المؤلفون: Politi C; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Grillone K; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Nocera D; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Colao E; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Bellisario ML; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Loddo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy., Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy., Perrotti N; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy.; Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, Località Germaneto, 88100 Catanzaro, Italy., Rodolfo I; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy.; Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, Località Germaneto, 88100 Catanzaro, Italy., Malatesta P; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy.

المصدر: Genes [Genes (Basel)] 2024 Jan 16; Vol. 15 (1). Date of Electronic Publication: 2024 Jan 16.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Genes, sry* , Chromosomes, Human, X*/genetics, Male ; Pregnancy ; Humans ; Female ; Sex-Determining Region Y Protein/genetics ; Chromosome Aberrations ; Karyotyping ; Translocation, Genetic/genetics

المؤلفون: Prasad P; Basic Dental Sciences Department, College of Dentistry, Ajman University, Ajman, United Arab Emirates.; Center of Medical and Bio-allied Health Sciences Research, Ajman University, Ajman, United Arab Emirates., Jaber M; Center of Medical and Bio-allied Health Sciences Research, Ajman University, Ajman, United Arab Emirates.; College of Dentistry, Ajman University, Ajman, United Arab Emirates., Y D; Department of Oral Pathology, College of Dentistry, Saveetha University, Thandalam, India., Ramani P; Department of Oral Pathology, College of Dentistry, Saveetha University, Thandalam, India., Arafat A; College of Dentistry, Ajman University, Ajman, United Arab Emirates., Khairy A; College of Dentistry, Ajman University, Ajman, United Arab Emirates.

المصدر: PloS one [PLoS One] 2024 Jan 03; Vol. 19 (1), pp. e0294751. Date of Electronic Publication: 2024 Jan 03 (Print Publication: 2024).

نوع المنشور: Observational Study; Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Genes, sry*/genetics , Tooth*/chemistry, Female ; Humans ; Male ; Dental Pulp ; DNA/genetics ; Forensic Medicine ; Sex Determination Analysis/methods

المؤلفون: Shen H; Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Harbin Medical University, China., Liu Y; Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Harbin Medical University, China., Wang C; Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Harbin Medical University, China., Wang R; Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Harbin Medical University, China., Di Z; Department of Ultrasonic Medicine, The Second Affiliated Hospital of Harbin Medical University, China., Huang X; Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Harbin Medical University, China., Zhang H; Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Harbin Medical University, China., Liu M; Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Harbin Medical University, China. Electronic address: mm7723@163.com.

المصدر: European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2023 Oct; Vol. 289, pp. 140-144. Date of Electronic Publication: 2023 Sep 01.

نوع المنشور: Review; Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 0375672 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7654 (Electronic) Linking ISSN: 03012115 NLM ISO Abbreviation: Eur J Obstet Gynecol Reprod Biol Subsets: MEDLINE

مواضيع طبية MeSH: Genes, sry* , Prenatal Diagnosis*, Female ; Pregnancy ; Humans ; Amniocentesis ; Sexual Development ; Fetus

المؤلفون: Bambi M; Department of Biology, University of Florence, Sesto Fiorentino, Italy.; Conservation Genomics Research Unit, Research and Innovation Centre, Fondazione Edmund Mach, San Michele all'Adige, Italy., Galla G; Conservation Genomics Research Unit, Research and Innovation Centre, Fondazione Edmund Mach, San Michele all'Adige, Italy., Donati C; Computational Biology Research Unit, Research and Innovation Centre, Fondazione Edmund Mach, San Michele all'Adige, Italy., Rovero F; Department of Biology, University of Florence, Sesto Fiorentino, Italy., Hauffe HC; Conservation Genomics Research Unit, Research and Innovation Centre, Fondazione Edmund Mach, San Michele all'Adige, Italy., Barelli C; Department of Biology, University of Florence, Sesto Fiorentino, Italy. claudia.barelli@unifi.it.

المصدر: Scientific reports [Sci Rep] 2024 Jan 09; Vol. 14 (1), pp. 869. Date of Electronic Publication: 2024 Jan 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Papio cynocephalus*/genetics , Gastrointestinal Microbiome*/genetics, Female ; Male ; Animals ; RNA, Ribosomal, 16S/genetics ; Genes, sry ; Forests ; Papio ; Mammals

المؤلفون: Zhytnik L; Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia. Lidiia.zhytnik@ut.ee., Peters M; Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia.; Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Tilk K; Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia., Reimand T; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Ilisson P; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Kahre T; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Murumets Ü; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Ehrenberg A; Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Women's Clinic, Tartu University Hospital, Tartu, Estonia., Ustav EL; Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Women's Clinic, Tartu University Hospital, Tartu, Estonia., Tõnisson N; Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Genomics, University of Tartu, Tartu, Estonia.; Department of Reproductive Medicine, West Tallinn Central Hospital, Tallinn, Estonia., Mölder S; Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia., Teder H; Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia.; Institute of Bio- and Translational Medicine, University of Tartu, Tartu, Estonia., Krjutškov K; Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia.; Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Salumets A; Competence Centre on Health Technologies, Teaduspargi 13, 50411, Tartu, Estonia.; Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Division of Obstetrics and Gynaecology, Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden.

المصدر: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2022 Feb 05; Vol. 22 (1), pp. 105. Date of Electronic Publication: 2022 Feb 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393 (Electronic) Linking ISSN: 14712393 NLM ISO Abbreviation: BMC Pregnancy Childbirth Subsets: MEDLINE

مواضيع طبية MeSH: Genes, sry*, Fetal Diseases/*etiology , Fetal Diseases/*genetics , Gonadal Dysgenesis, 46,XY/*etiology , Gonadal Dysgenesis, 46,XY/*genetics , Sperm Injections, Intracytoplasmic/*adverse effects, Female ; Humans ; Karyotyping ; Noninvasive Prenatal Testing ; Parents ; Risk Factors

المؤلفون: Krzeminska P; Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, Poznan, 60-637, Poland., Nowacka-Woszuk J; Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, Poznan, 60-637, Poland., Switonski M; Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, Poznan, 60-637, Poland.

