Results 81 to 90 of about 18,861 (235)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Transient and steady-state auditory gamma-band responses in first-degree relatives of people with autism spectrum disorder

Molecular Autism, 2011
Background Stimulus-related γ-band oscillations, which may be related to perceptual binding, are reduced in people with autism spectrum disorders (ASD). The purpose of this study was to examine auditory transient and steady-state γ-band findings in first-
Rojas Donald C, Teale Peter D, Maharajh Keeran, Kronberg Eugene, Youngpeter Katie, Wilson Lisa B, Wallace Alissa, Hepburn Susan   +7 more
doaj   +1 more source

Are phonological processing deficits part of the broad autism phenotype?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2004
AbstractTwo tests of phonological processing, nonword repetition, and nonsense passage reading, were administered to 80 probands with autistic disorder or PDDNOS (index cases) and 59 typically developing controls, together with their parents and siblings.
Bishop, D, Mayberry, M, Wong, D, Maley, A, Hill, W, Hallmayer, J   +5 more
openaire   +2 more sources

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos, Natasha Monte, Kaio Evandro Cardoso Aguiar, Rita de Cássia Calderaro, Aline Pasquini Santos, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐Dos‐Santos, Sandro José De Souza, Ândrea Ribeiro‐Dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos, Ney Pereira Carneiro Dos Santos   +11 more
wiley   +1 more source

Beyond Simple Mimicry: Next‐Generation Geometric Architectures and Future Paradigms in Small‐Molecule and Macrocyclic Peptidomimetics

Angewandte Chemie, EarlyView.
Peptide‐to‐Small Molecule Paradigm: Peptidomimetics have evolved from simple mimicry toward drug‐like scaffolds supported by increasing clinical successes. This Perspective highlights the geometric design principles—linear repetition, convergent fusion, and cyclization—defining the next‐generation peptidomimetic architectures capable of targeting ...
Jesang Lee, Sumin Son, Jeong Yeon Yoo, Ji Hyae Lee, Meehyun Chun, Seung Bum Park   +5 more
wiley   +2 more sources

Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach

Case Reports in Psychiatry, 2019
Introduction. Cognitive and behavioural problems associated with Neurofibromatosis type 1 (NF1) are common sources of distress and the reasons behind seeking help.
Ana Moscoso, Aurélie Julien, Antoine Tanet, Angèle Consoli, Martine Pagnard, France Trevisan, Isabelle Kemlin, Diana Rodriguez, David Cohen   +8 more
doaj   +1 more source

A 1.37-Mb 12p11.22–p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22–p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior ...
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Wayseen Wang   +6 more
doaj   +1 more source