Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Verena Rupp"'
Autor:
Sudipto Roy, Noémi van Hul, Janine Altmüller, Hyungwon Choi, Nur'Ain Binte Ali, Xavier Bisteau, Shuhui Lim, Christian Windpassinger, Stéphane Blouin, Verena Rupp, Carine Bonnard, Franz Grill, Byrappa Venkatesh, Bruno Reversade, Rudolf Ganger, Vincenzo Coppola, S. Zakiah A. Talib, Klaus Klaushofer, Majid Alfadhel, Gökhan Yigit, Farid Ben Chehida, Paul Roschger, Ali Al Kaissi, Matias J. Caldez, Umut Altunoglu, Bernd Wollnik, Hülya Kayserili, Lionel Van Maldergem, Alvin Yu Jin Ng, Sameh A. Youssef, Lino Tessarollo, Katharina M. Roetzer, Hao Lu, Philipp Kaldis, Juliette Piard, Alain de Bruin, Sumanty Tohari
Publikováno v:
American Journal of Human Genetics
American journal of human genetics, 101(3), 391-403. Cell Press
American Journal of Human Genetics, 101(3), 391. Cell Press
American journal of human genetics, 101(3), 391-403. Cell Press
American Journal of Human Genetics, 101(3), 391. Cell Press
In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, an
Autor:
Christian Windpassinger, Shahid Mahmood Baig, Muzammil Ahmad Khan, Muhammad Sajid Hussain, Pierre Gönczy, Janine Altmüller, Peter Nürnberg, Wolfgang Höhne, Muhammad Ansar, Christian Enzinger, Michel O. Steinmetz, Meritxell Orpinell, John B. Vincent, Verena Rupp, Holger Thiele, Michael R. Speicher, Gudrun Nürnberg
Publikováno v:
Human Molecular Genetics. 23:5940-5949
Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH).
Autor:
William R. Wilcox, Benedikt Schoser, Aliz R. Rao, Alicia Vaglio, Stanley F. Nelson, Roberto Quadrelli, Yuan Xue, Verena Rupp, Gudrun Schapacher-Tilp, Christine Beichler, Christian Windpassinger
Publikováno v:
Circulation. Cardiovascular genetics. 9(2)
Background— Previously, we reported a rare X-linked disorder, Uruguay syndrome in a single family. The main features are pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and cardiac ventricular hypertroph
Autor:
Verena Rupp, Muzammil Ahmad Khan, Muhammad Ayaz Khan, Muhammad Ansar, Muhammad Pervaiz Khan, Christian Windpassinger
Publikováno v:
Journal of genetics. 93(2)
Autor:
Bjoern, Neubauer, Katharina, Machura, Verena, Rupp, Michelle D, Tallquist, Christer, Betsholtz, Maria Luisa S, Sequeira-Lopez, R, Ariel Gomez, Charlotte, Wagner
Publikováno v:
Physiological Reports
Apart from their endocrine functions renin-expressing cells play an important functional role as mural cells of the developing preglomerular arteriolar vessel tree in the kidney. The recruitment of renin-expressing cells from the mesenchyme to the ve
Autor:
Andrea Berghold, Heinz Sill, Christine Beham-Schmid, Herwig Lackner, Verena Rupp, Armin Zebisch, Karin Lind, Albert Wölfler, Werner Olipitz, Michael R. Speicher, Eduard Schulz, Jochen B. Geigl, Peter Ulz, Angelika Valentin
Publikováno v:
Journal of medical genetics. 49(7)
Background Therapy related myeloid neoplasms (t-MNs) are complex diseases originating from an interplay between exogenous toxicities and a susceptible organism. It has been hypothesised that in a subset of cases t-MNs develop in the context of heredi
Autor:
Dan Doherty, Falak Sher Khan, Rosanna Weksberg, Roland Malli, Shahnaz Ibrahim, Abdul Noor, Christian Windpassinger, Verena Rupp, Ghazanfar Ali, John B. Vincent, Michaela Frye, Akshita K. Vincent, Gisele E. Ishak, Muhammad Ansar, Shobbir Hussain, Joana V. Flores, Muzammil Ahmad Khan, Muhammad Rafiq, Muhammad Ayub
Publikováno v:
American journal of human genetics, 2012, Vol.90(5), pp.856-863 [Peer Reviewed Journal]
Causes of autosomal-recessive intellectual disability (ID) have, until very recently, been under researched because of the high degree of genetic heterogeneity. However, now that genome-wide approaches can be applied to single multiplex consanguineou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::905e526199c36fcb03547c57752ed73c
http://dro.dur.ac.uk/9879/
http://dro.dur.ac.uk/9879/
Publikováno v:
BMC Medical Genetics
Background Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities. Case presentation In this study we report on t