Publications by authors named "Ben Pode-Shakked"

44Publications

Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation.

Acta Haematol 2020 Sep 25:1-5. Epub 2020 Sep 25.

Israeli National Hemophilia Center and Thrombosis Unit and Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1159/000509968DOI Listing
September 2020

Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.

Eur J Med Genet 2020 Jul 13;63(7):103927. Epub 2020 Apr 13.

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

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http://dx.doi.org/10.1016/j.ejmg.2020.103927DOI Listing
July 2020

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

Eur J Med Genet 2020 Jun 6;63(6):103901. Epub 2020 Mar 6.

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

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http://dx.doi.org/10.1016/j.ejmg.2020.103901DOI Listing
June 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

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Pediatr Nephrol 2019 09 17;34(9):1607-1613. Epub 2019 Apr 17.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA.

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http://link.springer.com/10.1007/s00467-019-04256-0
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http://dx.doi.org/10.1007/s00467-019-04256-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660980PMC
September 2019

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

Eur J Med Genet 2019 Mar 10;62(3):167-171. Epub 2018 Jul 10.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.004DOI Listing
March 2019

Phenotype variability in Hajdu-Cheney syndrome.

Eur J Med Genet 2019 Jan 23;62(1):35-38. Epub 2018 Apr 23.

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, Tel-Hashomer, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.015DOI Listing
January 2019

LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.

J Ultrasound Med 2018 Jul 13;37(7):1827-1833. Epub 2018 Jan 13.

Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1002/jum.14520DOI Listing
July 2018

Severe fetal hydronephrosis: the added value of associated congenital anomalies of the kidneys and urinary tract (CAKUT) in the prediction of postnatal outcome.

Prenat Diagn 2018 02 7;38(3):179-183. Epub 2018 Feb 7.

Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1002/pd.5206DOI Listing
February 2018

Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?

Eur J Med Genet 2017 Jun 6;60(6):340-344. Epub 2017 Apr 6.

Institute of Rare Diseases & Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.005DOI Listing
June 2017

Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.

Mol Genet Metab Rep 2017 Mar 8;10:5-7. Epub 2016 Dec 8.

Department of Pediatric Intensive Care, 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.2016.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154967PMC
March 2017

Nonobstructive Diffuse Dilated Bowel Loops: Prenatal Diagnosis, Fetal Characteristics and Neonatal Outcomes.

J Ultrasound Med 2017 Jan 8;36(1):149-154. Epub 2016 Dec 8.

Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.

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http://dx.doi.org/10.7863/ultra.16.01097DOI Listing
January 2017

Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.

Prenat Diagn 2016 Nov 25;36(11):1027-1032. Epub 2016 Oct 25.

Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel HaShomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://doi.wiley.com/10.1002/pd.4926
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http://dx.doi.org/10.1002/pd.4926DOI Listing
November 2016

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

J Clin Immunol 2016 11 12;36(8):801-809. Epub 2016 Oct 12.

Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Hashomer, Ramat Gan, Israel.

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http://link.springer.com/10.1007/s10875-016-0340-z
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http://dx.doi.org/10.1007/s10875-016-0340-zDOI Listing
November 2016

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

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

Fetal Pediatr Pathol 2015 16;34(6):400-6. Epub 2015 Oct 16.

c Sackler Faculty of Medicine, Tel-Aviv University , Tel-Aviv , Israel.

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http://www.tandfonline.com/doi/full/10.3109/15513815.2015.10
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http://dx.doi.org/10.3109/15513815.2015.1095261DOI Listing
August 2016

Costeff syndrome: clinical features and natural history.

J Neurol 2014 Dec 9;261(12):2275-82. Epub 2014 Sep 9.

Parkinson Disease and Movement Disorders Clinic, Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, 52621, Israel,

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http://dx.doi.org/10.1007/s00415-014-7481-xDOI Listing
December 2014

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

Waterhouse Friderichsen syndrome complicating fulminant Enterobacter cloacae sepsis in a preterm infant: the unresolved issue of corticosteroids.

Fetal Pediatr Pathol 2014 Apr 13;33(2):104-8. Epub 2013 Dec 13.

1 Department of Neonatology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.

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http://www.tandfonline.com/doi/full/10.3109/15513815.2013.86
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http://dx.doi.org/10.3109/15513815.2013.864350DOI Listing
April 2014

Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study.

Mol Genet Metab 2013 12;110 Suppl:S66-70. Epub 2013 Oct 12.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130033
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http://dx.doi.org/10.1016/j.ymgme.2013.10.006DOI Listing
July 2014

Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.

J Pediatr Gastroenterol Nutr 2014 Jan;58(1):57-60

*Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer †Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel ‡University of Istanbul, Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Metabolic Diseases, Istanbul, Turkey §Department of Biological Resources Engineering, University of Maryland, College Park ||Pediatric Stem Cell Research Institute, Edmond & Lily Safra Children's Hospital, Sheba Medical Center ¶Pediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children's Hospital.

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http://dx.doi.org/10.1097/MPG.0000000000000114DOI Listing
January 2014

McArdle disease: a novel mutation in Jewish families from the Caucasus region.

Mol Genet Metab 2012 Jul 23;106(3):379-81. Epub 2012 Apr 23.

Day Hospitalization Unit, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2012.04.012DOI Listing
July 2012

The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.

Mol Genet Metab 2011 Feb 20;102(2):157-60. Epub 2010 Oct 20.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2010.10.007DOI Listing
February 2011