Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Angela F. Davies"'
Autor:
Norma Timoney, Maja Hempel, Angela F. Davies, Camille Cenni, Muriel Holder-Espinasse, Ellen Thomas, Tim M. Strom, Alessandra Frigiola, Malcolm Logan, Stephanie Andres
Publikováno v:
European journal of medical genetics. 64(7)
Holt-Oram syndrome (HOS) is a rare, autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene. A wide spectrum of TBX5 mutations have been reported previously, most resulting in a null allele leading to haploinsufficiency. TBX5 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a0a536d669425b0cab294e087624542
https://pubmed.ncbi.nlm.nih.gov/33930582
https://pubmed.ncbi.nlm.nih.gov/33930582
Autor:
Frank A. Giordano, Angela F. Davies, Hanna Kymalainen, George Dickson, Sherif G. Ahmed, Rafael J. Yáñez-Muñoz, Stephanie Laufs, Juergen Bode, Manfred G. Schmidt, Caroline Mackie Ogilvie, Uwe Appelt
Publikováno v:
Human Gene Therapy. 25:428-442
Nonintegrating gene delivery vectors have an improved safety profile compared with integrating vectors, but transgene retention is problematic as nonreplicating episomes are progressively and rapidly diluted out through cell division. We have develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a35e3bdd3287690a727f4afbb3b9af6
https://doi.org/10.1089/hum.2013.172
https://doi.org/10.1089/hum.2013.172
Autor:
Angela F. Davies, Farkhondeh Behjati, Hossein Najmabadi, Kimia Kahrizi, Yousef Shafeghati, Saghar Ghasemi Firouzabadi, Neil Dixon
Publikováno v:
American Journal of Medical Genetics Part A. :3223-3226
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f349afc9c6ccb9218009c75a75e5c27
https://doi.org/10.1002/ajmg.a.32575
https://doi.org/10.1002/ajmg.a.32575
Publikováno v:
American Journal of Medical Genetics. :483-489
Telomeric repeat sequences (TTAGGG) are known to cap the termini of every human chromosome. Proximal to these repeat sequences are chromosome-specific repeat sequences, which in turn are distal to gene-rich regions. Submicroscopic, subtle, or cryptic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753e497f1638d16ed13443b28644fdc3
https://doi.org/10.1002/ajmg.a.20056
https://doi.org/10.1002/ajmg.a.20056
Autor:
Jean W. Keeling, Jonathan Berg, Alison Male, David R. FitzPatrick, Caroline Mackie Ogilvie, Angela F. Davies, Anne Bergbaum
Publikováno v:
European Journal of Human Genetics. 10:807-812
Anophthalmia or microphthalmia occur in approximately one in 10 children who have severe visual impairment. These eye malformations are often of unknown aetiology, but can be inherited in autosomal dominant, recessive or X-linked forms, and can also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ffeb027aaffe30a63c739ff9042ed38
https://doi.org/10.1038/sj.ejhg.5200890
https://doi.org/10.1038/sj.ejhg.5200890
Publikováno v:
Cancer Genetics and Cytogenetics. 117:149-152
The chromosomal characterization of a non-small cell lung cancer cell line (NCIH358) is described. This characterization was achieved using a simple, cheap and technically straightforward multiwell fluorescence in situ hybridization (FISH) method. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ecce39671ed2fea3a4ae9dea9d60408
https://doi.org/10.1016/s0165-4608(99)00148-x
https://doi.org/10.1016/s0165-4608(99)00148-x
Autor:
John Trowsdale, Jiannis Ragoussis, Adrian P. Kelly, Caroline Mackie, Stewart A. Fabb, Isabel Correa, Angela F. Davies
Publikováno v:
Human Molecular Genetics. 6:1295-1304
The human B lymphoblastoid cell line (LCL) 721.174 sustains a large homozygous deletion in the major histocompatibility complex (MHC) class II region that results in an absence of DQ and DR molecules as well as a deficiency in the assembly and transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7719daa8c476a656960350a813cfa6d6
https://doi.org/10.1093/hmg/6.8.1295
https://doi.org/10.1093/hmg/6.8.1295
Our study provides an analysis of the outcome of meiotic segregation of three-way translocations in cleavage-stage embryos and the accuracy and limitations of preimplantation genetic diagnosis (PGD) using the fluorescence in situ hybridization techni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707355c997fd62f7250db74ba7439d43
https://europepmc.org/articles/PMC4023212/
https://europepmc.org/articles/PMC4023212/
Autor:
Rosemarie Davidson, Richard J. Stephens, Angela F. Davies, Iman Abusaad, Mark G. Olavesen, Nicole Van Regemorter, Jiannis Ragoussis, Frances Flinter, Daniele Delneste, E. Vamos
Publikováno v:
Human Genetics. 98:454-459
Deletions of the short arm of chromosome 6 are relatively rare, only 16 cases having been described in the literature so far. Here we present a detailed investigation by fluorescence in situ hybridisation of two further cases with different but overl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dec99bbcc606f121eca4acc9813f2f9
https://doi.org/10.1007/s004390050239
https://doi.org/10.1007/s004390050239
Autor:
I. P. M. Tomlinson, S. M. Huson, Walter F. Bodmer, Eddie Maher, Angela F. Davies, David Markie
Publikováno v:
Human Genetics. 98:125-128
Karyotypic analysis in a patient with Peutz-Jeghers' syndrome demonstrated a pericentric inversion on chromosome 6. Further investigation was undertaken using fluorescence in situ hybridisation (FISH) with yeast artificial chromosome clones selected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0c377f08f96b5110d4b2ff97c18eb8
https://doi.org/10.1007/s004390050173
https://doi.org/10.1007/s004390050173