Zobrazeno 1 - 10
of 652
pro vyhledávání: '"Full mutation"'
Autor:
Meg Shieh, Keren Amkraut, Gail A. Spiridigliozzi, Tatyana Adayev, Kaylea Nicholson, Allyn McConkie‐Rosell, Marie McDonald, Malinda Pennington, Siby Sebastian, Ave M. Lachiewicz
Publikováno v:
Clinical Case Reports, Vol 11, Iss 6, Pp n/a-n/a (2023)
Key Clinical Message A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood. Although initial genetic findings helped make a correct fragile
Externí odkaz:
https://doaj.org/article/f999547a0f1f4565bd1cf48f5ab97266
Akademický článek
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Autor:
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Abstract Background We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importanc
Externí odkaz:
https://doaj.org/article/3cdab0b3122447c0befa5760c7536697
Akademický článek
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Autor:
Lisik Malgorzata Zofia
Publikováno v:
Current Issues in Pharmacy and Medical Sciences, Vol 30, Iss 1, Pp 27-30 (2017)
Fragile X syndrome (FXS) is a single-gene disorder with a broad spectrum of involvement, including cognitive and behavioural impairments of varying degrees with specific physical features and with strong association with autism. The study was conduct
Externí odkaz:
https://doaj.org/article/24bc97c553a3437494eb53731db368d3
Akademický článek
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Autor:
Esther Manor, Raphael Gonen, Benjamin Sarussi, Danielle Keidar‐Friedman, Jay Kumar, Hiu‐Tung Tang, Flora Tassone
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AG
Externí odkaz:
https://doaj.org/article/f037af9044994a2ba3b2f8732faadf54
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 17, Iss 4, Pp 303-309 (2016)
Fragile X syndrome (FXS) is a multigenerational disorder having massive adverse effect not only on the individuals but also on their families. It is the most common type of intellectual disability after Down’s syndrome. Over two decades have passed
Externí odkaz:
https://doaj.org/article/0f5bc6dd8dfa4904a360a4de17749b9e
Autor:
Heba Alla Hosny Omar, Tarek M. Kamal, Heba Salah Abd-Alkhalek, Ghada H. El Nady, M.S.Z. Salem
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 17, Iss 2, Pp 165-172 (2016)
Background: Fragile X syndrome (FXS) is the most common form of inherited mental retardation. Frequency of fragile X syndrome among male siblings and relatives of mentally retarded patients is relatively high. Cytogenetic diagnosis of FXS is unreliab
Externí odkaz:
https://doaj.org/article/d793744519f444b5b978453cfdc788cd
Autor:
Lantip Rujito, Dwi Kustiani, Lies Anne Severijnen, Peter Hanzon, Sultana MH Faradz, Rob Willemsen
Publikováno v:
Universa Medicina, Vol 30, Iss 1, Pp 11-21 (2016)
The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome. Antibody test
Externí odkaz:
https://doaj.org/article/6c0dd384b6b5400ab02b3e1842c471c5