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1

PGD on a recombinant allele: crossover between the TSC2 gene and ‘linked’ markers impairs accurate diagnosis

Gheona Altarescu, Talia Eldar Geva, Barry Brooks, Ehud Margalioth, Ephrat Levy-Lahad, Paul Renbaum

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 234 KB

english, 2008

2

High Frequency of BRCA1 and BRCA2 Germline Mutations in Ashkenazi Jewish Ovarian Cancer Patients, Regardless of Family History

Uziel Beller, David Halle, Raphael Catane, Bella Kaufman, Gila Hornreich, Ephrat Levy-Lahad

Journal:

Gynecologic Oncology

Year:

1997

Language:

english

File:

PDF, 61 KB

english, 1997

3

Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

Michael Kaplan, Cathy Hammerman, Paul Renbaum, Gaya Klein, Ephrat Levy-Lahad

Journal:

Year:

2000

Language:

english

File:

PDF, 59 KB

english, 2000

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

Off the street phasing (OTSP): free no hassle haplotype phasing for molecular PGD applications

Altarescu, Gheona, Zahdeh, Fouad, Kling, Yehuda, Renbaum, Paul, Levy-Lahad, Ephrat, Carmi, Shai, Zeevi, David A.

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 54 KB

english, 2018

7

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion

Auerbach, Adi, Cohen, Amitay, Ofek Shlomai, Noa, Weinberg-Shukron, Ariella, Gulsuner, Suleyman, King, Mary-Claire, Hemi, Rina, Levy-Lahad, Ephrat, Abulibdeh, Abdulsalam, Zangen, David

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2020

File:

PDF, 794 KB

2020

8

BRCA1 and BRCA2 mutation carriers as potential candidates for chemoprevention trials

Ephrat Levy-Lahad, Michal Krieger, Orit Gottfeld, Paul Renbaum, Gaya Klein, Shlomit Eisenberg, Amnon Lahad, Bella Kaufman, Raphael Catane

Journal:

Journal of Cellular Biochemistry

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

9

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Sea

Journal:

Year:

1998

Language:

english

File:

PDF, 302 KB

english, 1998

10

Incidence of thrombophilia in patients with Gaucher disease

D. Elstein, P. Renbaum, E. Levy-Lahad, A. Zimran

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 71 KB

english, 2000

11

Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

Valérie Delague, Eliane Chouery, Sandra Corbani, Ismat Ghanem, Suhail Aamar, Judith Fischer, Ephrat Levy-Lahad, J. Andoni Urtizberea, André Mégarbané

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 299 KB

english, 2005

12

Pulmonary hypoplasia–diaphragmatic hernia–anophthalmia–cardiac defect (PDAC) syndrome due to STRA6 mutations—What are the minimal criteria?

Reeval Segel, Ephrat Levy-Lahad, Francesca Pasutto, Elie Picard, Anita Rauch, Gheona Alterescu, Michael S. Schimmel

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 175 KB

english, 2009

13

Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

Orit Reish, Céline Huber, Gheona Altarescu, Daphne Chapman-Shimshoni, Ephrat Levy-Lahad, Paul Renbaum, Maya Mashevich, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 232 KB

english, 2010

14

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

Orit Reish, Céline Huber, Gheona Altarescu, Daphne Chapman-Shimshoni, Ephrat Levy-Lahad, Paul Renbaum, Maya Mashevich, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

15

Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel

Sari Lieberman, Shachar Zuckerman, Ephrat Levy-Lahad, Gheona Altarescu

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 123 KB

english, 2011

16

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

Ziva Ben-Neriah, Rachel Michaelson-Cohen, Michal Inbar-Feigenberg, Michael Nadjari, Sharon Zeligson, Avraham Shaag, Shamir Zenvirt, Orly Elpeleg, Ephrat Levy-Lahad

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 311 KB

english, 2011

17

Apolipoprotein E genotypes and age of onset in early-onset familial Alzheimer's disease

Ephrat Levy-Lahad, Amnon Lahad, Ellen M. Wijsman, Thomas D. Bird, Dr Gerard D. Schellenberg

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 339 KB

english, 1995

18

Genetic factors in Alzheimer's disease: A review of recent advances

Ephrat Levy-Lahad, Dr. Thomas D. Bird

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 1.27 MB

english, 1996

19

Wide range in age of onset for chromosome 1-related familial Alzheimer's disease

Thomas D. Bird, Ephrat Levy-Lahad, Parvoneh Poorkaj, Vikram Sharma, Ellen Nemens, Amnon Lahad, Thomas H. Lampe, Gerard D. Schellenberg

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 524 KB

english, 1996

20

Amyloid (Aβ) deposition in chromosome 1–linked Alzheimer's disease: The volga german families

