Eggermann T - Search Results

1

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.

Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schöneborn S. Eggermann T, et al. Eur J Hum Genet. 2005 Mar;13(3):309-13. doi: 10.1038/sj.ejhg.5201268. Eur J Hum Genet. 2005. PMID: 15586177

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

Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

Eggermann T, Eggermann K, Mergenthaler S, Kuner R, Kaiser P, Ranke MB, Wollmann HA. Eggermann T, et al. Among authors: eggermann k. J Med Genet. 1998 Sep;35(9):784-6. doi: 10.1136/jmg.35.9.784. J Med Genet. 1998. PMID: 9733042 Free PMC article.

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

Familial robertsonian translocation 15;21 and rare paracentric inv(21): unexpected re-inversion in a child with translocation trisomy 21.

Mau UA, Petruch UR, Kaiser P, Eggermann T. Mau UA, et al. Among authors: eggermann t. Eur J Hum Genet. 2000 Nov;8(11):815-9. doi: 10.1038/sj.ejhg.5200544. Eur J Hum Genet. 2000. PMID: 11093270

6

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).

Albrecht B, Mergenthaler S, Eggermann K, Zerres K, Passarge E, Eggermann T. Albrecht B, et al. Among authors: eggermann k, eggermann t. J Med Genet. 2001 Mar;38(3):214. doi: 10.1136/jmg.38.3.214. J Med Genet. 2001. PMID: 11303520 Free PMC article. No abstract available.

7

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S. Eggermann T, et al. Among authors: eggermann k. Ann Genet. 2001 Jan-Mar;44(1):41-5. doi: 10.1016/s0003-3995(01)01035-8. Ann Genet. 2001. PMID: 11334617 Review.

8

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

9

Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome.

Sharp A, Moore G, Eggermann T. Sharp A, et al. Among authors: eggermann t. Eur J Hum Genet. 2001 Dec;9(12):887-91. doi: 10.1038/sj.ejhg.5200740. Eur J Hum Genet. 2001. PMID: 11840189

10

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.

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