Results 91 to 100 of about 16,338 (222)

An 8q24.11q24.13 Microdeletion Encompassing EXT1 in a Boy with Autistic Spectrum Disorder, Intellectual Disability, and Multiple Hereditary Exostoses [PDF]

, 2021
Min Jeong Kim, Yunjin Lee, Sang Ook Nam, Young Mi Kim   +3 more
openalex   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

On stable modules that are not Gorenstein projective

, 2017
In \cite{AB}, Auslander and Bridger introduced Gorenstein projective modules and only about 40 years after their introduction a finite dimensional algebra $A$ was found in \cite{JS} where the subcategory of Gorenstein projective modules did not coincide ...
Marczinzik, Rene
core  

The elusive functions of EXT1 and EXT2

, 2021
M.Phil.
openaire   +1 more source

Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses

The American Journal of Human Genetics, 1997
Hereditary multiple exostoses (HME), the most frequent of all skeletal dysplasias, is an autosomal dominant disorder characterized by the presence of multiple exostoses localized mainly at the end of long bones. HME is genetically heterogeneous, with at least three loci, on 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3).
Philippe, Christophe, Porter, Daniel E., Emerton, Mark E., Wells, Dan E., Hamish, A., Simpson, R.W., Monaco, Anthony P.   +6 more
openaire   +2 more sources

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Prague Medical Report, 2017
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová   +9 more
doaj   +1 more source

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

Frontiers in Genetics
Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes,
Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Konstantin Zherdev, Aleksandr Petel’guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov   +18 more
doaj   +1 more source

Genomic and clinical correlates of 5 deep learning‐based neuroimaging signatures of neurodegeneration, evaluated in ADSP [PDF]

Alzheimers Dement
Abstract Background Deep learning methods help to disentangle heterogeneity of brain aging and find distinct neuroimaging patterns of neurodegeneration. However, the relationship between aging‐related brain atrophy patterns and genetics is complex and requires further exploration.
Cui Y, Srinivasan D, Yang Z, Wen J, Erus G, Hohman T, Saykin A, Thompson P, Shen L, Davatzikos C.   +9 more
europepmc   +2 more sources

Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier [PDF]

, 2022
Ramzi Khalil, Margien G. S. Boels, PALGA Group, A. Bezuijen, James E. Boers, Peter C. de Bruin, M. A. A. M. van Dijk, Paul Drillenburg, Anne-Marie Hamel, H. M. Hazelbag, G. N. Jonges, Robby E. Kibbelaar, Kim Hung Lam, H. van der Linden, J. van Marsdijk, C. J. L. M. Meijer, Irıs D. Nagtegaal, Joost J. Oudejans, Joris J. T. H. Roelofs, Lieke Rozendaal, S. H. Sastrowijoto, Mark M. Smits, J. Stavast, Bernard M. van den Berg, Jan A. Bruijn, Ton J. Rabelink, Pancras C.W. Hogendoorn, Hans J. Baelde   +27 more
openalex   +1 more source

Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management

Hereditary Cancer in Clinical Practice, 2004
Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Hameetman Liesbeth, Bovée Judith VMG, Taminiau Antonie HM, Kroon Herman M, Hogendoorn Pancras CW   +4 more
doaj   +1 more source