Detalles de la búsqueda
1.
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Hum Mutat
; 41(1): 38-57, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31517426
2.
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
PLoS Genet
; 12(1): e1005756, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26761715
3.
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Hum Mol Genet
; 21(24): 5306-17, 2012 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22983954
4.
Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
PLoS Genet
; 12(4): e1005971, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-27049861
5.
Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
Hum Mutat
; 34(11): 1547-57, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23983145
6.
Worse prognosis of KRAS c.35 G > A mutant metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx).
BMC Med
; 11: 59, 2013 Mar 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-23497191
7.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol
; 126(3): 427-42, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23820807
8.
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
J Med Genet
; 49(10): 609-17, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22962691
9.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Hum Mutat
; 33(8): 1228-38, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22505045
10.
Prognostic value of KRAS genotype in metastatic colorectal cancer (MCRC) patients treated with intensive triplet chemotherapy plus bevacizumab (FIr-B/FOx) according to extension of metastatic disease.
BMC Med
; 10: 135, 2012 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-23136868
11.
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
Hum Mutat
; 32(9): 989-94, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21542063
12.
The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
J Med Genet
; 47(6): 398-403, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20522429
13.
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
Hum Mutat
; 31(1): E1110-25, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19953646
14.
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Hum Mutat
; 30(2): E320-9, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19023858
15.
Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.
Mod Pathol
; 22(9): 1186-95, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19503063
16.
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Hum Mutat
; 29(12): 1412-24, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18561205
17.
Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomas.
Haematologica
; 93(4): 543-50, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18287131
18.
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
Eur J Hum Genet
; 15(10): 1054-62, 2007 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17609673
19.
Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinoma.
Mol Immunol
; 43(14): 2161-8, 2006 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-16529817
20.
Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
Hum Mutat
; 27(3): 295-6, 2006 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-16470590