Results 151 to 160 of about 3,322,307 (330)

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter, Richard Hastings, Nicola Enoch, Samantha Flynn, Matthew Randell, Chris Stinton   +5 more
wiley   +1 more source

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

Review of the tribe Melolonthini in the southeastern United States (Coleoptera: Scarabaeidae: Melolonthinae) [PDF]

, 2003
This paper reviews the tribe Melolonthini (Scarabaeidae, Melolonthinae) in the southeastern United States, primarily in the states of Mississippi, Alabama, Georgia, and northern Florida.
Skelley, Paul E.
core   +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

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
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

The Impact of the Parental Patterns of Morbidity and Comorbidity in the Cross‐Generational Transmission of Risk for Major Depression and Alcohol Use Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT To further understand the inter‐relationship of the familial transmission of major depression (MD) and alcohol use disorder (AUD), we examine, via a multivariable Cox proportional hazards model, risks for AUD and MD in 1,244,516 individuals born in Sweden from 1970 to 1990 to intact mother–father pairs as a function of parental diagnoses of MD
Kenneth S. Kendler, Linda Abrahamsson, Jan Sundquist, Kristina Sundquist   +3 more
wiley   +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

Rapid differentiation and asynchronous coevolution of male and female genitalia in stink bugs

Journal of Evolutionary Biology, 2017
Bruno C. Genevcius, Bruno C. Genevcius, Daniel S. Caetano, C. Schwertner   +3 more
semanticscholar   +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