Reinstein, Eyal: search on Z-Library

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1

Chromosomal microarray analysis in fetuses with aberrant right subclavian artery

Maya, Idit, Kahana, Sarit, Yeshaya, Josepha, Tenne, Tamar, Yacobson, Shiri, Agmon-Fishman, Ifaat, Cohen-Vig, Lital, Levi, Alex, Reinstein, Eyal, Basel-Vanagaite, Lina, Sharony, Reuven

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2016

Language:

english

File:

PDF, 950 KB

english, 2016

2

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

Reinstein, Eyal, Pariani, Mitchel, Bannykh, Serguei, Rimoin, David L, Schievink, Wouter I

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 226 KB

english, 2013

3

Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature

Reinstein, Eyal, Pimentel, Mark, Pariani, Mitchel, Nemec, Stephen, Sokol, Thomas, Rimoin, David L.

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 442 KB

english, 2012

4

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype

REINSTEIN, EYAL, TZUR, SHAY, BORMANS, CONCETTA, BEHAR, DORON M.

Journal:

Genetics Research

Year:

2016

Language:

english

File:

PDF, 146 KB

english, 2016

5

Arterial tortuosity in patients with Filamin A - associated vascular aneurysms

Reinstein, Eyal, Morris, Shaine A., Rimoin, David L., Robertson, Stephen P., Lacro, Ronald V.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

6

Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia

Reinstein, Eyal, Orvin, Katia, Tayeb-Fligelman, Einav, Stiebel-Kalish, Hadas, Tzur, Shay, Pimienta, Allen L., Bazak, Lily, Bengal, Tuvia, Cohen, Lior, Gaton, Dan D., Bormans, Concetta, Landau, Meytal,

Journal:

Year:

2015

Language:

english

File:

PDF, 958 KB

english, 2015

7

Basal and Human Papillomavirus E6 Oncoprotein-Induced Degradation of Myc Proteins by the Ubiquitin Pathway

Shlomit Gross-Mesilaty, Eyal Reinstein, Beatrice Bercovich, Karin E. Tobias, Alan L. Schwartz, Chaim Kahana and Aaron Ciechanover

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.66 MB

english, 1998

8

The association between maternal serum first trimester free βhCG, second trimester intact hCG levels and foetal growth restriction and preeclampsia

Sharony, Reuven, Sharon-Weiner, Maya, Kidron, Debora, Sukenik-Halevy, Rivka, Biron-Shental, Tal, Manor, Mira, Reinstein, Eyal, Maymon, Ron

Journal:

Journal of Obstetrics & Gynaecology

Year:

2018

Language:

english

File:

PDF, 683 KB

english, 2018

9

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

Bergman, Reuven, Nevet, Mariela Judith, Gescheidt-Shoshany, Hadas, Pimienta, Allen L., Reinstein, Eyal

Journal:

JAMA Dermatology

Year:

2014

Language:

english

File:

PDF, 466 KB

english, 2014

10

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy

COHEN, LIOR, TZUR, SHAY, GOLDENBERG-COHEN, NITZA, BORMANS, CONCETTA, BEHAR, DORON M., REINSTEIN, EYAL

Journal:

Genetics Research

Year:

2016

Language:

english

File:

PDF, 112 KB

english, 2016

11

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

Reinstein, Eyal, Tzur, Shay, Cohen, Rony, Bormans, Concetta, Behar, Doron M

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 435 KB

english, 2016

12

More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia

Pimienta, Allen L., Wilcox, William R., Reinstein, Eyal

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 260 KB

english, 2013

13

Autoimmunity and mast cell-related diseases

Reinstein, Eyal, Mekori, Yoseph A, Mor, Adam

Journal:

Expert Review of Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 240 KB

english, 2008

14

Familial Occurrence of Atrioventricular Nodal Reentrant Tachycardia

Michowitz, Yoav, Anis-Heusler, Adi, Reinstein, Eyal, Tovia-Brodie, Oholi, Glick, Aharon, Belhassen, Bernard

Journal:

Circulation Arrhythmia and Electrophysiology

Year:

2017

Language:

english

File:

PDF, 808 KB

english, 2017

15

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Reinstein, Eyal, Frentz, Sophia, Morgan, Tim, García-Miñaúr, Sixto, Leventer, Richard J, McGillivray, George, Pariani, Mitchel, van der Steen, Anthony, Pope, Michael, Holder-Espinasse, Muriel, Scott,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.64 MB

english, 2013

16

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

Reinstein, Eyal, Smirin-Yosef, Pola, Lagovsky, Irina, Davidov, Bella, Peretz Amit, Gabriela, Neumann, Doron, Orr-Urtreger, Avi, Ben-Shachar, Shay, Basel-Vanagaite, Lina

