Results 91 to 100 of about 279,548 (296)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Autism spectrum disorders [PDF]

The earlier that children with an Autism Spectrum Disorder (ASD) receive referral, diagnosis and intervention, the better the long-term results are for those children and their families (Barbaro & Dissanyake, 2009; Wiggins et al., 2006; Mandell et al.
Centre for Community Child Health
core  

Modeling Autistic Features in Animals [PDF]

, 2011
A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
core   +1 more source

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

Association between polycystic ovary syndrome and risk of attention-deficit/hyperactivity disorder in offspring: a meta-analysis [PDF]

Clinical and Experimental Pediatrics, 2022
Ensiyeh Jenabi
doaj   +1 more source

Neonatal risk factors associated with autism spectrum disorders: an umbrella review [PDF]

Clinical and Experimental Pediatrics
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe social communication deficits and stereotypical repetitive behaviors. Purpose This umbrella review assessed neonatal risk factors associated with ASD using
Amir Mohammad Salehi, Erfan Ayubi, Salman Khazaei, Ensiyeh Jenabi, Saeid Bashirian, Zohreh Salimi   +5 more
doaj   +1 more source

The Effects of Social Stories on the Social Interaction and Behavior of Students with Autism Spectrum Disorders [PDF]

, 2007
Students with disabilities, including those with autism spectrum disorders are increasingly being educated in the general education setting. Professionals working with students with autism spectrum disorders may implement a variety of interventions to ...
Ventimiglia, Alana
core   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Efficacy of clonidine and melatonin for treating insomnia in anxious children: a randomized comparison

BMC Pediatrics
Background Clonidine and melatonin are two medications that are used off-label in the management of sleep disorders in children. However, there is currently no well-established and effective treatment for sleep disturbances among pediatric patients with ...
Ali Jalali Firouzkohi, Helen Behmanesh, Mona Doostizadeh, Alireza Soltanian, Tahere Etesamifard   +4 more
doaj   +1 more source