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1.

Noncoding deletions reveal a gene that is critical for intestinal function.

Oz-Levi, Danit; Olender, Tsviya; Bar-Joseph, Ifat; Zhu, Yiwen; Marek-Yagel, Dina; Barozzi, Iros; Osterwalder, Marco; Alkelai, Anna; Ruzzo, Elizabeth K; Han, Yujun; Vos, Erica S M; Reznik-Wolf, Haike; Hartman, Corina; Shamir, Raanan; Weiss, Batia; Shapiro, Rivka; Pode-Shakked, Ben; Tatarskyy, Pavlo; Milgrom, Roni; Schvimer, Michael; Barshack, Iris; Imai, Denise M; Coleman-Derr, Devin; Dickel, Diane E; Nord, Alex S; Afzal, Veena; van Bueren, Kelly Lammerts; Barnes, Ralston M; Black, Brian L; Mayhew, Christopher N; Kuhar, Matthew F; Pitstick, Amy; Tekman, Mehmet; Stanescu, Horia C; Wells, James M; Kleta, Robert; de Laat, Wouter; Goldstein, David B; Pras, Elon; Visel, Axel; Lancet, Doron; Anikster, Yair; Pennacchio, Len A.

Nature ; 571(7763): 107-111, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31217582

2.

Expanded targeted preconception screening panel in Israel: findings and insights.

Reches, Adi; Ofen Glassner, Vered; Goldstein, Nurit; Yeshaya, Josepha; Delmar, Galit; Portugali, Ellie; Hallas, Tova; Weinstein, Amit; Kurolap, Alina; Berkenstadt, Michal; Mantsour, Tal; Abu-Gutstein, Liat; Ries-Levavi, Liat; Reznik-Wolf, Haike; Behar, Doron Moshe; Yaron, Yuval; Pras, Elon; Baris Feldman, Hagit.

J Med Genet ; 2024 May 06.

Artículo en Inglés | MEDLINE | ID: mdl-38719349

3.

Adult-onset Alexander disease among patients of Jewish Syrian descent.

Anis, Saar; Fay-Karmon, Tsvia; Lassman, Simon; Shbat, Fadi; Lesman-Segev, Orit; Mor, Nofar; Barel, Ortal; Dominissini, Dan; Chorin, Odelia; Pras, Elon; Greenbaum, Lior; Hassin-Baer, Sharon.

Neurogenetics ; 24(4): 303-310, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37658208

4.

CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variant.

Kurolap, Alina; Hagin, David; Freund, Tal; Fishman, Sigal; Zunz Henig, Noa; Brazowski, Eli; Yeshaya, Josepha; Naiman, Tova; Pras, Elon; Ablin, Jacob N; Baris Feldman, Hagit.

Hum Genet ; 142(5): 683-690, 2023 May.

Artículo en Inglés | MEDLINE | ID: mdl-35314883

5.

Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.

Domniz, Noam; Levavi, Liat Ries; Berkenstadt, Michal; Pras, Elon; Cohen, Yoram; Raanani, Hila; Goldstein, Dana Brabbing; Yaron, Yuval; Elizur, Shai; Ben-Shachar, Shay.

Genet Med ; 23(6): 1023-1027, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-33473206

6.

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Staretz-Chacham, Orna; Daas, Suha; Ulanovsky, Igor; Blau, Ayala; Rostami, Nira; Saraf-Levy, Talya; Abu Salah, Nasser; Anikster, Yair; Banne, Ehud; Dar, Dalit; Dumin, Elena; Fattal-Valevski, Aviva; Falik-Zaccai, Tzipora; Hershkovitz, Eli; Josefsberg, Sagi; Khammash, Hatem; Keidar, Rimona; Korman, Stanley H; Landau, Yuval; Lerman-Sagie, Tally; Mandel, Dror; Mandel, Hanna; Marom, Ronella; Morag, Iris; Nadir, Erez; Yosha-Orpaz, Naama; Pode-Shakked, Ben; Pras, Elon; Reznik-Wolf, Haike; Saada, Ann; Segel, Reeval; Shaag, Avraham; Shaul Lotan, Nava; Spiegel, Ronen; Tal, Galit; Vaisid, Taly; Zeharia, Avi; Almashanu, Shlomo.

J Inherit Metab Dis ; 44(3): 606-617, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33190319

7.

Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes.

Eyal, Ori; Shinar, Yael; Pras, Mordechai; Pras, Elon.

Hum Mutat ; 41(11): 1866-1870, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-32741030

8.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Brownstein, Zippora; Gulsuner, Suleyman; Walsh, Tom; Martins, Fábio T A; Taiber, Shahar; Isakov, Ofer; Lee, Ming K; Bordeynik-Cohen, Mor; Birkan, Maria; Chang, Weise; Casadei, Silvia; Danial-Farran, Nada; Abu-Rayyan, Amal; Carlson, Ryan; Kamal, Lara; Arnthórsson, Asgeir Ö; Sokolov, Meirav; Gilony, Dror; Lipschitz, Noga; Frydman, Moshe; Davidov, Bella; Macarov, Michal; Sagi, Michal; Vinkler, Chana; Poran, Hana; Sharony, Reuven; Samra, Nadra; Zvi, Na'ama; Baris-Feldman, Hagit; Singer, Amihood; Handzel, Ophir; Hertzano, Ronna; Ali-Naffaa, Doaa; Ruhrman-Shahar, Noa; Madgar, Ory; Sofrin-Drucker, Efrat; Peleg, Amir; Khayat, Morad; Shohat, Mordechai; Basel-Salmon, Lina; Pras, Elon; Lev, Dorit; Wolf, Michael; Steingrimsson, Eirikur; Shomron, Noam; Kelley, Matthew W; Kanaan, Moien N; Allon-Shalev, Stavit; King, Mary-Claire; Avraham, Karen B.