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 528 KB

english, 2016

17

Antiphospholipid Syndrome and Cancer

Eyal Reinstein, Yehuda Shoenfeld

Journal:

Clinical Reviews in Allergy & Immunology

Year:

2007

Language:

english

File:

PDF, 92 KB

english, 2007

18

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder

Barajas, Brenda D., Sun, Angela, Rimoin, David L., Reinstein, Eyal

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 395 KB

english, 2013

19

Narrative Review: Protein Degradation and Human Diseases: The Ubiquitin Connection

Reinstein, Eyal

Journal:

Annals of Internal Medicine

Year:

2006

Language:

english

File:

PDF, 560 KB

english, 2006

20

Echocardiographic findings in patients with spontaneous CSF leak

Pimienta, Allen L., Rimoin, David L., Pariani, Mitchel, Schievink, Wouter I., Reinstein, Eyal

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 177 KB

english, 2014

21

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

Reinstein, Eyal, Gutierrez-Fernandez, Ana, Tzur, Shay, Bormans, Concetta, Marcu, Shai, Tayeb-Fligelman, Einav, Vinkler, Chana, Raas-Rothschild, Annick, Irge, Dana, Landau, Meytal, Shohat, Mordechai, P

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 954 KB

english, 2016

22

Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

Eyal Reinstein, Bernard S. Chang, Stephen P. Robertson, David L. Rimoin, Tami Katzir

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 187 KB

english, 2012

23

Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues

Eyal Reinstein, Ericka B. Okenfuss, Isha Wadhawan…

Journal:

Journal of Applied Genetics

Year:

2013

Language:

english

File:

PDF, 175 KB

english, 2013

24

Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

Reinstein, Eyal, DeLozier, Celia Dawn, Simon, Ziv, Bannykh, Serguei, Rimoin, David L, Curry, Cynthia J

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 873 KB

english, 2013

25

Challenges of using next generation sequencing in newborn screening

REINSTEIN, EYAL

Journal:

Genetics Research

Year:

2015

Language:

english

File:

PDF, 78 KB

english, 2015

26

Mutations in ERGIC1 cause Arthrogryposis Multiplex Congenita, Neuropathic type

Reinstein, Eyal, Dersinover, Valerie, Lotan, Rona, Gal-Tanhami, Meital, Nachman, Inbal Bulokin, Eyal, Eran, Lutfi, Jaber, Magal, Nurit, Shohat, Mordechai

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

27

Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice

Christopher J Cummings, Eyal Reinstein, Yaling Sun, Barbara Antalffy, Yong-hui Jiang, Aaron Ciechanover, Harry T Orr, Arthur L Beaudet, Huda Y Zoghbi

Journal:

Year:

1999

Language:

english

File:

PDF, 677 KB

english, 1999

28

Early-onset osteoarthritis in Ehlers–Danlos syndrome type VIII

Eyal Reinstein, Mitchel Pariani, Ralph S. Lachman, Stephen Nemec, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 190 KB

english, 2012

29

Ehlers–Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree

Eyal Reinstein, Raymond Y. Wang, Ling Zhan, David L. Rimoin, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 6.90 MB

english, 2011

30

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing

Sharony, Reuven, Borochowitz, Zvi, Cohen, Lior, Storch, Atalia, Rosenfeld, Revital, Modai, Shira, Reinstein, Eyal

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

31

389: The yield of Chromosomal microarray analysis in cases of pregnancy termination due to fetal malformations

Pasternak, Yael, Daykan, Yair, Tenne, Tamar, Reinstein, Eyal, Miller, Netanella, Shechter-Maor, Gil, Maya, Idit, Biron-Shental, Tal, Halevy, Rivka Sukenik

Journal:

American Journal of Obstetrics and Gynecology

Year:

2019

Language:

english

File:

PDF, 832 KB

english, 2019

32

Degradation of the E7 human papillomavirus oncoprotein by the ubiquitin-proteasome system: targeting via ubiquitination of the N-terminal residue

Reinstein, Eyal, Scheffner, Martin, Oren, Moshe, Ciechanover, Aaron, Schwartz, Alan

Journal:

Year:

2000

Language:

english

File:

PDF, 216 KB

english, 2000

33

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome

Reinstein, Eyal, Liberman, Meytal, Feingold-Zadok, Michal, Tenne, Tamar, Graham, John M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 400 KB

english, 2016

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