Results 251 to 260 of about 61,362 (345)

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

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Complications and outcomes following injection of foreign material into the male external genitalia for augmentation: a single-centre experience and systematic review. [PDF]

Int J Impot Res
Pang KH, Randhawa K, Tang S, Fallara G, Katelaris A, Castiglione F, Ahmed K, Blecher G, Christopher N, Ralph DJ, Muneer A, Alnajjar HM.   +11 more
europepmc   +1 more source

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

Refractory cutaneous Crohn's disease of the external genitalia in a female.

Indian J Sex Transm Dis AIDS, 2020
Goyal P, Nijhawan S, Nijhawan M, Agrawal S.   +3 more
europepmc   +1 more source

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

“That grey area where no one can help”: The experience of younger people avoiding or leaving residential aged care who are not NDIS participants

Australian Journal of Social Issues, EarlyView.
Abstract Living in residential aged care (RAC) can have deleterious effects on the health, well‐being and social participation of younger people (<65 years of age). This research examined the barriers and enablers to leaving or avoiding RAC for Australian younger people who are not National Disability Insurance Scheme (NDIS) participants. It reports on
Barrie Shannon, Caroline Hart, Stella Koritsas, Keith McVilly   +3 more
wiley   +1 more source

Cutaneous Diseases of the External Genitalia [PDF]

Journal of the Korean Medical Association, 2008
openaire   +1 more source

Philanthropy and Indigenous Initiatives: Insights From Australian Donors

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper draws on a survey and interview data, collected from a group of 180 donors who made monetary gifts to an Australian higher education institution, to better understand what drives individuals and organisations to donate to Indigenous initiatives.
Celina McEwen, Christopher Bajada, Deborah Cotton, Kevin Wallace, David S. Waller   +4 more
wiley   +1 more source