Results 191 to 200 of about 1,136,241 (298)

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

Validation of the Japanese version of the Kenny Music Performance Anxiety Inventory-Revised. [PDF]

Front Psychol
Takagi S, Yoshie M, Murai A.
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Corrigendum: It's not a virus! Reconceptualizing and de-pathologizing music performance anxiety. [PDF]

Front Psychol
Herman R, Clark T.
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Associations between social support and help-seeking intention regarding music performance anxiety among Chinese music students: mediation via resilience and self-compassion. [PDF]

Front Psychol
Sun J, Zhong L, Zhou X, Li Z, Liu Q, Liu Y.   +5 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

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

Re-validation of the Kenny Music Performance Anxiety Inventory-revised among Chinese university students majoring in vocal music. [PDF]

Front Psychol
Pan L, Chen Q, Lou L, Gu Q, Luo H, Li P, Liu Y.   +6 more
europepmc   +1 more source