Marek-Yagel, D: search on Z-Library

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1

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

Landau, Yuval E., Heimer, Gali, Barel, Ortal, Shalva, Nechama, Marek-Yagel, Dina, Veber, Alvit, Javasky, Elisheva, Shilon, Aya, Nissenkorn, Andreea, Ben-Zeev, Bruria, Anikster, Yair

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 901 KB

2020

2

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez,

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

3

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome

Vardi, Iddo, Barel, Ortal, Sperber, Michal, Schvimer, Michael, Nunberg, Moran, Field, Michael, Ouahed, Jodie, Marek-Yagel, Dina, Werner, Lael, Haberman, Yael, Lahad, Avishay, Anikster, Yair, Rechavi,

Journal:

Digestive Diseases and Sciences

Year:

2018

Language:

english

File:

PDF, 1.36 MB

english, 2018

4

Is E148Q a Benign Polymorphism or a Disease-causing Mutation?

MAREK-YAGEL, D., BAR-JOSEPH, I., PRAS, E., BERKUN, Y.

Journal:

The Journal of Rheumatology

Year:

2009

Language:

english

File:

PDF, 71 KB

english, 2009

5

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.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.43 MB

english, 2017

6

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Heimer, G., Marek-Yagel, D., Eyal, E., Barel, O., Oz Levi, D., Hoffmann, C., Ruzzo, E.K., Ganelin-Cohen, E., Lancet, D., Pras, E., Rechavi, G., Nissenkorn, A., Anikster, Y., Goldstein, D.B., Ben Zeev,

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 2.60 MB

english, 2015

7

Glutaric Aciduria type I and acute renal failure — Coincidence or causality?

Pode-Shakked, Ben, Marek-Yagel, Dina, Rubinshtein, Marina, Pessach, Itai M., Paret, Gideon, Volkov, Alexander, Anikster, Yair, Lotan, Danny

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 1.14 MB

english, 2014

8

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD : further delineation of a new chaperone-mediated tubulinopathy

Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben-Zeev, B., Bar-Yosef, O., Marek-Yagel, D., Bertini

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.92 MB

english, 2017

9

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

Oz-Levi, D., Weiss, B., Lahad, A., Greenberger, S., Pode-Shakked, B., Somech, R., Olender, T., Tatarsky, P., Marek-Yagel, D., Pras, E., Anikster, Y., Lancet, D.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 301 KB

english, 2015

10

Mutations in PPCS , Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Iuso, Arcangela, Wiersma, Marit, Schüller, Hans-Joachim, Pode-Shakked, Ben, Marek-Yagel, Dina, Grigat, Mathias, Schwarzmayr, Thomas, Berutti, Riccardo, Alhaddad, Bader, Kanon, Bart, Grzeschik, Nicola

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.30 MB

english, 2018

11

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene

Hagith Yonath, Dina Marek-Yagel, Haike Resnik-Wolf, Almogit Abu-Horvitz, Hagit N. Baris, Mordechai Shohat, Moshe Frydman, Elon Pras

Journal:

Journal of Applied Genetics

Year:

2011

Language:

english

File:

PDF, 142 KB

english, 2011

12

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred

Pode-Shakked, Ben, Marek-Yagel, Dina, Greenberger, Shoshana, Pode-Shakked, Naomi, Pras, Elon, Barzilai, Aviv, Yassin, Saeed, Sidi, Yechezkel, Anikster, Yair

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 873 KB

english, 2015

13

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

Pode-Shakked, Ben, Vivante, Asaf, Barel, Ortal, Padeh, Shai, Marek-Yagel, Dina, Veber, Alvit, Abudi, Shachar, Eliyahu, Aviva, Tirosh, Irit, Shpilman, Shiri, Shril, Shirlee, Hildebrandt, Friedhelm, Sho

Journal:

BMC Medical Genetics

Year:

2019

File:

PDF, 789 KB

2019

14

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

Journal:

Year:

