Results 201 to 210 of about 311,384 (302)

Integrating Advances in Personality Science to Re-Examine the Trait Theory of Voice Disorders. [PDF]

J Speech Lang Hear Res
Welch B, Helou LB, Wright A.
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Correction to "Preliminary Evaluation of the Step-by-Step Parenting Program for Expectant Parents With Intellectual Disabilities". [PDF]

J Appl Res Intellect Disabil
europepmc   +1 more source

Long-Term Effects of a Web-Based Exercise Programme for People With Intellectual Disabilities. [PDF]

J Intellect Disabil Res
Fjellström S, Stuffler N, Andersson EP, Nordström A, Wallén EF, Hansen E, Ohlsson ML.   +6 more
europepmc   +1 more source

(2.6) REPLIES TO CORY, EL-BIZRI, MOU AND PESSIN [PDF]

, 2012
Azadpur, Mohammad
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Prevalence and Modifiable Risk Factors of Dementia in People With Down Syndrome: Cross-Sectional Study of Japan in Collaboration With the Intellectual Diversity for Goodness Research Consortium (INDIGO-2019). [PDF]

J Intellect Disabil Res
Takenoshita S, Terada S, Inoue T, Kurozumi T, Takaki M, Kuwano R, Suemitsu S.   +6 more
europepmc   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Using Network Analysis to Understand the Associations Between Menopausal Symptoms and Mental Health in Women With Intellectual Disabilities. [PDF]

J Appl Res Intellect Disabil
Corrigan S, McCallion P, McCarron M, de Vries J, Burke É.   +4 more
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source