Results 101 to 110 of about 156,470 (344)

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

Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk. [PDF]

, 2019
BackgroundThe development of an autistic brain is a highly complex process as evident from the involvement of various genetic and non-genetic factors in the etiology of the autism spectrum disorder (ASD). Despite being a multifactorial neurodevelopmental
Gu, Ran, Ji, Yu, Kumar, Santosh, Rai, Sunil, Reynolds, Kurt, Zhou, Chengji J   +5 more
core  

The Relationship between Anxiety, Social Skills Deficit and Autism Spectrum Disorder among Autistic Children in Nairobi, Kenya.

, 2021
Niceta W. Ireri Anne W. Mbwayo Dominics Ayaa
openalex   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

An evaluation of the Cygnet parenting support programme for parents of children with autism spectrum conditions [PDF]

, 2016
Parents of children on the autistic spectrum often struggle to understand the condition and, related to this, manage their child’s behaviour. Cygnet is a parenting intervention which aims to help parents address these difficulties, consequently improving
Anderson, Andy Morris, Bagner, Bailey, Baird, Baron-Cohen, Beresford, Brereton, Brugha, Bryony Beresford, Burns, Cottam, Curtis, Davis, Department of Health, Estes, Eyberg, Eyberg, Fabiano, Faul, Gibaud-Wallston, Gilligan, Ginn, Green, Guttmann-Steinmetz, Hastings, Hawley, Jacobson, Jennifer Beecham, Johnston, Keen, Klauer, Kuhn, Lindsay, Lucy Stuttard, Malow, Morris, NICE, NICE/SCIE, Ohan, Perneger, Pillay, Plant, Raghavan, Robson, Schopler, Shields, Simonoff, Sofronoff, Stevens, Stuttard, Susan Clarke, Tomanik, Webster-Stratton, Whittingham, Willey, Wright, Zarkowska   +57 more
core   +2 more sources

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Oral Health Status of Children with Autistic Spectrum Disorder Compared with Non-authentic Peers

Iranian Journal of Public Health, 2017
Oral Health Status of Children with Autistic Spectrum ...
Işıl Özgül KALYONCU, Ilknur TANBOGA
doaj  

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Sexual and Reproductive Health Needs for Adolescents with Autistic Spectrum Disorder in Rwanda, A Phenomenological Study

Pediatric Health, Medicine and Therapeutics
Dusabirema Immaculée,1 Girum Sebsibie Teshome,2 Dieudonne Kayiranga,2 Philomene Uwimana2 1Department of Operation Room, Rwamagana Level II Teaching Hospital, Rwamagana, Rwanda; 2School of Nursing and Midwifery, College of Medicine and Health Sciences ...
Immaculée D, Teshome GS, Kayiranga D, Uwimana P   +3 more
doaj  

Dental Management of Patients with Autism Spectrum Disorders

Balkan Journal of Dental Medicine, 2015
Dental treatment of patients with Autism Spectrum Disorders (ASD) can be complicated because of the presence of behavioural unpredictability. This article reviews the present literature on the issues dealt with children with autistic spectrum disorder ...
Al Mochamant Iosif-Grigorios, Fotopoulos Ioannis, Zouloumis Lampros   +2 more
doaj   +1 more source