Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Solanum pennellii (LA5240) backcross inbred lines (BILs) for high resolution mapping in tomato.

Torgeman, Shai; Pleban, Tzili; Goldberg, Yael; Ferrante, Paola; Aprea, Giuseppe; Giuliano, Giovanni; Yichie, Yoav; Fisher, Josef; Zemach, Itay; Koch, Amit; Rochsar, Edan; Oved, Matan; Bandel, Kfir; Zamir, Dani.

Plant J ; 2024 Apr 04.

Artigo em Inglês | MEDLINE | ID: mdl-38576107

2.

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles, Claire; West, Hannah D; Chew, Edward; Galavotti, Sara; Flensburg, Christoffer; Grolleman, Judith E; Jansen, Erik A M; Curley, Helen; Chegwidden, Laura; Arbe-Barnes, Edward H; Lander, Nicola; Truscott, Rebekah; Pagan, Judith; Bajel, Ashish; Sherwood, Kitty; Martin, Lynn; Thomas, Huw; Georgiou, Demetra; Fostira, Florentia; Goldberg, Yael; Adams, David J; van der Biezen, Simone A M; Christie, Michael; Clendenning, Mark; Thomas, Laura E; Deltas, Constantinos; Dimovski, Aleksandar J; Dymerska, Dagmara; Lubinski, Jan; Mahmood, Khalid; van der Post, Rachel S; Sanders, Mathijs; Weitz, Jürgen; Taylor, Jenny C; Turnbull, Clare; Vreede, Lilian; van Wezel, Tom; Whalley, Celina; Arnedo-Pac, Claudia; Caravagna, Giulio; Cross, William; Chubb, Daniel; Frangou, Anna; Gruber, Andreas J; Kinnersley, Ben; Noyvert, Boris; Church, David; Graham, Trevor; Houlston, Richard; Lopez-Bigas, Nuria.

Am J Hum Genet ; 109(5): 953-960, 2022 05 05.

Artigo em Inglês | MEDLINE | ID: mdl-35460607

3.

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.

Deitch, Iris; Itskov, Sofia; Panneman, Daan; Abu Shtaya, Aasem; Saban, Tal; Goldberg, Yael; Ehrenberg, Miriam; Cremers, Frans P M; Roosing, Susanne; Ben-Yosef, Tamar.

Curr Issues Mol Biol ; 46(3): 2566-2575, 2024 Mar 18.

Artigo em Inglês | MEDLINE | ID: mdl-38534779

4.

The benefit of pancreatic cancer surveillance in carriers of germline BRCA1/2 pathogenic variants.

Laish, Ido; Schechter, Menachem; Dancour, Alain; Lieberman, Sari; Levi, Zohar; Goldberg, Yael; Kedar, Inbal; Hasnis, Erez; Half, Elizabeth; Levi, Gili Reznick; Katz, Lior; Vainer, Elez D; Genzel, Dor; Aharoni, Maya; Chen-Shtoyerman, Rakefet; Abu-Freha, Naim; Raitses-Gurevich, Maria; Golan, Talia; Bernstein-Molho, Rinat; Ben Yehoyada, Merav; Gluck, Nathan; Rosner, Guy.

Cancer ; 130(2): 256-266, 2024 01.

Artigo em Inglês | MEDLINE | ID: mdl-37861363

5.

BRCA1/2 mutation carriers vs the general breast cancer population (N = 799,986): 21-gene assay-based molecular characterization.

Yerushalmi, Rinat; Pomerantz, Adi; Lewin, Ron; Paluch-Shimon, Shani; Soussan-Gutman, Lior; Baehner, Frederick L; Voet, Hillary; Bareket-Samish, Avital; Kedar, Inbal; Goldberg, Yael; Peretz-Yablonski, Tamar; Kadouri, Luna.

Breast Cancer Res Treat ; 2024 Apr 03.

Artigo em Inglês | MEDLINE | ID: mdl-38568368

6.

Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis.

Ben-Zion Berliner, Matan; Yust-Katz, Shlomit; Lavie, Inbar; Goldberg, Yael; Kedar, Inbal; Yerushalmi, Rinat.

BMC Cancer ; 24(1): 219, 2024 Feb 16.

Artigo em Inglês | MEDLINE | ID: mdl-38365640

7.

Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.

Daum, Hagit; Segel, Reeval; Meiner, Vardiella; Goldberg, Yael; Zeligson, Sharon; Weiss, Omri; Stern, Shira; Frumkin, Ayala; Zenvirt, Shamir; Ganz, Gael; Shkedi-Rafid, Shiri.

J Med Genet ; 60(1): 99-105, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-35264407

8.

Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.

Abu Shtaya, Aasem; Sukenik-Halevy, Rivka; Bazak, Lily; Lidzbarsky, Gabriel Arie; Gonzaga-Jauregui, Claudia; Lagovsky, Irina; Goldberg, Yael; Basel-Salmon, Lina.

Clin Genet ; 104(2): 275-276, 2023 08.

Artigo em Inglês | MEDLINE | ID: mdl-37096293

9.

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.

