Detalhe da pesquisa
1.
Positional cloning moves from perditional to traditional.
Nat Genet
; 9(4): 347-50, 1995 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-7795639
2.
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.
Nat Genet
; 3(2): 122-6, 1993 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-8499945
3.
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis.
Nat Genet
; 14(4): 441-7, 1996 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-8944024
4.
Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines.
Nat Genet
; 3(2): 118-21, 1993 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-8499944
5.
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals.
Nat Genet
; 11(2): 198-200, 1995 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-7550349
6.
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.
Nat Genet
; 24(1): 27-35, 2000 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-10615123
7.
Evolutionary sequence comparisons using high-density oligonucleotide arrays.
Nat Genet
; 18(2): 155-8, 1998 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-9462745
8.
Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.
Nat Genet
; 9(4): 439-43, 1995 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-7795652
9.
Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues.
Nat Genet
; 5(3): 259-65, 1993 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-8275091
10.
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
Nat Genet
; 16(3): 235-42, 1997 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-9207787
11.
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays.
Nat Genet
; 22(2): 164-7, 1999 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-10369258
12.
Somatic mutation of the MEN1 gene in parathyroid tumours.
Nat Genet
; 16(4): 375-8, 1997 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-9241276
13.
Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.
Diabetologia
; 55(1): 114-22, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22038520
14.
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.
Diabetologia
; 54(1): 111-9, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20878384
15.
Cystic fibrosis: molecular biology and therapeutic implications.
Science
; 256(5058): 774-9, 1992 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-1375392
16.
The mammalian gene collection.
Science
; 286(5439): 455-7, 1999 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-10521335
17.
New goals for the U.S. Human Genome Project: 1998-2003.
Science
; 282(5389): 682-9, 1998 Oct 23.
Artigo
Inglês
| MEDLINE | ID: mdl-9784121
18.
A bacterial system for investigating transport effects of cystic fibrosis--associated mutations.
Science
; 254(5028): 109-11, 1991 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-1718037
19.
Construction of a general human chromosome jumping library, with application to cystic fibrosis.
Science
; 235(4792): 1046-9, 1987 Feb 27.
Artigo
Inglês
| MEDLINE | ID: mdl-2950591
20.
Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia.
Science
; 261(5124): 1041-4, 1993 Aug 20.
Artigo
Inglês
| MEDLINE | ID: mdl-8351518