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Tytuł :
A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome.
Autorzy :
Chand MT; Department of Pathology, Ascension St John Hospital, Detroit, Michigan.
Turner S; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan.
Solomon LA; Gynecologic Oncology, Ascension St John Hospital, Detroit, Michigan.
Jay A; Cancer Genetics Department, Ascension St John Hospital, Detroit, Michigan.
Rabah R; Department of Pathology, University of Michigan, Ann Arbor, Michigan.
Misra VK; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan. Electronic address: .
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Źródło :
Journal of pediatric and adolescent gynecology [J Pediatr Adolesc Gynecol] 2020 Oct; Vol. 33 (5), pp. 577-580. Date of Electronic Publication: 2020 Jun 19.
Typ publikacji :
Case Reports
MeSH Terms :
Gonadal Dysgenesis, Mixed/*genetics
Adolescent ; Diagnosis, Differential ; Female ; Gonadal Dysgenesis, 46,XY/diagnosis ; Gonadal Dysgenesis, Mixed/diagnosis ; Humans ; Mosaicism ; Phenotype
Raport
Tytuł :
A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.
Autorzy :
Ambulkar PS; Centre for Genetics & Genomics, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India.
Waghmare JE; Centre for Genetics & Genomics, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India.
Verma Shivkumar P; Department of Obstetrics & Gynaecology, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India.
Narang P; Centre for Genetics & Genomics, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India.; Department of Microbiology, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India.
Pal AK; Centre for Genetics & Genomics, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India.
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Źródło :
Andrologia [Andrologia] 2021 Jun; Vol. 53 (5), pp. e14011. Date of Electronic Publication: 2021 Feb 11.
Typ publikacji :
Case Reports
MeSH Terms :
Gonadal Dysgenesis*
Gonadal Dysgenesis, 46,XY*/genetics
Adult ; Base Sequence ; Female ; Genes, sry/genetics ; Humans ; Male ; Mutation ; Mutation, Missense ; Sex-Determining Region Y Protein/genetics
Raport
Tytuł :
Misdiagnosis of Mullerian agenesis coexisting with gonadal dysgenesis: A clandestine uterus by estrogen deficiency.
Autorzy :
Kisu I; Department of Obstetrics and Gynecology, Federation of National Public Service Personnel Mutual Aid Associations, Tachikawa Hospital, Tokyo, Japan.; Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.
Banno K; Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.
Hirao N; Department of Obstetrics and Gynecology, Federation of National Public Service Personnel Mutual Aid Associations, Tachikawa Hospital, Tokyo, Japan.
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Źródło :
The journal of obstetrics and gynaecology research [J Obstet Gynaecol Res] 2021 May; Vol. 47 (5), pp. 1922-1923. Date of Electronic Publication: 2021 Mar 01.
Typ publikacji :
Letter
MeSH Terms :
Gonadal Dysgenesis*
Turner Syndrome*
Diagnostic Errors ; Estrogens ; Female ; Humans ; Mullerian Ducts ; Uterus/diagnostic imaging
Opinia redakcyjna
Tytuł :
Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report.
Autorzy :
Kurose Y; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan. .
Nagai T; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Shigematsu K; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Uotani T; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Akahori T; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Takai Y; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Seki H; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
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Źródło :
Journal of medical case reports [J Med Case Rep] 2021 Mar 28; Vol. 15 (1), pp. 165. Date of Electronic Publication: 2021 Mar 28.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gonadal Dysgenesis, Mixed*
Neoplasms, Germ Cell and Embryonal*/diagnosis
Urogenital Abnormalities*
Adult ; Amenorrhea/etiology ; Child, Preschool ; Female ; Humans ; Infant, Newborn
Czasopismo naukowe
Tytuł :
Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature.
Autorzy :
Bumbulienė Ž; Vilnius University, Faculty of Medicine, Institute of Clinical Medicine, Clinic of Obstetrics and Gynecology, Vilnius, Lithuania; Vilnius University Hospital Santaros Klinikos, Centre of Obstetrics and Gynecology, Vilnius, Lithuania.
Varytė G; Vilnius University, Faculty of Medicine, Vilnius, Lithuania. Electronic address: .
Geimanaitė L; Vilnius University, Faculty of Medicine, Clinic of Gastroenterology, Nephrourology and Surgery, Vilnius, Lithuania.
