Results 131 to 140 of about 112,624 (263)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Challenging large language models' "intelligence" with human tools: A neuropsychological investigation in Italian language on prefrontal functioning. [PDF]

Heliyon
Loconte R, Orrù G, Tribastone M, Pietrini P, Sartori G.   +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

The international Hip Outcome Tool 12 questionnaire (iHOT-12): an Italian language cross-cultural adaptation and validation. [PDF]

J Orthop Traumatol
Randelli F, Fioruzzi A, Clemente A, Radaelli A, Menon A, Di Via D, Caria C, Mazzoleni MG, Buono C, Di Benedetto P, Paciotti M, Papalia R, Fiorentino G, Collarile M, Panasci M, Carulli C, Rosolani M, Rocca FD, Cerulli S, Potestio D, Conati M, Costantini A, Bisciotti GN, Aprato A, Perticarini L, Santori N, Loppini M, Solarino G, Vicenti G, Pavone V, Di Martino A, Rivera F.   +31 more
europepmc   +1 more source

Translation and Validation of the Nomophobia Questionnaire in the Italian Language: Exploratory Factor Analysis. [PDF]

JMIR Mhealth Uhealth, 2018
Adawi M, Bragazzi NL, Argumosa-Villar L, Boada-Grau J, Vigil-Colet A, Yildirim C, Del Puente G, Watad A.   +7 more
europepmc   +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

Evaluation of Psychometric Proprieties of Mann Assessment of Swallowing Ability (MASA) in Italian Language: A Cross-Sectional Study. [PDF]

Brain Sci
Sterbini A, Marroni P, Servadio A, Rossi G, Berardi A, Simeon R, Galeoto G.   +6 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Translation, cross-cultural adaptation, and validation of the Italian language Forgotten Joint Score-12 (FJS-12) as an outcome measure for total knee arthroplasty in an Italian population. [PDF]

BMC Musculoskelet Disord, 2020
Sansone V, Fennema P, Applefield RC, Marchina S, Ronco R, Pascale W, Pascale V.   +6 more
europepmc   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source