Publications by authors named "Dina Marek-Yagel"

26Publications

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

Mol Genet Metab Rep 2020 Dec 15;25:100631. Epub 2020 Aug 15.

Metabolic Disease Unit, Edmond and Lily Safra Children's hospital, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451421PMC
December 2020

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.

Hum Mutat 2020 Feb 15;41(2):476-486. Epub 2019 Nov 15.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel.

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http://dx.doi.org/10.1002/humu.23945DOI Listing
February 2020

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

Mol Genet Metab 2019 Sep - Oct;128(1-2):151-161. Epub 2019 Aug 14.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.08.003DOI Listing
April 2020

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

Eur J Med Genet 2015 Dec 27;58(12):685-8. Epub 2015 Oct 27.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejmg.2015.10.012DOI Listing
December 2015

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

J Child Neurol 2015 Nov 20;30(13):1749-56. Epub 2015 Apr 20.

Pediatric Neurology Unit, Edmond and Lily Children's Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073815579708DOI Listing
November 2015

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

Mol Genet Metab Rep 2014 17;1:170-175. Epub 2014 Apr 17.

Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.ymgmr.2014.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121326PMC
April 2014

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

J Appl Genet 2011 Nov 17;52(4):437-41. Epub 2011 May 17.

The Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1007/s13353-011-0052-2DOI Listing
November 2011

A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.

J Cardiovasc Electrophysiol 2010 Dec;21(12):1365-72

Heart Institute, Sheba Medical Center, Tel Hashomer, Israel Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/j.1540-8167.2010.01844.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005590PMC
December 2010

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.

Arthritis Care Res (Hoboken) 2010 Sep;62(9):1294-8

Sheba Medical Center, Ramat Gan, and Tel Aviv University, Ramat Aviv, Israel.

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http://dx.doi.org/10.1002/acr.20213DOI Listing
September 2010

Clinical disease among patients heterozygous for familial Mediterranean fever.

Arthritis Rheum 2009 Jun;60(6):1862-6

Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel, and Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.

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http://dx.doi.org/10.1002/art.24570DOI Listing
June 2009