Results 121 to 130 of about 19,233 (265)

sj-docx-1-aut-10.1177_13623613241228887 – Supplemental material for The Broad Autism Phenotype–International Test (BAP-IT): A two-domain-based test for the assessment of the broad autism phenotype

Supplemental material, sj-docx-1-aut-10.1177_13623613241228887 for The Broad Autism Phenotype–International Test (BAP-IT): A two-domain-based test for the assessment of the broad autism phenotype by Marta Godoy-Giménez, Ángel García-Pérez, Fernando ...
Fernando Cañadas (17983165), Marta Godoy-Giménez (17983162), Pablo Sayans-Jiménez (8297862), Angeles F Estévez (17983168), Ángel García-Pérez (4663060)   +4 more
core   +1 more source

The Broad Autism Phenotype Within Mother-Child Interactions [PDF]

, 2012
This study sought to identify features of the Broad Autism Phenotype (BAP) expressed by mothers during interactions with their infants to further understand how these features relate to early indicators of autism.
Royster, Christina
core  

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

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes. [PDF]

J Autism Dev Disord, 2022
Klusek J, Thurman AJ, Abbeduto L.
europepmc   +1 more source

Developmental Regression in Autism Spectrum Disorders and the Broad Autism Phenotype

, 2017
This study examined the relationship between the Broad Autism Phenotype (BAP) and developmental regression in children with Autism Spectrum Disorders. A sample of 2757 children and adolescents with autism spectrum disorders was drawn from the Simons Simplex Collection, an archival database administered by the Simons Foundation Autism Research ...
openaire   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

The impact of early synchronized gestures by parents with more pronounced broader autism phenotype traits on language skills of children with autism spectrum disorder

Xin yixue
Objective To investigate the impact of broad autism phenotype (BAP) characteristics in early parent-child interactions on gesture use and the language abilities of children with Autism Spectrum Disorder (ASD) within families affected by ASD. Methods From
Shaoli LÜ, Yixiang XIE, Linru LIU, Qianying YE, Hongzhu DENG   +4 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source