Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rahim Masood"'
Autor:
Rahim Masood, Beatrice Oneda, Dunja Niedrist, Silvia Azzarello-Burri, Reza Asadollahi, Albert Schinzel, Oskar G. Jenni, Rosa Baldinger, B Latal, Anita Rauch
Publikováno v:
Molecular Syndromology. 8:266-271
Chromosomal mosaicism, which represents a diagnostic challenge for detection and interpretation, has been described in several genetic conditions. It can contribute to a large phenotypic variation in diseases. At analysis of a well-characterized coho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3470a5e8c93b42ac8474b7caa25a04a7
https://doi.org/10.1159/000477189
https://doi.org/10.1159/000477189
Autor:
Joana Figueiro-Silva, Reza Asadollahi, Ratna Dua Puri, Heinrich Sticht, Lance H. Rodan, Michael Papik, Beatrice Oneda, Anselm H. C. Horn, Sharyn A. Lincoln, Paranchai Boonsawat, Katharina Steindl, Ishwar C. Verma, Beatrice Latal, Laura Gogoll, Anita Rauch, Pascal Joset, Séverine Drunat, Oskar G. Jenni, Dunja Niedrist, Frenny Sheth, Markus Zweier, Alain Verloes, Robert Steinfeld, Dennis Kraemer, Chaitanya Datar, Barbara Plecko, Silvia Azzarello-Burri, Marcella Zollino, Ruxandra Bachmann-Gagescu, Rahim Masood, Sandrine Passemard
Publikováno v:
Genetics in Medicine
Purpose\ud Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic landscape of an unselected cohort of patients with microcephaly.\ud Methods\ud We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485bb5c147b1de5a79d2baef621641c5
http://hdl.handle.net/10807/134205
http://hdl.handle.net/10807/134205
Autor:
Pavel Krejci, Katharina Steindl, Malgorzata Taralczak, Rahim Masood, Josef Wisser, Adriano Guetg, Regina Reissmann, Rosa Baldinger, Jean-Claude Fauchère, Anita Rauch, Beatrice Oneda, Irina Reshetnikova
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology. 200:72-75
Objective Non-invasive prenatal testing (NIPT) is increasingly being used in prenatal aneuploidy screening. The objective of this study was to assess the positive predictive value in our cohort of 68 cases with positive NIPT result. In addition, we w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b238d8ea034fef144c567603b374fe
https://doi.org/10.1016/j.ejogrb.2016.02.042
https://doi.org/10.1016/j.ejogrb.2016.02.042
Autor:
Albert Schinzel, Oliver Kundert, Dunja Niedrist, Kaspar Rufibach, Mariluce Riegel, Rahim Masood, Bernhard Steiner
Publikováno v:
European Journal of Human Genetics. 23:466-472
The past decades have seen a remarkable shift in the demographics of childbearing in Western countries. The risk for offspring with chromosomal aneuploidies with advancing maternal age is well known, but most studies failed to demonstrate a paternal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7432a50366cbf97fe90d703914c8f68
https://doi.org/10.1038/ejhg.2014.122
https://doi.org/10.1038/ejhg.2014.122
Autor:
Josef Wisser, Pascal Joset, Denise Morotti, Rahim Masood, Pavel Krejci, Katharina Steindl, Irina Reshetnikova, Beatrice Oneda, Regina Reissmann, Alessandra Baumer, Rosa Baldinger, Dunja Niedrist, Gundula Hebisch, Reza Asadollahi, Margaret Hüsler, Anita Rauch, René Mueller, Elke Prentl, Roland Zimmermann, Nicole Ochsenbein-Kölble, Deborah Bartholdi, Marzia Faranda, Christian Breymann
Publikováno v:
Prenatal Diagnosis. 34:525-533
OBJECTIVE The objective of this study was to determine for the first time the reliability and the diagnostic power of high-resolution microarray testing in routine prenatal diagnostics. METHODS We applied high-resolution chromosomal microarray testin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::053df60e620a1a2db446ad84ef90cd52
https://doi.org/10.1002/pd.4342
https://doi.org/10.1002/pd.4342