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Źródło :
Journal of pediatric and adolescent gynecology [J Pediatr Adolesc Gynecol] 2020 Oct; Vol. 33 (5), pp. 599-601. Date of Electronic Publication: 2020 May 05.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Dysgerminoma/*genetics
Gonadal Dysgenesis, 46,XY/*complications
Gonadoblastoma/*genetics
Ovarian Neoplasms/*genetics
Castration ; Child ; Dysgerminoma/pathology ; Dysgerminoma/prevention & control ; Female ; Gonadal Dysgenesis, 46,XY/diagnosis ; Gonadal Dysgenesis, 46,XY/surgery ; Gonadoblastoma/pathology ; Gonadoblastoma/prevention & control ; Humans ; Ovarian Neoplasms/pathology ; Ovarian Neoplasms/prevention & control ; Prophylactic Surgical Procedures
Czasopismo naukowe
Tytuł :
Successful surgical sperm retrieval from a patient with 45,X/46,XY mosaicism followed by in vitro fertilization pregnancy: A case report.
Autorzy :
Zhang Y; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
Liu Z; College of Medical Laboratory Science, Guilin Medical University, Guilin, Guangxi.
Ou J; Center of Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China.
Zhang LX; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
Lu WY; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
Li Q; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
Ma Y; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Oct 02; Vol. 99 (40), pp. e22223.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gonadal Dysgenesis, Mixed/*genetics
Sperm Injections, Intracytoplasmic/*methods
Adult ; Female ; Gonadal Dysgenesis, Mixed/complications ; Gonadal Dysgenesis, Mixed/diagnosis ; Humans ; Infertility, Male/etiology ; Male ; Mosaicism ; Pregnancy ; Pregnancy Outcome ; Sperm Retrieval
Czasopismo naukowe
Tytuł :
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Autorzy :
Tucker EJ; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia. .; Department of Paediatrics, University of Melbourne, Melbourne, Australia. .
Rius R; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.
Jaillard S; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, 35033, Rennes, France.; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail)-UMR_S 1085, 35000, Rennes, France.
Bell K; Department of Bioinformatics, Murdoch Children's Research Institute, Melbourne, Australia.
Lamont PJ; Neurogenetic Unit, Royal Perth Hospital, Perth, WA, Australia.
Travessa A; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
Dupont J; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
Sampaio L; Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Unidade de Endocrinologia Pediátrica, Lisbon, Portugal.
Dulon J; Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Centre des Pathologies Gynécologiques Rares, AP-HP, Sorbonne University Medicine, Paris, France.
Vuillaumier-Barrot S; AP-HP, Biochimie et Génétique, Hôpital Bichat-Claude Bernard, Paris, France.; INSERM U1149, Paris, France.
Whalen S; AP-HP, UF de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Hôpital Armand Trousseau, Paris, France.
Isapof A; Department Child Neurology and Reference Center for Neuromuscular Diseases 'Nord/Est/Ile-de-France', GRC ConCer-LD, UPMC Univ Paris 06, Sorbonne Universités, FILNEMUS, 75012, Paris, France.
Stojkovic T; APHP, Sorbonne University, Pitié-Salpêtrière Hospital, Nord/Est/Ile de France Neuromuscular Reference Center, Myology Institute, Paris, France.
Quijano-Roy S; Centre de Référence Maladies Neuromusculaires, Service de Neurologie, Réanimation et Réeducation Pédiatriques, Hôpital Raymond Poincaré (APHP Paris Saclay, UVSQ), Garches, France.
Robevska G; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.
van den Bergen J; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.
Hanna C; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatric and Adolescent Gynaecology, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.
Simpson A; School of Allied Health, La Trobe University, Melbourne, Australia.
Ayers K; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Thorburn DR; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.
Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.
Touraine P; Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Centre des Pathologies Gynécologiques Rares, AP-HP, Sorbonne University Medicine, Paris, France.
Sinclair AH; Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia. .; Department of Paediatrics, University of Melbourne, Melbourne, Australia. .
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Źródło :
Human genetics [Hum Genet] 2020 Oct; Vol. 139 (10), pp. 1325-1343. Date of Electronic Publication: 2020 May 12.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
ATPases Associated with Diverse Cellular Activities/*genetics
Amino Acyl-tRNA Synthetases/*genetics
DNA-Binding Proteins/*genetics
Dimethylallyltranstransferase/*genetics
Endopeptidase Clp/*genetics
Farnesyltranstransferase/*genetics
Geranyltranstransferase/*genetics
Gonadal Dysgenesis, 46,XX/*genetics
Hearing Loss, Sensorineural/*genetics
Mitochondrial Proteins/*genetics
Transcription Factors/*genetics
Adolescent ; Adult ; Base Sequence ; Child ; DNA, Mitochondrial/genetics ; Female ; Gene Expression ; Gonadal Dysgenesis, 46,XX/diagnosis ; Gonadal Dysgenesis, 46,XX/pathology ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/pathology ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Ovary/metabolism ; Ovary/pathology ; Pedigree ; Peroxisomes/metabolism ; Peroxisomes/pathology
SCR Disease Name :
Gonadal dysgenesis XX type deafness
Czasopismo naukowe
Tytuł :
Description of diagnosis of 45,X/46,XY ovotesticular DSD.
