Detalhe da pesquisa
1.
A recurrent mutation in PALB2 in Finnish cancer families.
Nature
; 446(7133): 316-9, 2007 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17287723
2.
Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.
Am J Med Genet B Neuropsychiatr Genet
; 156B(4): 448-53, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21438145
3.
Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families.
Breast Cancer Res
; 12(4): R50, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20637093
4.
Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation.
Eur J Med Genet
; 56(7): 389-96, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23707653
5.
Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.
Invest Ophthalmol Vis Sci
; 52(3): 1450-9, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20881290
6.
Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
J Child Neurol
; 24(5): 610-4, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19264739
7.
Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.
Carcinogenesis
; 28(5): 1040-5, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17166884
8.
Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
Biochem Biophys Res Commun
; 338(3): 1391-401, 2005 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-16271705
9.
MECP2 mutation analysis in patients with mental retardation.
Am J Med Genet A
; 132A(2): 121-4, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15578581