Results 31 to 40 of about 3,786,126 (364)

Disorders caused by chromosome abnormalities

The Application of Clinical Genetics, 2010
Many human genetic disorders result from unbalanced chromosome abnormalities, in which there is a net gain or loss of genetic material. Such imbalances often disrupt large numbers of dosage-sensitive, developmentally important genes and result in specific and complex phenotypes.
Aaron Theisen, Lisa G. Shaffer
openaire   +5 more sources

Emerging patterns of genetic overlap across autoimmune disorders. [PDF]

, 2012
Most of the recently identified autoimmunity loci are shared among multiple autoimmune diseases. The pattern of genetic association with autoimmune phenotypes varies, suggesting that certain subgroups of autoimmune diseases are likely to share ...
Criswell, Lindsey A, Richard-Miceli, Corinne   +1 more
core   +1 more source

A CASE OF DELETION OF CHROMOSOME 14q23.3 [PDF]

Euromediterranean Biomedical Journal, 2012
An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impairments in social interaction and communication.
Nadia Imbrigiotta
doaj   +1 more source

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. [PDF]

, 2011
Because of the high costs associated with ascertainment of families, most linkage studies of Bipolar I disorder (BPI) have used relatively small samples. Moreover, the genetic information content reported in most studies has been less than 0.6.
A Kong, A MacLean, A Serretti, AE Baum, AJ Jasinska, AL Price, BK Suarez, BL Browning, C-Y Liu, D Blackwood, D Grozeva, D Grozeva, D Koller, D Lambert, D Morris, D Sadovnick, D Zhang, DH Blackwood, DL Pauls, E Green, E Green, E S Gershon, EM Wijsman, EN Smith, ER Hauser, ET Cirulli, F J McMahon, F Mathieu, G J Lyon, G Kirov, GR Abecasis, H Coon, H Edenberg, HJ Edenberg, HM Ollila, I Jones, J A Badner, J B Potash, J Fan, J I Nurnberger, J Kelsoe, J Ross, JI Nurnberger, JM Ekholm, JPA Ioannidis, JR Kelsoe, JR O’Connell, KA Frazer, KR Merikangas, KY Liang, L Jones, LJ Adams, LJ Scott, M Ayub, M Gill, M Hamshere, MA Spence, MAR Ferreira, MB McQueen, MS McPeek, N Craddock, P Keck, P P Zandi, P Sklar, PP Zandi, R Remick, R Robinson, R Segurado, S Macgregor, S Purcell, SA Bacanu, T Foroud, T Venken, TC Matise, V L Willour, W Byerley, W McMahon, WH Berrettini, WTCC Consortium   +78 more
core   +3 more sources

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency [PDF]

, 2004
Although most components of the mitochondrial translation apparatus are encoded by nuclear genes, all known molecular defects associated with impaired mitochondrial translation are due to mutations in mitochondrial DNA.
Antonicka, H, Coenen, MJH, Heister, A, Newbold, RF, Rossi, R, Sasarman, F, Shoubridge, EA, Smeitink, JAM, Trijbels, FJMF, Ugalde, C, van den Heuvel, LP   +10 more
core   +9 more sources

Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. [PDF]

, 2014
BackgroundAutism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood.
Cantor, Rita M, Geschwind, Daniel H, Lowe, Jennifer K, Luo, Rui, Werling, Donna M, Werling, Donna M   +5 more
core   +2 more sources

Chromosomal disorders and male infertility [PDF]

Asian Journal of Andrology, 2011
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified.
Harton, Gary L., Tempest, Helen G., Ph.D.   +1 more
openaire   +4 more sources

Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis

Molecular Cytogenetics, 2019
Background This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant ...
Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang, Luming Wang   +5 more
doaj   +1 more source

Alopecia areata: a multifactorial autoimmune condition [PDF]

, 2019
Alopecia areata is an autoimmune disease that results in non-scarring hair loss, and it is clinically characterised by small patches of baldness on the scalp and/or around the body. It can later progress to total loss of scalp hair (Alopecia totalis) and/
Butcher, John P., Henriquez, Fiona L., Reid, Stuart, Simakou, Teontor   +3 more
core   +1 more source

Genome-wide association study of receptive language ability of 12 year olds [PDF]

, 2013
Purpose: We have previously shown that individual differences in measures of receptive language ability at age 12 are highly heritable. The current study attempted to identify some of the genes responsible for the heritability of receptive language ...
Claire M. A. Haworth, Emma L. Meaburn, Hammill D. D., Ken B. Hanscombe, Kovas Y., Maciej Trzaskowski, Marianna E. Hayiou-Thomas, Nicole Harlaar, Nippold M. A., Oliver S. P. Davis, Philip S. Dale, Plomin R., Plomin R., Robert Plomin, Sophia Docherty, Thomas S. Price, Wechsler D., Wiig E. H.   +17 more
core   +3 more sources