Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Hashem Shahin"'
Autor:
Hashem Shahin, Christina Canavati, Fouad Zahdeh, Karen B. Avraham, Tamara Jaraysa, Grace Rabie, Amal Abu Rayyan, Ming K. Lee, Suleyman Gulsuner, Tom Walsh, Silvia Casadei, Mary Claire King, Lara Kamal, Dima Dweik, Zippora Brownstein, Ryan J. Carlson, Moien Kanaan
Publikováno v:
Proc Natl Acad Sci U S A
The genetic characterization of a common phenotype for an entire population reveals both the causes of that phenotype for that place and the power of family-based, population-wide genomic analysis for gene and mutation discovery. We characterized the
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease
Autor:
Ayse B. Tekinay, Haluk Topaloglu, Cenk Akbostanci, Onur Emre Onat, Hilal Unal Gulsuner, Tayfun Ozcelik, Okan Dogu, Tom Walsh, Bulent Elibol, Tulay Kansu, Suleyman Gulsuner, Ming K. Lee, Hashem Shahin, Mary Claire King, Fatma Nazli Mercan
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences
Proceedings of the National Academy of Sciences
Cataloged from PDF version of article. Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and
Autor:
Omar B. Saeed, Hashem Shahin, John A. van Aalst, Hassan J Zawahrah, Meredith G Moore, Moath Tayem
Publikováno v:
The Lancet. 393:S55
Background Orofacial clefts (OFCs) are the most common craniofacial malformation at birth worldwide, with an incidence of 1·05 out of 1000 live births in the occupied Palestinian territory. The majority of OFCs present as singletons (without a famil
Autor:
Suleyman Gulsuner, Tom Walsh, Amanda C. Watts, Ming K. Lee, Anne M. Thornton, Silvia Casadei, Caitlin Rippey, Hashem Shahin, Vishwajit L. Nimgaonkar, Rodney C.P. Go, Robert M. Savage, Neal R. Swerdlow, Raquel E. Gur, David L. Braff, Mary-Claire King, Jon M. McClellan, David Braff, Kristin S. Cadenhead, Monica E. Calkins, Dorcas J. Dobie, Robert Freedman, Michael Green, Tiffany Greenwood, Ruben C. Gur, Laura Lazzeroni, Gregory Light, Keith Nuechterlein, Ann Olincy, Al Radant, Amrita Ray, Nik Schork, Larry J. Seidman, Larry Siever, Jeremy Silverman, William S. Stone, Catherine Sugar, Neal Swerdlow, Debby Tsuang, Ming Tsuang, Bruce Turetsky, Tolulope Aduroja, Trina Allen, L. Diane Bradford, Bernie Devlin, Neil B. Edwards, Rohan Ganguli, Joseph Kwentus, Adrienne C. Lahti, Paul Lyons, Kim Mathos, Roberta May, Steve McLeod-Bryant, Joseph P. McEvoy, Laura Montgomery-Barefield, Judith O’Jile, Al Santos, Charles L. Swanson, William Wilson
Publikováno v:
Cell. 154:518-529
SummaryGenes disrupted in schizophrenia may be revealed by de novo mutations in affected persons from otherwise healthy families. Furthermore, during normal brain development, genes are expressed in patterns specific to developmental stage and neuroa
Autor:
Tom Walsh, Amiel A. Dror, Dorith Raviv, Moien Kanaan, Hashem Shahin, Vanessa Walsh, Karen B. Avraham, Mary Claire King
Publikováno v:
Mamm Genome
The motor protein myosin IIIA is critical for maintenance of normal hearing. Homozygosity and compound heterozygosity for loss-of-function mutations in MYO3A, which encodes myosin IIIA, are responsible for inherited human progressive hearing loss DFN
Autor:
Yael Politi, Amiel A. Dror, Silvia Dossena, Hashem Shahin, Karen B. Avraham, Steve Weiner, Danielle R. Lenz, Martin Hrabé de Angelis, Charity Nofziger, Markus Paulmichl, Helmut Fuchs
Publikováno v:
J. Biol. Chem. 285, 21724-21735 (2010)
Calcium oxalate stone formation occurs under pathological conditions and accounts for more than 80% of all types of kidney stones. In the current study, we show for the first time that calcium oxalate stones are formed in the mouse inner ear of a gen
Autor:
Duygu Duman, Justin Price, Xue Zhong Liu, Burcu Ozturk Hismi, Moien Kanaan, Zheng-Yi Chen, Mingqian Huang, Sevsen Kulaksizoglu, Hashem Shahin, Hilal Özdağ, Guney Bademci, Seyra Erbek, F. Basak Cengiz, Maria Grigoriadou, Mustafa Tekin, Suna Tokgoz-Yilmaz, Susan H. Blanton, Stephan Züchner, Nejat Akar, Erkan Yildirim, Asli Sirmaci, Mary Claire King, Banu Ozturk, Haris Kokotas, Michael B. Petersen
Publikováno v:
The American Journal of Human Genetics. 86:797-804
WOS: 000278045300016
PubMed: 20451170
More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during th
PubMed: 20451170
More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during th
Autor:
Suleyman Gulsuner, Okan Dogu, Ming K. Lee, Mary Claire King, Haluk Topaloglu, Ayse B. Tekinay, Cenk Akbostanci, Hilal Unal Gulsuner, Hashem Shahin, Onur Emre Onat, Fatma Nazli Mercan, Tom Walsh, Tayfun Ozcelik, Bulent Elibol, Tulay Kansu
Publikováno v:
PNAS
In addressing our recent report of HTRA2 p.G399S as the gene and mutation responsible for essential tremor and subsequent Parkinson disease in a large kindred (1), Tzoulis et al. (2) screened this mutation in patients with Parkinson disease, essentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21bcd0397391e582b15aea9de684e051
https://hdl.handle.net/11693/53595
https://hdl.handle.net/11693/53595
Autor:
Jeanne Shepshelovich, Mary Claire King, Amal Abu Rayan, Karen B. Avraham, Judeh Abu Sa'ed, Moien Kanaan, Hashem Shahin, Wa'el Salhab, Ming K. Lee, Koret Hirschberg, Tom Walsh, Mustafa Tekin
Publikováno v:
Human Genomics, Vol 2, Iss 4, Pp 203-211 (2006)
Scopus-Elsevier
Human Genomics
Scopus-Elsevier
Human Genomics
Recessively inherited phenotypes are frequent in the Palestinian population, as the result of a historical tradition of marriages within extended kindreds, particularly in isolated villages. In order to characterise the genetics of inherited hearing
Autor:
Karen B. Avraham, Moien Kanaan, Araceli Álvarez, F Moreno, F J del Castillo, Alessandra Murgia, C. A. M. de Oliveira, Walter E. Nance, Kirby Siemering, Luis A. Aguirre, Hashem Shahin, Sandrine Marlin, Dominique Weil, Montserrat Rodríguez-Ballesteros, Edi Lúcia Sartorato, G. Van Camp, Hela Azaiez, Zippora Brownstein, Christine Petit, Y. Martin, Richard J.H. Smith, Hutchin Tp, M A Moreno-Pelayo, I del Castillo, Wim Wuyts, Emanuela Leonardi, Arti Pandya, Matthew R. Avenarius, H.-H. M. Dahl, Manuela Villamar
Publikováno v:
Journal of medical genetics
Hearing impairment is a common and highly heterogeneous sensory disorder. Genetic causes are thought to be responsible for more than 60% of the cases in developed countries.1 In the majority of cases, non-syndromic hearing impairment is inherited in