Guay-Woodford LM - Search Results

1

NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.

Kaimori JY, Lin CC, Outeda P, Garcia-Gonzalez MA, Menezes LF, Hartung EA, Li A, Wu G, Fujita H, Sato Y, Nakanuma Y, Yamamoto S, Ichimaru N, Takahara S, Isaka Y, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG. Kaimori JY, et al. Sci Rep. 2017 Aug 10;7(1):7733. doi: 10.1038/s41598-017-08284-4. Sci Rep. 2017. PMID: 28798345 Free PMC article.

2

Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease.

Onuchic LF, Schrick JJ, Ma J, Hudson T, Guay-Woodford LM, Zerres K, Woychik RP, Reeders ST. Onuchic LF, et al. Mamm Genome. 1995 Nov;6(11):805-8. doi: 10.1007/BF00539009. Mamm Genome. 1995. PMID: 8597639

3

An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.

Lens XM, Onuchic LF, Wu G, Hayashi T, Daoust M, Mochizuki T, Santarina LB, Stockwin JM, Mücher G, Becker J, Sweeny WE Jr, Avner ED, Guay-Woodford L, Zerres K, Somlo S, Germino GG. Lens XM, et al. Genomics. 1997 May 1;41(3):463-6. doi: 10.1006/geno.1997.4671. Genomics. 1997. PMID: 9169147 Free article.

4

Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.

Mücher G, Becker J, Knapp M, Büttner R, Moser M, Rudnik-Schöneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K. Mücher G, et al. Genomics. 1998 Feb 15;48(1):40-5. doi: 10.1006/geno.1997.5145. Genomics. 1998. PMID: 9503014 Free article.

5

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik-Schöneborn S, Heikkilä P, Rapola J, Salonen R, Germino GG, Onuchic L, Somlo S, Avner ED, Harman LA, Stockwin JM, Guay-Woodford LM. Zerres K, et al. Am J Med Genet. 1998 Mar 5;76(2):137-44. Am J Med Genet. 1998. PMID: 9511976

6

A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.

Park JH, Dixit MP, Onuchic LF, Wu G, Goncharuk AN, Kneitz S, Santarina LB, Hayashi T, Avner ED, Guay-Woodford L, Zerres K, Germino GG, Somlo S. Park JH, et al. Genomics. 1999 Apr 15;57(2):249-55. doi: 10.1006/geno.1999.5777. Genomics. 1999. PMID: 10198164

7

Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene.

Onuchic LF, Mrug M, Lakings AL, Muecher G, Becker J, Zerres K, Avner ED, Dixit M, Somlo S, Germino GG, Guay-Woodford LM. Onuchic LF, et al. Mamm Genome. 1999 Dec;10(12):1175-8. doi: 10.1007/s003359901186. Mamm Genome. 1999. PMID: 10594243 No abstract available.

8

Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease.

Hofmann Y, Becker J, Wright F, Avner ED, Mrug M, Guay-Woodford LM, Somlo S, Zerres K, Germino GG, Onuchic LF. Hofmann Y, et al. Eur J Hum Genet. 2000 Mar;8(3):163-6. doi: 10.1038/sj.ejhg.5200426. Eur J Hum Genet. 2000. PMID: 10780780

9

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG. Onuchic LF, et al. Am J Hum Genet. 2002 May;70(5):1305-17. doi: 10.1086/340448. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898128 Free PMC article.

10

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.

Onuchic LF, Mrug M, Hou X, Eggermann T, Bergmann C, Zerres K, Avner ED, Furu L, Somlo S, Nagasawa Y, Germino GG, Guay-Woodford LM. Onuchic LF, et al. Am J Med Genet. 2002 Jul 15;110(4):346-52. doi: 10.1002/ajmg.10468. Am J Med Genet. 2002. PMID: 12116208

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