Results 101 to 110 of about 21,177 (293)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

African trypanosomes

Parasites & Vectors, 2019
African trypanosomes cause human African trypanosomiasis and animal African trypanosomiasis. They are transmitted by tsetse flies in sub-Saharan Africa.
Mathieu Cayla, Federico Rojas, Eleanor Silvester, Frank Venter, Keith R. Matthews   +4 more
doaj   +1 more source

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

Bayesian geostatistical analysis and prediction of Rhodesian human African trypanosomiasis

, 2010
BackgroundThe persistent spread of Rhodesian human African trypanosomiasis (HAT) in Uganda in recent years has increased concerns of a potential overlap with the Gambian form of the disease.
Fevre, Eric M., Welburn Susan C., Peter M Atkinson, Kakembo, A.S., Peter W Gething, Kakembo, Abbas S. L., Susan C Welburn, Wardrop, Nicola A., Peter W. Gething, Picozzi, K., Picozzi, K, Atkinson Peter M., Nicola A. Wardrop, Gething, Peter W., Peter M. Atkinson, Susan C. Welburn, Fèvre Eric M., Picozzi, Kim, Kakembo, Abbas S.L., Kakembo, AS, Wardrop, N.A., Eric M. Fèvre, Gething, PW, Gething, P.W., Eric M Fèvre, Fèvre, EM, Kakembo, ASL, Wardrop Nicola A., Kakembo Abbas S. L., Wardrop, NA, Abbas S L Kakembo, Nicola A Wardrop, Welburn, SC, Atkinson, PM, Kim Picozzi, Picozzi Kim, Atkinson, Peter M., Welburn, Susan C., Atkinson, P.M., Abbas S. L. Kakembo, Gething Peter W.   +40 more
core   +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

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Stage progression and neurological symptoms in Trypanosoma brucei rhodesiense sleeping sickness: role of the CNS inflammatory response [PDF]

, 2012
Background: Human African trypanosomiasis progresses from an early (hemolymphatic) stage, through CNS invasion to the late (meningoencephalitic) stage.
MacLean, L., Peter G. E. Kennedy (126080), MacLean Lorna, Sternberg, J.M., Sternberg, Jeremy M, Peter G E Kennedy, Hansotto Reiber (126078), Sternberg Jeremy M., Reiber, H., Kennedy Peter G. E., Jeremy M Sternberg, Kennedy, Peter G E, Lorna MacLean, MacLean, Lorna, Lorna MacLean (126077), Jeremy M. Sternberg (126082), Reiber Hansotto, Kennedy, P.G.E., Reiber, Hansotto, Hansotto Reiber   +19 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

T. rex cognition was T. rex‐like—A critical outlook on diverging views of the neurocognitive evolution in dinosaurs

The Anatomical Record, EarlyView.
Abstract A recent debate has emerged between Caspar et al. (2024) and Herculano‐Houzel (2023) on inferring extinct dinosaur cognition by estimating brain neuron counts. While thought‐provoking, the discussion largely overlooks the function of cognition, as well as partly neglects the difficulties involved in estimating neuron numbers, which according ...
Thomas Rejsenhus Jensen, Ivo Jacobs, Kristina Kverková, Lona Lalić, Alexandra Polonyiová, Patrik Stehlík, Stephan A. Reber, Mathias Osvath   +7 more
wiley   +1 more source