Results 221 to 230 of about 462,672 (344)

Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review. [PDF]

Medicine (Baltimore)
Zhang Y, Yue F, Qi T, Liu R.
europepmc   +1 more source

Chromosome Deletion Detected [PDF]

, 2020
openaire   +1 more source

Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult. [PDF]

, 1972
MJW Faed, R. K. Whyte, C R Paterson, M McCathie, Janet Robertson   +4 more
openalex   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Real-World Prevalence and Structural Validation of the Canonical 9p21 MTAP-CDKN2A/B Deletion in Non-NSCLC Solid Tumors. [PDF]

Cancers (Basel)
Han M, Lee E, Shin JE, Kwon M, Hong JY, Kim ST, Ahn S, Kim KM, Lee J, Lim SH.   +9 more
europepmc   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Chromosome 17q12 deletion, including <i>HNF1B</i> presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report. [PDF]

AJOG Glob Rep
Boe N, Hedriana H, Singh K.
europepmc   +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang   +3 more
wiley   +1 more source

Directed evolution for cell separation in natural isolates of budding yeast reveals selection to deactivate AMN1 and the Rim101 pathway in haploids and selection in favor of Hawthorne's deletion in diploids. [PDF]

G3 (Bethesda)
Galeota-Sprung B, Pritchard E, Huang C, Fernandez A, Sniegowski P.   +4 more
europepmc   +1 more source

Histological Characterization and Comparative Transcriptomic Analysis of Gonads During Early Sex Differentiation in the Northern Snakehead (Channa argus)

Animal Research and One Health, EarlyView.
This study delineates the early sex differentiation timeline in the northern snakehead (Channa argus). These findings provide a foundation for future sex‐control breeding in this economically important species. ABSTRACT The northern snakehead (Channa argus) is an economically important aquaculture species in China.
Chaonan Sun, Donglei Sun, Haishen Wen, Xin Qi, Chao Li, Xiaoyan Zhang, Yun Li   +6 more
wiley   +1 more source