Results 111 to 120 of about 174,979,501 (287)

Weir Family History - Accession 715 no. 119 [PDF]

, 2015
The Weir Family History was compiled by Mary Lynn Weir in 1979 (number 5 of 50) titled The Weirs: A Scotch Family From Antrim Ireland. The history provides information on the Weirs of Chester County, South Carolina and historical background on the ...
Family History - Weir Family
core  

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Incidence and clinical predictors of epilepsy after febrile seizures in children: A prospective cohort study in Vietnam

Epilepsia Open
Objective Febrile seizures (FS) are common and usually self‐limited, yet a subset of children develop epilepsy. Early risk stratification remains challenging, particularly in resource‐limited settings with limited access to long‐term neurologic follow‐up.
Anh H. Bui, Van K. T. Le, Hong K. Tang
doaj   +1 more source

Epilepsy: when family history holds the key to diagnosis [PDF]

Progress in Neurology and Psychiatry, 2016
Baba M Aji, Philip Milburn-McNulty, Andrew J Larner   +2 more
openaire   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Wainner Family History - Accession 715 no. 117

, 2015
The Wainner Family History consists of a book titled The Family History of Wainner, Overton, McMurr(a)y, and Interconnecting Lines which was written by Merle Wainner Jeter, George D. Wainner, and others (1972).
Family History - Wainner Family
core   +1 more source

Co-morbidity of attention deficit hyperactivity disorder (ADHD) and epilepsy in children seen in University of Nigeria Teaching Hospital Enugu: Prevalence, clinical and social correlates

Nigerian Postgraduate Medical Journal, 2014
Aims and objectives: - To determine the prevalence of ADHD, epilepsy co-morbidity and social and clinical correlates in Nigerian children. Patients and methods: - A cross-sectional study of 113 children with epilepsy was carried out and assessed for ...
Ibekwe Roland Chidi, Ndukuba Appolos Chidi, Aronu Ann Ebele, Ojinnaka Ngozi Chinyelu   +3 more
doaj  

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

Neuropsychology and behavior in juvenile myoclonic epilepsy

, 2013
Following decades of neglect, there has been an increasing interest in the behavioral aspects of juvenile myoclonic epilepsy (JME) in the recent literature.
Feucht, Martha, Hermann, Bruce, Yacubian, Elza Márcia Targas [UNIFESP], Schmitz, Bettina, Trimble, Michael   +4 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source