Results 131 to 140 of about 1,437,159 (301)

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Temperament and Character in Childhood-Onset Neurodevelopmental Disorders (Autism Spectrum Disorders and ADHD)

, 2019
Neurodevelopmental disorders, such as Autism Spectrum Disorders (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD), express aberrant neurocognitive functions in social communication, flexibility, and executive control from an early age, not seldom
Anckarsäter, Henrik,, Nilsson, Thomas,, Råstam, Maria,, Ståhlberg, Ola,, Garcia, Danilo,   +4 more
core   +1 more source

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

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

A scalable Tn5-based method for genome-wide DNA methylation profiling in development and disease

Nature Communications
DNA methylation is a key epigenetic modification involved in development and disease, including cancer, and serves as a biomarker for diagnosis. Current detection methods, such as bisulfite sequencing, provide base-pair resolution but require high ...
Hanrong Hu, Nahuel Simonet, Ece Naz Bilgiç, Heather Murray, Regina Reimann, Markus Rechsteiner, Fides Zenk   +6 more
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

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

Corpus Callosum Abnormalities at Term-Equivalent Age Are Associated with Language Development at 2 Years’ Corrected Age in Infants Born Very Preterm

Journal of Pediatrics: Clinical Practice
We studied the effect of microstructural abnormalities in the corpus callosum on language development in 348 infants born very prematurely. We discovered that the fractional anisotropy of the corpus callosum anterior midbody was a significant predictor ...
Katsuaki Kojima, MD, PhD, MPH, Julia E. Kline, PhD, Mekibib Altaye, PhD, Beth M. Kline-Fath, MD, Nehal A. Parikh, DO, MS, Armin Allahverdy, PhD, Mekibib Altaye, PhD, Anita Arnsperger, RRT, Traci Beiersdorfer, RN, BSN, Kaley Bridgewater, RT(MR), CNMT, Tanya Cahill, MD, Kim Cecil, PhD, Kent Dietrich, RT, Christen Distler, BSN, RNC-NIC, Juanita Dudley, RN, BSN, Brianne Georg, BS, Meredith Glover, BS, Cathy Grisby, RN, BSN, CCRC, Lacey Haas, RT(MR), CNMT, Karen Harpster, PhD, OT/RL, Lili He, PhD, Scott K. Holland, PhD, V.S. Priyanka Illapani, MS, Kristin Kirker, CRC, Julia E. Kline, PhD, Beth M. Kline-Fath, MD, Hailong Li, PhD, Matt Lanier, RT(MR), RT(R), Stephanie L. Merhar, MD, MS, Greg Muthig, BS, Brenda B. Poindexter, MD, MS, David Russell, JD, Kar Tepe, BSN, RNC-NIC, Leanne Tamm, PhD, Julia Thompson, RN, BSN, Jean A. Tkach, PhD, Hui Wang, PhD, Jinghua Wang, PhD, Brynne Williams, RT(MR), CNMT, Kelsey Wineland, RT(MR), CNMT, Sandra Wuertz, RN, BSN, CCRP, Donna Wuest, AS, Weihong Yuan, PhD   +42 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

Neurodevelopmental and neurobehavioral disorders

Translational Pediatrics, 2020
Patel, Dilip R., Merrick, Joav
openaire   +2 more sources