TL;DR: The results confirm the potential involvement of MYH9 in the etiology of NSCL/P in patients of Central European origin, although further studies are warranted to determine its exact pathogenetic role.
Journal ArticleDOI
SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients.
Nilma Almeida de Assis,Stefanie Nowak,Kerstin U. Ludwig,Heiko Reutter,Jennifer Vollmer,Stefanie Heilmann,Nadine Kluck,Carola Lauster,Bert Braumann,Rudolf H. Reich,Alexander Hemprich,Michael Knapp,Thomas F. Wienker,Franz-Josef Kramer,Per Hoffmann,Markus M. Nöthen,Elisabeth Mangold +16 more
TL;DR: The hypothesis that common or rare variants in SUMO1 play a significant role in the development of NSCL/P in Central-European patients is not supported, but smaller effects of common variants or the presence of rare high penetrance mutations in other non-investigated familial cases cannot be excluded.