Publications by authors named "Hatem El-Shanti"

56Publications

A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a Variant.

J Endocr Soc 2020 Aug 8;4(8):bvaa088. Epub 2020 Jul 8.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1210/jendso/bvaa088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7417871PMC
August 2020

Congenital glucose-galactose malabsorption: A case report with a novel mutation.

Clin Case Rep 2019 Jan 11;7(1):51-53. Epub 2018 Nov 11.

Department of Pediatrics, School of Medicine The university of Jordan Amman Jordan.

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http://doi.wiley.com/10.1002/ccr3.1913
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http://dx.doi.org/10.1002/ccr3.1913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333054PMC
January 2019

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.

Clin Case Rep 2016 Dec 21;4(12):1125-1131. Epub 2016 Oct 21.

Pathology-GeneticsSidra Medical and Research CenterDohaQatar; GeneticsYale University School of MedicineNew HavenConnecticutUSA.

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http://dx.doi.org/10.1002/ccr3.705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134130PMC
December 2016

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

PLoS Genet 2015 Mar 12;11(3):e1005022. Epub 2015 Mar 12.

Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America; Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Molecular and Cellular Biology, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Neuroscience, The University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357451PMC
March 2015

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.

Clin Case Rep 2014 Oct 25;2(5):201-5. Epub 2014 Jul 25.

Shafallah Medical Genetics Center Doha, Qatar ; Carver College of Medicine, University of Iowa Iowa City, Iowa.

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http://dx.doi.org/10.1002/ccr3.94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302626PMC
October 2014

T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.

Sci Rep 2014 Dec 8;4:7351. Epub 2014 Dec 8.

1] Lebanese American University, School of Medicine, Beirut 1102 2801, Lebanon [2] Harvard School of Public Health, Boston MA 02215, USA.

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http://dx.doi.org/10.1038/srep07351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376673PMC
December 2014

A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.

Clin Exp Rheumatol 2014 Nov-Dec;32(6):956-8. Epub 2014 Jun 24.

Section of Pediatric Rheumatology, Hamad General Hospital (HGH), Doha, Qatar.

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March 2015

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.

Orphanet J Rare Dis 2014 Jun 7;9:80. Epub 2014 Jun 7.

Qatar Biomedical Research Institute, Medical Genetics Center, 69 Lusail Street, West Bay Area, P,O, Box: 33123, Doha, Qatar.

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http://dx.doi.org/10.1186/1750-1172-9-80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070100PMC
June 2014

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

PLoS One 2013 3;8(12):e80737. Epub 2013 Dec 3.

The University of Iowa, Iowa City, Iowa, United States of America ; Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America ; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080737PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849077PMC
August 2014

Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.

Rheumatology (Oxford) 2011 Dec 22;50(12):2306-10. Epub 2011 Oct 22.

Faculte des Sciences Biologiques, Universite des Sciences et de laTechnologie Houari Boumediene, Alger.

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http://dx.doi.org/10.1093/rheumatology/ker328DOI Listing
December 2011

Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype.

Arthritis Rheum 2008 Oct;58(10):3264-9

Department of Medical Microbiology and Immunology and Pediatrics, University of Wisconsin, Madison, WI 53706, USA.

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http://dx.doi.org/10.1002/art.23942DOI Listing
October 2008

Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS).

Am J Med Genet A 2008 Sep;146A(17):2227-33

Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.

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http://dx.doi.org/10.1002/ajmg.a.32363DOI Listing
September 2008

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

Am J Hum Genet 2007 Oct 20;81(4):673-83. Epub 2007 Aug 20.

Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, USA.

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http://dx.doi.org/10.1086/520961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227919PMC
October 2007

Autoinflammatory bone disorders.

Curr Opin Rheumatol 2007 Sep;19(5):492-8

Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1097/BOR.0b013e32825f5492DOI Listing
September 2007

Familial mediterranean Fever and renal disease.

Saudi J Kidney Dis Transpl 2003 Jul-Sep;14(3):378-85

University of Iowa Hospitals and Clinics, Department of Pediatrics, Division of Medical Genetics, USA.

