Ephrat Levy Lahad: search on Z-Library

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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

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

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

8

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

9

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

10

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

11

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

12

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

13

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

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

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

16

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

17

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

18

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

19

TheCYP17A1−34T

Bella Kaufman, Yael Laitman, Elad Ziv, Ute Hamann, Diana Torres, Ephrat Levy Lahad, Rachel Beeri, Paul Renbaum, Anna Jakubowska, Jan Lubinski, Tomasz Huzarski, Aleksandra Tołoczko-Grabarek, Katarzyna

Journal:

Breast Cancer Research and Treatment

Year:

2011

Language:

english

File:

PDF, 216 KB

english, 2011

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

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

35

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

36

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

37

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

38

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

39

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

40

Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies

Ying Li, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Ephrat Levy-Lahad, Ehud J Margalioth, Xiaoyan Zhong, Sinuhe Hahn, Wolfgang Holzgreve

Journal:

Reproductive BioMedicine Online

Year:

2009

Language:

english

File:

PDF, 562 KB

english, 2009

41

PGD for germline mosaicism

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

Journal:

Reproductive BioMedicine Online

Year:

2012

Language:

english

File:

PDF, 345 KB

english, 2012

42

600 Genetic analysis of familial Alzheimer's disease

G.D. Schellenberg, Thomas D. Bird, Ephrat Levy-Lahad, Ellen M. Wijsman

Journal:

Neurobiology of Aging

Year:

1996

Language:

english

File:

PDF, 136 KB

english, 1996

43

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

44

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

Shkedi-Rafid, Shiri, Gabai-Kapara, Efrat, Grinshpun-Cohen, Julia, Levy-Lahad, Ephrat

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 229 KB

english, 2012

45

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

46

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

47

Parkin acts as a transcription factor modulating presenilin-1 and presenilin-2 promoter transactivations

Duplan, Eric, Sévalle, Jean, Viotti, Julien, Goiran, Thomas, Bauer, Charlotte, Renbaum, Paul, Levy-Lahad, Ephrat, Gautier, Clément A, Corti, Olga, Leroudier, Nathalie, Checler, Frédéric, da Costa, Cri

Journal:

Molecular Neurodegeneration

Year:

2013

Language:

english

File:

PDF, 87 KB

english, 2013

48

Mo1067 High Yield Pro-Active Outreach Program for Identifying Patients At High Risk for Lynch Syndrome After Surgery for Colorectal Cancer -Results of a Pilot Study

Adar, Tomer, Tribich, Liat, Lieberman, Sari, Levy-Lahad, Ephrat, Goldi, Eran

Journal:

Gastroenterology

Year:

2014

Language:

english

File:

PDF, 49 KB

english, 2014

49

Gilbert Syndrome and Glucose-6-Phosphate Dehydrogenase Deficiency: A Dose-Dependent Genetic Interaction Crucial to Neonatal Hyperbilirubinemia

Michael Kaplan, Paul Renbaum, Ephrat Levy-Lahad, Cathy Hammerman, Amnon Lahad and Ernest Beutler

Journal:

Proceedings of the National Academy of Sciences

Year:

1997

Language:

english

File:

PDF, 827 KB

english, 1997

50

Neonatal outcome after preimplantation genetic diagnosis

Eldar-Geva, Talia, Srebnik, Naama, Altarescu, Gheona, Varshaver, Irit, Brooks, Baruch, Levy-Lahad, Ephrat, Bromiker, Ruben, Schimmel, Michael S.

Journal:

Fertility and Sterility

Year:

2014

Language:

english

File:

PDF, 163 KB

english, 2014