Detalhe da pesquisa
1.
Genetic variation across the human olfactory receptor repertoire alters odor perception.
Proc Natl Acad Sci U S A
; 116(19): 9475-9480, 2019 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040214
2.
Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.
Clin Genet
; 85(4): 359-64, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23656395
3.
Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome.
Clin Genet
; 83(6): 553-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22998390
4.
An evaluation of the draft human genome sequence.
Nat Genet
; 29(1): 88-91, 2001 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-11528399
5.
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Nat Genet
; 26(1): 67-70, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10973251
6.
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
J Med Genet
; 47(4): 262-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19797195
7.
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Hum Genet
; 127(5): 583-93, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20177705
8.
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Science
; 293(5538): 2256-9, 2001 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-11567139
9.
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Hum Mutat
; 28(8): 790-6, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17397038
10.
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Nat Commun
; 8(1): 1052, 2017 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29051493
11.
Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation.
FEBS Lett
; 385(3): 185-8, 1996 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-8647247
12.
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Mol Syndromol
; 1(6): 273-281, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190896
13.
Microtubule transport defects in neurological and ciliary disease.
Cell Mol Life Sci
; 62(14): 1556-70, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15924265
14.
Identification, expression, and chromosomal localization of ubiquitin conjugating enzyme 7 (UBE2G2), a human homologue of the Saccharomyces cerevisiae ubc7 gene.
Genomics
; 51(1): 128-31, 1998 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-9693041
15.
The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome.
Hum Genet
; 98(4): 497-9, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8792829
16.
A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3.
Genomics
; 47(2): 294-9, 1998 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-9479502
17.
Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21.
Hum Genet
; 100(3-4): 477-80, 1997 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-9272176
18.
Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci.
Genomics
; 35(1): 101-8, 1996 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-8661110
19.
Exploring the molecular basis of Bardet-Biedl syndrome.
Hum Mol Genet
; 10(20): 2293-9, 2001 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11673413
20.
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
Hum Genet
; 106(1): 66-72, 2000 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-10982184