Fady M Mikhail

Summary

Affiliation: University of Alabama at Birmingham
Country: USA

Publications

  1. doi request reprint 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. doi request reprint 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 request reprint 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. doi request reprint 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. doi request reprint The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Genet Med 16:92-100. 2014
  6. doi request reprint 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 request reprint 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
  8. ncbi request reprint 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
  9. doi request reprint 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. doi request reprint 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

Publications15

  1. doi request reprint 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. doi request reprint 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 request reprint 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. doi request reprint 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. doi request reprint The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Genet Med 16:92-100. 2014
    ..2 microdeletions. To date, the distal 22q11.2 microdeletions have been grouped together as a single clinical entity despite the fact that these deletions are variable in size and position depending on the mediating LCR22s...
  6. doi request reprint 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 request reprint 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
    ....
  8. ncbi request reprint 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...
  9. doi request reprint 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. doi request reprint 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. doi request reprint 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
    ....
  12. ncbi request reprint Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene
    Meng Chang Hsiao
    Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
    Hum Mutat 35:891-8. 2014
    ..In conclusion, we show evidence that PATRR17 is a hotspot for pathogenic intragenic deletions within the NF1 gene and suggest a novel replication-dependent mechanism for PATRR-mediated translocation. ..
  13. ncbi request reprint 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...
  14. pmc In vivo regulation of the heme oxygenase-1 gene in humanized transgenic mice
    Junghyun Kim
    Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Kidney Int 82:278-91. 2012
    ..Thus, these bacterial artificial chromosome humanized HO-1 mice are a valuable model to study the human HO-1 gene, providing insight to the in vivo architecture of the gene in acute kidney injury and other diseases...
  15. pmc 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...