Marios Kambouris

Marios Kambouris

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Marios Kambouris

Marios Kambouris

Publications by authors named "Marios Kambouris"

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22Publications

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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

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.

Case Rep Genet 2016 30;2016:3056053. Epub 2016 Apr 30.

1st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.

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http://dx.doi.org/10.1155/2016/3056053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867054PMC
May 2016

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

Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty.

Horm Res Paediatr 2014 10;81(3):177-81. Epub 2014 Jan 10.

Division of Endocrinology, Metabolism and Diabetes, 1st Department of Pediatrics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.

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http://dx.doi.org/10.1159/000356913DOI Listing
December 2014

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

Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):764-8. Epub 2013 Dec 19.

1st Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.

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http://dx.doi.org/10.1002/ajmg.a.36329DOI Listing
March 2014

Predictive genomics DNA profiling for athletic performance.

Recent Pat DNA Gene Seq 2012 Dec;6(3):229-39

Shafallah Medical Genetics Center, Doha, Qatar.

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December 2012

Target gene discovery in extended families with type 2 diabetes mellitus.

Authors:
Marios Kambouris

Atheroscler Suppl 2005 May;6(2):31-6

Synergene Biotechnology Group, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1016/j.atherosclerosissup.2005.02.006DOI Listing
May 2005

A novel missense Norrie disease mutation associated with a severe ocular phenotype.

J Pediatr Ophthalmol Strabismus 2004 Nov-Dec;41(6):361-3

King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.

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February 2005

A novel KERA mutation associated with autosomal recessive cornea plana.

Ophthalmic Genet 2004 Jun;25(2):147-52

Department of Pediatrics, King Khaled Eye Specialist Hospital P.O. Box 7191 Riyadh 11462 Saudi Arabia.

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http://orbit.dtu.dk/files/119583783/Case_report.pdf
Web Search
http://link.springer.com/content/pdf/10.1186%2Fs12881-015-01
Web Search
http://www.tandfonline.com/doi/full/10.1080/1381681049051439
Publisher Site
http://dx.doi.org/10.1080/13816810490514397DOI Listing
June 2004

Lack of association of lipoprotein lipase gene polymorphisms with coronary artery disease in the Saudi Arab population.

Arch Pathol Lab Med 2003 May;127(5):597-600

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1043/0003-9985(2003)127<0597:LOAOLL>2.0.CO;2DOI Listing
May 2003

Prevalence of the 20210 G-->A prothrombin variant and its association with coronary artery disease in a Middle Eastern Arab population.

Arch Pathol Lab Med 2002 Sep;126(9):1087-90

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1043/0003-9985(2002)126<1087:POTGAP>2.0.CO;2DOI Listing
September 2002