Results 21 to 30 of about 125,272 (358)

Phylogenomic analysis reveals extensive phylogenetic mosaicism in the Human GPCR Superfamily [PDF]

, 2007
A novel high throughput phylogenomic analysis (HTP) was applied to the rhodopsin G-protein coupled receptor (GPCR) family. Instances of phylogenetic mosaicism between receptors were found to be frequent, often as instances of correlated mosaicism and ...
Allaby, Robin G., Woodwark, Mathew
core   +2 more sources

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males

BMC Medicine, 2023
Background Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously.
Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Bao   +5 more
doaj   +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
core   +1 more source

Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy

Molecular Genetics & Genomic Medicine, 2023
Background Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk significantly ...
Yanshu Xie, Jingsi Luo, Jingzi Zhong, Xu Liu, Jing Tang, Dan Lan   +5 more
doaj   +1 more source

Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome

Frontiers in Genetics, 2022
Objective: Paternal sperm mosaicism has few consequences for fathers for mutations being restricted to sperm. However, it could potentially underlie severe sporadic disease in their offspring.
Jiexue Pan, Jiexue Pan, Jiexue Pan, Jiexue Pan, Jie Li, Jie Li, Songchang Chen, Songchang Chen, Chenming Xu, Chenming Xu, Hefeng Huang, Hefeng Huang, Hefeng Huang, Li Jin, Li Jin   +14 more
doaj   +1 more source

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

Cluster J Mycobacteriophages: Intron Splicing in Capsid and Tail Genes [PDF]

, 2013
Bacteriophages isolated on Mycobacterium smegmatis mc2155 represent many distinct genomes sharing little or no DNA sequence similarity. The genomes are architecturally mosaic and are replete with genes of unknown function.
Best, AA, Broussard, GW, Connerly, PL, Conway, JF, Dedrick, RM, Hatfull, GF, Hendrix, RW, Jacobs-Sera, D, Kremer, TA, Offner, S, Ogiefo, AH, Pizzorno, MC, Pope, WH, Rockenbach, K, Russell, DA, Stowe, EL, Stukey, J, Thibault, SA   +17 more
core   +8 more sources

The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome

Journal of Human Reproductive Sciences, 2023
Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. This technique does not rule out tissue mosaicism or low-grade mosaicism in the blood. Because of
Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady   +2 more
doaj   +1 more source

Considering Intra-individual Genetic Heterogeneity to Understand Biodiversity [PDF]

, 2019
In this chapter, I am concerned with the concept of Intra-individual Genetic Hetereogeneity (IGH) and its potential influence on biodiversity estimates. Definitions of biological individuality are often indirectly dependent on genetic sampling -and vice ...
A Cárdenas-Flores, A Roger, A Roger, AV Gonzalez, B Rinkevich, B Rinkevich, B Santelices, B Santelices, B Santelices, B Santelices, B Santelices, B Santelices, B Santelices, B Santelices, B Santelices, B Wang, C Angelard, C Wagg, DC Queller, DC Queller, DE Gill, DJ Herman, DS Wilson, E Boon, E Boon, E Boon, E Boon, E Clarke, G Kuhn, H Youssoufian, HJ Folse, HJ Folse, I Matos, I Zarraonaindia, IR Sanders, J Marleau, J Maynard Smith, J Vijg, JE Strassmann, JE Strassmann, JJ Morris, JO McInerney, JT Bonner, JT Staley, K Monro, L Collado-Vides, LW Buss, M Giovannetti, M Hijri, M O’Malley, M Pineda-Krch, M Pineda-Krch, M Schweinsberg, ME Samuels, MG Heijden van der, N Corradi, NB Spinner, P Bonfante, R Riley, RE Michod, RP Erickson, S Okasha, S Sarkar, S. Andrew Inkpen, T Fagerström, T Pradeu, T Wernberg, T Wyss, WF Doolittle, WF Doolittle   +69 more
core   +2 more sources

Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study [PDF]

International Journal of Fertility and Sterility
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalenceand inherent unpredictability, leading to variations in embryo mosaic rates across different centers.
Achmad Kemal Harzif, Muhammad Ikhsan, Pritta Ameilia Iffanolida, Kresna Mutia, Budi Wiweko, R Muharam, Kanadi Sumapraja, Gita Pratama, Mila Maidarti, Vita Silvana, Amalia Shadrina, Irene Sinta Febriana, Nafi'atul Ummah, Aisyah Retno Puspawardani, Andon Hestiantoro   +14 more
doaj   +1 more source