Fady M Mikhail

Summary

Affiliation: University of Alabama at Birmingham
Country: USA

Publications

  1. ncbi Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, 35294, USA
    Am J Med Genet A 155:2386-96. 2011
  2. ncbi Distal 22q11.2 microduplication encompassing the BCR gene
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:3075-81. 2008
  3. ncbi A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 143:2178-84. 2007
  4. ncbi Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Am J Med Genet A 146:2937-43. 2008
  5. ncbi Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
    Rachel D Burnside
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294 0024, USA
    Am J Med Genet A 149:1516-22. 2009
  6. ncbi A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics
    Rachel D Burnside
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294-0024, USA
    Am J Med Genet A 146:1221-4. 2008
  7. ncbi Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
    Am J Med Genet A 143:1760-6. 2007
  8. ncbi Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction
    Val Zvereff
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Genet Test Mol Biomarkers 14:505-10. 2010
  9. ncbi Use of array comparative genome hybridization in orofacial clefting
    Carlos J Gallego
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    J Craniofac Surg 21:1591-4. 2010
  10. ncbi Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Pediatr Neurol 45:274-8. 2011

Collaborators

Detail Information

Publications12

  1. ncbi Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, 35294, USA
    Am J Med Genet A 155:2386-96. 2011
    ....
  2. ncbi Distal 22q11.2 microduplication encompassing the BCR gene
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:3075-81. 2008
    ..2 can mediate both deletions and duplications in this genomic region. Both deletions and duplication of this region present with subtle clinical features including mild to moderate mental retardation, DD, and mild dysmorphic features...
  3. ncbi A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 143:2178-84. 2007
    ..92 Mb in size and to span approximately 20 genes. This microdeletion region is flanked by LCR clusters containing several modules with a very high degree of sequence homology (>95%), and therefore could play a causal role in its origin...
  4. ncbi Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Am J Med Genet A 146:2937-43. 2008
    ..We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region...
  5. ncbi Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
    Rachel D Burnside
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294 0024, USA
    Am J Med Genet A 149:1516-22. 2009
    ....
  6. ncbi A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics
    Rachel D Burnside
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294-0024, USA
    Am J Med Genet A 146:1221-4. 2008
  7. ncbi Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
    Am J Med Genet A 143:1760-6. 2007
    ..As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes...
  8. ncbi Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction
    Val Zvereff
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Genet Test Mol Biomarkers 14:505-10. 2010
    ....
  9. ncbi Use of array comparative genome hybridization in orofacial clefting
    Carlos J Gallego
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    J Craniofac Surg 21:1591-4. 2010
    ..Array comparative genome hybridization should be considered when the suspicion for a genetic etiology of the clefting remains strong despite a normal cytogenetic analysis...
  10. ncbi Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Pediatr Neurol 45:274-8. 2011
    ..Our patient, with a smaller deletion that the 2 previously reported cases, can help narrow the critical region for PNH in association with the 1p36 deletion. Several potential candidate genes are discussed...
  11. ncbi Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)
    Fady M Mikhail
    Department of Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 140:1647-54. 2006
    ..We compare the clinical features of our patient with those previously reported to further delineate the phenotype of complete trisomy 17p syndrome...
  12. ncbi Endoscopic ultrasound and endobronchial ultrasound-guided fine-needle aspiration of deep-seated lymphadenopathy: Analysis of 1338 cases
    Amberly L Nunez
    Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Cytojournal 9:14. 2012
    ..The secondary aims were to establish the utility in the diagnosis of lymphoma and to determine the number of passes required to obtain adequate cellularity for flow cytometric analysis...