List of works - Inas Mazen

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

scientific article

A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.

scientific article published on 16 July 2014

A novel mutation in the leptin gene (W121X) in an Egyptian family.

scientific article

A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.

scientific article published on 18 June 2013

A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis.

scientific article published on January 2003

A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.

scientific article published on 24 July 2010

Achieving diagnostic certainty in resource-limited settings.

scientific article published on 09 September 2014

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum.

scientific article published on 19 October 2011

Changes over time in sex assignment for disorders of sex development.

scientific article published on 4 August 2014

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

scientific article

Detection of the G34R mutation in the 5 alpha reductase 2 gene by allele specific PCR and its linkage to the 89L allele among Egyptian cases.

scientific article published on January 2007

Differential diagnosis of disorders of sex development in Egypt.

scientific article published on 12 June 2008

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

scientific article published on September 2014

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

scientific article published on 31 December 2010

Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)

article

Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.

scientific article published in May 2003

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

scientific article published on 8 December 2010

Screening of genital anomalies in newborns and infants in two egyptian governorates.

scientific article

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene

scientific article

Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation

scientific article published on 12 December 2015

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

scientific article published on 13 May 2009

Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH

scientific article published on 01 October 2011

Transposition of external genitalia and associated malformations

scientific article published on 01 January 2003

Unique karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian patient with Ovotesticular disorder of sexual development.

scientific article published on 09 May 2013

Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly-lymphoedema

scientific article published on October 2006

Variable Associations of Klinefelter Syndrome in Children ⬇️

scientific article published on October 1, 2010

List of works by Inas Mazen

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.

A novel mutation in the leptin gene (W121X) in an Egyptian family.

A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.

A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis.

A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.

Achieving diagnostic certainty in resource-limited settings.

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum.

Changes over time in sex assignment for disorders of sex development.

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Detection of the G34R mutation in the 5 alpha reductase 2 gene by allele specific PCR and its linkage to the 89L allele among Egyptian cases.

Differential diagnosis of disorders of sex development in Egypt.

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)

Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Screening of genital anomalies in newborns and infants in two egyptian governorates.

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene

Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH

Transposition of external genitalia and associated malformations

Unique karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian patient with Ovotesticular disorder of sexual development.

Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly-lymphoedema

Variable Associations of Klinefelter Syndrome in Children ⬇️