Ghada M H Abdel-Salam

Summary

Publications

  1. doi request reprint Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 161:1875-81. 2013
  2. pmc A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
    Ghada M H Abdel-Salam
    Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Am J Med Genet A 158:2788-96. 2012
  3. doi request reprint Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome
    Ghada M H Abdel-Salam
    Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt
    Am J Med Genet A 158:1823-31. 2012
  4. doi request reprint Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 158:1455-61. 2012
  5. doi request reprint A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:2885-96. 2011
  6. doi request reprint Ectodermal abnormalities in patients with Kabuki syndrome
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Pediatr Dermatol 28:507-11. 2011
  7. doi request reprint Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
    Ghada M H Abdel-Salam
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:207-14. 2011
  8. doi request reprint Chilblains as a diagnostic sign of aicardi-goutières syndrome
    G M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Neuropediatrics 41:18-23. 2010
  9. ncbi request reprint Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination
    G M H Abdel-Salam
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 19:309-17. 2008
  10. doi request reprint Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 146:2929-36. 2008

Detail Information

Publications12

  1. doi request reprint Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 161:1875-81. 2013
    ..One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well...
  2. pmc A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
    Ghada M H Abdel-Salam
    Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Am J Med Genet A 158:2788-96. 2012
    ..We expand the phenotypic spectrum of MEDS caused by IER3IP1 gene mutations and propose that WRS and MEDS are overlapping clinical syndromes, displaying significant gene-dependent clinical variability...
  3. doi request reprint Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome
    Ghada M H Abdel-Salam
    Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt
    Am J Med Genet A 158:1823-31. 2012
    ....
  4. doi request reprint Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 158:1455-61. 2012
    ..These findings expand the mutational and phenotypic spectrum of this syndrome...
  5. doi request reprint A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:2885-96. 2011
    ..To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I...
  6. doi request reprint Ectodermal abnormalities in patients with Kabuki syndrome
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Pediatr Dermatol 28:507-11. 2011
    ..Variable orodental anomalies were seen in all the patients with an everted lower lip found in four patients (57.1%). This report provides further evidence that some cases of KS have ectodermal involvement...
  7. doi request reprint Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
    Ghada M H Abdel-Salam
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:207-14. 2011
    ..Mutation analysis of FGFR3 showed a c.749C > G, p.Pro250Arg substitution. To the best of our knowledge, these manifestations have not been reported in patients with Muenke syndrome...
  8. doi request reprint Chilblains as a diagnostic sign of aicardi-goutières syndrome
    G M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Neuropediatrics 41:18-23. 2010
    ..Our findings highlight the significant role of the characteristic chilblain skin lesions in the diagnosis of AGS, and variability in the associated histopathology which may relate to the stage and severity of the disease...
  9. ncbi request reprint Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination
    G M H Abdel-Salam
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 19:309-17. 2008
    ..Further, it raises a question about factors determining the variability in phenotypic expression among cases with KS. To our knowledge, this is the first case of KS to be reported from Egypt...
  10. doi request reprint Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 146:2929-36. 2008
    ..We propose that the distinct pattern in these sibs constitutes genetic disorder of microcephaly, developmental brain malformation and intracranial calcification of likely autosomal recessive inheritance...
  11. ncbi request reprint Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene
    Samia A Temtamy
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Dokki, Cairo, Egypt
    Am J Med Genet A 140:1189-95. 2006
    ..The purpose of this study is to report clinical and radiological findings in two molecularly proven Egyptian sibs with autosomal recessive OSMED...
  12. ncbi request reprint Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs
    Ghada M H Abdel-Salam
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Brain Dev 28:529-33. 2006
    ..Our report adds more weight that brain stem dysgenesis could be associated with DWM, increasing the spectrum of heterogeneity of this malformation...