Results 131 to 140 of about 540,064 (342)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Misogyny, racism, and threats to our families: a qualitative study of harassment of female politicians

Kōtuitui
Politicians from around the world are increasingly subject to harassment, with women disproportionately targeted. Recent changes in the sociopolitical landscape have influenced the nature and intensity of this harassment, with New Zealand being no ...
Rhiannon Watson, Lucy Hammans, Oliver Hansby, Justin Barry-Walsh, Susanna Every-Palmer   +4 more
doaj   +1 more source

COVID-19 and taking care and protection of patients with intellectual disabilities, need special care and equity [PDF]

, 2020
Anwar Faheem, Tayyab Muhammad, Khan Jawad, Haq Ihteshamul   +3 more
openalex   +1 more source

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]

, 2017
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael, Becker, Felicitas, Dalal, Ashwin B, Dutta, Usha R, Gradek, Gyri, Jamali, Payman, Kahrizi, Kimia, Kalscheuer, Vera M, Korenke, Christoph, Lesca, Gaetan, Marco, Elysa, Marshall, Christian R, Mercier, Sandra, Minassian, Berge A, Najmabadi, Hossein, Scherer, Stephen W, Sherr, Elliott, Suckow, Vanessa, Till, Marianne, Walker, Susan, Wiesener, Antje, Yamamoto, Toshiyuki   +21 more
core  

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Poverty, Disability and Social Exclusion: New Strategies for Achieving Inclusive Development [PDF]

, 2005
[Excerpt] Despite international investments in development initiatives targeted to people who have a disability – investments by domestic governments in support to people who have a disability and commitments by governments to international and domestic ...
Laurin-Bowie, Connie
core   +1 more source

Schizophrenia Genetics Modulates Clinical Depressive Features

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti, Daniel Souery, Siegfried Kasper, Joseph Zohar, Stuart Montgomery, Panagiotis Ferentinos, Dan Rujescu, Raffaele Ferri, Giuseppe Fanelli, Chiara Fabbri, Raffaella Zanardi, Francesco Benedetti, Bernhard T. Baune, Julien Mendlewicz   +13 more
wiley   +1 more source

Evaluating the impact of a UK recovery college on mental well-being: pre- and post-intervention study

BJPsych Open
Background Recovery colleges provide personalised educational mental health support for people who self-refer. The research evidence supporting them is growing, with key components and the positive experiences of attendees reported.
Jon Allard, Adam Pollard, Richard Laugharne, Jamie Coates, Julia Wildfire-Roberts, Michelle Millward, Rohit Shankar   +6 more
doaj   +1 more source

Mental health problems in children with intellectual disability: use of the Strengths and Difficulties Questionnaire [PDF]

, 2007
Sara Kaptein, Daniëlle Jansen, A.G.C. Vogels, Sijmen A. Reijneveld   +3 more
openalex   +1 more source