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1

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Hagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, Shlomit Eisenberg-Barzilai, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Lakshmi Mehta, Reuven Achiron, Yinon Gilboa, Sylvie Polak-Charcon,

Журнал:

Prenatal Diagnosis

Рік:

2012

Мова:

english

Файл:

PDF, 195 KB

english, 2012

2

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

Heimer, Gali, Oz-Levi, Danit, Eyal, Eran, Edvardson, Shimon, Nissenkorn, Andreea, Ruzzo, Elizabeth K., Szeinberg, Amir, Maayan, Channa, Mai-Zahav, Meir, Efrati, Ori, Pras, Elon, Reznik-Wolf, Haike, La

Журнал:

European Journal of Paediatric Neurology

Рік:

2016

Мова:

english

Файл:

PDF, 1.56 MB

english, 2016

3

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean Fever

Dina Marek-Yagel, Yackov Berkun, Shai Padeh, Merav Lidar, Yael Shinar, Ifat Bar-Joseph, Haike Reznik-Wolf, Pnina Langevitz, Avi Livneh, Elon Pras

Журнал:

Arthritis Care & Research

Рік:

2010

Мова:

english

Файл:

PDF, 70 KB

english, 2010

4

Clinical disease among patients heterozygous for familial mediterranean fever

Dina Marek-Yagel, Yackov Berkun, Shai Padeh, Almogit Abu, Haike Reznik-Wolf, Avi Livneh, Mordechai Pras, Elon Pras

Журнал:

Arthritis & Rheumatism

Рік:

2009

Мова:

english

Файл:

PDF, 65 KB

english, 2009

5

A novel mutation ofpresenilin 1in familial Alzheimer’s disease in Israel detected by denaturing gradient gel electrophoresis

Haike Reznik-Wolf, Therese A. Treves, Michael Davidson, Judith Aharon-Peretz, Peter H. St. George Hyslop, Joab Chapman, Amos D. Korczyn, Boleslaw Goldman, E. Friedman

Журнал:

Рік:

1996

Мова:

english

Файл:

PDF, 47 KB

english, 1996

6

A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis

H.N. Baris, A. Zlotogorski, G. Peretz-Amit, V. Doviner, M. Shohat, H. Reznik-Wolf, E. Pras

Журнал:

British Journal of Dermatology

Рік:

2008

Мова:

english

Файл:

PDF, 442 KB

english, 2008

7

Severe congenital lymphoedema not caused by mutations in known lymphoedema genes

S. Greenberger, H. Reznik-Wolf, A. Ghalamkarpour, D. Marek-Yagel, M. Vikkula, E. Pras

Журнал:

British Journal of Dermatology

Рік:

2010

Мова:

english

Файл:

PDF, 222 KB

english, 2010

8

Rapidly progressive Creutzfeldt–Jakob disease in patients with Familial Mediterranean Fever

S. A. Appel, J. Chapman, E. Kahana, H. Rosenmann, I. Prohovnik, E. Pras, H. Reznik-Wolf, O. S. Cohen

Журнал:

European Journal of Neurology

Рік:

2010

Мова:

english

Файл:

PDF, 87 KB

english, 2010

9

Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE)

Reznik-Wolf, Haike, Treves, Therese A, Shabtai, Herzel, Aharon-Peretz, Judith, Chapman, Joab, Davidson, Michael, Barkai, Gad, St George Hyslop, Peter H, Goldman, Boleslaw, Korczyn, Amos D

Журнал:

European Journal of Human Genetics

Рік:

1998

Мова:

english

Файл:

PDF, 1.20 MB

english, 1998

10

An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

Zlotogorski, Abraham, Marek, Dina, Horev, Liran, Abu, Almogit, Ben-Amitai, Dan, Gerad, Liora, Ingber, Arieh, Frydman, Moshe, Reznik-Wolf, Haike, Vardy, Daniel A

Журнал:

The Journal of Investigative Dermatology

Рік:

2006

Мова:

english

Файл:

PDF, 204 KB

english, 2006

11

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Uri Nir, Haike Reznik-Wolf, Elon Pras

