Results 121 to 130 of about 8,409,709 (279)

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

Intellectual disability and mental health [PDF]

, 2012
This chapter will examine health and social policy with special reference to people with intellectual disabilities in the UK, and explore the severe health inequalities they experience.
Raghavan, Raghu
core  

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Differential Water Networks Guide Selectivity Optimization of a Cell Active BPTF Inhibitor in Neuroblastoma

Angewandte Chemie, EarlyView.
BZ2 is a second‐generation Bromodomain PHD finger Transcription Factor (BPTF) inhibitor with improved selectivity over Class I and Class IV BRD off‐targets identified in our previously reported inhibitor, BZ1. Structural analyses reveal that water network engagement is key to this selectivity.
Kesavan Babu, Chun‐Ju Tsou, Sourav Das, Liying Fan, Anasuya Pal, Molly Sneddon, Timothy R. Stachowski, Priyanka Samanta, Stanley Nithianantham, Caroline Buchholz, Shi Zhang, Xiang Fu, Rahul S. Kathayat, Wenwei Lin, Yongtao Li, Lei Yang, Taosheng Chen, Marcus Fischer, Anang A. Shelat, William C. K. Pomerantz   +19 more
wiley   +2 more sources

Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review

Frontiers in Pediatrics
BackgroundAlpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene.
F. F. Comisi, C. Soddu, M. Corpino, M. Marica, R. Cacace, T. Foiadelli, S. Savasta   +6 more
doaj   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism

npj Genomic Medicine
X-linked intellectual disability (XLID) comprises a group of heterogeneous disorders associated with impaired cognitive function and developmental delays.
Courtney Matheny-Rabun, Lynda Holloway, Ken Corning, Raymond Louie, PoNien Lu, Thomas Smol, Simon Boussion, Emily Woods, Diana Johnson, Catherine Williams, Richard Steet, Michael Friez, Gavin Arno, Roger Stevenson, Heather Flanagan-Steet   +14 more
doaj   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability. [PDF]

Neurol Genet, 2022
Wu PM, Yu WH, Chiang CW, Wu CY, Chen JS, Tu YF.   +5 more
europepmc   +1 more source