Eggermann T - Search Results

1

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Büttner R, Zerres K. Bergmann C, et al. Among authors: eggermann t. Hum Mutat. 2004 May;23(5):453-63. doi: 10.1002/humu.20029. Hum Mutat. 2004. PMID: 15108277 Review.

2

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.

Zerres K, Mücher G, Bachner L, Deschennes G, Eggermann T, Kääriäinen H, Knapp M, Lennert T, Misselwitz J, von Mühlendahl KE, et al. Zerres K, et al. Among authors: eggermann t. Nat Genet. 1994 Jul;7(3):429-32. doi: 10.1038/ng0794-429. Nat Genet. 1994. PMID: 7920664

3

Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients.

Eggermann K, Wollmann HA, Tomiuk J, Ranke MB, Kaiser P, Eggermann T. Eggermann K, et al. Among authors: eggermann t. Hum Hered. 1999 Jun;49(3):123-8. doi: 10.1159/000022858. Hum Hered. 1999. PMID: 10364674

4

Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.

Albers A, Lahme S, Wagner C, Kaiser P, Zerres K, Capasso G, Pica A, Palacin M, Lang F, Bichler KH, Eggermann T. Albers A, et al. Among authors: eggermann t. Genet Test. 1999;3(2):227-31. doi: 10.1089/gte.1999.3.227. Genet Test. 1999. PMID: 10464673

5

Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the gamma 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.

Mergenthaler S, Blagitko-Dorfs N, Wollmann HA, Ranke MB, Ropers HH, Kalscheuer VM, Eggermann T. Mergenthaler S, et al. Among authors: eggermann t. Hum Mutat. 2000 Jul;16(1):96. doi: 10.1002/1098-1004(200007)16:1<96::AID-HUMU32>3.0.CO;2-V. Hum Mutat. 2000. PMID: 10874328 No abstract available.

6

Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene.

Kloos P, Mergenthaler S, Ranke MB, Wollmann HA, Eggermann T. Kloos P, et al. Among authors: eggermann t. Hum Mutat. 2000 Dec;16(6):533. doi: 10.1002/1098-1004(200012)16:6<533::AID-HUMU23>3.0.CO;2-2. Hum Mutat. 2000. PMID: 11102995 No abstract available.

7

DNA diagnosis in hereditary nephropathies.

Zerres K, Eggermann T, Rudnik-Schöneborn S. Zerres K, et al. Among authors: eggermann t. Clin Nephrol. 2001 Sep;56(3):181-92. Clin Nephrol. 2001. PMID: 11597032

8

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: eggermann t. 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.

9

[Molecular biology of cystinuria].

Albers A, Wagner CA, Schmidt C, Lahme S, Bichler KH, Lang F, Zerres K, Eggermann T. Albers A, et al. Among authors: eggermann t. Fortschr Med Orig. 2001;119(1):49-50. Fortschr Med Orig. 2001. PMID: 11935659 German.

10

Uniparental disomy: clinical indications for testing in growth retardation.

Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann HA. Eggermann T, et al. Among authors: eggermann k. Eur J Pediatr. 2002 Jun;161(6):305-12. doi: 10.1007/s00431-002-0916-x. Epub 2002 Apr 26. Eur J Pediatr. 2002. PMID: 12029448 Review.

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