Detalhe da pesquisa
1.
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
J Med Genet
; 59(10): 1017-1023, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121649
2.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
3.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
4.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
5.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
6.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178382
7.
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.
Neurogenetics
; 13(3): 267-74, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22752724
8.
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
Proc Natl Acad Sci U S A
; 105(47): 18608-13, 2008 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-19017801
9.
Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.
BMC Cancer
; 10: 407, 2010 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20687928
10.
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Hum Genet
; 125(1): 29-39, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19050931
11.
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Nat Commun
; 10(1): 797, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770808
12.
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
Eur J Hum Genet
; 16(8): 888-96, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285825
13.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
Neuromuscul Disord
; 28(3): 208-215, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29433793
14.
Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.
PLoS One
; 10(10): e0141735, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26509978
15.
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
Biomed Res Int
; 2014: 195793, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24987673
16.
A highly sensitive genetic protocol to detect NF1 mutations.
J Mol Diagn
; 13(2): 113-22, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21354044
17.
Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
Genet Test Mol Biomarkers
; 15(9): 587-94, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21548796
18.
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
Neuromuscul Disord
; 21(6): 413-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21546251
19.
Progress and challenges in developing a molecular diagnostic test for neurofibromatosis type 1.
Expert Rev Mol Diagn
; 11(7): 671-3, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21902526
20.
Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
Hum Genet
; 110(3): 257-63, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11935338