Autorzy :
Ren Š
Harmaš V
Stará M
Laštůvkováj
Čejnová V
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Transliterated Title :
Diagnostikovaný případ poruchy pohlavní diferenciace (disorders of sex developement) - 45,X/46,XY ovotestikulární DSD.
Źródło :
Ceska gynekologie [Ceska Gynekol] 2020 Winter; Vol. 85 (4), pp. 259-262.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Disorders of Sex Development*/diagnosis
Disorders of Sex Development*/genetics
Gonadal Dysgenesis, 46,XY*
Ovotesticular Disorders of Sex Development*/diagnosis
Ovotesticular Disorders of Sex Development*/genetics
Child ; Female ; Humans ; Karyotype ; Karyotyping ; Male
Czasopismo naukowe
Tytuł :
XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.
Autorzy :
Kim A; Divisions of Endocrinology.
Abell K; Human Genetics.
Johnson J; Human Genetics.
Cizek S; Pediatric and Adolescent Gynecology.
Breech L; Pediatric and Adolescent Gynecology.; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio.
Ernst MM; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio.; Behavioral Medicine and Clinical Psychology.
Hopkin RJ; Human Genetics.; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio.
Kennedy K; Pediatric Urology, and.
Stanek J; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio.; Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; and.
Strine AC; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio.; Pediatric Urology, and.
Rutter MM; Divisions of Endocrinology, .; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio.
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Źródło :
Pediatrics [Pediatrics] 2020 Nov; Vol. 146 (5). Date of Electronic Publication: 2020 Oct 15.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Direct-to-Consumer Advertising*
Dysgerminoma/*secondary
Genetic Testing/*methods
Gonadal Dysgenesis, 46,XY/*diagnosis
Gonadoblastoma/*secondary
Ovarian Neoplasms/*pathology
Adolescent ; Biomarkers, Tumor/blood ; Dysgerminoma/blood ; Dysgerminoma/diagnostic imaging ; Dysgerminoma/genetics ; Female ; Gender Identity ; Genes, sry/genetics ; Gonadal Dysgenesis, 46,XY/blood ; Gonadoblastoma/blood ; Gonadoblastoma/diagnostic imaging ; Gonadoblastoma/genetics ; Humans ; Lung Neoplasms/diagnostic imaging ; Lung Neoplasms/secondary ; Ovarian Neoplasms/diagnostic imaging ; Phenotype
Czasopismo naukowe
Tytuł :
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
Autorzy :
Al Shamsi A; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates.
Al Hassani N; Endocrine Division, Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates.
Hamchou M; Pediatric surgery Division, Surgery Department, Tawam Hospital, Al Ain, United Arab Emirates.
Almazrouei R; Endocrine Division, Internal Medicine Department, Tawam Hospital, Al Ain, United Arab Emirates.
Mhanni A; Department of Pediatrics & Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1514. Date of Electronic Publication: 2020 Sep 28.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Mutation, Missense*
Gonadal Dysgenesis, 46,XY/*genetics
MAP Kinase Kinase Kinase 1/*genetics
Child, Preschool ; Gonadal Dysgenesis, 46,XY/pathology ; Heterozygote ; Humans ; Infant ; Male ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Testicular remnant "nubbin" and incidental ectopic adrenal cortical rests: A case series and systematic review.
Autorzy :
Pathak M; Department of Pediatric Surgery, All India Institute of Medical Sciences Jodhpur, Jodhpur, India. Electronic address: .
Suchiang B; Department of Pediatric Surgery, All India Institute of Medical Sciences Jodhpur, Jodhpur, India.
Elhence P; Department of Pathology, All India Institute of Medical Sciences Jodhpur, Jodhpur, India.
Saxena R; Department of Pediatric Surgery, All India Institute of Medical Sciences Jodhpur, Jodhpur, India.
Jadhav A; Department of Pediatric Surgery, All India Institute of Medical Sciences Jodhpur, Jodhpur, India.
Rathod K; Department of Pediatric Surgery, All India Institute of Medical Sciences Jodhpur, Jodhpur, India.
