Results 211 to 220 of about 28,197 (289)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

The Influence of Changes in Dental Care Coverage on Dental Care Utilization Among Retirees and Near-Retirees in the United States, 2004–2006

, 2011
Richard J. Manski, John F. Moeller, Patricia A. St. Clair, Jody Schimmel, Haiyan Chen, John V. Pepper   +5 more
openalex   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Impact of COVID-19 on Dental Care Utilization and Oral Health Conditions in the United States. [PDF]

JDR Clin Trans Res
Choi SE, Mo E, Sima C, Wu H, Thakkar-Samtani M, Tranby EP, Frantsve-Hawley J, Barrow JR.   +7 more
europepmc   +1 more source

Shifting Child Protection Assessments From a Deficit Focus to Assessments Informed by Strengths and Protective Factors: Translating Research Knowledge to Practice

Australian Journal of Social Issues, EarlyView.
ABSTRACT Child protection systems play a critical role in preventing and responding to child maltreatment, yet practices are often predominantly deficit focused. This paper presents a rapid literature review on the strengths, protective factors, and cultural considerations to inform child protection assessment.
Gabrielle R. Hunt, Carmela Bastian, Luke Cantley, Ulrike Marwitz, Daryl J. Higgins   +4 more
wiley   +1 more source