Physician
Medical Genetics
Dr. Bassem A. Bejjani, MD
|
|
Give Review
Doctor Bassem A. Bejjani, MD is an expert in the field of Medical Genetics. He graduated from Baylor College of Medicine. Bassem A. Bejjani, MD is also published. He has 85 publications published. The lastest publication: "Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.'
Publications
- Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.
- Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.
- Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.
- Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
- Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes.
- Determination of 3-keto-4-ene steroids and their hydroxylated metabolites catalyzed by recombinant human cytochrome P450 1B1 enzyme using gas chromatography-mass spect...
- Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol.
- Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
- A cytogeneticist''s perspective on genomic microarrays.
- Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.
- Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?
- Array-based comparative genomic hybridization in clinical diagnosis.
- Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes.
- Developing a sustainable process to provide quality control materials for genetic testing.
- Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
- Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization.
- Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
- Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
- Expanding the phenotype of alveolar capillary dysplasia (ACD).
- Application of array-based comparative genomic hybridization to clinical diagnostics.
- Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.
- Detection of low-level mosaicism by array CGH in routine diagnostic specimens.
- Clinical utility of contemporary molecular cytogenetics.
- Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
- Human anterior chamber angle development without cell death or macrophage involvement.
- Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global...
- Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
- aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
- Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.
- Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
- Using microarray-based molecular cytogenetic methods to identify chromosome abnormalities.
- Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.
- Effects of ozone exposure during microarray posthybridization washes and scanning.
- Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance com...
- Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.
- Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
- Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
- Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
- The use of microarray technology for cytogenetics.
- Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
- Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testing.
- The clinical utility of enhanced subtelomeric coverage in array CGH.
- A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
- Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
- [An analysis of the fundus changes in families with high myopia].
- The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
- The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
- Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
- Williams syndrome in a preterm infant with phenotype of Alagille syndrome.
- Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
- Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
- Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
- Development of new postnatal diagnostic methods for chromosome disorders.
- Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme.
- Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
- Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
- Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
- Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.
- High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with ...
- Identification of novel suggestive loci for high-grade myopia in Polish families.
- Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
- Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
- Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization.
- Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
- Array comparative genomic hybridization in global developmental delay.
- Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2.
- Medical applications of array CGH and the transformation of clinical cytogenetics.
- Pure trisomy 10p involving an isochromosome 10p.
- Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modi...
- Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytoge...
- A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.
- Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
- Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
- Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
- Molecular basis of Peters anomaly in Saudi Arabia.
- Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.
- Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.
- Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
- High-resolution human genome scanning using whole-genome BAC arrays.
- The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD).
- Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.
- Clinical findings and linkage studies in familial tuberous sclerosis.
- Genetic disorders that masquerade as multiple sclerosis.
Schools
American University of Beirut Faculty of Medicine
University Of Nc Hospital
Baylor
Boston University
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
-
Baylor College of Medicine -
University of North Carolina Hospitals -
American University of Beirut Faculty of Medicine
Helpful Reviews
Similar Doctors
|
|
Kevin Emah |