E. Levy-Lahad: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

Epsztejn-Litman, Silvina, Cohen-Hadad, Yaara, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Levy-Lahad, Ephrat, Schonberger, Oshrat, Eldar-Geva, Talia, Zeligson, Sharon, Eiges, Rachel, Wutz, Anton

Journal:

Year:

2015

Language:

english

File:

PDF, 7.00 MB

english, 2015

9

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

10

Simultaneous preimplantation genetic diagnosis for Tay–Sachs and Gaucher disease

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

Journal:

Reproductive BioMedicine Online

Year:

2007

Language:

english

File:

PDF, 362 KB

english, 2007

11

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

Pierce, Sarah B., Gersak, Ksenija, Michaelson-Cohen, Rachel, Walsh, Tom, Lee, Ming K., Malach, Daniel, Klevit, Rachel E., King, Mary-Claire, Levy-Lahad, Ephrat

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

12

P-2 Overcoming limitations of single cell analysis in duplicated and GC-rich genomic regions using multiple displacement amplification for preimplantation genetic diagnosis (PGD)

Zeevi, D.A., Renbaum, P., Eldar-Geva, T., Ron-El, R., Raziel, A., Brooks, B., Strassburger, D., Margalioth, E.J., Levy-Lahad, E., Altarescu, G.

Journal:

Reproductive BioMedicine Online

Year:

2013

Language:

english

File:

PDF, 196 KB

english, 2013

13

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

Backenroth, Daniel, Zahdeh, Fouad, Kling, Yehuda, Peretz, Aharon, Rosen, Tzvia, Kort, Dina, Zeligson, Sharon, Dror, Tal, Kirshberg, Sophie, Burak, Efrat, Segel, Reeval, Levy-Lahad, Ephrat, Zangen, Dav

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.51 MB

english, 2018

14

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

15

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

16

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

17

Sentinel lymph node biopsy in prophylactic mastectomy for risk reduction in breast cancer patients

M Carmon, O Olsha, E Levy-Lahad, D Hain, R Spira, R Abu-Dalo, D.B Odenheimer, A Gabizon

Journal:

European Journal of Cancer Supplements

Year:

2004

Language:

english

File:

PDF, 165 KB

english, 2004

18

Medical genetics in Israel's diverse population

Shalev, Satvit A, Zlotogora, Joel, Shalata, Adel, Levy-Lahad, Ephrat

Journal:

Year:

2017

Language:

english

File:

PDF, 465 KB

english, 2017

19

Neonatal Hyperbilirubinemia in Glucose-6-Phosphate Dehydrogenase-deficient Heterozygotes

Kaplan, Michael, Beutler, Ernest, Vreman, Hendrik J., Hammerman, Cathy, Levy-Lahad, Ephrat, Renbaum, Paul, Stevenson, David K.

Journal:

Year:

1999

Language:

english

File:

PDF, 349 KB

english, 1999

20

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

21

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

22

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

23

Preimplantation Genetic Diagnosis in Genomic Regions with Duplications and Pseudogenes: Long-Range PCR in the Single-Cell Assay

Zeevi, David A., Renbaum, Paul, Ron-El, Raphael, Eldar-Geva, Talia, Raziel, Arieh, Brooks, Baruch, Strassburger, Dvorah, Margalioth, Ehud J., Levy-Lahad, Ephrat, Altarescu, Gheona

Journal:

Year:

2013

Language:

english

File:

PDF, 1.30 MB

english, 2013

24

OR13-002 Recessive mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause systemic and cutaneous polyarteritis nodosa (PAN)

E Levy-Lahad,P Elkan-Navon,R Segel,SB Pierce,T Walsh…

Journal:

Pediatric Rheumatology

Year:

2013

Language:

english

File:

PDF, 99 KB

english, 2013

25

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia

Breuer, O., abdulhadi-Atwan, M., Zeligson, S., Fridman, H., Renbaum, P., Levy-Lahad, E., Zangen, D. H.

Journal:

European Journal of Endocrinology

Year:

2012

Language:

english

File:

PDF, 177 KB

english, 2012

26

Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer

Hadar, Tal, Mor, Pnina, Amit, Gefen, Lieberman, Sari, Gekhtman, David, Rabinovitch, Rachel, Levy-Lahad, Ephrat

Journal:

Year:

2020

File:

PDF, 154 KB

2020

27

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

Avitzour, Michal, Mor-Shaked, Hagar, Yanovsky-Dagan, Shira, Aharoni, Shira, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Levy-Lahad, Ephrat, Epsztejn-Litman, Silvina, Eige

Journal:

Stem Cell Reports

Year:

2014

Language:

english

File:

PDF, 1002 KB

english, 2014

28

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

Toland, Amanda Ewart, Forman, Andrea, Couch, Fergus J., Culver, Julie O., Eccles, Diana M., Foulkes, William D., Hogervorst, Frans B. L., Houdayer, Claude, Levy-Lahad, Ephrat, Monteiro, Alvaro N., Neu

Journal:

npj Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 1.33 MB

english, 2018

29

Familial communication and cascade testing among relatives of BRCA population screening participants

Lieberman, Sari, Lahad, Amnon, Tomer, Ariela, Koka, Sivan, BenUziyahu, Malka, Raz, Aviad, Levy-Lahad, Ephrat

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 176 KB

english, 2018

30

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

31

O8 Preimplantation genetic diagnosis (PGD) for monogenic disorders. When blastomere analysis may be impossible

P. Renbaum, T. Eldar-Geva, R. Beeri, I. Varshower, B. Brooks, E. Zylber Haran, E.J. Margalioth, E. Levy-Lahad, G. Altarescu

Journal:

Reproductive BioMedicine Online

Year:

