Results 231 to 240 of about 384,421 (314)
Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons +6 morewiley +1 more sourceAge-standardized years lived with disability (YLD) due to types HHA in the WHO African Region, 2000–2021.
Temitope T Ojo (13268562), Prince M Amegbor (18709930), Farha Islam (19850826), Joyce Gyamfi (3293661), Andi Mai (22291001), Carly M Malburg (22291004), Deborah B Adenikinju (22291007), Nicholas J Kassebaum (8383509), Shimelis Tadesse Abebe (19184107), Richard Gyan Aboagye (11062921), Ganiyu Adeniyi Amusa (18346479), Seth Christopher Yaw Appiah (8673417), Haftu Asmerom Asmerom (19715341), Isaac Sunday Chukwu (17255680), Tadesse Asmamaw Dejenie (12197236), Fitsum Wolde Demisse (18301738), Gashaw Dessie (11512858), Mengistie Diress (10136788), Christopher Imokhuede Esezobor (18474798), Habitu Birhan Eshetu (13267716), Adeniyi Francis Fagbamigbe (4344979), Sefineh Fenta (22291010), Teferi Gebru Gebremeskel (8544399), Segun Emmanuel Ibitoye (9154130), Robel Hussen Kabthymer (10105700), Woldeteklehaymanot Dagne Kassahun (19136566), Biruk Getahun Kibret (19912263), Osaretin Christabel Okonji (16415994), Prof Mayowa O Owolabi (22291013), Prof Léon Muepu M Tshilolo (22291016), Berhanu Woldu (3555188), Emmanuel K Peprah (9714998) +31 moreopenalex +1 more sourceMilestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel +13 morewiley +1 more sourcePrenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li +13 morewiley +1 more sourceGeographical distribution of rate of disability-adjusted life years (DALYs), years lived with disability (YLDs), and years of life lost (YLLs) of child and adolescents causes of death among females in 1990 and 2021 in Iran.
Bahareh Gholami (21587293), Mohammad-Mahdi Bastan (18802642), Samira Gholami (5571569), Azar Nejati (21587296), Sepehr Khosravi (7581323), Mohammad-Reza Malekpour (10116358), Nazila Rezaei (6208433), Sarvenaz Shahin (11825387), Ali Golestani (4651399) +8 moreopenalex +1 more source