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1.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Huber, Céline; Faqeih, Eissa Ali; Bartholdi, Deborah; Bole-Feysot, Christine; Borochowitz, Zvi; Cavalcanti, Denise P; Frigo, Amandine; Nitschke, Patrick; Roume, Joelle; Santos, Heloísa G; Shalev, Stavit A; Superti-Furga, Andrea; Delezoide, Anne-Lise; Le Merrer, Martine; Munnich, Arnold; Cormier-Daire, Valérie.

Am J Hum Genet; 92(1): 144-9, 2013 Jan 10.

Artículo en Inglés | MEDLINE | ID: mdl-23273569

2.

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Shalata, Adel; Ramirez, Maria C; Desnick, Robert J; Priedigkeit, Nolan; Buettner, Christoph; Lindtner, Claudia; Mahroum, Mohammed; Abdul-Ghani, Muhammad; Dong, Feng; Arar, Nazik; Camacho-Vanegas, Olga; Zhang, Rui; Camacho, Sandra C; Chen, Ying; Ibdah, Mwafaq; DeFronzo, Ralph; Gillespie, Virginia; Kelley, Kevin; Dynlacht, Brian D; Kim, Sehyun; Glucksman, Marc J; Borochowitz, Zvi U; Martignetti, John A.

Am J Hum Genet; 93(6): 1061-71, 2013 Dec 05.

Artículo en Inglés | MEDLINE | ID: mdl-24268657

3.

Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.

Gilbar, Roy; Shalev, Stavit; Spiegel, Ronen; Pras, Elon; Berkenstadt, Michal; Sagi, Michal; Ben-Yehuda, Adi; Mor, Pnina; Perry, Shlomit; Zaccai, Tzipora Falik; Borochowitz, Zvi; Barnoy, Sivia.

J Genet Couns; 25(2): 314-24, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26371363

4.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.

Sarig, Ofer; Nahum, Sagi; Rapaport, Debora; Ishida-Yamamoto, Akemi; Fuchs-Telem, Dana; Qiaoli, Li; Cohen-Katsenelson, Ksenya; Spiegel, Ronen; Nousbeck, Janna; Israeli, Shirli; Borochowitz, Zvi-Uri; Padalon-Brauch, Gilly; Uitto, Jouni; Horowitz, Mia; Shalev, Stavit; Sprecher, Eli.

Am J Hum Genet; 91(2): 337-42, 2012 Aug 10.

Artículo en Inglés | MEDLINE | ID: mdl-22840363

5.

Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient.

Simon, Amos J; Lev, Atar; Jeison, Marta; Borochowitz, Zvi U; Korn, David; Lerenthal, Yaniv; Somech, Raz.

J Clin Immunol; 34(1): 76-83, 2014 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-24197801

6.

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees.

Silberstein, Mark; Weissbrod, Omer; Otten, Lars; Tzemach, Anna; Anisenia, Andrei; Shtark, Oren; Tuberg, Dvir; Galfrin, Eddie; Gannon, Irena; Shalata, Adel; Borochowitz, Zvi U; Dechter, Rina; Thompson, Elizabeth; Geiger, Dan.

Bioinformatics; 29(2): 197-205, 2013 Jan 15.

Artículo en Inglés | MEDLINE | ID: mdl-23162081

7.

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.

Walder, Roxanne Y; Landau, Daniel; Meyer, Peter; Shalev, Hanna; Tsolia, Maria; Borochowitz, Zvi; Boettger, Melanie Barbara; Beck, Gretel E; Englehardt, Richard K; Carmi, Rivka; Sheffield, Val C.

Nat Genet; 31(2): 171-4, 2002 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-12032570

8.

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Bargal, Ruth; Cormier-Daire, Valerie; Ben-Neriah, Ziva; Le Merrer, Martine; Sosna, Jacob; Melki, Judith; Zangen, David H; Smithson, Sarah F; Borochowitz, Zvi; Belostotsky, Ruth; Raas-Rothschild, Annick.

Am J Hum Genet; 84(1): 80-4, 2009 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-19110212

9.

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Campos-Xavier, Ana Belinda; Martinet, Danielle; Bateman, John; Belluoccio, Dan; Rowley, Lynn; Tan, Tiong Yang; Baxová, Alica; Gustavson, Karl-Henrik; Borochowitz, Zvi U; Innes, A Micheil; Unger, Sheila; Beckmann, Jacques S; Mittaz, Lauréane; Ballhausen, Diana; Superti-Furga, Andrea; Savarirayan, Ravi; Bonafé, Luisa.

