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Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 4, p. 919, doi. 10.1007/s00438-023-02025-1
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- Publication type:
- Article
A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
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- 2023
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- Publication type:
- Case Study
Study of the Quality of Life in Children and Adolescents with Disorders of Sex Development (DSD).
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- Middle East Journal of Medical Genetics, 2023, v. 12, n. 1, p. 1, doi. 10.21608/MXE.2023.209884.1002
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- Publication type:
- Article
A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
- Published in:
- 2022
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- Publication type:
- Case Study
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1829
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- Publication type:
- Article
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
- Published in:
- Sexual Development, 2021, v. 15, n. 4, p. 244, doi. 10.1159/000515924
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- Publication type:
- Article
IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children.
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- Journal of Genetic Engineering & Biotechnology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s43141-021-00202-6
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- Publication type:
- Article
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1666, doi. 10.1002/ajmg.a.62129
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- Publication type:
- Article
Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature.
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- Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s43042-020-00090-4
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- Publication type:
- Article
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 7, p. 893, doi. 10.1515/jpem-2019-0575
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- Publication type:
- Article
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review.
- Published in:
- 2019
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- Publication type:
- Abstract
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1053, doi. 10.1002/ajmg.a.61133
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- Publication type:
- Article
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 237, doi. 10.1002/ajmg.a.61021
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- Publication type:
- Article
Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.
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- Sexual Development, 2018, v. 12, n. 5, p. 211, doi. 10.1159/000490840
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- Publication type:
- Article
A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.
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- Sexual Development, 2018, v. 12, n. 5, p. 239, doi. 10.1159/000491407
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- Publication type:
- Article
An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization.
- Published in:
- 2018
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- Publication type:
- Case Study
Identification of a novel homozygous <italic>ALX4</italic> mutation in two unrelated patients with frontonasal dysplasia type‐2.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1190, doi. 10.1002/ajmg.a.38655
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- Publication type:
- Article
Aromatase Deficiency due to a Homozygous <bold><italic>CYP19A1</italic></bold> Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.
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- Sexual Development, 2017, v. 11, n. 5/6, p. 275, doi. 10.1159/000485278
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- Publication type:
- Article
<bold><italic>WT1</italic></bold> Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.
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- Sexual Development, 2017, v. 11, n. 5/6, p. 280, doi. 10.1159/000485394
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- Publication type:
- Article
Clinical Management of Gender in Egypt: Intersexuality and Transsexualism.
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- 2017
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- Publication type:
- journal article
Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome.
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- Sexual Development, 2017, v. 11, n. 1, p. 29, doi. 10.1159/000455019
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- Publication type:
- Article
Cytogenetics abnormalities in a referred population for chromosomal analysis and the role of fluorescence in-situ hybridization in refining the diagnosis.
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- Middle East Journal of Medical Genetics, 2017, v. 8, n. 1, p. 13, doi. 10.1097/01.MXE.0000510783.68308.a4
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- Publication type:
- Article
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
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- Sexual Development, 2016, v. 10, n. 3, p. 147, doi. 10.1159/000445983
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- Publication type:
- Article
Chromosome 17q duplication associated with 21q telomeric deletion in a female patient with multiple congenital anomalies.
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- Middle East Journal of Medical Genetics, 2016, v. 5, n. 2, p. 54, doi. 10.1097/01.MXE.0000484367.43852.26
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- Publication type:
- Article
Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.
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- Sexual Development, 2016, v. 10, n. 2, p. 66, doi. 10.1159/000445311
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- Publication type:
- Article
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
- Published in:
- Sexual Development, 2016, v. 10, n. 1, p. 16, doi. 10.1159/000444948
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- Publication type:
- Article
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1050, doi. 10.1002/ajmg.a.37523
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- Publication type:
- Article
Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.
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- Sexual Development, 2016, v. 9, n. 5, p. 279, doi. 10.1159/000442332
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- Publication type:
- Article
Clinical and Molecular Characterization of Seven Egyptian Families with Autosomal Recessive Robinow Syndrome: Identification of Four Novel ROR2 Gene Mutations.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3054, doi. 10.1002/ajmg.a.37287
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- Publication type:
- Article
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.
- Published in:
- 2015
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- Publication type:
- journal 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.
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- Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 411, doi. 10.1159/000360292
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- Publication type:
- Article
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 873, doi. 10.1515/jpem-2013-0443
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- Publication type:
- Article
XX testicular disorder of sex development with Down syndrome.
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- Middle East Journal of Medical Genetics, 2014, v. 3, n. 2, p. 70, doi. 10.1097/01.MXE.0000449829.69875.e5
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- Publication type:
- Article
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sexdevelopment.
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- European Journal of Endocrinology, 2014, v. 170, n. 5, p. 759, doi. 10.1530/EJE-13-0965
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- Publication type:
- Article
Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1594, doi. 10.1002/ajmg.a.35487
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- Publication type:
- Article
A clinical and genetic study of childhood and adolescent obesity.
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- Middle East Journal of Medical Genetics, 2012, v. 1, n. 1, p. 18, doi. 10.1097/01.MXE.0000407741.35881.c2
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- Publication type:
- Article
Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2496, doi. 10.1002/ajmg.a.34176
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- Publication type:
- Article
Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 2, p. 296, doi. 10.1210/jc.2010-1024
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- Publication type:
- Article
Variable Associations of Klinefelter Syndrome in Children.
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- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 10, p. 985, doi. 10.1515/jpem.2010.158
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- Publication type:
- Article
Assessment of Pubertal Development in Egyptian Girls.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 6, p. 577, doi. 10.1515/jpem.2005.18.6.577
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- Publication type:
- Article
Molecular analysis of 5α-reductase type 2 gene in eight unrelated egyptian children with suspected 5α-reductase deficiency: prevalence of the G34R mutation.
- Published in:
- Clinical Endocrinology, 2003, v. 58, n. 5, p. 627, doi. 10.1046/j.1365-2265.2003.01763.x
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- Publication type:
- Article
A Novel Mutation of the 5α-Reductase Type 2 Gene in Two Unrelated Egyptian Children with Ambiguous Genitalia.
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- Journal of Pediatric Endocrinology & Metabolism, 2003, v. 16, n. 2, p. 219, doi. 10.1515/jpem.2003.16.2.219
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- Publication type:
- Article