Publications by authors named "Bassem Bejjani"

74Publications

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):7687-90

Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland 2Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

View Article and Find Full Text PDF
December 2015

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.

Invest Ophthalmol Vis Sci 2013 Mar 1;54(3):2207-15. Epub 2013 Mar 1.

Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

View Article and Find Full Text PDF
March 2013

Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme.

Genet Test Mol Biomarkers 2011 Sep 10;15(9):579-86. Epub 2011 Apr 10.

Biomedical Quality Assurance Research Unit, Department of Human Genetics, University of Leuven, Leuven, Belgium.

View Article and Find Full Text PDF
September 2011

Development of new postnatal diagnostic methods for chromosome disorders.

Semin Fetal Neonatal Med 2011 Apr 26;16(2):114-8. Epub 2010 Nov 26.

Signature Genomic Laboratories, Spokane, WA 99207, USA.

View Article and Find Full Text PDF
April 2011

The use of microarray technology for cytogenetics.

Methods Mol Biol 2010 ;632:125-39

Signature Genomic Laboratories, Spokane, WA, USA.

View Article and Find Full Text PDF
June 2010

Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.

J Ultrasound Med 2009 Dec;28(12):1735-42

Department of Obstetrics and Gynecology, New York University School of Medicine, 550 First Ave, NBV-9N26, New York, NY 10016, USA.

View Article and Find Full Text PDF
December 2009

Effects of ozone exposure during microarray posthybridization washes and scanning.

J Mol Diagn 2009 Nov 18;11(6):590-7. Epub 2009 Sep 18.

Signature Genomic Laboratories, 2820 N. Astor St., Spokane, WA 99207, USA.

View Article and Find Full Text PDF
November 2009

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

Am J Med Genet A 2009 Oct;149A(10):2122-8

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

View Article and Find Full Text PDF
October 2009

Using microarray-based molecular cytogenetic methods to identify chromosome abnormalities.

Pediatr Ann 2009 Aug;38(8):440-7

Signature Genomic Laboratories, Spokane, WA 99207, USA.

View Article and Find Full Text PDF
August 2009

Human anterior chamber angle development without cell death or macrophage involvement.

Mol Vis 2008 26;14:2492-8. Epub 2008 Dec 26.

College of Medicine, University of Illinois at Chicago, Chicago, IL, USA.

View Article and Find Full Text PDF
March 2009

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

Invest Ophthalmol Vis Sci 2009 Apr 14;50(4):1531-9. Epub 2008 Nov 14.

Basic Medical Sciences Program, Washington, Wyoming, Alaska, Montana, and Idaho, Washington State University, Spokane, Washington 99210-1495, USA.

View Article and Find Full Text PDF
April 2009

Clinical utility of contemporary molecular cytogenetics.

Annu Rev Genomics Hum Genet 2008 ;9:71-86

Signature Genomic Laboratories, LLC, Spokane, Washington 99202, USA.

View Article and Find Full Text PDF
December 2008

Williams syndrome in a preterm infant with phenotype of Alagille syndrome.

Am J Med Genet A 2008 Sep;146A(18):2407-11

Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

View Article and Find Full Text PDF
September 2008

In the middle of it all: a centered approach to chromosome analysis.

Expert Opin Med Diagn 2008 Feb;2(2):221-9

Signature Genomic Laboratories, 120 N Pine St, Spokane, WA 99202, USA +1 509 474 6840 ; +1 509 474 6839 ;

View Article and Find Full Text PDF
February 2008

The clinical utility of enhanced subtelomeric coverage in array CGH.

Am J Med Genet A 2007 Aug;143A(16):1850-7

Signature Genomic Laboratories, LLC, Spokane, Washington 99202, USA.

View Article and Find Full Text PDF
August 2007

Application of array-based comparative genomic hybridization to clinical diagnostics.

J Mol Diagn 2006 Nov;8(5):528-33

Signature Genomic Laboratories, LLC, 44 W. 6th Ave., Suite 202, Spokane, WA 99204, USA.

View Article and Find Full Text PDF
November 2006

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.

Invest Ophthalmol Vis Sci 2006 Apr;47(4):1486-90

Health Research and Education Center, Washington State University Spokane, Spokane, Washington 99210-1495, USA.

View Article and Find Full Text PDF
April 2006

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

BMC Med Genet 2006 Feb 10;7. Epub 2006 Feb 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

View Article and Find Full Text PDF
February 2006

Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes.

Exp Eye Res 2006 Jan 24;82(1):24-32. Epub 2005 Jun 24.

Department of Ophthalmology and Visual Sciences, University of Illinois at Chigago, 1855 West Taylor Street, M/C 648, Chicago, IL 60612, USA.

View Article and Find Full Text PDF
January 2006

Array-based comparative genomic hybridization in clinical diagnosis.

Expert Rev Mol Diagn 2005 May;5(3):421-9

Signature Genomic Laboratories, 44 West 6th Avenue, Suite 202, Spokane, WA 99204, USA.

View Article and Find Full Text PDF
May 2005

Molecular basis of Peters anomaly in Saudi Arabia.

Ophthalmic Genet 2004 Dec;25(4):257-70

Department of Ophthalmology and Visual Sciences and Pathology, University of Illinois College of Medicine, Chicago, USA.

View Article and Find Full Text PDF
December 2004

Expanding the phenotype of alveolar capillary dysplasia (ACD).

J Pediatr 2004 Nov;145(5):646-51

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

View Article and Find Full Text PDF
November 2004

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

Ophthalmic Genet 2004 Mar;25(1):3-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article and Find Full Text PDF
March 2004

A cytogeneticist's perspective on genomic microarrays.

Hum Reprod Update 2004 May-Jun;10(3):221-6

Health Research and Education Center, Washington State University Spokane, Sacred Heart Medical Center, and Signature Genomic Laboratories, Spokane, Washington, USA.

View Article and Find Full Text PDF
September 2004

Determination of 3-keto-4-ene steroids and their hydroxylated metabolites catalyzed by recombinant human cytochrome P450 1B1 enzyme using gas chromatography-mass spectrometry with trimethylsilyl derivatization.

J Chromatogr B Analyt Technol Biomed Life Sci 2003 Jul;791(1-2):127-35

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

View Article and Find Full Text PDF
July 2003

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

Am J Med Genet A 2003 Apr;118A(2):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Room S434, One Baylor Plaza, Houston, TX 77030, USA.

View Article and Find Full Text PDF
April 2003

Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes.

Exp Eye Res 2002 Sep;75(3):249-57

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

View Article and Find Full Text PDF
September 2002

Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

Am J Med Genet 2002 Sep;111(4):362-5

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article and Find Full Text PDF
September 2002

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.

Am J Med Genet 2002 Apr;109(2):121-4

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article and Find Full Text PDF
April 2002