Results 21 to 30 of about 1,095,316 (316)

Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia

Frontiers in Genetics, 2023
Defects in FARS2 are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel
Elena Panzeri, Andrea Citterio, Andrea Martinuzzi, Vera Ancona, Eleonora Martini, Maria Teresa Bassi   +5 more
doaj   +1 more source

To delete or not to delete: The contexts of Icelandic Final Vowel Deletion [PDF]

Lingua, 2008
Icelandic Final Vowel Deletion (FVD) is a phonological rule that deletes word-final unstressed vowels before initial vowels of the next word. To date, it has not been studied systematically. The research reported here is based on data from three different sources.
openaire   +2 more sources

Evolutionary and functional features of copy number variation in the cattle genome

Frontiers in Genetics, 2016
Genomic structural variations are an important source of genetic diversity. Copy number variations (CNVs), gains and losses of large regions of genomic sequence between individuals of a species, have been associated with a wide variety of phenotypic ...
Brittney N Keel, Amanda K Lindholm-Perry, Warren M Snelling   +2 more
doaj   +1 more source

Parameterized Orientable Deletion [PDF]

Algorithmica, 2020
A graph is $d$-orientable if its edges can be oriented so that the maximum in-degree of the resulting digraph is at most $d$. $d$-orientability is a well-studied concept with close connections to fundamental graph-theoretic notions and applications as a load balancing problem.
Tesshu Hanaka, Ioannis Katsikarelis, Michael Lampis, Yota Otachi, Florian Sikora   +4 more
openaire   +4 more sources

Identification of genomic indels and structural variations using split reads

BMC Genomics, 2011
Background Recent studies have demonstrated the genetic significance of insertions, deletions, and other more complex structural variants (SVs) in the human population.
Urban Alexander E, Abyzov Alex, Lam Hugo, Du Jiang, Zhang Zhengdong D, Snyder Michael, Gerstein Mark   +6 more
doaj   +1 more source

Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes

Frontiers in Genetics, 2022
Preimplantation genetic testing plays a critical role in enabling a balanced translocation carrier to obtain the normal embryo. Identifying the precise breakpoints for the carriers with phenotypic abnormity, allows us to reveal disrupted genes.
Yanan Wang, Zhenhua Zhao, Xinyu Fu, Shufang Li, Qiuyan Zhang, Xiangdong Kong   +5 more
doaj   +1 more source

Neuropathology of 16p13.11 deletion in epilepsy [PDF]

, 2012
16p13.11 genomic copy number variants are implicated in several neuropsychiatric disorders, such as schizophrenia, autism, mental retardation, ADHD and epilepsy.
Martinian, L., Kasperavičiute, D., Liu, J.Y.W., Sisodiya, S.M., Thom, M.   +4 more
core   +1 more source

Does Deleting Dendritic Cells Delete Autoimmunity? [PDF]

Immunity, 2010
A role for dendritic cells (DCs) in autoimmunity remains to be fully delineated. In this issue of Immunity, Teichmann et al. (2010) reveal critical functions for DCs in augmenting, but surprisingly not in initiating, spontaneous autoimmune disease.
Platt, Andrew M., Randolph, Gwendalyn J.
openaire   +2 more sources

Social cognition in Williams Syndrome: genotype/phenotype insights from partial deletion patients [PDF]

, 2012
Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in
Kay eMetcalfe, Metcalfe, K., Annette Karmiloff-Smith, Senju, Atsushi, Peter Turnpenny, Wu, Racehl, Longhi, Elena, Happé, Francesca, Kay Metcalfe, Sansbury, F., Hannah Broadbent, Longhi, E, Metcalfe, Kay, Farran, EK, D'Souza, D, Happé, F., Turnpenny, Peter, Annette eKarmiloff-Smith, Wu, Rachel, Elena eLonghi, Longhi, E., Sansbury, Francis, Francesca eHappé, D'Souza, Dean, Farran, Emily, Elena Longhi, Tassabehji, M., Emily K. Farran, Turnpenny, P., Metcalfe, K, Tassabehji, May, Karmiloff-Smith, A, Dean eD'Souza, Broadbent, H., Broadbent, Hannah, Tassabehji, M, Atsushi Senju, Broadbent, H, Francis eSansbury, Rachel Wu, Wu, R, Peter eTurnpenny, May eTassabehji, Happé, F, Farran, E.K., Atsushi eSenju, Francis Sansbury, Turnpenny, P, Dean D’Souza, Francesca Happé, Senju, A, Hannah eBroadbent, Rachel eWu, Sansbury, F, May Tassabehji, Karmiloff-Smith, Annette, Farran, Emily K   +56 more
core   +1 more source

Reconsidering the variable context: A phonological argument for (t) and (d) deletion [PDF]

, 2020
There have been a number of studies investigating the phenomenon of t-d deletion in English, the process through which /t/ or /d/ can be deleted in word final Ct or Cd coda clusters.
Kasstan, J., Johnson, W., Amos, J.
core   +1 more source