Results 111 to 120 of about 372,133 (341)

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

The Webometric Evaluation for Hamadan University of Medical Sciences in Comparison with Top-ranked World and Iranian Medical Universities

پژوهان, 2019
Background and Objective: Considering the increasing importance of world web wide for the promotion of scientific/educational level of universities, the quality of web presence has been the center of attention during recent years.
Sajjad Farashi, Saeed Bashirian, Sepideh Zareian   +2 more
doaj  

Raising a Child with Autism Spectrum Disorder: Examining Parental Factors

Psikiyatride Güncel Yaklaşımlar
Autism spectrum disorder is a neurodevelopmental disorder that is quite common today. Although being diagnosed with autism spectrum disorder causes children to face with various difficulties in their lives, raising a child with autism spectrum disorder ...
Ayça Barklı, Aysun Doğan
doaj   +1 more source

Pharmacological intervention for irritability, aggression, and self-injury in autism spectrum disorder (ASD) [PDF]

, 2023
Michelle Iffland, Nuala Livingstone, Mikaela Jorgensen, Philip Hazell, Donna Gillies   +4 more
openalex   +1 more source

درجة الفروق في امتلاك مهارات الضبط الذاتي لدى عينة من الأشخاص الناطقين وغير الناطقين ذوي اضطراب طيف التوحد بدولة الكويت [PDF]

, 2018
The present study aimed at studying the differences in the degree of self-control skills in a sample of spoken and non-spoken persons with autism spectrum disorder in Kuwait.
الزريقات, ابراهيم, الصفران, عبير   +1 more
core  

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

A scoping review of deictic gesture use in toddlers with or at-risk for autism spectrum disorder

Autism and Developmental Language Impairments, 2018
Background and aims Young children use deictic gestures, such as pointing, to indicate referents in their immediate environment. Early deictic gesture use is important in facilitating the development of language.
Stacy S Manwaring, Ashley L Stevens, Alfred Mowdood, Mellanye Lackey   +3 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +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