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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

Year:

1999

Language:

english

File:

PDF, 253 KB

english, 1999

2

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes

Tiosano, D., Audi, L., Climer, S., Zhang, W., Templeton, A. R., Fernandez-Cancio, M., Gershoni-Baruch, R., Sanchez-Muro, J. M., El Kholy, M., Hochberg, Z.

Journal:

G3 Genes|Genome|Genetics

Year:

2016

Language:

english

File:

PDF, 1.28 MB

english, 2016

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

Year:

1996

File:

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:

Year:

1998

Language:

english

File:

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:

Year:

1999

Language:

english

File:

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

Year:

2011

Language:

english

File:

PDF, 197 KB

english, 2011

7

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

Year:

1998

Language:

english

File:

PDF, 529 KB

english, 1998

8

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

Year:

2001

Language:

english

File:

PDF, 170 KB

english, 2001

9

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

Simchoni, S., Friedman, E., Kaufman, B., Gershoni-Baruch, R., Orr-Urtreger, A., Kedar-Barnes, I., Shiri-Sverdlov, R., Dagan, E., Tsabari, S., Shohat, M., Catane, R., King, M.-C., Lahad, A., Levy-Lahad

Journal:

Proceedings of the National Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 455 KB

english, 2006

10

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews

Dagan, E., Schlesinger, I., Ayoub, M., Mory, A., Nassar, M., Kurolap, A., Peretz-Aharon, J., Gershoni-Baruch, R.

Journal:

Parkinsonism & Related Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

11

Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition

GERSHONI-BARUCH, R., ZEKARIA, D.

Journal:

Clinical Dysmorphology

Year:

1996

File:

PDF, 979 KB

1996

12

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

Year:

1996

Language:

english

File:

PDF, 310 KB

english, 1996

13

Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency

Gershoni-Baruch, R., Goldscher, D., Hochberg, Z.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 333 KB

english, 1997

14

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:

Year:

1999

Language:

english

File:

PDF, 141 KB

english, 1999

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

Year:

2001

Language:

english

File:

PDF, 194 KB

english, 2001

16

Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis

R. Jayoussi–Assalia, A. Etzioni, L.D. Notarangelo, R. Brill-Zamir, L. Kasinetz, E Kadouri, R. Gershoni-Baruch

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 55 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

Year:

2001

Language:

english

File:

PDF, 46 KB

english, 2001

18

Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: Possible role in risk modification for cancer development

M. Koren-Michowitz, E. Friedman, R. Gershoni-Baruch, F. Brok-Simoni, Y. Patael, G. Rechavi, N. Amariglio

Journal:

American Journal of Hematology

Year:

2005

Language:

english

File:

PDF, 72 KB

english, 2005

19

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

Year:

2002

Language:

english

File:

PDF, 61 KB

english, 2002

20

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

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

21

Fechtner syndrome: Clinical and genetic aspects

Dr. R. Gershoni-Baruch, Y. Baruch, A. Viener, C. Lichtig, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 791 KB

english, 1988

22

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

Year:

1989

Language:

english

File:

PDF, 451 KB

english, 1989

23

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

Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 463 KB

english, 1990

24

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

Year:

1990

Language:

english

File:

PDF, 590 KB

english, 1990

25

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

Year:

1990

Language:

english

File:

PDF, 602 KB

english, 1990

26

Marfan syndrome associated with bicuspid aortic valve, premature aging, and primary hypogonadism

R. Gershoni-Baruch, E. V. Moor, R. Enat

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 402 KB

english, 1990

27

Roberts syndrome or “X-linked amelia”?

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

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 463 KB

english, 1990

28

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

Year:

1991

Language:

english

File:

PDF, 482 KB

english, 1991

29

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

Year:

1992

Language:

english

File:

PDF, 263 KB

english, 1992

30

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

Year:

1992

Language:

english

File:

PDF, 111 KB

english, 1992

31

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

Year:

1992

Language:

english

File:

PDF, 585 KB

english, 1992

32

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

Year:

1992

Language:

english

File:

PDF, 605 KB

english, 1992

33

Choanal atresia: Evidence for autosomal recessive inheritance

Ruth Gershoni-Baruch

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 260 KB

english, 1992

34

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

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

35

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

Year:

2007

Language:

english

File:

PDF, 161 KB

english, 2007

36

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

Year:

2010

Language:

english

File:

PDF, 357 KB

english, 2010

37

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

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

38

Hereditary breast/ovarian cancer – pitfalls in genetic counseling

E Dagan, R Gershoni-Baruch

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 130 KB

english, 2001

39

Genotyping of Israeli infertile men with idiopathic oligozoospermia

I Madgar, L Green, M Kent-First, R Weissenberg, R Gershoni-Baruch, B Goldman, E Friedman

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 124 KB

english, 2002

40

Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome

M. Bronshtein, R. Gershoni-Baruch

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 310 KB

english, 1993

41

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

Year:

2003

Language:

english

File:

PDF, 53 KB

english, 2003

42

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

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

Journal:

Child's Nervous System

Year:

1991

Language:

english

File:

PDF, 660 KB

english, 1991

43

Autosomal dominant holocalvarial craniosynostosis

Giora Pillar, Menashe Zaaroor, Ruth Gershoni-Baruch

Journal:

Child's Nervous System

Year:

1995

Language:

english

File:

PDF, 845 KB

english, 1995

44

The temporal bone in the Johanson-Blizzard syndrome

J. Braun, A. Lerner, R. Gershoni-Baruch

Journal:

Pediatric Radiology

Year:

1991

Language:

english

File:

PDF, 1.38 MB

english, 1991

45

MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA

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

Journal:

Rheumatology International

Year:

2010

Language:

english

File:

PDF, 217 KB

english, 2010

46

Henoch–Schonlein purpura: polymorphisms in thrombophilia genes

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

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

47

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

Year:

2005

Language:

english

File:

PDF, 248 KB

english, 2005

48

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

Year:

2005

Language:

english

File:

PDF, 218 KB

english, 2005

49

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

Year:

2006

Language:

english

File:

PDF, 193 KB

english, 2006

50

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

Year:

2010

Language:

english

File:

PDF, 212 KB

english, 2010

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