Vickie J. Kubly

发表

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Vicente E. Torres, Dawn S. Milliner, Peter C. Harris, 2002, Nature Genetics.

Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

P. Kamath, V. Torres, P. Harris, 2006, Medicine.

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

Roser Torra, E. Coto, V. Torres, 2003, Kidney international.

The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

D. Schaid, S. Thibodeau, S. McDonnell, 2001, American journal of human genetics.

Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease.

James Glockner, Eric J Bergstralh, Bernard F King, 2010, Journal of the American Society of Nephrology : JASN.

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

V. Torres, P. Harris, K. Hopp, 2009, Kidney international.

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype

Jeffrey M Slezak, E. Bergstralh, F. Stewart, 2003, The Lancet.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

K. Bae, S. Özen, A. Chapman, 2008, Kidney international.

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

B. Eckloff, V. Torres, P. Harris, 2012, Journal of the American Society of Nephrology : JASN.

Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3

E. Bakker, V. Torres, P. Harris, 2007, Human Genetics.

A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.

V. Pankratz, E. Puffenberger, K. Strauss, 2011, Ophthalmology.

Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

Robert D. Brown, M. Irazabal, V. Torres, 2011, Clinical journal of the American Society of Nephrology : CJASN.

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

B. Eckloff, V. Torres, P. Harris, 2012, Journal of the American Society of Nephrology : JASN.

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

K. Hopp, S. Rossetti, D. Chauveau, 2009, Kidney international.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

S. Özen, A. Chapman, P. Lundquist, 2008, Kidney international.

Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease.

Robert D. Brown, V. Torres, P. Harris, 2004, Kidney international.

Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease.

N. LaRusso, Bohyun Kim, J. Glockner, 2010, Journal of the American Society of Nephrology : JASN.

Evidence of a third ADPKD locus is not supported by reanalysis of designated PKD3 families

E. Coto, M. Clementi, V. Torres, 2013, Kidney international.