المصدر: Animal genetics [Anim Genet] 2022 Feb; Vol. 53 (1), pp. 152-155. Date of Electronic Publication: 2021 Oct 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2052 (Electronic) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations* , Genes, sry* , Genome*, Disorders of Sex Development/*veterinary , Dog Diseases/*genetics, Animals ; Disorders of Sex Development/genetics ; Dogs

المؤلفون: Akar OS; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Gunes S; Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Abur U; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Altundag E; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Asci R; Department of Urology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Onat OE; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Ozcelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Ogur G; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

المصدر: Andrologia [Andrologia] 2020 Dec; Vol. 52 (11), pp. e13739. Date of Electronic Publication: 2020 Sep 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Pub Country of Publication: Germany NLM ID: 0423506 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-0272 (Electronic) Linking ISSN: 03034569 NLM ISO Abbreviation: Andrologia Subsets: MEDLINE

مواضيع طبية MeSH: Genes, sry*/genetics , Testicular Diseases*, Humans ; Karyotyping ; Male ; Phenotype ; Translocation, Genetic

المؤلفون: Mengen E; Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey, Kayhan G; Gazi University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey, Kocaay P; Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey, Uçaktürk SA; Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey

المصدر: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2020 Sep 02; Vol. 12 (3), pp. 308-314. Date of Electronic Publication: 2019 Sep 03.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol

مواضيع طبية MeSH: Genes, sry*, 46, XX Disorders of Sex Development/*genetics , Ovotesticular Disorders of Sex Development/*genetics , SOX9 Transcription Factor/*genetics, 46, XX Disorders of Sex Development/pathology ; Child, Preschool ; Disorders of Sex Development/genetics ; Female ; Gene Deletion ; Gene Duplication ; Humans ; Male ; Ovotesticular Disorders of Sex Development/pathology ; Promoter Regions, Genetic/genetics ; Turkey

المؤلفون: Prokop JW; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, 49503, USA.; Department of Pharmacology and Toxicology, Michigan State University, East Lansing, MI, 48824, USA.; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA., Chhetri SB; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.; Johns Hopkins University, Baltimore, MD, 21218, USA., van Veen JE; Department of Integrative Biology & Physiology, Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, 610 Charles Young Drive South, Los Angeles, CA, 90095, USA., Chen X; Department of Integrative Biology & Physiology, Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, 610 Charles Young Drive South, Los Angeles, CA, 90095, USA., Underwood AC; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, 49503, USA.; Division of Mathematics and Science, Walsh University, North Canton, OH, 44720, USA., Uhl K; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, 49503, USA., Dwinell MR; Department of Physiology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA., Geurts AM; Department of Physiology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA., Correa SM; Department of Integrative Biology & Physiology, Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, 610 Charles Young Drive South, Los Angeles, CA, 90095, USA., Arnold AP; Department of Integrative Biology & Physiology, Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, 610 Charles Young Drive South, Los Angeles, CA, 90095, USA. arnold@ucla.edu.

المصدر: Biology of sex differences [Biol Sex Differ] 2020 May 12; Vol. 11 (1), pp. 28. Date of Electronic Publication: 2020 May 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101548963 Publication Model: Electronic Cited Medium: Internet ISSN: 2042-6410 (Electronic) Linking ISSN: 20426410 NLM ISO Abbreviation: Biol Sex Differ Subsets: MEDLINE

مواضيع طبية MeSH: Genes, sry*, Testis/*growth & development, Animals ; Gene Expression Regulation, Developmental ; Male ; Rats, Sprague-Dawley ; Transcription, Genetic

عنوان ترانسليتريتد: Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso

المؤلفون: Casas-Vargas A; Grupo de Genética de Poblaciones e Identificación, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, D.C., Colombia. lacasasv@unal.edu.co., Galvis J, Blanco J, Rengifo L, Usaquén W, Velasco H

المصدر: Biomedica : revista del Instituto Nacional de Salud [Biomedica] 2019 Dec 01; Vol. 39 (4), pp. 622-630. Date of Electronic Publication: 2019 Dec 01.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Instituto Nacional de Salud Country of Publication: Colombia NLM ID: 8205605 Publication Model: Electronic Cited Medium: Internet ISSN: 2590-7379 (Electronic) Linking ISSN: 01204157 NLM ISO Abbreviation: Biomedica Subsets: MEDLINE

مواضيع طبية MeSH: Genes, sry*, 46, XX Disorders of Sex Development/*diagnosis , 46, XX Disorders of Sex Development/*genetics , Genitalia, Male/*anatomy & histology, Adult ; Amelogenin/analysis ; Chromosome Deletion ; Chromosomes, Human, Y/genetics ; Electrophoresis, Capillary ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Male/diagnosis ; Infertility, Male/genetics ; Karyotyping ; Kruppel-Like Transcription Factors/analysis ; Kruppel-Like Transcription Factors/genetics ; Male ; Microsatellite Repeats ; Nucleic Acid Amplification Techniques ; Pedigree ; Polymerase Chain Reaction/methods ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development/diagnosis ; Sex Chromosome Disorders of Sex Development/genetics

SCR Disease Name: Male sterility due to Y-chromosome deletions