R. Gershoni-Baruch: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2)

N. Shehadeh, D. Bakri, P. R. Njølstad, R. Gershoni-Baruch

Journal:

Diabetic Medicine

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

13

A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema

Melikhan-Revzin, Svetlana, Kurolap, Alina, Dagan, Efrat, Mory, Adi, Gershoni-Baruch, Ruth

Journal:

Lymphatic Research and Biology

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

14

JOHANSON-BLIZZARD SYNDROME IS CAUSED BY MUTATIONS IN UBR1, ENCODING AN E3 UBIQUITIN LIGASE OF THE N-END RULE PATHWAY

Mayerle, J, Zenker, M, Lerch, M M, Tagariello, A, Zerres, K, Durie, P R, H??lskamp, G, Guzman, C, Rehder, H, Beemer, F A, Hamel, B, Vanlieferinghen, P, Gershoni-Baruch, R, Vieira, M W, Kwon, Y T, Vars

Journal:

Year:

2005

Language:

english

File:

PDF, 656 KB

english, 2005

15

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

16

Dopa reaction of fetal melanocytes before and after skin transplantation on to nude mice

A. GILHAR, R. GERSHONI-BARUCH, A. MARGOLIS, A. BENDERLY, J.M. BRANDES

Journal:

British Journal of Dermatology

Year:

1995

Language:

english

File:

PDF, 2.24 MB

english, 1995

17

Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, Yardena Tenenbaum-Rakover, Janine Wagenstaller, Dov Tiosano, Ruth Gershoni-Baruch, Norbert Albers, Peter Lichtner, Dirk Schnabel, Ze'ev Ho

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 608 KB

english, 2006

18

Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study

Susan L. Neuhausen, Andrew K. Godwin, Ruth Gershoni-Baruch, Elizabeth Schubert, Judy Garber, Dominique Stoppa-Lyonnet, Edith Olah, Bela Csokay, Olga Serova, Fiona Lalloo, Ana Osorio, Michael Stratton,

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 107 KB

english, 1998

19

Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Mory, Adi, Dagan, Efrat, Shahor, Ishai, Mandel, Hanna, Illi, Barbara, Zolotushko, Jenny, Kurolap, Alina, Chechik, Emilia, Valente, Enza M., Amselem, Serge, Gershoni-Baruch, Ruth

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 349 KB

english, 2014

20

Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst

Gershoni-Baruch, R, Machoul, I, Weiss, Y, Blazer, S

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 479 KB

english, 1990

21

Detection of transplanted liver cells to the spleen by semiquantitative analysis using PCR for the Sry region on the Y chromosome

E Veitzman, L Shenkar, G Shoshany, L Kasinetz, R Gershoni-Baruch, R Brill Zamir, Y Baruch

Journal:

Transplantation Proceedings

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

22

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever

Gershoni-Baruch, Ruth, Brik, Riva, Shinawi, Marwan, Livneh, Avi

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 87 KB

english, 2002

23

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

24

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

25

Expression of cell cycle regulatory proteins in ovaries prophylactically removed from Jewish Ashkenazi BRCA1 and BRCA2 mutation carriers: Correlation with histopathology

Ram Kerner, Edmond Sabo, Ruth Gershoni-Baruch, Dan Beck, Ofer Ben-Izhak

Journal:

Gynecologic Oncology

Year:

2005

Language:

english

File:

PDF, 486 KB

english, 2005

26

BRCA1/2 mutations are not associated with FMR1 genotypes, nor with assisted reproductive performance

Cohen, Y., Raanani, H., Feldman, B., Dagan, E., Meirow, D., Gershoni-Baruch, R.

Journal:

Fertility and Sterility

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

27

Tel Hashomer camptodactyly syndrome in identical twin infants

Smolkin, Tatiana, Blazer, Shraga, Gershoni-Baruch, Ruth, Makhoul, Imad R.

