Avner ED - Search Results

1

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.

Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, Shneider BL, Torres VE, Wilson P, Zak C, Zhou J, Gahl WA. Gunay-Aygun M, et al. Among authors: avner ed. J Pediatr. 2006 Aug;149(2):159-64. doi: 10.1016/j.jpeds.2006.03.014. J Pediatr. 2006. PMID: 16887426 Free PMC article.

2

Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease.

Nakanishi K, Sweeney WE Jr, Zerres K, Guay-Woodford LM, Avner ED. Nakanishi K, et al. Among authors: avner ed. J Am Soc Nephrol. 2000 Apr;11(4):760-763. doi: 10.1681/ASN.V114760. J Am Soc Nephrol. 2000. PMID: 10752536

3

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. Among authors: avner ed. Eur J Hum Genet. 2000 Mar;8(3):163-6. doi: 10.1038/sj.ejhg.5200426. Eur J Hum Genet. 2000. PMID: 10780780

4

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. Among authors: avner ed. Am J Med Genet. 2002 Jul 15;110(4):346-52. doi: 10.1002/ajmg.10468. Am J Med Genet. 2002. PMID: 12116208

5

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S. Furu L, et al. J Am Soc Nephrol. 2003 Aug;14(8):2004-14. doi: 10.1097/01.asn.0000078805.87038.05. J Am Soc Nephrol. 2003. PMID: 12874454

6

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. Among authors: avner ed. 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.

7

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. Among authors: avner ed. Am J Med Genet. 1998 Mar 5;76(2):137-44. Am J Med Genet. 1998. PMID: 9511976

8

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.

Consugar MB, Anderson SA, Rossetti S, Pankratz VS, Ward CJ, Torra R, Coto E, El-Youssef M, Kantarci S, Utsch B, Hildebrandt F, Sweeney WE, Avner ED, Torres VE, Cunningham JM, Harris PC. Consugar MB, et al. Among authors: avner ed. Am J Kidney Dis. 2005 Jan;45(1):77-87. doi: 10.1053/j.ajkd.2004.09.009. Am J Kidney Dis. 2005. PMID: 15696446

9

The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.

Guay-Woodford LM, Muecher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W, et al. Guay-Woodford LM, et al. Among authors: avner ed. Am J Hum Genet. 1995 May;56(5):1101-7. Am J Hum Genet. 1995. PMID: 7726165 Free PMC article.

10

Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats.

Torres VE, Sweeney WE Jr, Wang X, Qian Q, Harris PC, Frost P, Avner ED. Torres VE, et al. Among authors: avner ed. Kidney Int. 2004 Nov;66(5):1766-73. doi: 10.1111/j.1523-1755.2004.00952.x. Kidney Int. 2004. PMID: 15496147 Free article.

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