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1

The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease

Germain, Dominique P., Ismaili, Faisal Al, Al-Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Kramis, Mirelle, Moiseev, Sergey, Nampoothiri, Sheela, Niu, Dau-

Journal:

Molecular Genetics and Metabolism

Year:

2020

Language:

english

File:

PDF, 341 KB

english, 2020

2

Cutaneous silent periods in patients with Fabry disease

Nadir Ali Syed, Friedhelm Sandbrink, Carlos A. Luciano, Gheona Altarescu, Thais Weibel, Raphael Schiffmann, Mary Kay Floeter

Journal:

Year:

2000

Language:

english

File:

PDF, 254 KB

english, 2000

3

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

4

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

5

Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease

Yahalom, Claudia, Macarov, Michal, Lazer-Derbeko, Galit, Altarescu, Gheona, Imbar, Tal, Hyman, Jordana H., Eldar-Geva, Talia, Blumenfeld, Anat

Journal:

Ophthalmic Genetics

Year:

2018

Language:

english

File:

PDF, 866 KB

english, 2018

6

The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users

Zuckerman, Shachar, Gooldin, Sigal, Zeevi, David A., Altarescu, Gheona

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2020

File:

PDF, 454 KB

2020

7

Profile of endothelial and leukocyte activation in fabry patients

Thomas DeGraba, Salman Azhar, Françoise Dignat-George, Eric Brown, Brigitte Boutière, Gheona Altarescu, Richard McCarron, Raphael Schiffmann

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 131 KB

english, 2000

8

Plasma chitotriosidase activity in patients with β-thalassemia

G. Altarescu, B. Rudensky, A. Abrahamov, A. Goldfarb, D. Rund, A. Zimran, D. Elstein

Journal:

American Journal of Hematology

Year:

2002

Language:

english

File:

PDF, 59 KB

english, 2002

9

Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: Results of a pilot study in Israel

Sorina Grisaru-Granovsky, Aharon Tevet, Rachel Bar-Shavit, Zaidoun Salah, Deborah Elstein, Arnon Samueloff, Gheona Altarescu

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 101 KB

english, 2007

10

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

11

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

12

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

13

Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease

Avigayil Ribner, Gheona Altarescu, Ari Zimran, Deborah Elstein

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 486 KB

english, 2011

14

Identification of fifteen novel mutations and genotype–phenotype relationship in Fabry disease

GM Altarescu, LG Goldfarb, K-Y Park, C Kaneski, N Jeffries, S Litvak, JW Nagle, R Schiffmann

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 218 KB

english, 2001

15

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

16

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

17

Vitamin D Receptor (VDR) Polymorphisms in the Cardiac Variant of Gaucher Disease

Allen Greenwood, Gheona Altarescu, Ari Zimran, Deborah Elstein

Journal:

Pediatric Cardiology

Year:

2010

Language:

english

File:

PDF, 128 KB

english, 2010

18

Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density

Efrat Arnheim, Gaya Chicco, Mici Phillips, Ehud Lebel, A. Joseph Foldes, Menachem Itzchaki, Deborah Elstein, Ari Zimran, Gheona Altarescu

Journal:

Rheumatology International

Year:

2008

Language:

english

File:

PDF, 244 KB

english, 2008

19

Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease

Allen Greenwood, Deborah Elstein, Ari Zimran, Gheona Altarescu

Journal:

Clinical Rheumatology

Year:

2010

Language:

english

File:

PDF, 107 KB

english, 2010

20

Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease

G. Altarescu, G. Chicco, C. Whybra, S. Delgado-Sanchez, N. Sharon, M. Beck, D. Elstein

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 261 KB

english, 2008

21

Disease severity in sibling pairs with type

Deborah Elstein, Ayelet Gellman, Gheona Altarescu, Aya Abrahamov, Irith Hadas-Halpern, Mici Phillips, Maya Margalit, Ehud Lebel, Menachem Itzchaki, Ari Zimran

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 99 KB

english, 2010

22

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study

Perri Segal, Yoav Kohn, Yehuda Pollak, Gheona Altarescu, Esti Galili-Weisstub, Annick Raas-Rothschild

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 205 KB

english, 2010

23

Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease

Michael Teitcher, Sarah Weinerman, Catharina Whybra, Michael Beck, Nir Sharon, Deborah Elstein, Gheona Altarescu

Journal:

Year:

2008

Language:

english

File:

PDF, 166 KB

english, 2008

24

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

25

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

26

Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease

Itai Magal, Ehud Lebel, Gheona Altarescu, Menachem Itzchaki, Bernard Rudensky, A. Joseph Foldes, Ari Zimran, Deborah Elstein

Journal:

British Journal of Haematology

Year:

2006

Language:

english

File:

PDF, 96 KB

english, 2006

27

Uveitis and Fabry disease

Elstein, D, Altarescu, G, Zimran, A

Journal:

Year:

2006

Language:

english

File:

PDF, 52 KB

english, 2006

28

Coexistence of fabry disease and Crohn's disease: A case report

Gheona Altarescu, Deborah Elstein

Journal:

Inflammatory Bowel Diseases

Year:

2005

Language:

english

File:

PDF, 60 KB

english, 2005

29

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

30

The role of protease activated receptor 1 (PAR1) thrombin receptor polymorphisms in recurrent pregnancy loss (RPL) - not only coagulation

Aron Tevet, Geona Altarescu, Ehud Margaliot, Arnon Samueloff, Rachel Bar-Shavit, Sorina Granovsky-Grisaru

Journal:

American Journal of Obstetrics and Gynecology

Year:

2006

Language:

english

File:

PDF, 121 KB

english, 2006

31

108: Association of vitamin D receptor (VDR) gene polymorphisms with idiopathic preterm birth (IPTB)