2019

Language:

english

File:

PDF, 7.34 MB

english, 2019

15

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation

Pode-Shakked, Ben, Heimer, Gali, Vilboux, Thierry, Marek-Yagel, Dina, Ben-Zeev, Bruria, Davids, Mariska, Ferreira, Carlos R., Philosoph, Amit Mary, Veber, Alvit, Pode-Shakked, Naomi, Kenet, Gili, Soud

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 3.11 MB

english, 2019

16

A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

Malicdan, M., Vilboux, T., Ben-Zeev, B., Guo, J., Eliyahu, A., Pode-Shakked, B., Dori, A., Kakani, S., Chandrasekharappa, S., Ferreira, C., Shelestovich, N., Marek-Yagel, D., Pri-Chen, H., Blat, I., N

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 248 KB

english, 2017

17

Over representation of the A allele in the IL23R rs1004819 polymorphism in M694V homozygote non-responsive FMF patients

Pras, E, Dahan, S, Epstein, A, Zvi, I, Marek-Yagel, D, Shinar, Y, Lidar, M, Livneh, A

Journal:

Pediatric Rheumatology

Year:

2015

Language:

english

File:

PDF, 262 KB

english, 2015

18

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N.

Journal:

European Journal of Paediatric Neurology

Year:

2019

File:

PDF, 1.89 MB

2019

19

CAOS--Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene

Heimer, G., Sadaka, Y., Israelian, L., Feiglin, A., Ruggieri, A., Marshall, C. R., Scherer, S. W., Ganelin-Cohen, E., Marek-Yagel, D., Tzadok, M., Nissenkorn, A., Anikster, Y., Minassian, B. A., Zeev,

Journal:

Journal of Child Neurology

Year:

2015

Language:

english

File:

PDF, 647 KB

english, 2015

20

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

Pode-Shakked, Ben, Vivante, Asaf, Barel, Ortal, Padeh, Shai, Marek-Yagel, Dina, Veber, Alvit, Abudi, Shachar, Eliyahu, Aviva, Tirosh, Irit, Shpilman, Shiri, Shril, Shirlee, Hildebrandt, Friedhelm, Sho

Journal:

BMC Medical Genetics

Year:

2019

Language:

english

File:

PDF, 789 KB

english, 2019

21

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

Journal:

Arthritis & Rheumatism

Year:

2009

Language:

english

File:

PDF, 65 KB

english, 2009

22

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

Stephen, Joshi, Vilboux, Thierry, Haberman, Yael, Pri-Chen, Hadass, Pode-Shakked, Ben, Mazaheri, Sina, Marek-Yagel, Dina, Barel, Ortal, Di Segni, Ayelet, Eyal, Eran, Hout-Siloni, Goni, Lahad, Avishay,

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 965 KB

english, 2016

23

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

Journal:

Year:

2012

Language:

english

File:

PDF, 458 KB

english, 2012

24

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N.

Journal:

European Journal of Paediatric Neurology

Year:

2019

Language:

english

File:

PDF, 1.89 MB

english, 2019

25

A Novel Mutation in the HCN4 Gene Causes Symptomatic Sinus Bradycardia in Moroccan Jews

AVISHAG LAISH-FARKASH, MICHAEL GLIKSON, DOVRAT BRASS, DINA MAREK-YAGEL, ELON PRAS, NATHAN DASCAL, CHARLES ANTZELEVITCH, EYAL NOF, HAYA REZNIK, MICHAEL ELDAR, DAVID LURIA

Journal:

Journal of Cardiovascular Electrophysiology

Year:

2010

Language:

english

File:

PDF, 364 KB

english, 2010

26

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

Journal:

British Journal of Dermatology

Year:

2010

Language:

english

File:

PDF, 222 KB

english, 2010

27

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

Journal:

Arthritis Care & Research

Year:

2010

Language:

english

File:

PDF, 70 KB

english, 2010

28

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, H

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.95 MB

english, 2016

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