Журнал:

The American Journal of Human Genetics

Рік:

2008

Мова:

english

Файл:

PDF, 701 KB

english, 2008

12

55 Somatic mutational analyses of the APP and Presenillin 1 genes in Alzheimer's disease patients brains using Denaturing Gradient Gel Electrophoresis (DGGE)

Haike Reznik-Wolf, Joao Machado, Vahram Haroutunlan, Luiz DeMarco, Gerhard Franz Walter, Yoav Chapman, Boleslaw Goldman, Michael Dasvidson, Janet Johnston, Lars Lannfelt, Sergio Ulhoa Dani, Eitan Frie

Журнал:

Neurobiology of Aging

Рік:

1996

Мова:

english

Файл:

PDF, 140 KB

english, 1996

13

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia

Bar-joseph, Ifat, Pras, Elon, Reznik-Wolf, Haike, Marek-Yagel, Dina, Abu-Horvitz, Almogit, Dushnitzky, Maya, Goldstein, Nurit, Rienstein, Shlomit, Dekel, Michal, Pode-Shakked, Ben, Zlotnik, Joseph, Be

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 458 KB

english, 2012

14

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

Danit Oz-Levi, Bruria Ben-Zeev, Elizabeth K. Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik-Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben-Ash

Журнал:

The American Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 941 KB

english, 2012

15

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf,

Журнал:

Рік:

2013

Мова:

english

Файл:

PDF, 1.92 MB

english, 2013

16

Founder mutation for Huntington disease in Caucasus Jews

Melamed, O., Behar, D. M., Bram, C., Magal, N., Pras, E., Reznik-Wolf, H., Borochowitz, Z. U., Davidov, B., Mor-Cohen, R., Baris, H. N.

Журнал:

Clinical Genetics

Рік:

2015

Мова:

english

Файл:

PDF, 567 KB

english, 2015

17

Somatic Mutation Analysis of the APP and Presenilin 1 and 2 Genes in Alzheimer's Disease Brains

Reznik-Wolf, Haike, Machado, Joao, Haroutunian, Vahram, Demarco, Luiz, Walter, Gerhard Franz, Goldman, Boleslaw, Davidson, Michael, Johnston, Janet A., Lannfelt, Lars, Dani, Sergio U., Friedman, Eitan

Журнал:

Journal of Neurogenetics

Рік:

1998

Мова:

english

Файл:

PDF, 598 KB

english, 1998

18

Point Mutation in the HCN4 Cardiac Ion Channel Pore Affecting Synthesis, Trafficking, and Functional Expression Is Associated With Familial Asymptomatic Sinus Bradycardia

Nof, E., Luria, D., Brass, D., Marek, D., Lahat, H., Reznik-Wolf, H., Pras, E., Dascal, N., Eldar, M., Glikson, M.

Журнал:

Рік:

2007

Мова:

english

Файл:

PDF, 2.17 MB

english, 2007

19

Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency

Ben-Shachar, S., Ayalon, I., Reznik-Wolf, H., Tenenbaum-Rakover, Y., Zuckerman-Levin, N., Cohen, O., Lifshitz, A., Fraenkel, M., Toledano, Y., Roash, V., Koren, I., Modan-Moses, D., Hirsch, D., Schach

Журнал:

Hormone and Metabolic Research

Рік:

2014

Мова:

english

Файл:

PDF, 299 KB

english, 2014

20

Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q

Dekel-Naftali, Michal, Aviram-Goldring, Ayala, Litmanovitch, Talia, Shamash, Jana, Reznik-Wolf, Haike, Laevsky, Ilana, Amit, Michal, Itskovitz-Eldor, Joseph, Yung, Yuval, Hourvitz, Ariel, Schiff, Eyal

Журнал:

European Journal of Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 974 KB

english, 2012

21

Prenatal Diagnosis of Loeys-Dietz Syndrome

Gindes, L., Berkenstadt, M., Reznik-Wolf, H., Pras, E., Achiron, R.

