Results 31 to 40 of about 1,098,495 (316)

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

Genomic analysis of storage protein deficiency in common bean (Phaseolus vulgaris)

Frontiers in Plant Science, 2016
A series of genetically related lines of common bean (Phaseolus vulgaris L.) integrate a progressive deficiency in major storage proteins, the 7S globulin phaseolin and lectins.
Sudhakar ePandurangan, Sudhakar ePandurangan, Marwan eDiapari, Fuqiang eYin, Fuqiang eYin, Seth eMunholland, Gregory E. Perry, Patrick eChapman, Shangzhi eHuang, Francesca eSparvoli, Roberto eBollini, William Leonard Crosby, Karl Peter Pauls, Frédéric eMarsolais, Frédéric eMarsolais   +14 more
doaj   +1 more source

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

Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment [PDF]

, 2015
A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions.
Dianne F Newbury, Paracchini, Silvia, Emily Reeves, Charles Hulme, Pettigrew, Kerry A., Hayiou-Thomas, Marianna E., Margaret J Snowling, Simpson, Nuala H., Thompson, Paul A., Paul Thompson, Margaret J. Snowling (782135), Marianna E Hayiou-Thomas, Marianna E. Hayiou-Thomas (782131), Nuala H Simpson, Anahita Sharma, Angela Martinelli (782133), Thompson, Paul; id_orcid, Thompson, Paul, Hulme, Charles, Charles Hulme (782134), Snowling, Margaret J., Ruth Leavett, Silvia Paracchini, Kerry A. Pettigrew (782128), Anahita Sharma (782132), Silvia Paracchini (238619), Emily Reeves (782129), Kerry A Pettigrew, Angela Martinelli, Martinelli, Angela, Newbury, Dianne F., Sharma, Anahita, Ruth Leavett (782130), Dianne F. Newbury (297003), Leavett, Ruth, Paul Thompson (515751), Reeves, Emily, Nuala H. Simpson (703485)   +37 more
core   +1 more source

A U508C synonymous mutation in the SARS-CoV-2 deletion hotspot reduces deletion frequency and accelerates viral clearance

mBio
A deletion hotspot within the non-structural protein 1 (NSP1) gene (locus 500–532) has been observed in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genomes analyzed by next-generation sequencing.
Kaya Miyazaki, Akihiro Doi, Yuriko Tomita, Wataru Kamitani, Shutoku Matsuyama   +4 more
doaj   +1 more source

A Binary Deletion Channel With a Fixed Number of Deletions [PDF]

Combinatorics, Probability and Computing, 2014
Suppose a binary string x = x1 . . . xn is being broadcast repeatedly over a faulty communication channel. Each time, the channel delivers a fixed number m of the digits (m < n) with the lost digits chosen uniformly at random and the order of the surviving digits preserved. How large does m have to be to reconstruct the message?
openaire   +3 more sources

On deletion in Delaunay triangulations [PDF]

Proceedings of the fifteenth annual symposium on Computational geometry, 1999
This paper presents how the space of spheres and shelling may be used to delete a point from a d-dimensional triangulation efficiently. In dimension two, if k is the degree of the deleted vertex, the complexity is O(k log k), but we notice that this number only applies to low cost operations, while time consuming computations are only done a linear ...
openaire   +5 more sources