Results 1 to 10 of about 314,830 (333)

A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder [PDF]

, 2005
Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare ...
American Psychiatric Association, Baron, Bennett, Bull, Bull, Curtis, Dick, Ewald, Ewald, Houwen, Kruglyak, Kruglyak, Lander, Miano, Modin, Primdahl, Segurado, van Duijn, Wang, Wing, World Health Organization, Wright   +21 more
core   +1 more source

The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization [PDF]

, 2017
The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 and encodes the CFDP1 protein, which belongs to the evolutionarily conserved Bucentaur (BCNT) family.
Atterrato, Maria Teresa, Dimitri, Patrizio, Losada, Ana, Messina, Giovanni, Piacentini, Lucia, Prozzillo, Yuri   +5 more
core   +3 more sources

Genetics of autistic disorders : review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Duketis, Eftichia, Freitag, Christine M., Klauck, Sabine M., Staal, Wouter, Waltes, Regina   +4 more
core   +4 more sources

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence [PDF]

, 2003
BACKGROUND: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human genome.
Cheung, Joseph, Estivill, Xavier, Khaja, Razi, Lau, Ken, MacDonald, Jeffrey R, Scherer, Stephen W, Tsui, Lap-Chee   +6 more
core   +2 more sources

A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]

, 2004
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B, Mehan, Michael R, Ophoff, Roel A   +2 more
core   +2 more sources

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

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

22q11.2 deletion syndrome [PDF]

, 2015
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S., Emanuel, Beverly S., Marino, Bruno, McDonald-McGinn, Donna M., Morrow, Bernice E., Philip, Nicole, Scambler, Peter J., Sullivan, Kathleen E., Swillen, Ann, Vermeesch, Joris R., Vorstman, Jacob A. S., Zackai, Elaine H.   +11 more
core   +1 more source

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
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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