Gershoni, Ruth : rechercher sur Z-Library

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1

Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews

Patael, Yael, Figer, Arie, Gershoni-Baruch, Ruth, Papa, Moshe Z, Risel, Shulamit, Shtoyerman-Chen, Rakefet, Karasik, Avraham, Theodor, Livia, Friedman, Eitan

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 253 KB

english, 1999

2

Girlfriend, boyfriend: Age and sex differences in intimate friendship.

Sharabany, Ruth, Gershoni, Ruth, Hofman, John E.

Journal:

Developmental Psychology

Année:

1981

Langue:

english

Fichier:

PDF, 708 KB

english, 1981

3

Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: A new autosomal recessive disorder

Gershoni-Baruch, Ruth, Leibo, Rina

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 316 KB

1996

4

Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups

Hagar Kalinsky, Adina Funes, Alina Zeldin, Yehuda Pel-Or, Misha Korostishevsky, Ruth Gershoni-Baruch, Lindsay A. Farrer, Batsheva Bonne-Tamir

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 170 KB

english, 1998

5

Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis

Ruth Gershoni-Baruch, Ilana Kepten, Marwan Shinawi, Riva Brik

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 16 KB

english, 1999

6

Germline mutations inBRCA1andBRCA2genes in ethnically diverse high risk families in Israel

Yael Laitman, Roni Tsipora Borsthein, Dominique Stoppa-Lyonnet, Efrat Dagan, Laurent Castera, Maud Goislard, Ruth Gershoni-Baruch, Hadassah Goldberg, Bella Kaufman, Noa Ben-Baruch, Jamal Zidan, Taisee

Journal:

Breast Cancer Research and Treatment

Année:

2011

Langue:

english

Fichier:

PDF, 197 KB

english, 2011

7

The 1100delATBRCA1and the 8765delAGBRCA2Mutations: Occurrence in High-Risk Non-Ashkenazi Jews and Haplotype Comparison of Jewish and Non-Jewish Carriers

Inbar Gal, Ruth Gershoni Baruch, Daniel Haber, Efrat Dagan, Shlomit Eisenberg-Barzilai, Jamal Zidan, Eitan Friedman

Journal:

Familial Cancer

Année:

2004

Langue:

english

Fichier:

PDF, 79 KB

english, 2004

8

Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes

Eitan Friedman, Revital Bar-sade Bruchim, Anna Kruglikova, Shulamit Risel, Ephrat Levy-Lahad, David Halle, Elchanan Bar-On, Ruth Gershoni-Baruch, Ephrat Dagan, Ilana Kepten, Tamar Peretz, Israela Lere

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 529 KB

english, 1998

9

The Tyr978X BRCA1 Mutation in Non-Ashkenazi Jews: Occurrence in High-Risk Families, General Population and Unselected Ovarian Cancer Patients

Shiri-Sverdlov, Ronit, Gershoni-Baruch, Ruth, Ichezkel-Hirsch, Galit, Gotlieb, Walter H., Bruchim Bar-Sade, Revital, Chetrit, Angela, Rizel, Shulamith, Modan, Baruch, Friedman, Eitan

Journal:

Community Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 170 KB

english, 2001

10

Colchicine as a Therapeutic Option in Periodic Fever- Aphthous Stomatitis- Pharyngitis- Cervical Adenitis (PFAPA) Syndrome

Butbul Aviel, Yonatan, Tatour, Sameh, Gershoni Baruch, Ruth, Brik, Riva

Journal:

Seminars in Arthritis and Rheumatism

Année:

2015

Langue:

english

Fichier:

PDF, 437 KB

english, 2015

11

Interstitial deletion (6)q13q15

Gershoni-Baruch, Ruth, Mandel, Hanna, Bar El, Hanna, Bar-Nizan, Noga, Borochowitz, Zvi, Dar, Hanna

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 310 KB

english, 1996

12

Atrichia with papular lesions maps to 8p in the region containing the human hairless gene

Sprecher, Eli, Bergman, Reuven, Szargel, Raymonde, Raz, Tal, Labay, Valentina, Ramon, Michal, Baruch-Gershoni, Ruth, Friedman-Birnbaum, Rachel, Cohen, Nadine

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 865 KB

english, 1998

13

Ovarian dysplasia in prophylactic oophorectomy specimens : Cytogenetic and morphometric correlations

Liane Deligdisch, Joan Gil, Hedviga Kerner, Hai Shan Wu, Dan Beck, Ruth Gershoni-Baruch

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 141 KB

english, 1999

14

Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting

Hava Peretz, Rafael Luboshitsky, Ela Baron, Amnon Biton, Ruth Gershoni, Saly Usher, Elisheva Grynberg, Emanuel Yakobson, Eran Graff, Mordechai Lapidot

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 142 KB

english, 1997

15

Caudal dysplasia sequence with penile enlargement: Case report and a potential pathogenic hypothesis

