Maha S Zaki

Summary

Affiliation: Cairo University
Country: Egypt

Publications

  1. ncbi request reprint Emanuel syndrome due to unusual segregation of paternal origin
    M S Zaki
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 23:319-28. 2012
  2. ncbi request reprint Bartsocas-Papas syndrome with variable expressivity in an Egyptian family
    M S Zaki
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 23:269-79. 2012
  3. doi request reprint Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum
    M S Zaki
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Egypt
    Eur J Med Genet 55:43-8. 2012
  4. ncbi request reprint Familial congenital brachial palsy: a report of two affected Egyptian families
    M S Zaki
    National Research Center, Department of Clinical Genetics, Human Genetics and Genome Research Unit, El Tahrir Street, Dokki, Cairo, Egypt
    Genet Couns 15:27-36. 2004
  5. pmc Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
    Maha S Zaki
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:3042-9. 2011
  6. pmc New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect
    Maha S Zaki
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:3035-41. 2011
  7. ncbi request reprint Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder
    Maha S Zaki
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Am J Med Genet A 149:1789-94. 2009
  8. ncbi request reprint Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation
    Maha Zaki
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 143:939-44. 2007
  9. ncbi request reprint Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes
    M S Zaki
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 16:393-402. 2005
  10. 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

Collaborators

Detail Information

Publications25

  1. ncbi request reprint Emanuel syndrome due to unusual segregation of paternal origin
    M S Zaki
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 23:319-28. 2012
    ..We postulated that this rare chromosomal complement can arise from; 2:2 segregation in the first meiotic division of the balanced translocation father followed by non-disjunction at meiosis II in the balanced spermatocyte...
  2. ncbi request reprint Bartsocas-Papas syndrome with variable expressivity in an Egyptian family
    M S Zaki
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 23:269-79. 2012
    ..Our findings provide further evidence of intrafamilial clinical heterogeneity in families with BPS...
  3. doi request reprint Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum
    M S Zaki
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Egypt
    Eur J Med Genet 55:43-8. 2012
    ..This report provides further evidence of phenotype-genotype correlation and expands the phenotypic spectrum of midline defects described with this syndrome...
  4. ncbi request reprint Familial congenital brachial palsy: a report of two affected Egyptian families
    M S Zaki
    National Research Center, Department of Clinical Genetics, Human Genetics and Genome Research Unit, El Tahrir Street, Dokki, Cairo, Egypt
    Genet Couns 15:27-36. 2004
    ..Pedigree analysis of both families and the high rate of consanguinity among them are highly suggestive of autosomal recessive inheritance with variable expression...
  5. pmc Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
    Maha S Zaki
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:3042-9. 2011
    ..The variable phenotypic expressivity in this family suggests that genetic modifiers may determine specific clinical features within the ciliopathy spectrum...
  6. pmc New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect
    Maha S Zaki
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:3035-41. 2011
    ..This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance...
  7. ncbi request reprint Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder
    Maha S Zaki
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Am J Med Genet A 149:1789-94. 2009
    ..Parents had normal brain imaging findings. We suggest delineation of a distinct developmental brain defect, most likely of autosomal recessive inheritance...
  8. ncbi request reprint Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation
    Maha Zaki
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 143:939-44. 2007
    ..A disruption of RELN at 7q22.1 with absence of encoded protein was identified. This is the first demonstration that such rare homozygous translocations can be used to identify recessive disease gene mutations...
  9. ncbi request reprint Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes
    M S Zaki
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 16:393-402. 2005
    ..To our knowledge, this is the first report of double aneuploidy, Down-Turner and Down-Klinefelter syndromes in Egyptian patients...
  10. 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...
  11. 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...
  12. 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...
  13. 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
    ....
  14. ncbi request reprint Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly
    Samira Ismail
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt
    Gene 539:279-82. 2014
    ..In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations. Our results expand the geographic and clinical spectrum of fukutin mutations. ..
  15. pmc Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum
    Alice Abdel Aleem
    Medical Molecular Genetics Department, National Research Center, Cairo, Egypt
    Eur J Med Genet 54:82-5. 2011
    ..Cognitive impairment and polyneuropathy, reported as frequent in SPG11, were not evident. This family supports the importance of SPG11 as a frequent cause for ARHSP-TCC, and expands the clinical SPG11 spectrum...
  16. pmc Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation
    Maha S Zaki
    Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, El Tahrir Street, Dokki, Cairo 12311, Egypt
    Brain 135:2416-27. 2012
    ..We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation...
  17. ncbi request reprint Adams-Oliver syndrome: further evidence of an autosomal recessive variant
    Samia A Temtamy
    Clinical Genetics Department, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt
    Clin Dysmorphol 16:141-9. 2007
    ..The results of this study provide further evidence of clinical and genetic heterogeneity and support the presence of autosomal recessive variant of Adams-Oliver syndrome...
  18. doi request reprint Congenital isolated leukonychia totalis in three Egyptian sibs
    Hanan H Afifi
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Am J Med Genet A 155:811-4. 2011
    ..The sibs had similar facial features and were offspring of consanguineous Egyptian parents. We discussed possible mechanisms of inheritance and suggested an autosomal recessive mode of transmission...
  19. ncbi request reprint Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly-lymphoedema
    Inas Mazen
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Clin Dysmorphol 15:245-7. 2006
  20. doi request reprint Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy
    Alice Abdel-Aleem
    Stem Cell Unit, National Research Centre, Cairo, Egypt
    J Neurol 255:413-9. 2008
    ..This family expands the phenotypic spectrum of early onset SCA2 and points out the importance of considering SCA2 gene analysis in children with progressive neurological impairment and abnormal movements with or without polyphagia...
  21. ncbi request reprint Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics
    H H Afifi
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Genet Couns 19:47-58. 2008
    ..3. In conclusion, identification and further delineation of more similar patients will contribute to understanding the genetic basis of the 11q phenotype...
  22. doi request reprint The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families
    M S Zaki
    Clinical Genetics Department, National Research Centre, Neuromotor Institute, Cairo, Egypt
    Neurology 70:556-65. 2008
    ..Each family could be classified into one of the four subtypes. This classification may thus be useful in the evaluation of patients with JSRD...
  23. ncbi request reprint Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome
    M El-Ruby
    Clinical Genetics Department, National Research Centre, Dokki, Cairo, Egypt
    Genet Couns 18:217-26. 2007
    ....
  24. ncbi request reprint Elejalde syndrome: clinical and histopathological findings in an Egyptian male
    H H Afifi
    Clinical Genetics Department, National Research Centre, Dokki, Giza, Cairo, Egypt
    Genet Couns 18:179-88. 2007
    ..The differential diagnosis of silvery hair disorders includes Elejalde syndrome, Griscelli and Chediak-Higashi syndromes. In the present report, we review the literature on Elejalde syndrome and discuss the differential diagnosis...
  25. ncbi request reprint Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases
    G M H Abdel-Salam
    Department of Human Genetics, National Research Centre, Dokki, Cairo, Egypt
    Acta Paediatr 93:929-36. 2004
    ..To describe the clinical and neuroimaging findings in new cases with Aicardi-Goutières syndrome (AGS) from Egypt...