Results 51 to 60 of about 96,085 (345)

Allelic segregation and independent assortment in T. brucei crosses: proof that the genetic system is Mendelian and involves meiosis [PDF]

, 2005
The genetic system on Trypanosoma brucei has been analysed by generating large numbers of independent progeny clones from two crosses, one between two cloned isolates of Trypanosoma brucei brucei and one between cloned isolates of T. b.
Alison Tweedie, Andy Tait, Anneli Cooper, Annette MacLeod, Benson, C. Michael R. Turner, Culleton, El-Sayed, Gaunt, Gibson, Gibson, Gibson, Gibson, Gibson, Gibson, Gibson, Hall, Hassold, Hide, Hoare, Hope, Jenni, Le Page, Lindsay Sweeney, MacLeod, MacLeod, MacLeod, MacLeod, Martinelli, Martinelli, Paindovoine, Sarah McLellan, Schweizer, Shirley, Sonya Taylor, Sternberg, Su, Su, Su, Tait, Tait, Tait, Tibayrenc, Turner, Van Den Abbeele   +44 more
core   +1 more source

AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders

Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022
Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, Konrad Platzer, Bernt Popp, Rami Abou Jamra   +5 more
wiley   +1 more source

Soma-to-germline transmission of RNA in mice xenografted with human tumour cells: possible transport by exosomes. [PDF]

PLoS ONE, 2014
Mendelian laws provide the universal founding paradigm for the mechanism of genetic inheritance through which characters are segregated and assorted. In recent years, however, parallel with the rapid growth of epigenetic studies, cases of inheritance ...
Cristina Cossetti, Luana Lugini, Letizia Astrologo, Isabella Saggio, Stefano Fais, Corrado Spadafora   +5 more
doaj   +1 more source

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022
Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand   +31 more
wiley   +1 more source

Genetics of Childhood Epilepsy

Pediatric Neurology Briefs, 2000
Genetic epilepsies are classified according to the mechanism of inheritance in three major groups: 1) Mendelian idiopathic epilepsies; 2) Non-Mendelian or “complex” epilepsies; and 3) Chromosomal disorders.
J Gordon Millichap
doaj   +1 more source

Segregation Analysis Suggests That a Genetic Reason May Contribute to "the Dress" Colour Perception. [PDF]

PLoS ONE, 2016
In early 2015, the debate of blue-black and white-gold color perception from "the dress" became an overnight internet phenomenon. According to the vote from the online social network Twitter, more people observed white-gold colors than those who observed
Feifei Xiao, Guoshuai Cai, Heping Zhang
doaj   +1 more source

Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis

Human Mutation, Volume 43, Issue 12, Page 2091-2101, December 2022., 2022
Abstract The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly appreciated. Monogenic disorders associated with IPF affect two pathways: telomere maintenance, accounting for approximately 10% of all patients with IPF, and surfactant biology, responsible for 1%–3% of cases and often co‐occurring with lung ...
Rachel M. Sutton, Humberto Trejo Bittar, Daniel I. Sullivan, Agustin Gil Silva, Harinath Bahudhanapati, Anishka H. Parikh, Yingze Zhang, Kevin Gibson, John F. McDyer, Daniel J. Kass, Jonathan K. Alder   +10 more
wiley   +1 more source

Ernst Rüdin's Unpublished 1922-1925 Study "Inheritance of Manic-Depressive Insanity": Genetic Research Findings Subordinated to Eugenic Ideology. [PDF]

PLoS Genetics, 2015
In the early 20th century, there were few therapeutic options for mental illness and asylum numbers were rising. This pessimistic outlook favoured the rise of the eugenics movement.
Gundula Kösters, Holger Steinberg, Kenneth Clifford Kirkby, Hubertus Himmerich   +3 more
doaj   +1 more source

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

Human Mutation, Volume 43, Issue 12, Page 2170-2186, December 2022., 2022
Abstract The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific.
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau   +14 more
wiley   +1 more source

From Genes to Health‒ Challenges and Opportunities

Frontiers in Pediatrics, 2014
In genome science, the advancement in high throughput sequencing technologies and bioinformatics analysis is facilitating the better understanding of Mendelian and complex trait inheritance.
MUHAMMAD RAMZAN eMANWAR HUSSAIN, Asifullah ekhan, Hussein Sheikh eAli Mohamoud   +2 more
doaj   +1 more source