Zobrazeno 1 - 10
of 41
pro vyhledávání: '"M.-Y. Yip"'
Autor:
Cristina Robledo, M.-Y. Yip, Kenneth N. Maclean, Pedro A. Pérez-Mancera, Juan Luis García, Alfonso Gutiérrez-Adán, Inés González-Herrero, Isidro Sánchez-García, Anne M. Turner, T. Flores, Manuel Sánchez-Martín, Belén Pintado
Publikováno v:
Cytogenetic and Genome Research. 114:24-29
The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e62a85d8873a84a5c806d35929e3576
https://doi.org/10.1159/000091924
https://doi.org/10.1159/000091924
Publikováno v:
Chromosome Research. 5:81-85
Alu-PRINS was successful in providing positive identification of euchromatin when oligoprimers were used at either extremity of the consensus Alu sequence. This technique was sensitive, as shown by the ability to detect small regions of euchromatin t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50bbabc31043940cd322a45ba42f3583
https://doi.org/10.1023/a:1018457806004
https://doi.org/10.1023/a:1018457806004
Publikováno v:
Journal of Medical Genetics. 33:789-792
An 11 year old boy with short stature, learning difficulties, and no obvious facial anomalies has a ring (3)(p23q29) formed by a break in the short arm at 3p23 and subsequent fusion with 3qter. A second rearrangement involving translocation of the di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15ed5fe3017ef0620244de28e1898fdc
https://doi.org/10.1136/jmg.33.9.789
https://doi.org/10.1136/jmg.33.9.789
Autor:
P A, Pérez-Mancera, I, González-Herrero, K, Maclean, A M, Turner, M-Y, Yip, M, Sánchez-Martín, J L, García, C, Robledo, T, Flores, A, Gutiérrez-Adán, B, Pintado, I, Sánchez-García
Publikováno v:
Cytogenetic and genome research. 114(1)
The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e94134cab2994f5f11006092fb0c365a
https://pubmed.ncbi.nlm.nih.gov/16717446
https://pubmed.ncbi.nlm.nih.gov/16717446
Publikováno v:
Journal of Materials Science Letters. 11:132-134
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4ae2ab13a37104f6d819afab4291369
https://doi.org/10.1007/bf00724667
https://doi.org/10.1007/bf00724667
Publikováno v:
Australian family physician. 29(10)
The incidence of gonadal dysgenesis (hermaphroditism) is recognised to be low. Rarer still is an initial late presentation in the general practice setting.To present a case study of a 35 year old man diagnosed as a hermaphrodite after routine investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::34d075178baf8bbbb06fd1bd997168b6
https://pubmed.ncbi.nlm.nih.gov/11059083
https://pubmed.ncbi.nlm.nih.gov/11059083
Publikováno v:
Cytogenetic and Genome Research. 54:74-76
The genes coding for each human cardiac myosin heavy chain (α-MHC and β-MHC, MYH6 and MYH7, respectively) are tightly linked and the α-MHC gene has been assigned to chromosome 14. In order to provide a more precise regional localization, in situ h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0633b96f2b630c59888900a51782057
https://doi.org/10.1159/000132961
https://doi.org/10.1159/000132961
Publikováno v:
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 5(2)
Alu-PRINS was successful in providing positive identification of euchromatin when oligoprimers were used at either extremity of the consensus Alu sequence. This technique was sensitive, as shown by the ability to detect small regions of euchromatin t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::33151f667ce2d5a218caabb167c49fa6
https://pubmed.ncbi.nlm.nih.gov/9146910
https://pubmed.ncbi.nlm.nih.gov/9146910
The occurrence of multiple exostoses in a carrier of a balanced translocation t(8;11) (q24.11;p15.5) is described. The breakpoint on chromosome 8 is at proximal q24.1 within the critical region reported for Langer-Giedion syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c23e492b4e9f7bf68a9f5b880160286
https://europepmc.org/articles/PMC1017169/
https://europepmc.org/articles/PMC1017169/
Publikováno v:
Australian and New Zealand journal of medicine. 21(1)
A small number of patients positive for the human immunodeficiency virus (HIV) have been reported as developing acute non-lymphoblastic leukaemia (ANLL) and none has achieved remission despite attempts at treatment. We report on a 34-year-old HIV pos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a945011ce2e9e7b9060d61494eb5c7df
https://pubmed.ncbi.nlm.nih.gov/2036079
https://pubmed.ncbi.nlm.nih.gov/2036079