Detalhe da pesquisa
1.
Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder.
Mol Psychiatry
; 17(4): 421-32, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21358712
2.
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Nat Genet
; 11(2): 201-3, 1995 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-7550350
3.
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Nat Genet
; 24(3): 275-8, 2000 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-10700182
4.
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Nat Genet
; 28(3): 218-9, 2001 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-11431690
5.
Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder.
Mol Psychiatry
; 14(5): 487-91, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19088739
6.
Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2.
Mol Psychiatry
; 14(1): 30-6, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18813210
7.
[Heterozygous alpha-1-antitrypsin deficiency (PiMZ): risk factor in the development of primary liver carcinoma in non-cirrhotic liver?]. / Heterozygoter Alpha-1-Antitrypsin-Mangel (PiMZ): Risikofaktor zur Entwicklung eines hepatozellulären Karzinoms in der nicht zirrhotischen Leber?
Z Gastroenterol
; 48(10): 1211-4, 2010 Oct.
Artigo
Alemão
| MEDLINE | ID: mdl-20886426
8.
Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorder.
Mol Psychiatry
; 13(3): 277-84, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17938632
9.
A potassium channel mutation in neonatal human epilepsy.
Science
; 279(5349): 403-6, 1998 Jan 16.
Artigo
Inglês
| MEDLINE | ID: mdl-9430594
10.
Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening.
Endoscopy
; 41(4): 316-22, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19340735
11.
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
J Med Genet
; 44(11): 702-9, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17873119
12.
CNTF and psychiatric disorders.
Nat Genet
; 13(2): 142-3; author reply 144, 1996 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-8640216
13.
S3 guidelines for colorectal carcinoma: results of an evidence-based consensus conference on February 6/7, 2004 and June 8/9, 2007 (for the topics IV, VI and VII).
Z Gastroenterol
; 48(1): 65-136, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20072998
14.
[Detection of germline mutations in the APC gene with the protein truncation test].
Yi Chuan Xue Bao
; 32(9): 903-8, 2005 Sep.
Artigo
Chinês
| MEDLINE | ID: mdl-16201232
15.
Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(3): 261-4, 2005 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-15952110
16.
"Second hit" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation.
J Invest Dermatol
; 116(3): 463-5, 2001 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-11231323
17.
Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia.
J Invest Dermatol
; 113(6): 954-9, 1999 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-10594736
18.
Pharmacological properties of naturally occurring variants of the human norepinephrine transporter.
Pharmacogenetics
; 10(5): 397-405, 2000 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-10898109
19.
Modified ligand binding to the naturally occurring Cys-124 variant of the human serotonin 5-HT1B receptor.
Pharmacogenetics
; 9(1): 95-102, 1999 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-10208648
20.
Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients.
Pharmacogenetics
; 11(1): 21-7, 2001 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-11207027