Detalhe da pesquisa
1.
Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.
Hum Mol Genet
; 32(6): 897-906, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130218
2.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
3.
Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
BMC Cancer
; 19(1): 1145, 2019 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31771539
4.
Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
BMC Cancer
; 19(1): 1227, 2019 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31847820
5.
Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 20(10): 1236-1245, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323665
6.
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Hum Mol Genet
; 24(3): 659-69, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256356
7.
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Hum Mutat
; 37(3): 301-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26694085
8.
Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.
Am J Med Genet A
; 170(6): 1485-94, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26991864
9.
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
BMC Med Genet
; 16: 68, 2015 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26293599
10.
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Eur J Hum Genet
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433266
11.
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
Mol Vis
; 18: 3070-8, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23304067
12.
Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.
Orphanet J Rare Dis
; 16(1): 77, 2021 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568143
13.
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
Am J Med Genet A
; 152A(5): 1213-24, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425826
14.
A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.
Genes (Basel)
; 10(10)2019 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658606
15.
Clinical manifestations of homozygote allele carriers in Huntington disease.
Neurology
; 92(18): e2101-e2108, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30867264
16.
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Mol Genet Genomic Med
; 7(11): e972, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31566936
17.
[Implementing a population-based rare diseases registry in Spain: the Navarre´s experience]. / Implementando un registro poblacional de enfermedades raras en España: La experiencia de Navarra.
Rev Esp Salud Publica
; 922018 Nov 19.
Artigo
em Espanhol
| MEDLINE | ID: mdl-30442882
18.
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Neuromuscul Disord
; 17(8): 624-30, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17587580
19.
Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).
J Neurol
; 254(3): 322-6, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17345049
20.
The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.
Mol Neurobiol
; 54(5): 3906-3910, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27924526