Sorina Granovsky-Grisaru, Orly Elstein, Aron Tevet, Geona Altarescu, Michael S. Schimmel, Arnon Samueloff, Deborah Elstein

Journal:

American Journal of Obstetrics and Gynecology

Year:

2008

Language:

english

File:

PDF, 172 KB

english, 2008

32

502: Protease activated receptor 1 (PAR1) genetic variants: key susceptibility factors for idiopathic spontaneous preterm birth (ISPB)

Aharon Tevet, Shunit Armon, Gheona Altarescu, Arnon Samueloff, Sorina Grisaru-Granosvky

Journal:

American Journal of Obstetrics and Gynecology

Year:

2009

Language:

english

File:

PDF, 234 KB

english, 2009

33

Genetic markers in predicting “post-coital associated preterm birth”

Michael S. Schimmel⁎, Altarescu Gheona, Finci Shachar, Tevet Aharon, Samueloff Arnon, Grisaru-Granovsky Sorina

Journal:

Early Human Development

Year:

2008

Language:

english

File:

PDF, 61 KB

english, 2008

34

Natural history of cardiac involvement in hemizygote Fabry patients

G Altarescu, D Moore, R Schiffmann

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

35

Arterial Wall Properties and Womersley Flow in Fabry Disease

David F Moore, Gheona Altarescu, Randall Pursley, Umberto Campia, Julio A Panza, Emilios Dimitriadis, Raphael Schiffmann

Journal:

BMC Cardiovascular Disorders

Year:

2002

Language:

english

File:

PDF, 427 KB

english, 2002

36

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

David F Moore, Gheona Altarescu, Peter Herscovitch, Raphael Schiffmann

Journal:

Year:

2002

Language:

english

File:

PDF, 3.83 MB

english, 2002

37

Female Sex Bias in Human Embryonic Stem Cell Lines

Ben-Yosef, Dalit, Amit, Ami, Malcov, Mira, Frumkin, Tsvia, Ben-Yehudah, Ahmi, Eldar, Ido, Mey-Raz, Nava, Azem, Foad, Altarescu, Gheona, Renbaum, Paul

Journal:

Stem Cells and Development

Year:

2012

Language:

english

File:

PDF, 243 KB

english, 2012

38

Comparative Efficacy of Dose Regimens in Enzyme Replacement Therapy of Type I Gaucher Disease

G Altarescu, R Schiffmann, C.C Parker, D.F Moore, C Kreps, R.O Brady, N.W Barton

Journal:

Blood Cells, Molecules, and Diseases

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

39

Proteinase-activated receptor (PAR1) polymorphic variant correlates with thrombocytopenia in Gaucher disease

Gheona Altarescu, Orit Seror-Bukris, Ari Zimran, Deborah Elstein

Journal:

Blood Cells, Molecules, and Diseases

Year:

2010

Language:

english

File:

PDF, 146 KB

english, 2010

40

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

41

Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply

Ari Zimran, Gheona Altarescu, Deborah Elstein

Journal:

Blood Cells, Molecules, and Diseases

Year:

2011

Language:

english

File:

PDF, 673 KB

english, 2011

42

Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease

Michelle Lieblich, Gheona Altarescu, Ari Zimran, Deborah Elstein

Journal:

Blood Cells, Molecules, and Diseases

Year:

2011

Language:

english

File:

PDF, 160 KB

english, 2011

43

Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: Early Access Program results from Jerusalem

Deborah Elstein, Gheona Altarescu, Hannah Maayan, Mici Phillips, Aya Abrahamov, Irith Hadas-Halpern, Maayan Tiomkin, Ari Zimran

Journal:

Blood Cells, Molecules, and Diseases

Year:

2012

Language:

english

File:

PDF, 427 KB

english, 2012

44

White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions

David F. Moore, Gheona Altarescu, W.Craig Barker, Nicholas J. Patronas, Peter Herscovitch, Raphael Schiffmann

Journal:

Brain Research Bulletin

Year:

2003

Language:

english

File:

PDF, 710 KB

english, 2003

45

TNF-α levels and TNF-α gene polymorphism in type I Gaucher disease

Gheona Altarescu, Ari Zimran, Helen Michelakakis, Deborah Elstein

Journal:

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

46

Does elevated human chorionic gonadotropin alone trigger spontaneous ovarian hyperstimulation syndrome?

Rachel Michaelson-Cohen, Gheona Altarescu, Uziel Beller, Renat Reens, Tamar Halevy-Shalem, Talia Eldar-Geva

Journal:

Fertility and Sterility

Year:

2008

Language:

english

File:

PDF, 312 KB

english, 2008

47

X-inactivation in Fabry disease

Deborah Elstein, Ella Schachamorov, Rachel Beeri, Gheona Altarescu

Journal:

Year:

2012

Language:

english

File:

PDF, 145 KB

english, 2012

48

22 24-months on treatment: Open-label phase I/II long-term study of enzyme replacement therapy (ERT) with Gene-Activated® human glucocerebrosidase (GA-GCB) in patients with type I Gaucher disease

Ari Zimran, G. Altarescu, C. Fratazzi, R. Mensah, D. Elstein

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 46 KB

english, 2007

49

118. 36 months on treatment: Open-label phase I/II long-term study of enzyme replacement therapy (ERT) with “gene-activated” human glucocerebrosidase (GA-GCB) in patients with type I Gaucher disease

Ari Zimran, Kiran Bhirangi, Robert Mensah, Gheona Altarescu, Deborah Elstein

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

50

47. Computerized cognitive testing in patients with Fabry disease: A descriptive pilot study

Deborah Elstein, Glen Doniger, Ely Simon, Gheona Altarescu

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 54 KB

english, 2010

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