Clin Genet ; 98(4): 353-364, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-33111345

9.

Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.

Greenbaum, Lior; Barel, Ortal; Nikitin, Vera; Hersalis-Eldar, Adi; Kol, Nitzan; Reznik-Wolf, Haike; Dominissini, Dan; Pras, Elon; Dori, Amir.

Muscle Nerve ; 61(3): 395-400, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31837156

10.

Familial Mediterranean fever is associated with increased risk for ischaemic heart disease and mortality-Perspective derived from a large database.

Gendelman, Omer; Shapira, Raz; Tiosano, Shmuel; Pras, Elon; Comaneshter, Doron; Cohen, Arnon; Amital, Howard.

Int J Clin Pract ; 74(5): e13473, 2020 May.

Artículo en Inglés | MEDLINE | ID: mdl-31909853

11.

Chromosomal Microarray Evaluation of Fetal Ventriculomegaly.

Toren, Arik; Alpern, Sharon; Berkenstadt, Michal; Bar-Yosef, Omer; Pras, Elon; Katorza, Eldad.

Isr Med Assoc J ; 22(10): 639-644, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-33070489

12.

A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.

De Boer, Martin; Gavrieli, Ronit; van Leeuwen, Karin; Wolf, Haike Reznik; Dushnitzki, Maya; Bar-Yosef, Yifaat; Bar-Ziv, Anat; Behar, Doron; Lipitz, Shlomo; Miller, Tal Elkan; Tool, Anton T J; Kuijpers, Taco W; van den Berg, Timo K; Wolach, Baruch; Roos, Dirk; Pras, Elon.

J Med Genet ; 55(3): 166-172, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-29331982

13.

SMYD1 is the underlying gene for the AnWj-negative blood group phenotype.

Yahalom, Vered; Pillar, Nir; Zhao, Yingying; Modan, Shirley; Fang, Mingyan; Yosephi, Lydia; Asher, Orna; Shinar, Eilat; Celniker, Gershon; Resnik-Wolf, Haike; Brantz, Yael; Hauschner, Hagit; Rosenberg, Nurit; Cheng, Le; Shomron, Noam; Pras, Elon.

Eur J Haematol ; 101(4): 496-501, 2018 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-29956848

14.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Navon Elkan, Paulina; Pierce, Sarah B; Segel, Reeval; Walsh, Tom; Barash, Judith; Padeh, Shai; Zlotogorski, Abraham; Berkun, Yackov; Press, Joseph J; Mukamel, Masha; Voth, Isabel; Hashkes, Philip J; Harel, Liora; Hoffer, Vered; Ling, Eduard; Yalcinkaya, Fatos; Kasapcopur, Ozgur; Lee, Ming K; Klevit, Rachel E; Renbaum, Paul; Weinberg-Shukron, Ariella; Sener, Elif F; Schormair, Barbara; Zeligson, Sharon; Marek-Yagel, Dina; Strom, Tim M; Shohat, Mordechai; Singer, Amihood; Rubinow, Alan; Pras, Elon; Winkelmann, Juliane; Tekin, Mustafa; Anikster, Yair; King, Mary-Claire; Levy-Lahad, Ephrat.

N Engl J Med ; 370(10): 921-31, 2014 Mar 06.

Artículo en Inglés | MEDLINE | ID: mdl-24552285

15.

A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controls.

Lidar, Merav; Brantz, Yael; Shinar, Yael; Reznik-Wolf, Haike; Livneh, Avi; Ben Zvi, Ilan; Cohen, Rinat; Berkun, Yaakov; Hashkes, Philip J; Peleg, Hagit; Kessel, Aharon; Slobodin, Gleb; Rozenbaum, Michael; Goldzweig, Ofra; Pras, Elon.

Clin Exp Rheumatol ; 35 Suppl 108(6): 82-85, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-29148409

16.

Colorectal and Endometrial Cancer Risk and Age at Diagnosis in BLMAsh Mutation Carriers.

Schayek, Hagit; Laitman, Yael; Katz, Lior H; Pras, Elon; Ries-Levavi, Liat; Barak, Frida; Friedman, Eitan.

Isr Med Assoc J ; 19(6): 365-367, 2017 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-28647934

17.

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

Pras, Eran; Kristal, Dana; Shoshany, Nadav; Volodarsky, Dina; Vulih, Inna; Celniker, Gershon; Isakov, Ofer; Shomron, Noam; Pras, Elon.

J Med Genet ; 52(7): 484-92, 2015 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25986072

18.

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

19.

Fishing for Genes in Autoimmunity.

Regev, Miriam; Pras, Elon.

Isr Med Assoc J ; 18(3-4): 209-11, 2016.

Artículo en Inglés | MEDLINE | ID: mdl-27228645

20.

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Oz-Levi, Danit; Ben-Zeev, Bruria; Ruzzo, Elizabeth K; Hitomi, Yuki; Gelman, Amir; Pelak, Kimberly; Anikster, Yair; Reznik-Wolf, Haike; Bar-Joseph, Ifat; Olender, Tsviya; Alkelai, Anna; Weiss, Meira; Ben-Asher, Edna; Ge, Dongliang; Shianna, Kevin V; Elazar, Zvulun; Goldstein, David B; Pras, Elon; Lancet, Doron.

Am J Hum Genet ; 91(6): 1065-72, 2012 Dec 07.

Artículo en Inglés | MEDLINE | ID: mdl-23176824

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