Detalhe da pesquisa
1.
The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease.
Gut
; 64(3): 406-17, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24939571
2.
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Eur J Neurol
; 22(12): 1548-55, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26204789
3.
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
Clin Genet
; 83(6): 565-70, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22978647
4.
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
J Neurol Neurosurg Psychiatry
; 87(11): 1265-1268, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27083531
5.
Interplay between human leukocyte antigen genes and the microbial colonization process of the newborn intestine.
Curr Issues Mol Biol
; 12(1): 1-10, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-19478349
6.
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.
Clin Genet
; 78(6): 554-9, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20584029
7.
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
J Med Genet
; 46(6): 407-11, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19304569
8.
Allelic distribution and the effect of haplotype combination for HLA type II loci in the celiac disease population of the Valencian community (Spain).
Tissue Antigens
; 73(3): 255-61, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19254257
9.
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science
; 271(5254): 1423-7, 1996 Mar 08.
Artigo
Inglês
| MEDLINE | ID: mdl-8596916
10.
Motion estimation of subcellular structures from fluorescence microscopy images.
Annu Int Conf IEEE Eng Med Biol Soc
; 2017: 4419-4422, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29060877
11.
Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.
Eur J Hum Genet
; 4(4): 191-8, 1996.
Artigo
Inglês
| MEDLINE | ID: mdl-8875184
12.
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Eur J Hum Genet
; 4(1): 25-33, 1996.
Artigo
Inglês
| MEDLINE | ID: mdl-8800924
13.
dfh is a Drosophila homolog of the Friedreich's ataxia disease gene.
Gene
; 256(1-2): 35-42, 2000 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-11054533
14.
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Neurology
; 59(12): 1865-72, 2002 Dec 24.
Artigo
Inglês
| MEDLINE | ID: mdl-12499475
15.
Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3.
Am J Med Genet
; 55(3): 387-90, 1995 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-7726242
16.
Chromosome 5 abnormalities in acute lymphoblastic leukemia.
Cancer Genet Cytogenet
; 52(2): 173-9, 1991 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-2021919
17.
Translocation (12;14)(q13;q32) in myelodysplastic syndrome.
Cancer Genet Cytogenet
; 65(1): 76-8, 1993 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-8431921
18.
11q23 abnormalities in children with acute nonlymphocytic leukemia (M4-M5). Association with previous chemotherapy.
Cancer Genet Cytogenet
; 45(1): 1-11, 1990 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-2302676
19.
Cytogenetic evidence of involvement of an early progenitor myeloid cell in 4;11 translocation-associated acute leukemia.
Cancer Genet Cytogenet
; 51(1): 79-84, 1991 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-1984851
20.
Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
Int J Mol Med
; 7(6): 581-9, 2001 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-11351269