Detalhe da pesquisa
1.
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Nature
; 482(7383): 98-102, 2012 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22266938
2.
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.
Proc Natl Acad Sci U S A
; 109(7): 2533-8, 2012 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22308486
3.
SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
Pediatr Nephrol
; 27(11): 2081-2090, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22907601
4.
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
Proc Natl Acad Sci U S A
; 106(14): 5842-7, 2009 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-19289823
5.
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Pediatr Dermatol
; 29(6): 725-31, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22515571
6.
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Proc Natl Acad Sci U S A
; 106(45): 19096-101, 2009 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19861545
7.
High bone density due to a mutation in LDL-receptor-related protein 5.
N Engl J Med
; 346(20): 1513-21, 2002 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-12015390
8.
Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
Am J Hum Genet
; 82(6): 1385, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18551756
9.
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
J Clin Invest
; 125(4): 1703-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25774499
10.
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
Science
; 330(6000): 94-7, 2010 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20798280
11.
Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.
Proc Natl Acad Sci U S A
; 102(8): 2975-9, 2005 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-15684060
12.
Sequence variants in SLITRK1 are associated with Tourette's syndrome.
Science
; 310(5746): 317-20, 2005 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-16224024
13.
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
Am J Hum Genet
; 74(6): 1286-93, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15106122
14.
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.
Science
; 306(5699): 1190-4, 2004 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-15498972
15.
A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria.
Nephrol Dial Transplant
; 19(11): 2893-5, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15496564