المؤلفون: Hassan HA; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt. heba.amin@yahoo.com., Mazen I; Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Elaidy A; Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Kamel AK; Department of Human Cytogenetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Eissa NR; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt., Essawi ML; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt.

المصدر: Hormones (Athens, Greece) [Hormones (Athens)] 2024 Jun; Vol. 23 (2), pp. 305-312. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2520-8721 (Electronic) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Receptors, LH*/genetics , Disorder of Sex Development, 46,XY*/genetics , Disorder of Sex Development, 46,XY*/diagnosis, Humans ; Male ; Exome Sequencing ; Protein Sorting Signals/genetics ; Mutation, Missense ; Steroid Metabolism, Inborn Errors/genetics ; Alleles ; Testis/abnormalities

SCR Disease Name: Leydig Cell Hypoplasia

المؤلفون: Sabry S; Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt. sas_pharmacienne@yahoo.com., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Eissa NR; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Ibrahim MM; Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.

المصدر: Molecular biology reports [Mol Biol Rep] 2023 Aug; Vol. 50 (8), pp. 6373-6379. Date of Electronic Publication: 2023 Jun 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Laminin*/genetics , Muscular Dystrophies*/genetics , Muscular Dystrophies*/complications , Muscular Dystrophies*/metabolism, Humans ; Dystroglycans/genetics ; Dystroglycans/metabolism ; Fibroblasts/metabolism ; Mutation/genetics

المؤلفون: Sabry S; Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt. sas_pharmacienne@yahoo.com., Eissa NR; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.

المصدر: BMC research notes [BMC Res Notes] 2023 Apr 17; Vol. 16 (1), pp. 53. Date of Electronic Publication: 2023 Apr 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Biomed Central Country of Publication: England NLM ID: 101462768 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-0500 (Electronic) Linking ISSN: 17560500 NLM ISO Abbreviation: BMC Res Notes Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/diagnosis , Congenital Disorders of Glycosylation*/metabolism, Humans ; Glycosylation ; Glycoproteins/genetics ; Glycoproteins/metabolism ; Homozygote ; Lysosomes/metabolism ; Lysosomes/pathology ; Mutation

المؤلفون: Essawi ML; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, Dokki, Cairo, 12311, Egypt.; National Research Centre, Cairo, Egypt., Fateen EM; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, Dokki, Cairo, 12311, Egypt.; National Research Centre, Cairo, Egypt., Atia HA; Department of Pharmacology and Toxicology, College of Pharmacy, Hail University, Hail, Kingdom of Saudi Arabia.; Department of Biochemistry, Faculty of Pharmacy (Girls), Al Azhar University, Cairo, Egypt., Eissa NR; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, Dokki, Cairo, 12311, Egypt. nr.eissa@yahoo.com.; National Research Centre, Cairo, Egypt. nr.eissa@yahoo.com., Aboul-Ezz EH; National Research Centre, Cairo, Egypt.; Division of Oral & Dental Research, Department of Basic Dental Sciences, Dokki, Cairo, 12311, Egypt., Ibrahim MM; National Research Centre, Cairo, Egypt.; Division of Human Genetics and Genome Research, Department of Biochemical Genetics, Dokki, Cairo, 12311, Egypt., Hassan HA; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, Dokki, Cairo, 12311, Egypt.; National Research Centre, Cairo, Egypt., Temtamy SA; National Research Centre, Cairo, Egypt.; Division of Human Genetics and Genome Research, Department of Clinical Genetics, Dokki, Cairo, 12311, Egypt.

المصدر: Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2021 Aug 03; Vol. 19 (1), pp. 111. Date of Electronic Publication: 2021 Aug 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101317150 Publication Model: Electronic Cited Medium: Internet ISSN: 2090-5920 (Electronic) Linking ISSN: 1687157X NLM ISO Abbreviation: J Genet Eng Biotechnol Subsets: PubMed not MEDLINE

المؤلفون: Fateen EM; Department of Biochemical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: efateen@yahoo.com., El Mawgoud HA; Department of Biochemistry, Faculty of pharmacy (Girls), Al Azhar University, Cairo, Egypt. Electronic address: hananmoawad@gmail.com., Eissa NR; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: nr.eissa@yahoo.com., Ibrahim MM; Department of Biochemical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: monamahmoud60@yahoo.com., Aglan MS; Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: drmona_aglan@yahoo.com., Essawi ML; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: mlessawi@yahoo.com.

المصدر: Gene [Gene] 2017 Feb 05; Vol. 600, pp. 48-54. Date of Electronic Publication: 2016 Nov 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Chondroitinsulfatases/*genetics , Mucopolysaccharidosis IV/*enzymology , Mucopolysaccharidosis IV/*genetics, Case-Control Studies ; Child ; Child, Preschool ; Codon, Nonsense ; Consanguinity ; DNA Mutational Analysis ; Egypt ; Female ; Homozygote ; Humans ; Male ; Mucopolysaccharidosis IV/pathology ; Mutation, Missense