Inas Mazen

Summary

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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

Collaborators

Detail Information

Publications8

  1. 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...
  2. 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
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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