Detalles de la búsqueda
1.
A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease.
Hum Mutat
; 37(1): 65-73, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26466920
2.
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.
Hum Genomics
; 9: 25, 2015 Oct 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-26446085
3.
Complexity and robustness in hypernetwork models of metabolism.
J Theor Biol
; 406: 99-104, 2016 10 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27354314
4.
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.
Hum Genomics
; 7: 18, 2013 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23947441
5.
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Nat Genet
; 37(7): 692-700, 2005 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15924140
6.
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Hum Genomics
; 6: 12, 2012 Aug 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-23244495
7.
Gene conversion: mechanisms, evolution and human disease.
Nat Rev Genet
; 8(10): 762-75, 2007 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17846636
8.
Towards In Silico Identification of Genes Contributing to Similarity of Patients' Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia.
Genes (Basel)
; 14(9)2023 09 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37761935
9.
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
Hum Mutat
; 33(11): 1599-609, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22837079
10.
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.
Hum Mutat
; 33(2): 372-83, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22045503
11.
Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.
J Biol Chem
; 286(12): 10017-26, 2011 Mar 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-21285356
12.
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease.
Hum Genomics
; 5(4): 241-64, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21712188
13.
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.
Hum Mutat
; 32(6): 620-32, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21432943
14.
In Silico identification of pathogenic strains of Cronobacter from Biochemical data reveals association of inositol fermentation with pathogenicity.
BMC Microbiol
; 11: 204, 2011 Sep 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-21933417
15.
Gain-of-glycosylation mutations.
Curr Opin Genet Dev
; 17(3): 245-51, 2007 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-17467977
16.
Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.
Hum Genomics
; 4(5): 289-301, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20650818
17.
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.
Hum Genomics
; 4(6): 406-10, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20846930
18.
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene.
Hum Genomics
; 4(6): 384-93, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20846927
19.
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.
Hum Mutat
; 31(10): 1163-73, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20725927
20.
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
Hum Mutat
; 31(6): 742-51, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20506354