Журнал:

Ultraschall in der Medizin / European Journal of Ultrasound

Рік:

2014

Мова:

english

Файл:

PDF, 89 KB

english, 2014

22

Familial pure proximal renal tubular acidosis--a clinical and genetic study

Katzir, Z., Dinour, D., Reznik-Wolf, H., Nissenkorn, A., Holtzman, E.

Журнал:

Nephrology Dialysis Transplantation

Рік:

2007

Мова:

english

Файл:

PDF, 396 KB

english, 2007

23

Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology

Achiron, R., Katorza, E., Reznik-Wolf, H., Pras, E., Kidron, D., Berkenstadtt, M.

Журнал:

Ultrasound International Open

Рік:

2016

Мова:

english

Файл:

PDF, 718 KB

english, 2016

24

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin

Heimer, G., Eyal, E., Zhu, X., Ruzzo, E.K., Marek-Yagel, D., Sagiv, Doron, Anikster, Y., Reznik-Wolf, H., Pras, E., Oz Levi, D., Lancet, D., Ben-Zeev, B., Nissenkorn, A.

Журнал:

European Journal of Paediatric Neurology

Рік:

2017

Мова:

english

Файл:

PDF, 1.43 MB

english, 2017

25

Correction: Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency

Ben-Shachar, S., Ayalon, I., Reznik-Wolf, H., Tenenbaum-Rakover, Y., Zuckerman-Levin, N., Cohen, O., Lifshitz, A., Fraenkel, M., Toledano, Y., Rouach, V., Koren, I., Modan-Moses, D., Hirsch, D., Schac

Журнал:

Hormone and Metabolic Research

Рік:

2015

Файл:

PDF, 68 KB

2015

26

Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24

Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Stolovitch, Chaim, Aviram-Goldring, Ayala, Rienstein, Shlomit, Reznik-Wolf, Haike, Pras, Elon

Журнал:

Investigative Ophthalmology & Visual Science

Рік:

2006

Мова:

english

Файл:

PDF, 181 KB

english, 2006

27

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period

Eyal, Ori, Berkenstadt, Michal, Reznik-Wolf, Haike, Poran, Hana, Ziv-Baran, Tomer, Greenbaum, Lior, Yonath, Hagit, Pras, Elon

Журнал:

Molecular Genetics & Genomic Medicine

Рік:

2019

Файл:

PDF, 377 KB

2019

28

Noncoding deletions reveal a gene that is critical for intestinal function

Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K., Han, Yujun, Vos, Erica S. M., Reznik-Wolf, Haik

Журнал:

Рік:

2019

Мова:

english

Файл:

PDF, 7.34 MB

english, 2019

29

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella,

Журнал:

Frontiers in Genetics

Рік:

2019

Мова:

english

Файл:

PDF, 236 KB

english, 2019

30

Clues and challenges in the diagnosis of intermittent maple syrup urine disease

Pode-Shakked, Naomi, Korman, Stanley H., Pode-Shakked, Ben, Landau, Yuval, Kneller, Katya, Abraham, Smadar, Shaag, Avraham, Ulanovsky, Igor, Daas, Suha, Saraf-Levy, Talya, Reznik-Wolf, Haike, Vivante,

Журнал:

European Journal of Medical Genetics

Рік:

2020

Файл:

PDF, 704 KB

2020

31

Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews

Oz, Shimrit, Yonath, Hagith, Visochyk, Leonid, Ofek, Efrat, Landa, Natalie, Reznik-Wolf, Haike, Ortiz-Genga, Martin, Monserrat, Lorenzo, Ben-Gal, Tuvia, Goitein, Orly, Beinart, Roy, Glikson, Michael,

Журнал:

International Journal of Cardiology

Рік:

2020

Файл:

PDF, 1.77 MB

2020

32

Salt losing 21-hydroxylase deficiency caused by double homozygosity for two "mild" mutations

Ilany, Jacob, Liu, Jiayan, Welsch, Christoph, Reznik-Wolf, Haike, Levy-Lahad, Ephrat, Auchus, Richard J

Журнал:

Journal of Clinical Endocrinology & Metabolism

Рік:

2020

Файл:

PDF, 882 KB

2020