Detalhe da pesquisa
1.
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Am J Hum Genet
; 88(5): 635-42, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549344
2.
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.
J Med Genet
; 47(12): 816-22, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19752157
3.
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Hum Mol Genet
; 17(14): 2172-80, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18411254
4.
A novel low-penetrance locus for familial glioma at 15q23-q26.3.
Cancer Res
; 62(13): 3798-802, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12097292
5.
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Hum Mutat
; 26(3): 282, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16088922
6.
Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.
Epilepsy Res
; 88(1): 65-75, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19914042
7.
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Eur J Hum Genet
; 18(8): 872-80, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179744
8.
Pitt-Hopkins syndrome in two patients and further definition of the phenotype.
Clin Dysmorphol
; 15(2): 47-54, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16531728
9.
Cancer incidence in families with multiple glioma patients.
Int J Cancer
; 97(6): 819-22, 2002 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-11857361
10.
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause.
Pediatrics
; 109(3): 441-8, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11875139