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October 2012

Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.

Clin Orthop Relat Res 2007 Sep;462:11-9

Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1097/BLO.0b013e3180986d73DOI Listing
September 2007

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

Arthritis Rheum 2007 Mar;56(3):960-4

Salmanyia Medical Complex, Manama, Kingdom of Bahrain.

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http://dx.doi.org/10.1002/art.22431DOI Listing
March 2007

Familial mediterranean fever in Arabs.

Lancet 2006 Mar;367(9515):1016-24

Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1016/S0140-6736(06)68430-4DOI Listing
March 2006

Consanguinity: implications for practice, research, and policy.

Lancet 2006 Mar;367(9515):970-1

Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, ON M5G 1X8, Canada.

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http://dx.doi.org/10.1016/S0140-6736(06)68406-7DOI Listing
March 2006

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

J Mol Med (Berl) 2006 Mar 31;84(3):226-31. Epub 2005 Dec 31.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek N1619.01, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00109-005-0015-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909111PMC
March 2006

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

Brain Dev 2006 Jul 10;28(6):353-7. Epub 2006 Jan 10.

Department of Pediatrics, Division of Medical Genetics, University of Iowa, UIHC, 2615 JCP, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.braindev.2005.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143173PMC
July 2006

Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.

Saudi Med J 2005 Jul;26(7):1061-4

Department of Biochemistry and Medical Laboratory Science, Jordan University of Science and Technology, Irbid, Jordan.

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July 2005

The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.

Semin Arthritis Rheum 2005 Jun;34(6):813-8

Department of Pediatrics, Faculty of Medicine, University of Jordan, Amman.

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http://dx.doi.org/10.1016/j.semarthrit.2005.01.010DOI Listing
June 2005

Further delineation of El-Shanti syndrome.

Authors:
Hatem El-Shanti

Eur J Pediatr 2004 Dec;163(12):761-2

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http://dx.doi.org/10.1007/s00431-004-1535-5DOI Listing
December 2004

Radiological findings in Wolfram syndrome.

Saudi Med J 2004 May;25(5):638-41

Department of Radiology, Jordan University Hospital, Amman, Jordan.

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May 2004

Effects of short term metformin administration on androgens in diabetic men.

Saudi Med J 2004 Jan;25(1):75-8

National Center for Diabetes Endocrinology and Genetics, Jordan University Hospital, Amman, Jordan.

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January 2004

Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.

Saudi Med J 2003 Oct;24(10):1055-9

Department of Biochemistry, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan.

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October 2003

The pattern of peripheral blood chromosomal abnormalities in Northern Jordan.

Saudi Med J 2002 Dec;23(12):1552-4

Division of Cytogenetics, Department of Pediatrics (El-Shanti), Jordan University of Science & Technology, Irbid, Jordan.

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December 2002

Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome.

Eur J Pediatr 2003 Jan 28;162(1):36-40. Epub 2002 Nov 28.

National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan.

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http://dx.doi.org/10.1007/s00431-002-1108-4DOI Listing
January 2003

Linkage analysis of a large inbred family with congenital megaloblastic anemia.

Saudi Med J 2002 Oct;23(10):1251-6

Department of Biochemistry, Jordan University of Science and Technology, Irbid, Jordan.

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October 2002

Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.

Am J Med Genet 2002 May;115(1):61-5

National Center for Diabetes, Endocrinology and Genetics, University of Jordan, Amman.

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http://dx.doi.org/10.1002/ajmg.10345DOI Listing
May 2002

Genotype/phenotype correlations in Arab patients with familial Mediterranean fever.

Semin Arthritis Rheum 2002 Jun;31(6):371-6

Department of Pediatrics, Faculty of Medicine, University of Jordan, Amman.

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http://dx.doi.org/10.1053/sarh.2002.32551DOI Listing
June 2002

Diversity in polyp pathology and distribution of Familial Juvenile Polyposis Syndrome.

Saudi Med J 2002 Mar;23(3):328-31

Department of General Surgery, Jordan University of Science and Technology, Irbid.

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March 2002