Results 231 to 240 of about 462,672 (344)

A case report of X-linked ichthyosis associated with epilepsy due to an <i>Xp22.31</i> deletion fragment. [PDF]

Front Med (Lausanne)
Qi Y, Lin S, Zhou Y, Jiang K.
europepmc   +1 more source

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Minale EMP, Martone S, Criscuolo C, Marra R, Lasorsa VA, Ruggiero R, Suero T, Capasso M, Andolfo I, Iolascon A, Russo R, Pinelli M.   +11 more
europepmc   +1 more source

Chromosome 13 deletion and hypodiploidy on conventional cytogenetics are robust prognostic factors in Korean multiple myeloma patients: web-based multicenter registry study

, 2014
the Korean Multiple Myeloma Working Party (KMMWP), Sukjoong Oh, Dong‐Hoe Koo, Min‐Jung Kwon, Kihyun Kım, Cheolwon Suh, Chang‐Ki Min, Sung‐Soo Yoon, Ho‐Jin Shin, Deog‐Yeon Jo, Jae-Yong Kwak, Jin Seok Kim, Sang Kyun Sohn, Young‐Don Joo, Hyeon‐Seok Eom, Sung‐Hyun Kim, Yang Soo Kim, Chul-Soo Kim, Yeung‐Chul Mun, Hawk Kim, Dong Soon Lee, Jae Hoon Lee   +21 more
openalex   +2 more sources

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Epithelioid Hemangioendothelioma With a Novel Chromosomal Deletion and an Aggressive Clinical Course: A Case Report and Literature Review. [PDF]

Case Rep Oncol Med
Thor DC, Hussain N, de Leon AB.
europepmc   +1 more source

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

, 2008
C. Coldren, Zona Lai, Paul Shragg, Elena Rossi, Steven C. Glidewell, Orsetta Zuffardi, Teresa Mattina, D. Dunbar Ivy, Leopold Curfs, Sarah N. Mattson, Edward P. Riley, Mathias Treier, Paul Grossfeld   +12 more
openalex   +2 more sources

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

MOESM3 of A 0.5-Mbp deletion on bovine chromosome 23 is a strong candidate for stillbirth in Nordic Red cattle

, 2016
Goutam Sahana, Terhi Iso-Touru, Xiaoping Wu, Ulrik Nielsen, Dirk-Jan Koning, Mogens Lund, Johanna Vilkki, Bernt Guldbrandtsen   +7 more
openalex   +2 more sources