Sinha A; Department of Pediatric Surgery, All India Institute of Medical Sciences Jodhpur, Jodhpur, India.
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Źródło :
Journal of pediatric urology [J Pediatr Urol] 2020 Oct; Vol. 16 (5), pp. 627-634. Date of Electronic Publication: 2020 Jul 17.
Typ publikacji :
Case Reports; Journal Article; Review; Systematic Review
MeSH Terms :
Cryptorchidism*/diagnosis
Cryptorchidism*/surgery
Gonadal Dysgenesis, 46,XY*
Humans ; Male ; Rest ; Retrospective Studies ; Testis
Czasopismo naukowe
Tytuł :
A non-surgical approach to 46,XY differences in sex development through hormonal suppression at puberty: a single-center case series study.
Autorzy :
Canalichio KL; Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA. .; University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA. .
Shnorhavorian M; Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.; University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.
Oelschlager AA; Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.; University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.
Ramsdell L; Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.
Fisher C; Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.
Adam MP; Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.; University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.
Fechner PY; Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.; University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.
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Źródło :
Endocrine [Endocrine] 2020 Oct; Vol. 70 (1), pp. 170-177. Date of Electronic Publication: 2020 Jul 08.
Typ publikacji :
Journal Article
MeSH Terms :
Gender Identity*
Gonadal Dysgenesis, 46,XY*
Sexual Development*
Child ; Female ; Humans ; Infant ; Male ; Puberty ; Retrospective Studies
Czasopismo naukowe
Tytuł :
A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
Autorzy :
Lavi E; Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel, Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Zighan M; Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Abu Libdeh A; Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel, Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Klopstock T; Institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel, Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Weinberg-Shukron A; Institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel, Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Renbaum P; Institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel, Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Levy-Lahad E; Institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel, Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Zangen D; Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel, E-mail: .
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Źródło :
Pediatric endocrinology reviews : PER [Pediatr Endocrinol Rev] 2020 Aug; Vol. 17 (4), pp. 302-307.
Typ publikacji :
Journal Article
MeSH Terms :
Gonadal Dysgenesis, 46,XY*/genetics
WT1 Proteins/*genetics
Child ; Child, Preschool ; Female ; Frasier Syndrome ; Gonadoblastoma ; Humans ; Infant ; Mutation ; Ovarian Neoplasms
Czasopismo naukowe
Tytuł :
46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma.
Autorzy :
Alam S; Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Boro H; Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Goyal A; Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, Delhi, India .
Khadgawat R; Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, Delhi, India.
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Źródło :
BMJ case reports [BMJ Case Rep] 2020 Jul 07; Vol. 13 (7). Date of Electronic Publication: 2020 Jul 07.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Dysgerminoma/*surgery
Gonadal Dysgenesis, 46,XY/*surgery
Gonadoblastoma/*surgery
Ovarian Neoplasms/*surgery
Adolescent ; Dysgerminoma/etiology ; Dysgerminoma/pathology ; Female ; Gonadal Dysgenesis, 46,XY/complications ; Gonadal Dysgenesis, 46,XY/pathology ; Gonadoblastoma/etiology ; Gonadoblastoma/pathology ; Humans ; Neoplasms, Multiple Primary/surgery ; Ovarian Neoplasms/etiology ; Ovarian Neoplasms/pathology ; Rare Diseases
Czasopismo naukowe
Tytuł :
Genetic analysis of a Taiwanese family identifies a DMRT3-OAS3 interaction that is involved in human sexual differentiation through the regulation of ESR1 expression.
Autorzy :
Tsai CL; Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Tsai CN; Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Lee YS; Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Taoyuan, Taiwan; Department of Biotechnology, Ming Chuan University, Taoyuan, Taiwan.
Wang HS; Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan.
Lee LY; Department of Pathology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan.
Lin CY; Gynecologic Cancer Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Yang SY; Department of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan; Graduate Institute of Biomedical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Chao A; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan; Gynecologic Cancer Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan. Electronic address: .
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Źródło :
Fertility and sterility [Fertil Steril] 2020 Jul; Vol. 114 (1), pp. 133-143. Date of Electronic Publication: 2020 Jun 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
2',5'-Oligoadenylate Synthetase/*genetics
Estrogen Receptor alpha/*genetics
Gonadal Dysgenesis, 46,XY/*genetics
Hypospadias/*genetics
Sex Differentiation/*genetics
Transcription Factors/*genetics
Transcription Factors, TFII/*genetics
Endoribonucleases/genetics ; Endoribonucleases/metabolism ; Estrogen Receptor alpha/metabolism ; Female ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Gonadal Dysgenesis, 46,XY/diagnosis ; Gonadal Dysgenesis, 46,XY/physiopathology ; HEK293 Cells ; Heredity ; Humans ; Hypospadias/diagnosis ; Hypospadias/physiopathology ; Male ; Pedigree ; Phenotype ; Taiwan ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
Autorzy :
Oziębło D; Department of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.; Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland.