Imad R. Makhoul, Ayala Aviram-Goldring, Tamar Paperna, Polo Sujov, Shlomit Rienstein, Tatiana Smolkin, Monica Epelman, Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 194 KB

english, 2001

16

Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

Ronit Shiri-Sverdlov, Peter Oefner, Limor Green, Ruth Gershoni Baruch, Teresa Wagner, Anna Kruglikova, Samario Haitchick, Robert M.W. Hofstra, Moshe Z. Papa, Inge Mulder, Shulamit Rizel, Revital Bruch

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 342 KB

english, 2000

17

The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease

Riva Brik, Marwan Shinawi, Leah Kasinetz, Ruth Gershoni-Baruch

Journal:

Arthritis & Rheumatism

Année:

2001

Langue:

english

Fichier:

PDF, 46 KB

english, 2001

18

Familial mediterranean fever: The segregation of four different mutations in 13 individuals from one inbred family: Genotype–phenotype correlation and intrafamilial variability

Ruth Gershoni-Baruch, Marwan Shinawi, Hussein Shamaly, Leah Katsinetz, Riva Brik

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 61 KB

english, 2002

19

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation

Amos Etzioni, Laura Sturla, Anthony Antonellis, Eric D. Green, Ruth Gershoni-Baruch, Patricia M. Berninsone, Carlos B. Hirschberg, Michela Tonetti

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 176 KB

english, 2002

20

Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia

Dr. Ruth Gershoni-Baruch, Emanuel Gottfried, Menucha Pery, Abdala Sahin, Amos Etzioni

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 451 KB

english, 1989

21

Carpenter syndrome: Marked variability of expression to include the summitt and Goodman syndromes

Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 463 KB

english, 1990

22

Johanson-Blizzard syndrome: Clinical spectrum and further delineation of the syndrome

Ruth Gershoni-Baruch, Aaron Lerner, Jacob Braun, Yossef Katzir, Theodore C. Iancu, Avraham Benderly

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 590 KB

english, 1990

23

Walker-warburg syndrome with microtia and absent auditory canals

Dr. Ruth Gershoni-Baruch, Hanna Mandel, Benjamin Miller, Polo Sujov, Jacob Braun

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 602 KB

english, 1990

24

Roberts syndrome or “X-linked amelia”?

Ruth Gershoni-Baruch, Arie Drugan, Moshe Bronshtein, Etan Z. Zimmer

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 463 KB

english, 1990

25

Cerebro-oculo-facio-skeletal syndrome: Further delineation

Ruth Gershoni-Baruch, Ruth M. Ludatscher, Chaim Lichtig, Polo Sujov, Imad Machoul

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 482 KB

english, 1991

26

Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents

Tal Nachlieli, Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 263 KB

english, 1992

27

Response to Rodríguez et al. regarding tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome?

Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 111 KB

english, 1992

28

Rambam–Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and bombay phenotype

Dr. Moshe Frydman, Amos Etzioni, Tal Eidlitz-Markus, Israela Avidor, Itzhak Varsano, Yael Shechter, Jerome B. Orlin, Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 585 KB

english, 1992

29

Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome

Dr. Ruth Gershoni-Baruch, Tal Nachlieli, Rina Leibo, Shimon Degani, Irith Weissman

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 605 KB

english, 1992

30

Choanal atresia: Evidence for autosomal recessive inheritance

Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 260 KB

english, 1992

31

Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

Motti Haimi, Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 105 KB

english, 2005

32

Anophthalmia-plus syndrome: A clinical report and review of the literature

Imad R. Makhoul, Michalle Soudack, Orna Kochavi, Joseph N. Guilburd, Shimon Maimon, Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 161 KB

english, 2007

33

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Tzipora C. Falik-Zaccai, Morad Khayat, Anthony Luder, Pnina Frenkel, Daniella Magen, Riva Brik, Ruth Gershoni-Baruch, Hanna Mandel

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 357 KB

english, 2010

34

The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever

Ruth Gershoni-Baruch, Riva Brik, Nurit Zacks, Maruan Shinawi, Merav Lidar, Avi Livneh

Journal:

Arthritis & Rheumatism

Année:

2003

Langue:

english

Fichier:

PDF, 89 KB

english, 2003

35

CHEK2*1100delC and male breast cancer risk in Israel

Tal Ohayon, Inbar Gal, Ruth Gershoni Baruch, Csilla Szabo, Eitan Friedman

Journal:

International Journal of Cancer

Année:

2004

Langue:

english

Fichier:

PDF, 49 KB

english, 2004

36

Smoking and the risk of breast cancer among carriers of BRCA mutations

Parviz Ghadirian, Jan Lubinski, Henry Lynch, Susan L. Neuhausen, Barbara Weber, Claudine Isaacs, Ruth-Gershoni Baruch, Susan Randall, Peter Ainsworth, Eitan Freidman, Douglas Horsman, Patricia Tonin,

Journal:

International Journal of Cancer

Année:

2004

Langue:

english

Fichier:

