Results 131 to 140 of about 244,000 (312)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 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

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Sleep and Neurodevelopmental Disorders [PDF]

Neuropediatrics, 2015
openaire   +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

Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion

, 2022
Asmat Ullah, Abid Ali Shah, Majed Alluqmani, Nighat Haider, Hasan Aman, Fatima Alfadhli, Ahmed Almatrafi, Alia M. Albalawi, Jai Krishin, Fati Ullah Khan, Bilal Ali Anjam, Abdullah, Elionora Peña Lozano, Abdus Samad, Wasim Ahmad, Torben Hansen, Kun Xia, Sulman Basit   +17 more
openalex   +2 more sources

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs [PDF]

, 2021
Martina Servetti, Livia Pisciotta, Elisa Tassano, Maria Cerminara, Lino Nobili, Silvia Boeri, Giulia Rosti, Margherita Lerone, Maria Teresa Divizia, Patrizia Ronchetto, Aldamaria Puliti   +10 more
openalex   +1 more source

Pediatric Developmental Screening: Understanding and Selecting Screening Instruments [PDF]

, 2008
Based on a review of research on developmental screening instruments, provides a manual for selecting and applying tools for screening for both general and specific problems.
Dennis Drotar, Paul Dworkin, Terry Stancin   +2 more
core  

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Multilevel factors associated with sleep duration and bedtime regularity in U.S. children with and without neurodevelopmental disorders: a nationally representative study [PDF]

Freda Patterson, Shannon M. Robson, Lauren Covington, Carissa M. Baker‐Smith, Shannon Mayberry, Ben Brewer, Zugui Zhang, Anjana Bhat   +7 more
openalex   +1 more source