Results 241 to 250 of about 2,029,501 (379)

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires‐Sanchez, Bianca E. Russell   +4 more
wiley   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Faculty Opinions recommendation of A relative shift in cloacal location repositions external genitalia in amniote evolution.

, 2014
Beatriz Sosa‐Pineda, Yiannis Drosos
openalex   +1 more source

Uncovered diversity of a predominantly Andean butterfly clade in the Brazilian Atlantic Forest : a revision of the genus Praepedaliodes Forster (Lepidoptera : Nymphalidae, Satyrinae, Satyrini) [PDF]

, 2017
Barbosa, E. P., Boyer, P., Casagrande, M. M., Dias, F. M. S., Dolibaina, D. R., Freitas, A. V. L., Lorenc-Brudecka, Jadwiga, Magaldi, L. M., Mielke, O. H. H., Pyrcz, Tomasz   +9 more
core   +1 more source

Recent Injuries of External Genitalia: Clinical Aspects and Management

, 2015
Kimassoum Rimtebaye, Mignagnal Kaboro, Arya Zarif Agah Tashkand, Franklin Danki Sillong, Lamine Niang, Gueye Serigne Magueye   +5 more
openalex   +2 more sources

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Meeting report on the NIDDK/AUA Workshop on Congenital Anomalies of External Genitalia: challenges and opportunities for translational research. [PDF]

J Pediatr Urol, 2020
Stadler HS, Peters CA, Sturm RM, Baker LA, Best CJM, Bird VY, Geller F, Hoshizaki DK, Knudsen TB, Norton JM, Romao RLP, Cohn MJ.   +11 more
europepmc   +1 more source

Trauma of External Genitalia by Firearm: Therapeutic Strategy and Result, about a Case at CHU-YO, Ouagadougou, Burkina Faso

, 2016
Clotaire Alexis Marie Kiemdiba Donega Yaméogo, Brahima Kirakoya, Moussa Kaboré, Fasnéwindé Aristide Kabore, Bienvenue D. Ky, Boukary Kabré, B. Zango   +6 more
openalex   +2 more sources

A scoping review of non‐binary research in “Australian” social sciences: Community, solidarity, resilience and resisting marginalisation

Australian Journal of Social Issues, EarlyView.
Abstract Non‐binary and genderqueer identities are increasingly discussed in public discourse and academia, but there remains a dearth of academic literature centred on non‐binary people's lives and experiences. When non‐binary people are included in research, it is frequently as an additive to explorations of trans identities and subsumed under the ...
Lucy Nicholas, Sal Clark, Chloe Falzon
wiley   +1 more source

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia [PDF]

J Clin Res Pediatr Endocrinol, 2020
Işık E, Onay H, Atik T, Solmaz AE, Özen S, Çoğulu Ö, Darcan Ş, Özkınay F.   +7 more
europepmc   +1 more source