Results 161 to 170 of about 114,605 (302)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

A New Method for Screening Thalassemia Patients Using Mid-Infrared Spectroscopy. [PDF]

Diagnostics (Basel)
Thumanu K, Khamgasem T, Sukpong S, Phatthanakun R, Puangplruk R, Tanthanuch W, Kuaprasert B, Tastub S, Rujanakraikarn R, Tun S, Saovana T, Munkongdee T, Wongthong S.   +12 more
europepmc   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 246-256, June 2026.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Predicting longitudinal basal forebrain volume in the Alzheimer's disease spectrum: the role of sex and ApoE epsilon 4 genotype. [PDF]

Front Neurosci
Grazia A, Levin F, Jessen F, Wagner M, Peters O, Priller J, Schneider A, Wiltfang J, Düzel E, Buerger K, Perneczky R, Laske C, Spottke A, Ramirez A, Teipel SJ.   +14 more
europepmc   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Host genetic factors modulating dengue virus: a systematic review of TLR polymorphisms. [PDF]

BMC Infect Dis
Candrasari DS, Purwosatrio PG, Purnomosari D, Laksanawati IS, Nirwati H.   +4 more
europepmc   +1 more source

Alcohol use and APOE ε4 interaction with cognitive domains among American adults from diverse racial/ethnic groups: A HABS‐HD study

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 2, Issue 2, June 2026.
Abstract Introduction We investigated the interaction between alcohol use behavior and apolipoprotein E (APOE) ε4 on cognitive domains among non‐Hispanic Black (NHB), Hispanic, and non‐Hispanic White (NHW) individuals. Methods Using the Health and Aging Brain Study–Health Disparities data, we analyzed 2143 adults aged 50+ using linear regression ...
Edna P. Mendoza‐Villena, Malinee Neelamegam, Nicole Phillips, Leigh Johnson, Lubnaa Abdullah, James Hall, Sid O'Bryant, Eun‐Young Mun, Shea J. Andrews, Robert Barber, Gita A. Pathak, Mohammad Housini, Kai Zhang, Zhengyang Zhou   +13 more
wiley   +1 more source

A Logratio Approach to the Analysis of Autosomal Genotype Frequencies Across Multiple Samples. [PDF]

Mol Ecol Resour
Graffelman J.
europepmc   +1 more source

Deletion of a Pax1 Sex‐Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice

JOR SPINE, Volume 9, Issue 2, June 2026.
Overview of the effects of Pax1‐SAR deletion on gene expression, IVD degeneration, and resultant scoliotic‐like curvature between sexes. Proposed mechanism of sex‐dependent changes in gene expression in females (right) and males (left), resulting in sex‐dependent disc degeneration and scoliotic phenotypes.
Edward C. Moody, Emma M. Wade, Shuji Mizumoto, Jeremy McCallum‐Loudeac, Megan J. Wilson   +4 more
wiley   +1 more source