Mordechai Shohat

Mordechai Shohat

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Mordechai Shohat

Mordechai Shohat

Publications by authors named "Mordechai Shohat"

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Grandparental genotyping enhances exome variant interpretation.

Am J Med Genet A 2020 Feb 6. Epub 2020 Feb 6.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.61511DOI Listing
February 2020

Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome.

J Matern Fetal Neonatal Med 2020 Jan 12:1-5. Epub 2020 Jan 12.

Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1080/14767058.2020.1712710DOI Listing
January 2020

c.259A>C in the fibrinogen gene of alpha chain () is a fibrinogen with thrombotic phenotype.

Appl Clin Genet 2019 28;12:27-33. Epub 2019 Feb 28.

Cancer Research Center, Wohl Institute of Translational Medicine, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.2147/TACG.S190599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400116PMC
February 2019

Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.

Graefes Arch Clin Exp Ophthalmol 2018 Nov 30;256(11):2157-2164. Epub 2018 Aug 30.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, 91120, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s00417-018-4119-1DOI Listing
November 2018

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Eur J Hum Genet 2016 12 7;24(12):1792-1796. Epub 2016 Sep 7.

Departamento de Bioquımicay Biologıa Molecular, Facultad de Medicina, Instituto Universitario de Oncologıa-IUOPA, Universidad de Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1038/ejhg.2016.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117915PMC
December 2016

Nonvisualization of the Fetal Gallbladder: Can Levels of Gamma-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis?

Fetal Diagn Ther 2016 3;39(1):50-5. Epub 2015 Jun 3.

Helen Schneider Hospital for Women, Rabin Medical Center, Petah Tiqwa, Israel.

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http://dx.doi.org/10.1159/000430440DOI Listing
November 2016

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.

Hum Mutat 2015 Apr 16;36(4):439-42. Epub 2015 Mar 16.

The Raphael Recanati Genetic Institute, Rabin Medical Center, Israel; Sackler School of Medicine, Tel Aviv University, Israel.

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http://dx.doi.org/10.1002/humu.22759DOI Listing
April 2015

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.

Am J Med Genet A 2014 Aug 30;164A(8):1940-6. Epub 2014 Apr 30.

The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.

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http://dx.doi.org/10.1002/ajmg.a.36583DOI Listing
August 2014

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Eur J Hum Genet 2014 Jun 9;22(6):768-75. Epub 2013 Oct 9.

Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023209PMC
June 2014

Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.

J Assist Reprod Genet 2012 Jul 22;29(7):687-92. Epub 2012 Apr 22.

The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah-Tikva, 49100, Israel.

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http://dx.doi.org/10.1007/s10815-012-9765-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401258PMC
July 2012

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

Familial Mediterranean fever--a review.

Genet Med 2011 Jun;13(6):487-98

From the 1Raphael Recanati Genetic Institute, Rabin Medical Center, Felsenstein Medical Research Center, Petah Tikva, Israel.

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http://dx.doi.org/10.1097/GIM.0b013e3182060456DOI Listing
June 2011

Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.

Isr Med Assoc J 2011 Apr;13(4):206-8

Recanati Genetic Institute, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

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April 2011

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

Prenat Diagn 2010 Dec;30(12-13):1131-7

The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.

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http://dx.doi.org/10.1002/pd.2626DOI Listing
December 2010

Familial hydrocephalus with normal cognition and distinctive radiological features.

Am J Med Genet A 2010 Nov;152A(11):2743-8

Schneider Children's Medical Center of Israel, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://dx.doi.org/10.1002/ajmg.a.33688DOI Listing
November 2010

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

Genet Test Mol Biomarkers 2010 Jun;14(3):319-24

Rabin Medical Center, Recanati Institute of Medical Genetics, Petach Tikva, Israel.

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http://www.liebertpub.com/doi/10.1089/gtmb.2009.0089
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http://dx.doi.org/10.1089/gtmb.2009.0089DOI Listing
June 2010

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.

Am J Med Genet A 2009 Dec;149A(12):2700-5

The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.33095
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http://dx.doi.org/10.1002/ajmg.a.33095DOI Listing
December 2009

The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.

Mol Vis 2009 Sep 24;15:1945-50. Epub 2009 Sep 24.

Department of Ophthalmology, Rabin Medical Center, Beilinson Campus, Petah Tiqwa, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751802PMC
September 2009

Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA.

Mol Cytogenet 2009 Mar 14;2:11. Epub 2009 Mar 14.

Department of Human Molecular Genetics & Biochemistry, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1186/1755-8166-2-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660353PMC
March 2009

Typing classical polymorphisms by real-time PCR: analysis of the GPT and ALAD protein polymorphisms in the Jewish populations.

Am J Hum Biol 2008 Jul-Aug;20(4):490-2

Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia.

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http://doi.wiley.com/10.1002/ajhb.20766
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http://dx.doi.org/10.1002/ajhb.20766DOI Listing
November 2008

Thrombophilic polymorphisms in Israel.

Blood Cells Mol Dis 2008 Sep-Oct;41(2):230-3. Epub 2008 Jun 25.

Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia.

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http://dx.doi.org/10.1016/j.bcmd.2008.05.004DOI Listing
November 2008

[CV-METER--a computerized objective assessment for academic promotion].

Harefuah 2008 Aug-Sep;147(8-9):684-8, 751

Raphael Recanati Institute for Medical Genetics, Rabin Medical Center.

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November 2008

Identification of the gene causing long QT syndrome in an Israeli family.

Isr Med Assoc J 2008 Nov;10(11):809-11

Department of Medical Genetics, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

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November 2008

Impact of ethnicity and MTHFR genotype on age at onset of coronary artery disease in women in Israel.

