Výsledky vyhledávání - "Vickie J, Kubly"

Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families

Autor: Moonnoh R. Lee, Mark B. Consugar, Vicente E. Torres, Daniel G. Bichet, Eliecer Coto, Edgar Almeida, Jamie L. Sundsbak, Maurizio Clementi, Katharina Hopp, Vickie J. Kubly, Sandro Rossetti, Peter C. Harris, Nadja Bogdanova, Christina M. Heyer, Binu M. Paul

Publikováno v: Kidney International. 85:383-392

Mutations to PKD1 and PKD2 are associated with autosomal dominant polycystic kidney disease (ADPKD). The absence of apparent PKD1/PKD2 linkage in five published European or North American families with ADPKD suggested a third locus, designated PKD3 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ca9d521855023ad28c7ffdf664854c7
https://doi.org/10.1038/ki.2013.227

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A Novel Mutation of LAMB2 in a Multigenerational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome

Autor: Marie C. Hogan, Peter C. Harris, Erik G. Puffenberger, V. Shane Pankratz, Mark B. Consugar, Vickie J. Kubly, Jose S. Pulido, Brian G. Mohney, Stephen J. Smith, Rebecca Nielson, Noralane M. Lindor, Samih H. Nasr, Lama El-Dahdah, Kevin A. Strauss, Justin P. Peters, Dorothy Spencer, D. Holmes Morton, James M. Gloor

Publikováno v: Ophthalmology. 118:1137-1144

Purpose To describe a novel laminin β-2 ( LAMB2 ) mutation associated with nephrotic syndrome and severe retinal disease without microcoria in a large, multigenerational family with Pierson syndrome. Design Retrospective chart review and prospective

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2316b6d9c8dc23fc9f28bdc6a4057dfd
https://doi.org/10.1016/j.ophtha.2010.10.009

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Extended Follow-Up of Unruptured Intracranial Aneurysms Detected by Presymptomatic Screening in Patients with Autosomal Dominant Polycystic Kidney Disease

Autor: Vicente E. Torres, Marie C. Hogan, Peter C. Harris, Sandro Rossetti, Maria V. Irazabal, Vickie J. Kubly, John Huston, Jamie L. Sundsbak, Robert D. Brown

Publikováno v: Clinical Journal of the American Society of Nephrology. 6:1274-1285

Background and objectives Autosomal dominant polycystic kidney disease (ADPKD) patients have an increased risk for intracranial aneurysms (IAs). The importance of screening for unruptured IAs (UIAs) depends on their risks for growth and rupture. Desi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d49dfd9b0ca4ebee26f1b1acc262525
https://doi.org/10.2215/cjn.09731110

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

Autor: Patrick S. Kamath, Peter C. Harris, Mounif El-Youssef, Vickie J. Kubly, Magdalena Adeva, Mark B. Consugar, Vicente E. Torres, Sandro Rossetti, Dawn M. Milliner, Bernard F. King

Publikováno v: Medicine. 85:1-21

The autosomal recessive form of polycystic kidney disease (ARPKD) is generally considered an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys detected in utero or within the neonatal period, often resulting in ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfaf2d8404bcdaecec575e5529ce6773
https://doi.org/10.1097/01.md.0000200165.90373.9a

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Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing

Autor: Jamie L. Sundsbak, Robert A. Sikkink, Vicente E. Torres, Katharina Hopp, Christopher G. Winearls, Peter C. Harris, Yean Kit Lee, Christopher J. Ward, Bruce W. Eckloff, Sandro Rossetti, Vickie J. Kubly

Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1-32 as six pseudogenes on chromosome 16, the high level of allelic heterogeneity, and the cost of Sange

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1548c81a3300b934341e26cef16552c2
https://europepmc.org/articles/PMC3338301/

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Randomized Clinical Trial of Long-Acting Somatostatin for Autosomal Dominant Polycystic Kidney and Liver Disease

Autor: David R. Holmes, Xujian Li, Bohyun Kim, Marie C. Hogan, Peter C. Harris, Tetyana V. Masyuk, James F. Glockner, Eric J. Bergstralh, Bernard F. King, Vicente E. Torres, Sandro Rossetti, Vickie J. Kubly, Nicholas F. LaRusso, Linda J. Page

There are no proven, effective therapies for polycystic kidney disease (PKD) or polycystic liver disease (PLD). We enrolled 42 patients with severe PLD resulting from autosomal dominant PKD (ADPKD) or autosomal dominant PLD (ADPLD) in a randomized, d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a132dc915a17e0db58504af3d5f49f5
https://europepmc.org/articles/PMC2900957/

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

Autor: Sandro, Rossetti, Vickie J, Kubly, Mark B, Consugar, Katharina, Hopp, Sushmita, Roy, Sharon W, Horsley, Dominique, Chauveau, Lesley, Rees, T Martin, Barratt, William G, van't Hoff, Patrick, Niaudet, W Patrick, Niaudet, Vicente E, Torres, Peter C, Harris

Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely diagnosed in utero with enlarged, echogenic kidneys. Somatic mutations are t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f172a76abe05fd1c8a61573b7fa72a5b
https://europepmc.org/articles/PMC2813773/

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

Autor: Peter C. Harris, Wai Chong Wong, Vicente E. Torres, Mark B. Consugar, Vickie J. Kubly, Vincent H. Gattone, Donna J. Lager, Martijn H. Breuning, Egbert Bakker, Cynthia J. Hommerding

Publikováno v: Human genetics. 121(5)

Meckel-Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital encephalocele, polydactyly and biliary dysgenesis. MKS is genetically heterogeneous with three loci mapped and two identified;

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b95634b9313b4aa4850f96ebe6c15e
https://pubmed.ncbi.nlm.nih.gov/17377820

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

Publikováno v: Kidney International. (11):1468-1479

Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease ( ADPKD) is caused by mutations in either PKD1 or P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60ff9f500943e9a326d0bef6f2ee2211

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