Detalhe da pesquisa
1.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242139
2.
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Am J Hum Genet
; 90(2): 356-62, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284827
3.
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.
Circ Res
; 112(6): 956-60, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23410910
4.
Gene-gene interactions in breast cancer susceptibility.
Hum Mol Genet
; 21(4): 958-62, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072393
5.
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Hum Mutat
; 34(1): 23-31, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23074044
6.
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
J Med Genet
; 48(4): 251-5, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266381
7.
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
PLoS One
; 17(10): e0274867, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227936
8.
Legius syndrome in fourteen families.
Hum Mutat
; 32(1): E1985-98, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21089071
9.
Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?
Am J Med Genet A
; 155A(11): 2762-5, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21954173
10.
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Nat Cancer
; 2(6): 643-657, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164627
11.
Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals.
Stroke
; 41(4): 630-4, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20167921
12.
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
Hum Genet
; 127(2): 231-41, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19911200
13.
Lipedema: an inherited condition.
Am J Med Genet A
; 152A(4): 970-6, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358611
14.
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Am J Med Genet A
; 152A(9): 2287-96, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803646
15.
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nat Commun
; 10(1): 1951, 2019 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028252
16.
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb.
Circulation
; 115(14): 1912-20, 2007 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-17372167
17.
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.
Eur J Hum Genet
; 16(3): 300-4, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18197197
18.
Phenotypic characterization of primary lymphedema.
Ann N Y Acad Sci
; 1131: 140-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18519967
19.
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Hum Mutat
; 28(9): 928, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17657824
20.
A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region.
Arch Ophthalmol
; 125(1): 86-92, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17210857