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 108 KB

english, 2011

28

Previously Apparently Undescribed Autosomal-Recessive Multiple Congenital Anomalies/ Mental Retardation (MCA/MR) Syndrome Comprising: Fronto-Nasal Dysplasia, Hypertelorism, Short Stature and Brachydactily

Haimi, Motti, Gershoni-Baruch, Ruth

Journal:

Current Pediatric Reviews

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

29

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

30

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

31

Age at Menarche and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation 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, 1.39 MB

english, 2005

32

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

33

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

34

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred

Mory, Adi, Ruiz, Francesc X, Dagan, Efrat, Yakovtseva, Evgenia A, Kurolap, Alina, Parés, Xavier, Farrés, Jaume, Gershoni-Baruch, Ruth

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 716 KB

english, 2014

35

Camurati-Engelmann Disease: Review of radioclinical features

Vanhoenacker, F. M., Janssens, K., Van Hul, W., Gershoni-Baruch, R., Brik, R., De Schepper, A. M.

Journal:

Acta Radiologica

Year:

2003

Language:

english

File:

PDF, 459 KB

english, 2003

36

Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.

Keidar, S, Etzioni, A, Brook, J G, Gershoni-Baruch, R, Aviram, M

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 283 KB

english, 1990

37

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

38

‘Pure’ partial trisomy 11q (11q23.1→11qter)

Zimberg-Bossira, Avishag, Smolkin, Tatiana, Gildish, Anna, Moustafa-Hawash, Nivin, Blazer, Shraga, Gershoni-Baruch, Ruth, Makhoul, Imad R.

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 150 KB

english, 2011

39

Markedly Elevated Alpha-Fetoprotein and Positive Acetylcholinesterase in Amniotic Fluid from a Pregnancy Affected with Dystrophic Epidermolysis bullosa

Drugan, A., Vadas, A., Sujov, P., Gershoni-Baruch, R.

Journal:

Fetal Diagnosis and Therapy

Year:

1995

Language:

english

File:

PDF, 477 KB

english, 1995

40

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

41

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

42

Cisplatin Treatment Triggers Familial Mediterranean Fever Attacks

Toubi, Elias, Gershoni-Baruch, Ruth, Kuten, Abraham

Journal:

Year:

2003

File:

PDF, 445 KB

2003

43

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

44

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

Year:

1999

Language:

english

File:

PDF, 134 KB

english, 1999

45

Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease

Karban, A, Dagan, E, Eliakim, R, Herman, A, Nesher, S, Weiss, B, Berkowitz, D, Shamir, R, Gershoni-Baruch, R

Journal:

Genes and Immunity

Year:

2004

Language:

english

File:

PDF, 104 KB

english, 2004

46

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skoreck

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 624 KB

english, 2008

47

The R72P P53 mutation is associated with familial breast cancer in Jewish women

Ohayon, T, Gershoni-Baruch, R, Papa, M Z, Distelman Menachem, T, Eisenberg Barzilai, S, Friedman, E

Journal:

British Journal of Cancer

Year:

2005

Language:

english

File:

PDF, 91 KB

english, 2005

48

Absence of - and -dystroglycan is associated with Walker-Warburg syndrome

Riemersma, M., Mandel, H., van Beusekom, E., Gazzoli, I., Roscioli, T., Eran, A., Gershoni-Baruch, R., Gershoni, M., Pietrokovski, S., Vissers, L. E., Lefeber, D. J., Willemsen, M. A., Wevers, R. A.,

Journal:

Year:

2015

Language:

english

File:

PDF, 446 KB

english, 2015

49

Anticipation in hereditary breast cancer

Dagan, E, Gershoni-Baruch, R

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 43 KB

english, 2002

50

Hereditary Microphthalmia With Colobomatous Cyst

Porges, Yair, Gershoni-Baruch, Ruth, Leibu, Rina, Goldscher, Dorith, Zonis, Shlomo, Shapira, Israel, Miller, Benjamin

Journal:

American Journal of Ophthalmology

Year:

1992

Language:

english

File:

PDF, 1.09 MB

english, 1992

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