Dr D. M. A. Mann, T. Iwatsubo, D. Nochlin, S. M. Sumi, E. Levy-Lahad, T. D. Bird

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 662 KB

english, 1997

21

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

P. Renbaum, B. Brooks, Y. Kaplan, T. Eldar-Geva, E J. Margalioth, E. Levy-Lahad, G. Altarescu

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 163 KB

english, 2007

22

Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line

Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Baruch Brooks, Irit Varshaver, Mical Avitzour, Ehud J. Margalioth, Ephrat Levy-Lahad, Deborah Elstein, Silvina Epsztejn-Litman, Rachel Eiges

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 149 KB

english, 2011

23

Reversible functional asplenia and subcapsular liver hematoma — Two distinctive manifestations of amyloidosis

E. Levy-Lahad, D. Steiner-Salz, N. Berkman, R. Chisin, P. Levensart, E. Leitersdorf

Journal:

Journal of Molecular Medicine

Year:

1987

Language:

english

File:

PDF, 929 KB

english, 1987

24

Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations

P. Renbaum, E. Levy-Lahad

Journal:

Cellular and Molecular Life Sciences

Year:

1998

Language:

english

File:

PDF, 178 KB

english, 1998

25

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy

Gheona Altarescu, Talia Eldar-Geva, Baruch Brooks, Edith Zylber-Haran, Irit Varshaver, Ehud J. Margalioth, Ephrat Levy-Lahad, Paul Renbaum

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009

26

Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis

Gheona Altarescu, Orit Reish, Paul Renbaum, Ester Kasterstein, Dvorah Komarovsky, Alisa Komsky, Orna Bern, Dvorah Strassburger, Ephrat Levy-Lahad, Raphael Ron-El

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2011

Language:

english

File:

PDF, 278 KB

english, 2011

27

Attitudes of couples identified through screening as carriers of Gaucher disease type 1

S Zuckerman, A Lahad, A Zimran, E Levy-Lahad, M Sagi

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

28

10.1038/83707

Wildin, Robert S., Ramsdell, Fred, Peake, Jane, Faravelli, Francesca, Casanova, Jean-Laurent, Buist, Neil, Levy-Lahad, Ephrat, Mazzella, Massimo, Goulet, Olivier, Perroni, Lucia, Dagna Bricarelli, Fra

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 146 KB

english, 2001

29

Fanconi anemia and breast cancer susceptibility meet again

Levy-Lahad, Ephrat

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 1.28 MB

english, 2010

30

Collaborative genomics for human health and cooperation in the Mediterranean region

Özçelik, Tayfun, Kanaan, Moien, Avraham, Karen B, Yannoukakos, Drakoulis, Mégarbané, André, Tadmouri, Ghazi O, Middleton, Lefkos, Romeo, Giovanni, King, Mary-Claire, Levy-Lahad, Ephrat

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 144 KB

english, 2010

31

Preimplantation genetic diagnosis (PGD) – prevention of the birth of children affected with endocrine diseases

Altarescu, Gheona, Barenholz, Orit, Renbaum, Paul, Beeri, Rachel, Levy-Lahad, Ephrat, Margalioth, Ehud J., Brooks, Baruch, Varshaver, Irit, Eldar-Geva, Talia

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2011

Language:

english

File:

PDF, 375 KB

english, 2011

32

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

Yakobson, Emanuel, Eisenberg, Shlomit, Isacson, Ruth, Halle, David, Levy-Lahad, Efrat, Catane, Raphael, Safro, Mark, Sobolev, Vladimir, Huot, Thomas, Peters, Gordon

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 248 KB

english, 2003

33

Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism

Michael Kaplan, Cathy Hammerman, Firmino F. Rubaltelli, Maria T. Vilei, Ephrat Levy-Lahad, Paul Renbaum, Hendrik J. Vreman, David K. Stevenson, Maurizio Muraca

Journal:

Year:

2002

Language:

english

File:

PDF, 115 KB

english, 2002

34

Is Uterine Serous Papillary Carcinoma a BRCA1-Related Disease? Case Report and Review of the Literature

Gila Hornreich, Uziel Beller, Ofer Lavie, Paul Renbaum, Yoram Cohen, Ephrat Levy-Lahad

Journal:

Gynecologic Oncology

Year:

1999

Language:

english

File:

PDF, 39 KB

english, 1999

35

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

Paul Renbaum, Efrat Kellerman, Ranit Jaron, Dan Geiger, Reeval Segel, Ming Lee, Mary Claire King, Ephrat Levy-Lahad

