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A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

Journal of human genetics, 2022-11, Vol.67 (11), p.669-673

2022

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MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience

Journal of Genetic Engineering and Biotechnology, 2022-07, Vol.20 (1), p.112, Article 112

2022

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Altered Expression of MicroRNAs in the Bone Marrow of Multiple Myeloma Patients and their Relationship to Cytogenetic Aberrations

Current pharmaceutical biotechnology, 2020-01, Vol.21 (13), p.1394-1401

2020

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Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder

Egyptian Journal of Medical Human Genetics, 2021-11, Vol.22 (1), p.81, Article 81

2021

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Evaluation of MLPA as a comprehensive molecular cytogenetic tool to detect cytogenetic markers of chronic lymphocytic leukemia in Egyptian patients

Journal of Genetic Engineering and Biotechnology, 2021-06, Vol.19 (1), p.98, Article 98

2021

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

Egyptian Journal of Medical Human Genetics, 2020-09, Vol.21 (1), p.47, Article 47

2020

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Telomerase reverse transcriptase gene amplification in hematological malignancies

Egyptian Journal of Medical Human Genetics, 2019-11, Vol.20 (1), Article 30

2019

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Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features

Cytogenetic and genome research, 2019-01, Vol.159 (3), p.130-136

2019

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Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

Cytogenetic and genome research, 2020-04, Vol.160 (3), p.124-133

2020

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Response to letter from Okoye JO and Ngokere AA “Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?”

Prenatal diagnosis, 2020-12, Vol.40 (12), p.1618-1619

2020

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A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis

Sexual development, 2018-01, Vol.12 (5), p.239-243

2018

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Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations

Prenatal diagnosis, 2020-04, Vol.40 (5), p.565-576

2020

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Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients

Journal of Genetic Engineering and Biotechnology, 2023-12, Vol.21 (1), p.149, Article 149

2023

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Detection of low-grade mosaicism and its correlation with hormonal profile, testicular volume, and semen quality in a cohort of Egyptian Klinefelter and Klinefelter-like patients

Reproductive biology, 2020-06, Vol.20 (2), p.259-263

2020

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Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility

Journal of Genetic Engineering and Biotechnology, 2023-12, Vol.21 (1), p.111, Article 111

2023

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Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Journal of pediatric genetics (Birmingham, Ala.), 2020-09, Vol.9 (3), p.207-210

2020

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Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2662-2670

2016

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1190-1194

2018

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De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder

Pediatric dermatology, 2016-03, Vol.33 (2), p.e109-e113

2016

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Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Journal of pediatric genetics (Birmingham, Ala.), 2020-09, Vol.9 (3), p.e1-e1

2020

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De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2418-2424

2015

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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2885-2896

2011

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Evaluation of BRCA1 Large Genomic Rearrangements in Group of Egyptian Female Breast Cancer Patients Using MLPA

The gulf journal of oncology, 2017-09, Vol.1 (25), p.64

2017

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A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience

Altered Expression of MicroRNAs in the Bone Marrow of Multiple Myeloma Patients and their Relationship to Cytogenetic Aberrations

Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder

Evaluation of MLPA as a comprehensive molecular cytogenetic tool to detect cytogenetic markers of chronic lymphocytic leukemia in Egyptian patients

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

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

Telomerase reverse transcriptase gene amplification in hematological malignancies

Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

Response to letter from Okoye JO and Ngokere AA “Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?”

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations

Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients

Detection of low-grade mosaicism and its correlation with hormonal profile, testicular volume, and semen quality in a cohort of Egyptian Klinefelter and Klinefelter-like patients

Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility

Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder

Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

Evaluation of BRCA1 Large Genomic Rearrangements in Group of Egyptian Female Breast Cancer Patients Using MLPA

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