Publications by authors named "Bassem A Bejjani"

70Publications

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.

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http://dx.doi.org/10.1167/iovs.15-17538DOI Listing
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.

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http://dx.doi.org/10.1167/iovs.13-11592DOI Listing
March 2013

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Mol Vis 2011 Mar 30;17:827-43. Epub 2011 Mar 30.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081799PMC
March 2011

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.

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http://dx.doi.org/10.1089/gtmb.2011.0015DOI Listing
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.

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http://dx.doi.org/10.1016/j.siny.2010.11.001DOI Listing
April 2011

The use of microarray technology for cytogenetics.

Methods Mol Biol 2010 ;632:125-39

Signature Genomic Laboratories, Spokane, WA, USA.

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http://dx.doi.org/10.1007/978-1-60761-663-4_8DOI Listing
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.

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http://dx.doi.org/10.7863/jum.2009.28.12.1735DOI Listing
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.

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http://dx.doi.org/10.2353/jmoldx.2009.090009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765759PMC
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.

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http://dx.doi.org/10.1002/ajmg.a.32992DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768228PMC
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.

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http://dx.doi.org/10.3928/00904481-20090723-08DOI Listing
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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610295PMC
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.

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http://dx.doi.org/10.1167/iovs.08-2173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547351PMC
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.

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http://dx.doi.org/10.1146/annurev.genom.9.081307.164207DOI Listing
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.

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http://dx.doi.org/10.1002/ajmg.a.32356DOI Listing
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 ;

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http://dx.doi.org/10.1517/17530059.2.2.221DOI Listing
February 2008

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.

Am J Med Genet C Semin Med Genet 2007 Nov;145C(4):335-45

Signature Genomic Laboratories, LLC, 120 N Pine Street, Ste 242C, Spokane, WA 99202, USA.

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http://dx.doi.org/10.1002/ajmg.c.30152DOI Listing
November 2007

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.

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http://dx.doi.org/10.1002/ajmg.a.31842DOI Listing
August 2007

Detection of low-level mosaicism by array CGH in routine diagnostic specimens.

Am J Med Genet A 2006 Dec;140(24):2757-67

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

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http://dx.doi.org/10.1002/ajmg.a.31539DOI Listing
December 2006

Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.

Methods Mol Med 2006 ;128:23-31

Health Research and Education Center, Washington State University, Spokane, WA, USA.

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http://dx.doi.org/10.1007/978-1-59745-159-8_3DOI Listing
December 2006

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1876176PMC
http://dx.doi.org/10.2353/jmoldx.2006.060029DOI Listing
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.

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http://dx.doi.org/10.1167/iovs.05-0763DOI Listing
April 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.

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http://dx.doi.org/10.1016/j.exer.2005.04.016DOI Listing
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.

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http://dx.doi.org/10.1586/14737159.5.3.421DOI Listing
May 2005

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.

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http://dx.doi.org/10.1016/j.jpeds.2004.06.081DOI Listing
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.

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http://dx.doi.org/10.1076/opge.25.1.3.28999DOI Listing
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.

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http://dx.doi.org/10.1093/humupd/dmh022DOI Listing
September 2004

Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol.

Carcinogenesis 2003 Jul 5;24(7):1247-55. Epub 2003 Jun 5.

Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe St, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1093/carcin/bgg088DOI Listing
July 2003

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.

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http://dx.doi.org/10.1016/s1570-0232(03)00228-9DOI Listing
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.

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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.

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September 2002

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

Am J Med Genet 2002 Nov;112(4):384-9

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

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http://dx.doi.org/10.1002/ajmg.10659DOI Listing
November 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.

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http://dx.doi.org/10.1002/ajmg.10566DOI Listing
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.

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http://dx.doi.org/10.1002/ajmg.10321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893211PMC
April 2002

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

Am J Med Genet 2002 Feb;108(1):69-74

Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon, France.

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http://dx.doi.org/10.1002/ajmg.10222DOI Listing
February 2002