Results 71 to 80 of about 22,500 (254)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Language Use and International Business: What Can We Learn from Anthropology?

Hermes, 2007
This article addresses the role of language use in international business. It argues that the impact of linguistic differences on the daily workings of international business activities and communication is shaped by the way in which these differences ...
Jakob Lauring, Toke Bjerregaard
doaj   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Cross-Linguistic Variation in the Treatment of Beneficiaries and the Argument vs. Adjunct Distinction

Linguistic Discovery, 2014
This paper compares the expression of beneficiaries with that of typical arguments and typical adjuncts in a sample of languages illustrating the variation in the extent to which NPs encoding beneficiaries show a syntactic behavior more or less similar ...
Denis Creissels
doaj   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Cross-language differences in Arabic–English translation of Surat Quraysh: a variation theory approach

Cogent Arts & Humanities
This study explores the cross-language variation in the English translation of Surat Quraysh in the context of Variation Theory with linguistic, cultural, and aesthetic considerations.
Ali Mohammed Saleh Al-Hamzi
doaj   +1 more source

Control, temporal orientation, and the cross-linguistic grammar of trying

Glossa, 2017
The verb try plays a starring role in many example sentences in the control literature. But one of its most basic properties has eluded satisfying explanation: for many speakers of English, try rejects non-control infinitival complements, as in %I tried ...
Thomas Grano
doaj   +2 more sources

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source