Detalhe da pesquisa
1.
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Proc Natl Acad Sci U S A
; 117(24): 13680-13688, 2020 06 16.
Artigo
Inglês
| MEDLINE | ID: mdl-32493750
2.
Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies.
Cytogenet Genome Res
; 156(2): 71-79, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30273929
3.
Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.
J Sex Med
; 14(9): 1165-1174, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28859874
4.
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.
Am J Med Genet A
; 170A(4): 1050-8, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26749249
5.
Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.
Hormones (Athens)
; 2024 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38526829
6.
An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization.
J Assist Reprod Genet
; 35(8): 1503-1508, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29860576
7.
Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.
J Pediatr Genet
; 10(2): 131-138, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33996184
8.
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Mol Genet Genomic Med
; 9(2): e1546, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33217222
9.
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Mol Genet Genomic Med
; 9(11): e1829, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34609792
10.
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.
Mol Syndromol
; 11(5-6): 284-295, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33510599
11.
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review.
Sex Dev
; 13(5-6): 221-227, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-32535607
12.
Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.
Sex Dev
; 12(5): 211-217, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30007989
13.
Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.
Sex Dev
; 11(5-6): 275-279, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29324451
14.
Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.
Sex Dev
; 9(5): 279-88, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26656938
15.
46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene.
Sex Dev
; 8(4): 151-5, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24941935
16.
Constitutional retinoblastoma gene deletion in Egyptian patients.
World J Pediatr
; 5(3): 222-5, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19693468