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Clinical Management of Gender in Egypt: Intersexuality and Transsexualism

Archives of sexual behavior, 2017-02, Vol.46 (2), p.369-372

Mazen, Inas A.

2017

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Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature

Molecular genetics and genomics : MGG, 2023-07, Vol.298 (4), p.919-929

2023

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Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

Sexual development, 2016-09, Vol.10 (3), p.147-151

2016

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An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization

Journal of assisted reproduction and genetics, 2018-08, Vol.35 (8), p.1503-1508

2018

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Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.1050-1058

2016

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IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children

Journal of Genetic Engineering and Biotechnology, 2021-07, Vol.19 (1), p.109, Article 109

2021

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Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Sexual development, 2018-01, Vol.12 (5), p.211-217

2018

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Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

The Egyptian journal of medical human genetics, 2020-09, Vol.21 (1), p.47

2020

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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1829-n/a

2021

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

Sexual development, 2016-02, Vol.9 (5), p.279-288

2016

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

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.474-476

2014

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Changes over time in sex assignment for disorders of sex development

Pediatrics (Evanston), 2014-09, Vol.134 (3), p.e710

2014

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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

Proceedings of the National Academy of Sciences - PNAS, 2020-06, Vol.117 (24), p.13680-13688

2020

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Achieving diagnostic certainty in resource-limited settings

Endocrine development, 2014-01, Vol.27, p.257

2014

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

The journal of clinical endocrinology and metabolism, 2015-09, Vol.100 (9), p.3227-3230

2015

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Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II

Hormones (Athens, Greece), 2024-06, Vol.23 (2), p.305-312

2024

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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Human molecular genetics, 2018-04, Vol.27 (7), p.1228-1240

2018

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A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis

Sexual development, 2023-02, Vol.16 (4), p.261-265

2023

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Assessment of pubertal development in Egyptian girls

Journal of pediatric endocrinology & metabolism : JPEM, 2005-06, Vol.18 (6), p.577

2005

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Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.296-307

2011

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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1666-1677

2021

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Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

Sexual development, 2020-10, Vol.13 (5-6), p.221-227

2020

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Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1053-1057

2019

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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

European journal of endocrinology, 2009-08, Vol.161 (2), p.237

2009

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Clinical Management of Gender in Egypt: Intersexuality and Transsexualism

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications

IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

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

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

Changes over time in sex assignment for disorders of sex development

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

Achieving diagnostic certainty in resource-limited settings

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

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis

Assessment of pubertal development in Egyptian girls

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia

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

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