DYSGENESIS

作品数:10被引量:29H指数:3
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Renal Tubular Dysgenesis Associated with Compound Heterozygous ACE Mutations
《Journal of Clinical and Nursing Research》2021年第2期108-112,共5页Yiran Liu Xueyan Wang 
Inherited renal tubular dysgenesis(RTD),a rare,autosomal recessive disorder is caused by mutations in the genes encoding components of the renin-angiotensin pathway:angiotensinogen(AGT),renin(REN),angiotensin-converti...
关键词:Genetic counseling OLIGOHYDRAMNIOS Prenatal diagnosis 
Case Report: Clinical and Diagnostic Aspects of Mayer-Rokitansky-Kuster-Hauser Syndrome
《Health》2019年第10期1367-1372,共6页Lucas Ferreira de Paula Filho Guilherme Carolino Neves Laís Figueira Bandoli Lucas Caraline de Almeida Coelho Nathália de Souza Ferreira Feital Renan Vieira Murad Ana Luísa Conceiç o de Jesus Diana Aristótelis de Sá Larissa Bianca Cunha de Sá Jonathan Mwambire Alberto Krayyem Arbex 
Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) is a rare disease characterized by total or partial vagina agenesis, karyotype 46, XX with normal secondary sexual characters. Still, it is the second leading cause of pr...
关键词:Mayer-Rokitansky-Kuster-Hauser SYNDROME Primary AMENORRHEA Gonadal DYSGENESIS 
Laparoscopic Hemi-Hysterectomy-Retrospective Study of Case Series of over 9 Years
《Open Journal of Obstetrics and Gynecology》2019年第6期845-866,共22页Divyesh V. Shukla Shilpi D. Shukla Amit Shah 
Background: Word hemi-hysterectomy and removal of rudimentary functional horn may be used interchangeably in published data. The same term may be used when a non-obstructive hemi-uterus is removed when there is an ass...
关键词:Hemi-Hysterectomy Mullerian DYSGENESIS Rudimentary Non-Communicating HORNS ESHRE ESGE Unicornuate UTERUS 
Evaluation and management of the child with hypothyroidism被引量:10
《World Journal of Pediatrics》2019年第2期124-134,共11页Alexander K.C.Leung Alexander A.C.Leung 
Background Thyroid hormones are critical for early neurocognitive development as well as growth and development throughout childhood.Prompt recognition and treatment of hypothyroidism is,therefore,of utmost importance...
关键词:DYSGENESIS Dyshormonogenesis HASHIMOTO THYROIDITIS HYPOTHYROIDISM Iodine deficiency LEVOTHYROXINE Mental RETARDATION Stunted growth 
Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis被引量:5
《Asian Journal of Andrology》2018年第6期593-599,共7页Ilya S Dantsev Evgeniy V Ivkin Aleksey A Tryakin Dmitriy N Godlevski Oleg Yu Latyshev Victoriya V Rudenko Dmitry S Mikhaylenko Vyacheslav B Chernykh Elena A Volodko Aleksey B Okulov Oleg B Loran Marina V Nemtsova 
Testicular microlithiasis (TM) is one of the symptoms of testicular dysgenesis syndrome (TDS). TM is particularly interesting as an informative marker of testicular germ cell tumors (TGCTs). KIT ligand gene (KI...
关键词:associations GENOTYPE high risk testicular dysgenesis syndrome testicular microlithiasis 
Anterior segment dysgenesis correlation with epithelial-mesenchymal transition in Smad4 knockout mice被引量:3
《International Journal of Ophthalmology(English edition)》2016年第7期943-947,共5页Jing Li Yu Qin Fang-Kun Zhao Di Wu Xue-Fei He Jia Liu Jiang-Yue Zhao Jin-Song Zhang 
Supported by the National Natural Science Foundation of China(No.81470617;No.81371003);Colleges and Universities Scientific Research Project of Liaoning Province,China(No.L2014305)
AIM: To explore the molecular mechanisms in lens development and the pathogenesis of Peters anomaly in Smad4 defective mice. METHODS: Le-Cre transgenic mouse line was employed to inactivate Smad4 in the surface ect...
关键词:Peters anomaly anterior segment dysgenesis SMAD4 N-CADHERIN Twist2 
Pathological conditions predisposing to infertility and gynaecological neoplasia
《World Journal of Obstetrics and Gynecology》2014年第2期28-34,共7页Bassma Mohamed El Sabaa 
Some of the conditions long blamed for female factor infertility are now acknowledged as well established risk factors of gynecological neoplasia. This realization has lead to the proposition that infertility might be...
关键词:Infertility-gynecological cancer Endome-triosis Polycystic ovary syndrome Ovarian dysgenesis Endometrioid carcinoma Clear cell carcinoma Turner’s syndrome GONADOBLASTOMA Hyperestrogenemia 
A rare diagnosis:testicular dysgenesis with carcinoma in situ detected in a patient with ultrasonic microlithiasis被引量:1
《Asian Journal of Andrology》2005年第4期445-447, ,共3页Christina E.Hoei-Hansen Peter Sommer Ewa Rajpert-De Meyts Niels E.Skakkebaek 
A rare case is presented where a dysgenetic testis with microinvasive carcinoma in situ (CIS, also known as intratubular germ cell neoplasm of unclassified type [IGCNU] and testicular intraepithelial neoplasia [TIN]...
关键词:testicular cancer carcinoma in situ TESTIS MICROLITHIASIS testicular dysgenesis syndrome 
Autosomal aberrations associated with testicular dysgenesis or spermatogenic arrest in Chinese patients被引量:10
《Asian Journal of Andrology》2002年第1期3-7,共5页CuoTH ZhuDY 
A FAMILIAL 46 XY GONADAL DYSGENESIS AND HIGH INCIDENCE OF EMBRYONIC GONADAL TUMORS
《Chinese Journal of Cancer Research》1994年第2期144-148,共5页鄂征 刘伟莉 
The Swyer’s syndrome, 46XY gonadal dysgenesis ( 46XYGD) or XY female, belongs to the category of sexual abnomality. The syndrome is characterized by a female phenotype with streak gonads, 46XY karyotype and complic...
关键词:XY gonadal dysgenesis Gonadal tumor. 
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