Isr Med Assoc J 2008 Jul;10(7):516-9

Department of Cardiology, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

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July 2008

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

Genet Test 2008 Jun;12(2):289-94

Department of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://www.liebertpub.com/doi/10.1089/gte.2007.0107
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http://dx.doi.org/10.1089/gte.2007.0107DOI Listing
June 2008

Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.

Isr Med Assoc J 2007 Dec;9(12):847-50

Recanti Genetic Institute, Department of Medical Genetics, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

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December 2007

The relationship between perinatal outcome of singleton pregnancies and isolated highly elevated levels of maternal serum human chorionic gonadotropin at mid-gestation.

Isr Med Assoc J 2007 Jul;9(7):509-12

Department of Pediatrics, Dana Children's Hospital, Tel Aviv, Israel.

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July 2007

Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome.

Int J Neuropsychopharmacol 2007 Jun 31;10(3):301-8. Epub 2006 May 31.

The Behavioral Neurogenetics Center, Feinberg Child Study Center, Schneider Children's Medical Center of Israel, Petah Tiqwa 49202, Israel.

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http://dx.doi.org/10.1017/S1461145706006699DOI Listing
June 2007

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

Eur J Hum Genet 2007 Feb 8;15(2):242-5. Epub 2006 Nov 8.

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://dx.doi.org/10.1038/sj.ejhg.5201733DOI Listing
February 2007

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

Eur J Hum Genet 2007 Feb 6;15(2):250-3. Epub 2006 Dec 6.

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://dx.doi.org/10.1038/sj.ejhg.5201750DOI Listing
February 2007

Amniotic trisomy 11 mosaicism--is it a benign finding?

Prenat Diagn 2006 Sep;26(9):778-81

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.

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http://doi.wiley.com/10.1002/pd.1501
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http://dx.doi.org/10.1002/pd.1501DOI Listing
September 2006

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

Ann Neurol 2006 Aug;60(2):214-22

Department of Medical Genetics, Schneider Children's Medical Center of Israel and Rabin Medical Center, Petah Tikva, Israel.

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http://dx.doi.org/10.1002/ana.20902DOI Listing
August 2006

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.

Biochem Biophys Res Commun 2006 Apr 23;342(4):1130-6. Epub 2006 Feb 23.

Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.bbrc.2006.02.078DOI Listing
April 2006

BCL6 is regulated by p53 through a response element frequently disrupted in B-cell non-Hodgkin lymphoma.

Blood 2006 Feb 25;107(4):1599-607. Epub 2005 Oct 25.

Pediatric Hematology-Oncology, Safra Children's Hospital, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel.

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http://dx.doi.org/10.1182/blood-2005-04-1629DOI Listing
February 2006

Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.

Pediatrics 2006 Feb 3;117(2):e322-7. Epub 2006 Jan 3.

Institute for Endocrinology and Diabetes, Schneider Children's Medical Center of Israel, Petah Tiqwa 49202, Israel.

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http://dx.doi.org/10.1542/peds.2005-1973DOI Listing
February 2006

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.

Mol Genet Metab 2004 Nov;83(3):199-206

Medical Genetics Institute, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.07.009DOI Listing
November 2004

Prenatal diagnosis in Li-Fraumeni syndrome.

J Pediatr Hematol Oncol 2004 Sep;26(9):541-5

Molecular Oncology, Felsenstein Medical Research Center, Petah Tikva, Israel.

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http://pdfs.journals.lww.com/jpho-online/2004/09000/Prenatal
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http://dx.doi.org/10.1097/01.mph.0000139452.45209.adDOI Listing
September 2004

844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world.

Anthropol Anz 2004 Jun;62(2):147-55

Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia.

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June 2004

Myotonic dystrophy--no evidence for preferential transmission of the mutated allele: a prenatal analysis.

Am J Med Genet A 2004 May;127A(1):50-3

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20675DOI Listing
May 2004

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.

Mol Genet Metab 2004 May;82(1):27-32

Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.01.020DOI Listing
May 2004

Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome.

Am J Med Genet B Neuropsychiatr Genet 2004 Apr;126B(1):99-105

Behavioral Genetics Clinic, Schneider Children's Medical Center of Israel, 14 Kaplan Street, PO Box 559, Petah Tiqwa 49202, Israel.

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http://dx.doi.org/10.1002/ajmg.b.20124DOI Listing
April 2004

Familial central precocious puberty suggests autosomal dominant inheritance.

J Clin Endocrinol Metab 2004 Apr;89(4):1794-800

Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.

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http://dx.doi.org/10.1210/jc.2003-030361DOI Listing
April 2004

Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults.

Isr Med Assoc J 2003 Dec;5(12):868-72

Department of Medicine C, Rabin Medical Center (Beilinson Campus), Petah Tiqva, Israel.

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December 2003

Brachyolmia and spinal stenosis.

Am J Med Genet A 2003 Jul;120A(2):272-5

Rheumatology Unit, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20204DOI Listing
July 2003

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death.

Am J Med Genet A 2003 Jun;119A(2):200-6

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20133DOI Listing
June 2003

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?

Am J Med Genet 2002 Nov;113(1):78-81

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://doi.wiley.com/10.1002/ajmg.10723
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http://dx.doi.org/10.1002/ajmg.10723DOI Listing
November 2002

Plasma homocysteine, methylenetetrahydrofolate reductase genotypes, and age at onset of symptoms of myocardial ischemia.

Am J Cardiol 2002 Apr;89(8):919-23

Department of Cardiology, Rabin Medical Center-Beilinson Campus and Felsenstein Medical Research Center, Petah Tiqva, Israel.

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http://dx.doi.org/10.1016/s0002-9149(02)02239-7DOI Listing
April 2002