Inas Mazen

Summary

Publications

  1. doi request reprint Clinical Management of Gender in Egypt: Intersexuality and Transsexualism
    Inas A Mazen
    Human Genetic and Genome Division, Department of Clinical Genetics, National Research Center, El Bohouth St, Dokki, Guiza, Egypt
    Arch Sex Behav 46:369-372. 2017
  2. doi request reprint AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome
    Inas Mazen
    Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Center, Cairo, Egypt
    Sex Dev 5:277-80. 2011
  3. ncbi request reprint The First Egyptian-German workshop on disorders of sex development (DSD) National Research Centre, Cairo, Egypt, 24-25 November 2007
    Inas Mazen
    National Research Center, Cariro, Egypt
    Pediatr Endocrinol Rev 5:922-3. 2008
  4. doi request reprint A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
    I Mazen
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Mol Genet Metab 97:305-8. 2009
  5. doi request reprint Screening of genital anomalies in newborns and infants in two egyptian governorates
    I Mazen
    Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Center, Giza, Egypt
    Horm Res Paediatr 73:438-42. 2010
  6. doi request reprint Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity
    I Mazen
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Mol Genet Metab 102:461-4. 2011
  7. ncbi request reprint A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred
    Mona Hafez
    The National Research Center, Cairo University, Cairo, Egypt
    Horm Res 59:281-4. 2003
  8. doi request reprint Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations
    Mona Aglan
    Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 167:3054-61. 2015
  9. doi request reprint Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development
    Inas Mazen
    Department of Clinical Genetics, National Research Center, Cairo, Egypt
    Sex Dev 10:16-22. 2016
  10. doi request reprint Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome
    Inas Mazen
    Department of Clinical Genetics, Human Genetic and Genome Research Division, National Research Centre, Cairo, Egypt
    Sex Dev . 2017

Collaborators

Detail Information

Publications15

  1. doi request reprint Clinical Management of Gender in Egypt: Intersexuality and Transsexualism
    Inas A Mazen
    Human Genetic and Genome Division, Department of Clinical Genetics, National Research Center, El Bohouth St, Dokki, Guiza, Egypt
    Arch Sex Behav 46:369-372. 2017
    ..Gender reassignment surgery for transsexuals without somatic intersexuality was legalized in Egypt in 2005, but requires permission by a national Sex Identification and Determination Committee...
  2. doi request reprint AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome
    Inas Mazen
    Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Center, Cairo, Egypt
    Sex Dev 5:277-80. 2011
    ..These data confirmed the autosomal recessive type of PMDS. Molecular investigation of this rare disorder in a larger number of cases with undescended testes in Egypt is warranted for proper diagnosis and genetic counseling...
  3. ncbi request reprint The First Egyptian-German workshop on disorders of sex development (DSD) National Research Centre, Cairo, Egypt, 24-25 November 2007
    Inas Mazen
    National Research Center, Cariro, Egypt
    Pediatr Endocrinol Rev 5:922-3. 2008
  4. doi request reprint A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
    I Mazen
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Mol Genet Metab 97:305-8. 2009
    ..In conclusion, this study presents the third reported mutation of the LEP gene and will provide further insight into the physiologic role of leptin in human obesity...
  5. doi request reprint Screening of genital anomalies in newborns and infants in two egyptian governorates
    I Mazen
    Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Center, Giza, Egypt
    Horm Res Paediatr 73:438-42. 2010
    ..External genital anomalies are among the most common congenital anomalies. Proper early diagnosis and management of genital abnormalities are of great importance to minimize medical, psychological and social complications...
  6. doi request reprint Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity
    I Mazen
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Mol Genet Metab 102:461-4. 2011
    ..Further screening of more families for mutations in LEP, LEPR, and MC4 might confirm this assumption...
  7. ncbi request reprint A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred
    Mona Hafez
    The National Research Center, Cairo University, Cairo, Egypt
    Horm Res 59:281-4. 2003
    ..To describe the clinical, biological and molecular data in a large Egyptian kindred with 5alpha-reductase deficiency...
  8. doi request reprint Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations
    Mona Aglan
    Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Am J Med Genet A 167:3054-61. 2015
    ..Our results extend the number of ROR2 mutations identified so far, suggest a founder effect in the Egyptian population, and emphasize the important role of genetic testing in proper counseling and patients' management...
  9. doi request reprint Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development
    Inas Mazen
    Department of Clinical Genetics, National Research Center, Cairo, Egypt
    Sex Dev 10:16-22. 2016
    ..Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype. ..
  10. doi request reprint Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome
    Inas Mazen
    Department of Clinical Genetics, Human Genetic and Genome Research Division, National Research Centre, Cairo, Egypt
    Sex Dev . 2017
    ..767A>C; p.H256P) and a novel frameshift mutation in the AMH gene in the second patient (c.203delC; p.L70Cfs*7). We conclude that persistent müllerian ducts should be included in the differential diagnosis of cryptorchidism...
  11. ncbi request reprint A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia
    Inas Mazen
    The National Research Center, Cairo, Egypt
    J Pediatr Endocrinol Metab 16:219-24. 2003
    ..Direct sequencing of the five exons of the 5alphaR type 2 gene and exons 2 to 8 of the androgen receptor gene was carried out...
  12. doi request reprint Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency
    Heba Amin Hassan
    Medical Molecular Genetics Department, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt
    Sex Dev 10:66-73. 2016
    ..It was evidenced that the mutational profile of the disease is rather heterogeneous, relatively different from those reported in other populations, and has a high degree of novel genetic defects. ..
  13. doi request reprint Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis
    Inas Mazen
    Department of Clinical Genetics, National Research Center, Cairo, Egypt
    Sex Dev 10:147-51. 2016
    ..Our data extend the number of NR5A1 gene mutations associated with gonadal dysgenesis. The combination of an NR5A1 mutation with a MAP3K1 variant may explain the phenotypic variability associated with NR5A1 mutations. ..
  14. pmc A novel mutation in the leptin gene (W121X) in an Egyptian family
    Inas Mazen
    Clinical Genetics Department, National Research Centre, Cairo, Egypt
    Mol Genet Metab Rep 1:474-476. 2014
    ..These patients showed features in accordance with leptin deficiency...
  15. 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