PDF, 68 KB

english, 2004

37

Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update

Jacek Gronwald, Nadine Tung, William D. Foulkes, Kenneth Offit, Ruth Gershoni, Mary Daly, Charmaine Kim-Sing, Hakan Olsson, Peter Ainsworth, Andrea Eisen, Howard Saal, Eitan Friedman, Olufunmilayo Olo

Journal:

International Journal of Cancer

Année:

2006

Langue:

english

Fichier:

PDF, 77 KB

english, 2006

38

Pulmonary manifestations and function tests in children genetically diagnosed with FMF

Riva Brik, Ruth Gershoni-Baruch, Marwan Shinawi, Larissa Barak, Lea Bentur

Journal:

Pediatric Pulmonology

Année:

2003

Langue:

english

Fichier:

PDF, 53 KB

english, 2003

39

Apert's syndrome with occipital encephalocele and absence of corpus callosum

Ruth Gershoni-Baruch, Tal Nachlieli, Joseph N. Guilburd

Journal:

Child's Nervous System

Année:

1991

Langue:

english

Fichier:

PDF, 660 KB

english, 1991

40

Autosomal dominant holocalvarial craniosynostosis

Giora Pillar, Menashe Zaaroor, Ruth Gershoni-Baruch

Journal:

Child's Nervous System

Année:

1995

Langue:

english

Fichier:

PDF, 845 KB

english, 1995

41

MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA

Efrat Dagan, Ruth Gershoni-Baruch, Ihab Khatib, Adi Mori, Riva Brik

Journal:

Rheumatology International

Année:

2010

Langue:

english

Fichier:

PDF, 217 KB

english, 2010

42

Henoch–Schonlein purpura: polymorphisms in thrombophilia genes

Efrat Dagan, Riva Brik, Yiphtah Broza, Ruth Gershoni-Baruch

Journal:

Pediatric Nephrology

Année:

2006

Langue:

english

Fichier:

PDF, 94 KB

english, 2006

43

Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990–2000

Eliahu G. Stoupel, Helena Frimer, Zvi Appelman, Ziva Ben-Neriah, Hanna Dar, Moshe D. Fejgin, Ruth Gershoni-Baruch, Esther Manor, Gad Barkai, Stavit Shalev, Zully Gelman-Kohan, Orit Reish, Dorit Lev, B

Journal:

International Journal of Biometeorology

Année:

2005

Langue:

english

Fichier:

PDF, 248 KB

english, 2005

44

Age at menarche and the risk of breast cancer inBRCA1andBRCA2mutation carriers

Joanne Kotsopoulos, Jan Lubinski, Henry T. Lynch, Susan L. Neuhausen, Parviz Ghadirian, Claudine Isaacs, Barbara Weber, Charmaine Kim-Sing, William D. Foulkes, Ruth Gershoni-Baruch, Peter Ainsworth, E

Journal:

Cancer Causes & Control

Année:

2005

Langue:

english

Fichier:

PDF, 218 KB

english, 2005

45

The Tyr978XBRCA1mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews

Lluís Quintana-Murci, Inbar Gal, Tangiz Bakhan, Hélène Quach, S Hamid Sayar, Ronit Shiri-Sverdlov, Ruth Gershoni Baruch, Ken McElreavey, Efrat Dagan, Steven Narod, Eitan Friedman

Journal:

Familial Cancer

Année:

2005

Langue:

english

Fichier:

PDF, 187 KB

english, 2005

46

The 471delAAAG Mutation and C353T Polymorphism in theRNASELGene in Sporadic and Inherited Cancer in Israel

Efrat Dagan, Yael Laitman, Nurit Levanon, Avner Feuer, Ami A. Sidi, Jack Baniel, Yaacov Korach, Gilad Ben Baruch, Eitan Friedman, Ruth Gershoni-Baruch

Journal:

Familial Cancer

Année:

2006

Langue:

english

Fichier:

PDF, 193 KB

english, 2006

47

Leukocyte Adhesion Deficiency Type II: Long-Term Follow-Up and Review of the Literature

Yael Gazit, Adi Mory, Amos Etzioni, Moshe Frydman, Oded Scheuerman, Ruth Gershoni-Baruch, Ben-Zion Garty

Journal:

Journal of Clinical Immunology

Année:

2010

Langue:

english

Fichier:

PDF, 212 KB

english, 2010

48

10.1038/81563

Van Hul, Wim, Janssens, Katrien, Gershoni-Baruch, Ruth, Guañabens, Nuria, Migone, Nicola, Ralston, Stuart, Bonduelle, Maryse, Lissens, Willy, Van Maldergem, Lionel, Vanhoenacker, Filip, Verbruggen, Le

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 293 KB

english, 2000

49

BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer

Gershoni-Baruch, Ruth, Dagan, Efrat, Fried, Getta, Kepten, Ilana, Robinson, Eliezer

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 134 KB

english, 1999

50

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23

Bomont, Pascale, Watanabe, Mitsunory, Gershoni-Barush, Ruth, Shizuka, Masami, Tanaka, Makoto, Sugano, Jinpei, Guiraud-Chaumeil, Christophe, Koenig, Michel

Journal:

European Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 150 KB

english, 2000