Results 121 to 130 of about 57,012 (243)

Inherited Susceptibility to Cancer: Past, Present and Future

Annals of Human Genetics, Volume 89, Issue 5, Page 354-365, September 2025.
ABSTRACT Germline pathogenic variants (GPVs, ‘mutations’) causing inherited susceptibility to certain cancers (cancer susceptibility genes, CSGs) broadly belong to one of two main classes—loss of function variants in tumour suppressor genes (TSGs) or gain of function variants in proto‐oncogenes (an over‐simplification).
Shirley V. Hodgson, William D. Foulkes, Eamonn R Maher, Clare Turnbull   +3 more
wiley   +1 more source

Class - III malocclusion: Genetics or environment? A twins study

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2005
Etiology of class-III malocclusion is generally believed to be genetic. A wide range of environmental factors have been suggested as contributing factors for the development of class-III malocclusion.
Jena A, Duggal R, Mathur V, Parkash H
doaj  

From the Cradle to the Labor Market? The Effect of Birth Weight on Adult Outcomes [PDF]

Lower birth weight babies have worse outcomes, both short-run in terms of one-year mortality rates and longer run in terms of educational attainment and earnings.
Kjell Salvanes, Paul J. Devereux, Sandra E. Black   +2 more
core  

Second-trimester markers of fetal size in schizophrenia: a study of monozygotic twins [PDF]

, 1992
OBJECTIVE: Since the second prenatal trimester is the critical period of massive neural cell migration to the cortex, and fingertip dermal cells migrate to form ridges during this same period, the authors sought to determine whether there are differences
Bigelow, LB, Bracha, HS, Cunniff, C, Gottesman, II, Torrey, EF   +4 more
core  

Phenotypic Divergence of JAG1‐ and NOTCH2‐Associated Alagille Syndrome & Disease‐Specific NOTCH2 Variant Classification Guidelines

Liver International, Volume 45, Issue 9, September 2025.
ABSTRACT Background & Aims Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease‐causing variants are primarily identified in Jagged1 (JAG1), with fewer reported in NOTCH2. JAG1 variants cause disease through a mechanism of haploinsufficiency, but the mechanism for NOTCH2 variants is not completely ...
Shannon M. Vandriel, Li‐Ting Li, Huiyu She, Jian‐She Wang, Kathleen M. Loomes, David A. Piccoli, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz‐Miedzińska, Lorenzo D'Antiga, Emanuele Nicastro, Florence Lacaille, Dominique Debray, Étienne M. Sokal, Tanguy Demaret, Rima L. Fawaz, Silvia Nastasio, Kyung Mo Kim, Seak Hee Oh, Björn Fischler, Henrik Arnell, Catherine Larson‐Nath, Winita Hardikar, Sahana Shankar, Shikha S. Sundaram, Alexander Chaidez, Pinar Bulut, Pier Luigi Calvo, Mureo Kasahara, Niviann Blondet, Eberhard Lurz, Anna‐Maria Kavallar, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Noelle H. Ebel, Jeffrey A. Feinstein, Susan M. Siew, Michael O. Stormon, Saul J. Karpen, Rene Romero, M. Kyle Jensen, Catalina Jaramillo, James E. Squires, Sarah M. Bedoyan, Deirdre A. Kelly, Jane Hartley, Henkjan J. Verkade, Way Seah Lee, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Henry C. Lin, Nathalie Rock, Yael Mozer‐Glassberg, Amin J. Roberts, Helen M. Evans, Wikrom Karnsakul, Gabriella Nebbia, Victorien M. Wolters, Pamela L. Valentino, Jesus Quintero Bernabeu, Amal A. Aqul, Cigdem Arikan, María Legarda Tamara, Cristina Molera Busoms, Thomas Damgaard Sandahl, Giuseppe Indolfi, Andréanne N. Zizzo, Aglaia Zellos, Ruben E. Quiros‐Tejeira, Ermelinda Santos‐Silva, Kathleen B. Schwarz, Jernej Brecelj, Maria Camila Sanchez, Maria Lorena Cavalieri, Christos Tzivinikos, Sabina Wiecek, John Eshun, Nanda Kerkar, Quais Mujawar, Zerrin Önal, Cristina Gonçalves, Jennifer Garcia, Seema Alam, Carolina Jimenez‐Rivera, Luis Bujanda, Richard J. Thompson, Bettina E. Hansen, Nancy B. Spinner, Melissa A. Gilbert, Binita M. Kamath, The Global ALagille Alliance (GALA) Study Group   +91 more
wiley   +1 more source

Phenotyping Healthcare Use 2–3 Decades Before the First Multiple Sclerosis Demyelinating Event

Annals of Clinical and Translational Neurology, Volume 12, Issue 8, Page 1585-1594, August 2025.
ABSTRACT Objective Phenotype hospital, physician, and emergency department (ED) visits by diagnoses and specialty up to 29 years pre‐multiple sclerosis (MS) onset versus a matched population without MS. Methods We identified people with MS (PwMS) using population‐based administrative data from Ontario, Canada (1991–2020).
Helen Tremlett, Karl Everett, Colleen J. Maxwell, Feng Zhu, Ayesha Asaf, Ping Li, Kyla A. McKay, Yinshan Zhao, Ruth Ann Marrie   +8 more
wiley   +1 more source

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe, Jessica Connors, Angela Arra, Katherine Dunn, Kim Blake, Johan van Limbergen   +5 more
wiley   +1 more source

Associations Between Sum Scores or Combinations of MRI Findings in the Lumbar Spine and Low Back Pain‐Related Outcomes: A Systematic Review

European Journal of Pain, Volume 29, Issue 7, August 2025.
ABSTRACT Background and Objective Research on lumbar MRI findings has mainly focused on single MRI findings and their association with low back pain (LBP). Some studies suggest that summing or combining MRI findings may show stronger associations with LBP than single findings.
Line Dragsbæk, Tue Secher Jensen, Per Kjær, Mark Hancock, Stine Clausen, Rikke Krüger Jensen   +5 more
wiley   +1 more source

The Genetics of Cerebellar Structure and Associations With Cognitive Performance: A Twin Magnetic Resonance Imaging Study

Human Brain Mapping, Volume 46, Issue 11, 01 August 2025.
This study is a comprehensive examination of the genetics of cerebellar structure and its cognitive correlates using genetically‐informative Human Connectome Project data and structural equation modeling. Individual differences in most cerebellar subregions are dominated by genetic variation.
Gretchen Lutz, Simon Smerconish, David Roalf, Michael C. Neale, J. Eric Schmitt   +4 more
wiley   +1 more source

Advancements in Immunomodulatory Therapies for IBD and Their Interplay With the Gut–Brain Axis: An Updated Review of Current Literature and Beyond

Health Science Reports, Volume 8, Issue 8, August 2025.
ABSTRACT Background and Aims The incidence of inflammatory bowel disease (IBD), characterized by chronic gastrointestinal inflammation, has significantly increased over the last two decades. Concurrently, advancements in treatment strategies have accelerated, aiming not only to induce but also to maintain remission.
Mayank Jha, Aiman Waheed, Jubran Al Hooti, Shreya Nair, Ali Najam, Madho Mal, Nayanika Tummala, Abdul Sattar Shariq, Abu Hurairah, Michael Daniel   +9 more
wiley   +1 more source