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.36 MB

english, 2009

36

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Sarah B. Pierce, Tom Walsh, Karen M. Chisholm, Ming K. Lee, Anne M. Thornton, Agata Fiumara, John M. Opitz, Ephrat Levy-Lahad, Rachel E. Klevit, Mary-Claire King

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 538 KB

english, 2010

37

A dual role for interleukin-1 in hippocampal-dependent memory processes

Inbal Goshen, Tirzah Kreisel, Hadile Ounallah-Saad, Paul Renbaum, Yael Zalzstein, Tamir Ben-Hur, Efrat Levy-Lahad, Raz Yirmiya

Journal:

Psychoneuroendocrinology

Year:

2007

Language:

english

File:

PDF, 315 KB

english, 2007

38

10 Gaucher's disease: genetic counselling and population screening

Ephrat Levy-Lahad, Ari Zimran

Journal:

Baillière's Clinical Haematology

Year:

1997

Language:

english

File:

PDF, 1.05 MB

english, 1997

39

Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease

A. Zimran, I. Hadas-Halpern, S. Zevin, E. Levy-Lahad, A. Abrahamov

Journal:

British Journal of Haematology

Year:

1993

Language:

english

File:

PDF, 345 KB

english, 1993

40

Genomic Structure and Expression of STM2, the Chromosome 1 Familial Alzheimer Disease Gene

Ephrat Levy-Lahad, Parvoneh Poorkaj, Kai Wang, Ying Hui Fu, Junko Oshima, John Mulligan, Gerard D. Schellenberg

Journal:

Year:

1996

Language:

english

File:

PDF, 302 KB

english, 1996

41

Low-dose enzyme replacement therapy for Gaucher's disease: Effects of age, sex, genotype, and clinical features on response to treatment

Ari Zimran, Deborah Elstein, Ruth Kannai, Shoshana Zevin, Irith Hadas-Halpern, Ephrat Levy-Lahad, Yael Cohen, Mia Horowitz, Ayala Abrahamov

Journal:

The American Journal of Medicine

Year:

1994

Language:

english

File:

PDF, 1.19 MB

english, 1994

42

Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model

Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Irit Varshower, Baruch Brooks, Rachel Beeri, Ehud J. Margalioth, Ephrat Levy-Lahad, Deborah Elstein, Ari Zimran

Journal:

Blood Cells, Molecules, and Diseases

Year:

2011

Language:

english

File:

PDF, 165 KB

english, 2011

43

Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue

Hadile Ounallah-Saad, Rachel Beeri, Inbal Goshen, Raz Yirmiya, Paul Renbaum, Ephrat Levy-Lahad

Journal:

Year:

2009

Language:

english

File:

PDF, 863 KB

english, 2009

44

Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implications

Marta Sanz-García, Marta Vázquez-Cedeira, Efrat Kellerman, Paul Renbaum, Ephrat Levy-Lahad, Pedro A. Lazo

Journal:

Journal of Proteomics

Year:

2011

Language:

english

File:

PDF, 1.19 MB

english, 2011

45

Preventing Lysosomal Storage Dysorders by Preimplantation Genetic Diagnosis

Gheona Altarescu, Talia Eldar-Geva, Deborah Elstein, Irit Varshaver, Ehud J. Margalioth, Ari Zimran, Ephrat Levy-Lahad, Paul Renbaum

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

46

BRCA1 germline mutations in women with uterine serous papillary carcinoma

Ofer Lavie, Gila Hornreich, Alon Ben Arie, Paul Renbaum, Ephrat Levy-Lahad, Uziel Beller

Journal:

Obstetrics & Gynecology

Year:

2000

Language:

english

File:

PDF, 182 KB

english, 2000

47

Egr-1 upregulates the Alzheimer's disease presenilin-2 gene in neuronal cells

Paul Renbaum, Rachel Beeri, Efrat Gabai, Merav Amiel, Moran Gal, Markus U. Ehrengruber, Ephrat Levy-Lahad

Journal:

Year:

2003

Language:

english

File:

PDF, 1.16 MB

english, 2003

48

37 - Breast & ovarian cancer risk in BRCA mutation carriers: Implications for prevention

R. Catane, D. Halle, B. Kaufman, S. Eisenberg, R. Isaacson, N. Cherny, A. Lahad, G. Homerelch, U. Beller, E. Levy-lahad

Journal:

European Journal of Cancer

Year:

1997

Language:

english

File:

PDF, 389 KB

english, 1997

49

Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome

Ephrat Levy-Lahad, Robert S. Wildin

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 104 KB

english, 2001

50

Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood

Toperoff, G., Aran, D., Kark, J. D., Rosenberg, M., Dubnikov, T., Nissan, B., Wainstein, J., Friedlander, Y., Levy-Lahad, E., Glaser, B., Hellman, A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 572 KB

english, 2012

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