云南高校图书馆联盟文献共享服务平台- AGENESIS

检索规则说明：AND代表“并且”；OR代表“或者”；NOT代表“不包含”；(注意必须大写,运算符两边需空一格)

检索范例：范例一： (K=图书馆学 OR K=情报学) AND A=范并思　　　　范例二：J=计算机应用与软件 AND (U=C++ OR U=Basic) NOT M=Visual

全部期刊核心期刊 EI来源期刊 SCI来源期刊 CA来源期刊 CSCD来源期刊 CSSCI来源期刊

Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome: 《Journal of Otology》2025年第2期67-71,共5页Sijing Chen Zixuan Yang Maoxin Wang Cuiping Zhong; Branchio-oto-renal(BOR)syndrome is an uncommon disorder inherited in an autosomal dominant manner.Its main clinical manifestations include branchial cleft cysts,anterior auricular fistula,hearing impairment,and kidney...; 关键词：Branchio-oto-renal syndrome GREB1L Hearing loss Kidney agenesis

Mayer Rokitansky Küster Hauser Syndrome as a Cause of Infertility and Primary Amenorrhoea: A Case Report: 《Open Journal of Obstetrics and Gynecology》2024年第12期1801-1806,共6页Tidiani Traoré Hamidou Toungara Famakan Kané Kassoum Sidibé Oumar S. Coulibaly Seydou Z. Dao Mamadou Touré Seydou Traoré Brahima Donigolo Babou Traoré Adama Coulibaly Abdourahamane Diarisso Birama Traoré Alima Sidibé Apha Sanogo Amadou Bocoum Seydou Fané Youssouf Traoré Ibrahim Teguété Niani Mounkoro Amadou Dolo; Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare congenital disorder that occurs during foetal development. MRKH is characterised by agenesis of the uterus and part of the vagina. Its exact aetiology is still...; 关键词：Rokitansky Syndrome Müllerian Ducts Uterine Agenesis

Pancreatic agenesis and altered m6A methylation in the pancreas of PDX1-mutant cynomolgus macaques: 《Zoological Research》2024年第6期1188-1200,共13页Wen-Hui Zhang Jiong-Han Zhuang Yun-Yi Guo Xue-Ying Chen Ya-Qing Li Jie-Qiu Xu An-Ran Zhang Bao-Yi Chen Wei Meng Yan-Hua Zhu Jun-Jiu Huang Yong-Long Guo Shi-Hua Yang; supported by the National Key R&D Program of China(2018YFA0801404,2023YFC3403400);National Natural Science Foundation of China(81941006,32371190,32370878);Guangdong Special Support Program(2019BT02Y276,2024A1515012868);Double First-Class Discipline Promotion Project(2023B10564003);Program for Scientific Research Start-up Funds of Guangdong Ocean University(060302052408)。; As an essential transcriptional activator,PDX1 plays a crucial role in pancreatic development andβ-cell function.Mutations in the PDX1 gene may lead to type 4 maturityonset diabetes of the young(MODY4)and neonatal di...; 关键词：PDX1 MODY4 Cynomolgus macaques M6A methylation modification

Is unilateral cerebellum sufficient?Insights from new cases of cerebellar agenesis and literature review: 《Psychoradiology》2024年第1期223-227,共5页Dingmei Deng Bo Tao Yizhi Yuan Yongsheng Ao Lihua Qiu; The clinical manifestations of adult-acquired cerebellar diseases often surpass those of congenital cerebellar diseases,suggesting the significant role of the cerebellum in the developing brain.Moreover,emerging evide...; 关键词：CEREBELLUM cases MAINTAIN

Congenital Absence of Pericardium:The Largest Systematic Review in the Field on 247 Worldwide Cases(1977-Now): 《Congenital Heart Disease》2023年第6期595-610,共16页Pier Paolo Bassareo Aurelio Secinaro Paolo Ciliberti Massimo Chessa Marco Alfonso Perrone Kevin Patrick Walsh Colin Joseph Mcmahon; Background:Congenital absence of pericardium(CAP),also known as pericardial agenesis,represents an uncommon cardiac abnormality and mostly incidental finding.It can be subdivided into complete and partial(left or righ...; 关键词：Congenital absence pericardium pericardial agenesis ELECTROCARDIOGRAPHY ECHOCARDIOGRAPHY computed tomography cardiac magnetic resonance imaging

Importance of accurate diagnosis of congenital agenesis of the gallbladder from atypical gallbladder stone presentations:A case report: 《World Journal of Clinical Cases》2023年第28期6864-6870,共7页Hai-Jian Sun Fei Ge Yue Si Zheng Wang Hai-Bo Sun; BACKGROUND Congenital agenesis of the gallbladder(CAGB)is a rare condition often misdiagnosed as cholecystolithiasis,leading to unnecessary surgeries.Accurate diagnosis and surgical exploration are crucial in patients...; 关键词：Congenital agenesis of the gallbladder Absent gallbladder Biliary tract anomalies Case report

Left Nostril Agenesis in a Fetus with VACTERL Association: A Case Report: 《Open Journal of Obstetrics and Gynecology》2023年第4期693-698,共6页Martha Martínez-Gómez Elena Satorres-Pérez Alicia Martínez-Varea; VACTERL association represents a rare condition with a broad spectrum of coexisting congenital abnormalities. Although a multifactorial origin has been described, the etiology is still unclear. Prenatal diagnosis can ...; 关键词：VACTERL Association Nostril Agenesis Fetal Ultrasound Fetal MRI

Azoospermia:vasal agenesis: 《Asian Journal of Andrology》2022年第1期1-4,共4页J Sam Fisher Edward D Kim; SPECIFIC GENETIC TESTS(CFTR AND INTRON 8 SPLICE VARIANT TESTING)AND THEIR SIGNIFICANCE Congenital bilateral absence of the vas deferens(CBAVD)and cystic fibrosis(CF)began as separate entities with an apparent clinical...; 关键词：correlation. CLINICAL FIGURE

A Case Report: Challenge in Treatment of a Rare Condition of Gonadal Agenesis and Bipolar Disease: 《Open Journal of Endocrine and Metabolic Diseases》2021年第12期181-185,共5页Aytan Mammadova Dhivya Pahwa Wefag Ahmed Mohd Elmugtaba Ibrahim Nunlee-Bland Gail Anteneh Zenebe Wolali A. Odonkor; Background: We report a rare case of congenital bilateral testicular agenesis who presented with a suicide attempt. We pose the question of testosterone therapy could improve his mental health.; 关键词：Congenital Anorchia Gonadal Agenesis Suicide Attempt Bipolar Disease HYPOGONADISM

Zinner’s Syndrome: A Confusing Diagnosis in the Face of Chronic Disabling Perineoscrotal Pain in the Young Subject, about a Case: 《Case Reports in Clinical Medicine》2021年第5期141-145,共5页Ntambwe Nkashama Jean-Louis Mouhssine Errehan Kwizera Juvenal Mamoutou Mody Keita Lakmichi Mohamed Amine Dahami Zakaria Moudouni Mohamed Sarf Ismail; Zinner syndrome is a rare congenital malformation related to an abnormality in the development of the Wolffian duct, the clinical picture of which consists of a triad of unilateral renal agenesis, ipsilateral seminal ...; 关键词：AGENESIS Congenital Malformation KIDNEY Perineoscrotal Pain Seminal Vesicles Zinner’s Syndrome

AGENESIS