Results 81 to 90 of about 109,513 (348)

The genetic landscape of polymicrogyria

Annals of Indian Academy of Neurology, 2022
Polymicrogyria (PMG) is a relatively common complex malformation with cortical development, characterized by an exorbitant number of abnormally tiny gyri separated by shallow sulci. It is a neuronal migration disorder.
Jesmy James, Mary Iype, Mithran Omana Surendran, Ayyappan Anitha, Sanjeev V Thomas   +4 more
doaj   +1 more source

Relaxing Behavioural Inheritance [PDF]

EPTCS 115, 2013, pp. 68-83, 2013
Object-oriented (OO) inheritance allows the definition of families of classes in a hierarchical way. In behavioural inheritance, a strong version, it should be possible to substitute an object of a subclass for an object of its superclass without any observable effect on the system.
arxiv   +1 more source

Inheritance through the cytoplasm [PDF]

, 2022
Most heritable information in eukaryotic cells is encoded in the nuclear genome, with inheritance patterns following classic Mendelian segregation. Genomes residing in the cytoplasm, however, prove to be a peculiar exception to this rule.
Alexander-Lawrie, Bridie, Camus, M Florencia, Hurst, Gregory DD, Sharbrough, Joel   +3 more
core  

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

Hypothesis: Genetic and epigenetic risk factors interact to modulate vulnerability and resilience to FASD

Frontiers in Genetics, 2014
Fetal alcohol spectrum disorder (FASD) presents a collection of symptoms representing physiological and behavioral phenotypes caused by maternal alcohol consumption.
Elif eTunc-Ozcan, Laura eSittig, Kathryn Michelle Harper, Evan North Graf, Eva E Redei   +4 more
doaj   +1 more source

Volatile Compounds Governed by Single Recessive Gene Impart Aroma in Sponge Gourd (Luffa cylindrica L. Roem)

Plants, 2022
As a vegetable crop, sponge gourd is widely consumed worldwide due to its health promoting and nutraceutical value. This study describes genetics of an aromatic genotype VRSG-7-17 and deciphers the genetic control and volatile compound composition of ...
Tribhuvan Chaubey, Vidya Sagar, Ramesh Kumar Singh, Chandan Singh Chanotiya, Sudhakar Pandey, Prabhakar M. Singh, Pradip Karmakar, Jagdish Singh, Bijendra Singh, Dhananjay Pratap Singh, Koshlendra Kumar Pandey, Tusar Kanti Behera   +11 more
doaj   +1 more source

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

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source

VariantAlert: A web‐based tool to notify updates in genetic variant annotations

Human Mutation, Volume 43, Issue 12, Page 1808-1815, December 2022., 2022
Abstract The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web‐based tool to help researchers and clinicians to be ...
Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva   +3 more
wiley   +1 more source

Matter Inheritance Symmetries of Spherically Symmetric Static Spacetimes [PDF]

Int.J.Mod.Phys.A21:2645-2657,2006, 2005
In this paper we discuss matter inheritance collineations by giving a complete classification of spherically symmetric static spacetimes by their matter inheritance symmetries. It is shown that when the energy-momentum tensor is degenerate, most of the cases yield infinite dimensional matter inheriting symmetries.
arxiv   +1 more source