Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Anna Ravella"'
Autor:
Yolanda Benavente, Jaume Mercadé, Ignacio Blanco, Conxi Lázaro, Anna Ravella, Eva Pros, Eduard Serra, Hildegard Kehrer-Sawatzki, Llúcia Benito, Ernest Terribas, Carles Garcia-Linares, Gabriel Capellá, Juana Fernández-Rodríguez
Publikováno v:
Human Mutation
Dermal neurofibromas (dNFs) are benign tumors of the peripheral nervous system typically associated with Neurofibromatosis type 1 (NF1) patients. Genes controlling the integrity of the DNA are likely to influence the number of neurofibromas developed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8735819738d71769d14646543751fb0
https://doi.org/10.1002/humu.21387
https://doi.org/10.1002/humu.21387
Autor:
Gabriel Capellá, Ignacio Blanco, Carolina Gómez, M. Lluïsa Gili, Conxi Lázaro, Eduard Serra, Eva López, Anna Ravella, Eva Pros, Carles García
Publikováno v:
Genes, Chromosomes and Cancer. 46:820-827
The neurofibromatosis type 1 gene has one of the highest mutation rates in humans: about 50% of NF1 patients are de novo cases. Although direct mutation characterization has greatly improved over the past decade, in the context of clinical genetics s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38a4eba45c3efb41b2ad2e76e79aab4d
https://doi.org/10.1002/gcc.20468
https://doi.org/10.1002/gcc.20468
Publikováno v:
New England Journal of Medicine. 331:1403-1407
Background The mutation rate of the neurofibromatosis type 1 (NF1) gene is one of the highest in the human genome, with about 50 percent of cases being due to new mutations. We describe a family in which neurofibromatosis type 1 occurred in two sibli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aec0df13e3d2f7eff078fb6a628deddf
https://doi.org/10.1056/nejm199411243312102
https://doi.org/10.1056/nejm199411243312102
Autor:
Conxi Lázaro, Juana Fernández-Rodríguez, Eduard Serra, Ignacio Blanco, Llúcia Benito, Gabriel Capellá, Anna Ravella, Eva Pros
Publikováno v:
European journal of human genetics : EJHG. 18(5)
Neurofibromatosis type 1 is one of the most common neurocutaneous autosomal dominant disorders. It is caused by mutations in the neurofibromatosis type 1 (NF1) gene and approximately 30–40% of them affect the correct splicing of NF1 pre-mRNA. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adefcd470fb7ad50dffbbd7f2f297bd0
https://pubmed.ncbi.nlm.nih.gov/19935827
https://pubmed.ncbi.nlm.nih.gov/19935827
Autor:
M. Lluïsa Gili, Conxi Lázaro, Anna Ravella, Eva Pros, Eduard Serra, Sara Larriba, H Kruyer, Eva López, Joan Valls
Publikováno v:
Human mutation. 27(11)
A significant number of neurofibromatosis type 1 (NF1) mutations result in exon skipping. The majority of these mutations do not occur in the canonical splice sites and can produce different aberrant transcripts whose proportions have not been well s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5e13e020fe52b2c164fb37efa1e70d0
https://pubmed.ncbi.nlm.nih.gov/16937374
https://pubmed.ncbi.nlm.nih.gov/16937374
Autor:
Conxi Lázaro, Elisabet Ars, Eduard Serra, Marta Morell, Anna Ravella, Eva Pros, H Kruyer, Xavier Estivill
Publikováno v:
Journal of medical genetics. 40(6)
Neurofibromatosis type 1 (NF1) is one of the commonest autosomal dominant disorders in man, affecting 1 in 3500 people. Consensus clinical criteria were defined in 19871 and revised and updated in 1997.2 Cafe au lait spots, axillary freckling, dermal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::368249dbe94c7df2b7aa9b16bc83f937
https://pubmed.ncbi.nlm.nih.gov/12807981
https://pubmed.ncbi.nlm.nih.gov/12807981
Publikováno v:
Prenatal diagnosis. 15(2)
Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8db699ae7d3ddeb669a2c6437f659089
https://pubmed.ncbi.nlm.nih.gov/7784363
https://pubmed.ncbi.nlm.nih.gov/7784363
Autor:
Conxi Lázaro, Xavier Estivill, Anna Ravella, Teresa Casals, Victor Volpini, Antonia Gaona, J.J. Fuentes
Publikováno v:
Human molecular genetics. 2(6)
Neurofibromatosis type 1 (NF1) (von Recklinghausen) is a common autosomal dominant disorder, characterised by the presence of peripheral neurofibromas, cafe-au-lait spots and Lisch nodules of the iris. Due to the high mutation rate at the NF1 locus,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8159986010844015d118a75f996a9f8f
https://pubmed.ncbi.nlm.nih.gov/8353492
https://pubmed.ncbi.nlm.nih.gov/8353492
Publikováno v:
Human Genetics. 88
The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::790901501a291ebb5908ac65954cb7db
https://doi.org/10.1007/bf00206069
https://doi.org/10.1007/bf00206069
Publikováno v:
The Lancet. 339:119-120
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d747a50abed1ff42a04bc5499461fab
https://doi.org/10.1016/0140-6736(92)91024-3
https://doi.org/10.1016/0140-6736(92)91024-3