Aronson, Melyssa; Colas, Chrystelle; Shuen, Andrew; Hampel, Heather; Foulkes, William D; Baris Feldman, Hagit; Goldberg, Yael; Muleris, Martine; Wolfe Schneider, Kami; McGee, Rose B; Jasperson, Kory; Rangaswami, Arun; Brugieres, Laurence; Tabori, Uri.

J Med Genet ; 59(4): 318-327, 2022 04.

Artigo em Inglês | MEDLINE | ID: mdl-33622763

10.

[INHERITED COLORECTAL CANCER - UPDATED REVIEW].

Abu Shtaya, Aasem; Goldberg, Yael.

Harefuah ; 162(6): 393-400, 2023 Jun.

Artigo em Hebraico | MEDLINE | ID: mdl-37394444

11.

[GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN].

Michaelson-Cohen, Rachel; Laitman, Yael; Kedar, Inbal; Baris-Feldman, Hagit; Reish, Orit; Lieberman, Sari; Bernstein-Molho, Rinat; Goldberg, Yael; Reznick Levi, Gili; Gershoni, Ruth; Beller, Uzi; Levy-Lahad, Ephrat; Catan, Raphael; Friedman, Eitan.

Harefuah ; 162(6): 370-375, 2023 Jun.

Artigo em Hebraico | MEDLINE | ID: mdl-37394440

12.

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

Orenstein, Naama; Gofin, Yoel; Shomron, Noam; Ruhrman-Shahar, Noa; Magal, Nurit; Hagari, Ofir; Azulay, Noy; Bazak, Lily; Goldberg, Yael; Basel-Salmon, Lina.

Clin Genet ; 101(2): 265-266, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34786696

13.

Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.

Michaeli, Orli; Ladany, Hagay; Erez, Ayelet; Ben Shachar, Shay; Izraeli, Shai; Lidzbarsky, Gabriel; Basel-Salmon, Lina; Biskup, Saskia; Maruvka, Yosef E; Toledano, Helen; Goldberg, Yael.

Clin Genet ; 101(4): 442-447, 2022 04.

Artigo em Inglês | MEDLINE | ID: mdl-34967012

14.

Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.

Michelson, Marina; Lidzbarsky, Gabriel; Nishri, Daniella; Israel-Elgali, Ifat; Berger, Rachel; Gafner, Michal; Shomron, Noam; Lev, Dorit; Goldberg, Yael.

Am J Med Genet A ; 188(7): 1990-1996, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35312147

15.

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.

Vaknin, Noam; Azoulay, Noy; Tsur, Erez; Tripolszki, Kornelia; Urzi, Alice; Rolfs, Arndt; Bauer, Peter; Achiron, Reuven; Lipitz, Shlomo; Goldberg, Yael; Berger, Rachel; Shohat, Mordechai.

Prenat Diagn ; 42(6): 725-735, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-34918830

16.

Characterization of splice-altering mutations in inherited predisposition to cancer.

Casadei, Silvia; Gulsuner, Suleyman; Shirts, Brian H; Mandell, Jessica B; Kortbawi, Hannah M; Norquist, Barbara S; Swisher, Elizabeth M; Lee, Ming K; Goldberg, Yael; O'Connor, Robert; Tan, Zheng; Pritchard, Colin C; King, Mary-Claire; Walsh, Tom.

Proc Natl Acad Sci U S A ; 116(52): 26798-26807, 2019 Dec 26.

Artigo em Inglês | MEDLINE | ID: mdl-31843900

17.

Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.

Katz, Lior Haim; Gingold-Belfer, Rachel; Vainer, Elez; Hegger, Shani; Laish, Ido; Derazne, Estela; Weintraub, Ilana; Reznick-Levi, Gili; Goldberg, Yael; Levi, Zohar; Cohen, Shlomi; Half, Elizabeth E.

Hered Cancer Clin Pract ; 20(1): 2, 2022 Jan 20.

Artigo em Inglês | MEDLINE | ID: mdl-35057835

18.

[TEAM SKILLS IN DELIVERY ROOM'S EMERGENCIES - PROMPT (PRACTICAL OBSTETRICS MULTI PROFESSIONAL TRAINING)].

Goldberg, Yael; Shahaf, Poria; Zahran-Khoury, Hazar; Reuveni, Amit; Leder, Anat; Lavie, Ofer; Kedar, Reuven.

Harefuah ; 161(3): 183-187, 2022 Mar.

Artigo em Hebraico | MEDLINE | ID: mdl-36259405

19.

Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Goldberg, Yael; Laitman, Yael; Ben David, Merav; Bazak, Lily; Lidzbarsky, Gabriel; Salmon, Lina B; Shkedi-Rafid, Shiri; Barshack, Iris; Avivi, Camila; Darawshe, Malak; Shomron, Noam; Bruchim, Revital; Vinkler, Chana; Yannoukakos, Drakoulis; Fostira, Florentia; Bernstein-Molho, Rinat; Friedman, Eitan.

Hum Mutat ; 42(5): 592-599, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-33600035

20.

Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.

Laish, Ido; Friedman, Eitan; Levi-Reznick, Gili; Kedar, Inbal; Katz, Lior; Levi, Zohar; Halpern, Naama; Parnasa, Shani; Abu-Shatya, Aasem; Half, Elizabeth; Goldberg, Yael.

Breast Cancer Res Treat ; 188(3): 685-694, 2021 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-34086170

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