Results 231 to 240 of about 1,008,953 (299)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

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Correlates of sexual minority women’s sexual behavior

Women & Health, 2021
Sexual minority women (SMW) experience sociocultural barriers to healthcare access and utilization. A common misconception is that SMW are at lower risk for sexually transmitted infections (STIs). Such stereotypes, coupled with prioritization of reproductive health care for heterosexual women and STI prevention for men, contribute to fewer STI testing ...
Roberta Emetu, Stacy Missari, Emily Hernandez, Vannessa Fuentes   +3 more
openaire   +2 more sources

Trichotillomania in Sexual Minority Individuals

Annals of Clinical Psychiatry, 2023
Trichotillomania is a common psychiatric disorder, but little is known about whether or how it differs in people with minority sexual identities. We sought to understand whether lesbian, gay, bisexual, and other individuals differ from heterosexual individuals in terms of hair pulling and associated characteristics.A total of 207 participants age 18 to
Grant, Jon E., Collins, Madison, Chamberlain, Samuel R., Ehsan, Dustin   +3 more
openaire   +3 more sources

Sexual Minority Youth

Primary Care: Clinics in Office Practice, 2014
This article provides an overview of the medical and mental health needs of the lesbian, gay, bisexual, and transgender (LGBT) youth population. Information is reviewed regarding both primary medical care and the special health risks that these youth face.
John, Steever, Jenny, Francis, Lonna P, Gordon, Janet, Lee   +3 more
openaire   +2 more sources

Sexual and gender minorities in disasters

2022
ISBN:978-0-367-85458 ...
Dominey-Howes, Dale, McKinnon, Scott, Gorman-Murray, Andrew (R16825), Eriksen, Christine E.   +3 more
openaire   +2 more sources

Sexual Orientation Microaggressions and the Experience of Sexual Minorities

Journal of Homosexuality, 2013
This qualitative study sought to confirm and expand on previous research on sexual orientation microaggressions--subtle discrimination in the form of verbal, behavioral, and environmental slights and indignities as defined by Sue (2010). The study had two primary research questions: Does the data from the sample validate Sue's (2010) typology of sexual
Lisa F, Platt, Alexandra L, Lenzen
openaire   +2 more sources