Am J Hum Genet; 84(6): 760-70, 2009 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-19481194

10.

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

Mandel, Hannah; Shemer, Revital; Borochowitz, Zvi U; Okopnik, Marina; Knopf, Carlos; Indelman, Margarita; Drugan, Arie; Tiosano, Dov; Gershoni-Baruch, Ruth; Choder, Mordechai; Sprecher, Eli.

Am J Hum Genet; 82(1): 39-47, 2008 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-18179883

11.

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

Shalata, Adel; Furman, Haya; Adir, Vardit; Adir, Noam; Hujeirat, Yasir; Shalev, Stavit A; Borochowitz, Zvi U.

Muscle Nerve; 41(4): 464-9, 2010 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-19697366

12.

[60 years of medical genetics in Israel].

Shalev, Stavit A; Borochowitz, Zvi U; Zlotogora, Joel.

Harefuah; 149(2): 91-4, 124, 2010 Feb.

Artículo en Hebreo | MEDLINE | ID: mdl-20549926

13.

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.

Reish, Orit; Borochowitz, Zvi U; Adir, Vardit; Shohat, Mordechai; Karpati, Mazal; Shtorch, Atalia; Orr-Urtreger, Avi; Yaron, Yuval; Shalev, Stavit; Fares, Fuad; Gershoni-Baruch, Ruth; Falik-Zaccai, Tzipora C; Chapman-Shimshoni, Daphne.

Genet Med; 11(2): 101-3, 2009 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-19265749

14.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Grigelioniene, Giedre; Suzuki, Hiroshi I; Taylan, Fulya; Mirzamohammadi, Fatemeh; Borochowitz, Zvi U; Ayturk, Ugur M; Tzur, Shay; Horemuzova, Eva; Lindstrand, Anna; Weis, Mary Ann; Grigelionis, Gintautas; Hammarsjö, Anna; Marsk, Elin; Nordgren, Ann; Nordenskjöld, Magnus; Eyre, David R; Warman, Matthew L; Nishimura, Gen; Sharp, Phillip A; Kobayashi, Tatsuya.

Nat Med; 25(4): 583-590, 2019 04.

Artículo en Inglés | MEDLINE | ID: mdl-30804514

15.

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

Abu Sa'd, Judeh; Indelman, Margarita; Pfendner, Ellen; Falik-Zaccai, Tzipora C; Mizrachi-Koren, Mordechai; Shalev, Stavit; Ben Amitai, Dani; Raas-Rothshild, Annick; Adir-Shani, Ayelet; Borochowitz, Zvi-Uri; Gershoni-Baruch, Ruth; Khayat, Morad; Landau, Daniela; Richard, Gabriele; Bergman, Reuven; Uitto, Jouni; Kanaan, Moien; Sprecher, Eli.

J Invest Dermatol; 126(4): 777-81, 2006 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-16439963

16.

Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene.

Goez, Helly; Sira, Liat Ben; Jossiphov, Joseph; Borochowitz, Zvi; Durling, Hayley; Laing, Nigel G; Nevo, Yoram.

J Child Neurol; 20(3): 236-9, 2005 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-15832616

17.

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update.

Reish, Orit; Shohat, Mordechai; Magal, Nurit; Pesso, Rachel; Borochowitz, Zvi U; Adir, Vardit; Karpati, Mazal; Shimshoni, Daphne Chapman.

Genet Med; 11(5): 372, 2009 May.

Artículo en Inglés | MEDLINE | ID: mdl-19346956

18.

Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome.

Adir, Vardit; Shahak, Elena; Dar, Hanna; Borochowitz, Zvi U.

Genet Test; 7(4): 345-6, 2003.

Artículo en Inglés | MEDLINE | ID: mdl-15000814

19.

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.

Dagan, Efrat; Cohen, Yoram; Mory, Adi; Adir, Vardit; Borochowitz, Zvi; Raanani, Hila; Kurolap, Alina; Melikhan-Revzin, Svetlana; Meirow, Dror; Gershoni-Baruch, Ruth.

Eur J Hum Genet; 22(2): 277-9, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24281364

20.

Case 2: Developmental delay, especially language, in a toddler.

Shapira, Moshe; Borochowitz, Zvi U.

Paediatr Child Health; 13(9): 775-8, 2008 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-19436541

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