2010

Language:

english

File:

PDF, 52 KB

english, 2010

32

Ethnic ancestry and increased paternal age are risk factors for breast cancer before the age of 40 years

Weiss-Salz, Inbal, Harlap, Susan, Friedlander, Yehiel, Kaduri, Luna, Levy-Lahad, Efrat, Yanetz, Rivka, Deutsch, Lisa, Hochner, Hagit, Paltiel, Ora

Journal:

European Journal of Cancer Prevention

Year:

2007

Language:

english

File:

PDF, 88 KB

english, 2007

33

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

34

Replacement therapy with imiglucerase for type 1 Gaucher's disease

A. Zimran, D. Elstein, E. Levy-Lahad, S. Zevin, I. Hadas-Halpern, A. Abrahamov, Y. Bar-Ziv, A. Schwartz, J. Foldes

Journal:

Year:

1995

Language:

english

File:

PDF, 251 KB

english, 1995

35

Preimplantation genetic diagnosis in a highly recombinant region: when crossover between the TSC2 gene and linked markers makes accurate diagnosis extremely difficult

P Renbaum, Geva T Eldar, B Brooks, E Margalioth, E Levy-Lahad, G Altarescu

Journal:

Reproductive BioMedicine Online

Year:

2008

Language:

english

File:

PDF, 127 KB

english, 2008

36

VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle

Cantarero, Lara, Sanz-García, Marta, Vinograd-Byk, Hadar, Renbaum, Paul, Levy-Lahad, Ephrat, Lazo, Pedro A.

Journal:

Scientific Reports

Year:

2015

Language:

english

File:

PDF, 2.96 MB

english, 2015

37

Differing Pathogenesis of Perinatal Bilirubinemia in Glucose-6-Phosphate Dehydrogenase-Deficient Versus-Normal Neonates

Kaplan, Michael, Hammerman, Cathy, Renbaum, Paul, Levy-Lahad, Ephrat, Vreman, Hendrik J, Stevenson, David K

Journal:

Pediatric Research

Year:

2001

File:

PDF, 76 KB

2001

38

Human Embryo Editing: Opportunities and Importance of Transnational Cooperation

Pei, Duanqing, Beier, David W., Levy-Lahad, Ephrat, Marchant, Gary, Rossant, Janet, Izpisua Belmonte, Juan Carlos, Lovell-Badge, Robin, Jaenisch, Rudolf, Charo, Alta, Baltimore, David

Journal:

Year:

2017

Language:

english

File:

PDF, 278 KB

english, 2017

39

Israeli Position Paper

Steinberg, Avraham, Levy-Lahad, Ephrat, Karni, Tami, Sprung, Charles L.

Journal:

Year:

2020

File:

PDF, 139 KB

2020

40

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

41

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required

Reish, Orit, Shefer-Kaufmann, Niva, Shimshoni, Daphne Chapman, Renbaum, Paul, Orr-Urtreger, Avi, Steiner, Hillel, Rapoport, Micha, Levy-Lahad, Ephrat, Altarescu, Gheona

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 246 KB

english, 2010

42

Carrier Screening for Gaucher Disease: Lessons for Low-Penetrance, Treatable Diseases

Zuckerman, Shachar, Lahad, Amnon, Shmueli, Amir, Zimran, Ari, Peleg, Leah, Orr-Urtreger, Avi, Levy-Lahad, Ehrat, Sagi, Michal

Journal:

Obstetric and Gynecologic Survey

Year:

2008

Language:

english

File:

PDF, 626 KB

english, 2008

43

Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors

Laitman, Yael, Michaelson-Cohen, Rachel, Chen-Shtoyerman, Rakefet, Goldberg, Yael, Reish, Orit, Bernstein-Molho, Rinat, Levy-Lahad, Ephrat, Baruch, Noa Ephrat Ben, Kedar, Inbal, Evans, D. Gareth, Haim

Journal:

Familial Cancer

Year:

2020

File:

PDF, 731 KB

2020

44

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

45

149 The Presenilin 1 and 2 mutations linked to familial Alzheimer's Disease increase the extracellular concentration of amyloid 0 protein (Aβ) ending at Aβ42(43)

S. Younkin, D. Scheuner, X. Song, C. Eckman, M. Citron, N. Suzuki, T. Bird, J. Hardy, M. Hutton, L. Lannfelt, E. Levy-Lahad, E. Peskind, P. Poorkaj, G. Schellenberg, R. Tanzi, M. Viitanen, W. Wasco, D

Journal:

Neurobiology of Aging

Year:

1996

Language:

english

File:

PDF, 152 KB

english, 1996

46

Laparoscopic oophorectomy combined with breast surgery for breast cancer patients

M Carmon, O Olsha, B Zuckerman, E Levy-Lahad, L Rivkin, D.B Odenheimer, U Beller

Journal:

European Journal of Cancer Supplements

Year:

2004

Language:

english

File:

PDF, 173 KB

english, 2004

47

O-22 Embryo biopsy for PGD has no significant impact on neonatal outcome

Eldar-Geva, T., Srebnik, N., Margalioth, E.J., Schonberger, O., Varshaver, I., Perez, A., Rubinstein, E., Renbaum, P., Dekel, N., Levy-Lahad, E., Altarescu, G.

Journal:

Reproductive BioMedicine Online

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

48

Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription

Duplan, E., Sevalle, J., Viotti, J., Goiran, T., Bauer, C., Renbaum, P., Levy-Lahad, E., Gautier, C. A., Corti, O., Leroudier, N., Checler, F., Alves da Costa, C.

Journal:

Journal of Molecular Cell Biology

Year:

2013

Language:

english

File:

PDF, 391 KB

english, 2013

49

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

50

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

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