Detalhe da pesquisa
1.
Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia.
Mol Psychiatry
; 17(12): 1328-39, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21968932
2.
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24.
Nat Genet
; 14(2): 214-7, 1996 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-8841199
3.
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
Clin Genet
; 74(1): 82-7, 2008 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-18537981
4.
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
J Med Genet
; 42(12): e69, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16326826
5.
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Hum Mutat
; 17(1): 77-8, 2001.
Artigo
Inglês
| MEDLINE | ID: mdl-11139256
6.
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
Eur J Hum Genet
; 7(5): 560-6, 1999 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-10439962
7.
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.
Eur J Hum Genet
; 9(2): 97-104, 2001 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-11313742
8.
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
Neurology
; 58(2): 231-6, 2002 Jan 22.
Artigo
Inglês
| MEDLINE | ID: mdl-11805249
9.
Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies.
Neuromuscul Disord
; 10(8): 578-83, 2000 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-11053685
10.
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.
Neuromuscul Disord
; 10(8): 584-91, 2000 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-11053686
11.
The EUROGEM map of human chromosome 10.
Eur J Hum Genet
; 2(3): 222-3, 1994.
Artigo
Inglês
| MEDLINE | ID: mdl-7834290
12.
From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks.
Ann Hum Genet
; 60(1): 35-49, 1996 01.
Artigo
Inglês
| MEDLINE | ID: mdl-8835097
13.
Double mutant alleles: are they rare?
Hum Mol Genet
; 4(7): 1169-71, 1995 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-8528204
14.
Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred.
Ann Neurol
; 46(1): 36-44, 1999 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-10401778
15.
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.
Am J Hum Genet
; 67(3): 664-71, 2000 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-10915613
16.
Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study.
Hum Genet
; 99(4): 513-20, 1997 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-9099843
17.
SSCP analysis: a blind sensitivity trial.
Hum Mutat
; 10(1): 65-70, 1997.
Artigo
Inglês
| MEDLINE | ID: mdl-9222762
18.
Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.
Hum Mutat
; 3(4): 353-7, 1994.
Artigo
Inglês
| MEDLINE | ID: mdl-8081388
19.
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.
Hum Mutat
; 6(3): 219-25, 1995.
Artigo
Inglês
| MEDLINE | ID: mdl-8535440
20.
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Am J Hum Genet
; 65(5): 1299-307, 1999 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-10521295