Pazik J; Department of Transplantation Medicine, Nephrology and Internal Diseases, Medical University of Warsaw, 02-091 Warsaw, Poland.
Stępniak I; Department of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.
Skarżyński H; Oto-Rhino-Laryngology Surgery Clinic, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.
Ołdak M; Department of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland.
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Źródło :
Genes [Genes (Basel)] 2020 Sep 08; Vol. 11 (9). Date of Electronic Publication: 2020 Sep 08.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Cell Cycle Proteins/*genetics
Gonadal Dysgenesis, 46,XX/*etiology
Hearing Loss, Sensorineural/*etiology
Kidney Diseases/*physiopathology
Adult ; Female ; Gonadal Dysgenesis, 46,XX/pathology ; Hearing Loss, Sensorineural/pathology ; Homozygote ; Humans ; Male ; Pedigree ; Phenotype
SCR Disease Name :
Gonadal dysgenesis XX type deafness
Czasopismo naukowe
Tytuł :
Editorial Comment: Effects of testicular dysgenesis syndrome componentes on testicular germ cell tumor prognosis and oncological outcomes.
Autorzy :
de Melo AC; Divisão de Pesquisa Clínica, Instituto Nacional do Câncer do Brasil - INCA, Rio de Janeiro, RJ, Brasil.
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Źródło :
International braz j urol : official journal of the Brazilian Society of Urology [Int Braz J Urol] 2020 Sep-Oct; Vol. 46 (5), pp. 741-742.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Gonadal Dysgenesis*
Neoplasms, Germ Cell and Embryonal*
Testicular Neoplasms*
Humans ; Male ; Prognosis
SCR Disease Name :
Testicular Germ Cell Tumor
Opinia redakcyjna
Tytuł :
Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism.
Autorzy :
Takahashi K; Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo, Japan.; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Minato-ku, Tokyo, Japan.
Sato T; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo, Japan.; Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Minato-ku, Tokyo, Japan.
Nishiyama M; Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.
Sasaki A; Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.
Taniguchi K; Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo, Japan.
Migita O; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo, Japan.
Wada S; Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.
Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo, Japan.
Sago H; Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1382. Date of Electronic Publication: 2020 Jun 25.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mosaicism*
Twins, Monozygotic*
Gonadal Dysgenesis, 46,XY/*genetics
Turner Syndrome/*genetics
Abnormal Karyotype ; Aborted Fetus/abnormalities ; Adult ; Female ; Genitalia/embryology ; Genitalia/pathology ; Gonadal Dysgenesis, 46,XY/pathology ; Humans ; Male ; Turner Syndrome/pathology
Czasopismo naukowe
Tytuł :
Hormonal Stimulation in a Gonadal Dysgenesis Mare.
Autorzy :
Larentis GR; REPROLAB - Faculdade de Veterinária, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: .
Bastos HBA; REPROLAB - Faculdade de Veterinária, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
Centeno LAM; REPROLAB - Faculdade de Veterinária, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
Bueno VC; REPROLAB - Faculdade de Veterinária, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
Bringel BA; B.E.T. Laboratories, Lexington, KY.
Mattos RC; REPROLAB - Faculdade de Veterinária, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
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Źródło :
Journal of equine veterinary science [J Equine Vet Sci] 2020 Sep; Vol. 92, pp. 103154. Date of Electronic Publication: 2020 Jun 07.
Typ publikacji :
Case Reports
MeSH Terms :
Gonadal Dysgenesis*/veterinary
Horse Diseases*
Animals ; Estradiol/pharmacology ; Estrogens ; Female ; Horses ; Progesterone ; Receptors, Progesterone
Raport
Tytuł :
[Analysis of TWNK variant in a family affected with Perrault syndrome].
Autorzy :
Chen Z; School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China. .
Tang S
Li H
Xu X
Lyu J
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Jul 10; Vol. 37 (7), pp. 739-742.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gonadal Dysgenesis, 46,XX*/genetics
Hearing Loss, Sensorineural*/genetics
Female ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree ; Pregnancy
SCR Disease Name :
Gonadal dysgenesis XX type deafness
Czasopismo naukowe

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