Spranger S - Search Results

1

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Among authors: spranger s. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184

2

Symptomatic heterozygosity in the Ellis-van Creveld syndrome?

Spranger S, Tariverdian G. Spranger S, et al. Clin Genet. 1995 Apr;47(4):217-20. doi: 10.1111/j.1399-0004.1995.tb03963.x. Clin Genet. 1995. PMID: 7628126

3

Two sisters with Escobar syndrome.

Spranger S, Spranger M, Meinck HM, Tariverdian G. Spranger S, et al. Among authors: spranger m. Am J Med Genet. 1995 Jul 3;57(3):425-8. doi: 10.1002/ajmg.1320570312. Am J Med Genet. 1995. PMID: 7677145

4

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

Spranger S, Rudnik-Schöneborn S, Spranger M, Schächtele M, Zerres K, Wirth B. Spranger S, et al. Among authors: spranger m. J Med Genet. 1997 Apr;34(4):340-2. doi: 10.1136/jmg.34.4.340. J Med Genet. 1997. PMID: 9138162 Free PMC article.

5

Muscular involvement in the Holt-Oram syndrome.

Spranger S, Ulmer H, Tröger J, Jansen O, Graf J, Meinck HM, Spranger M. Spranger S, et al. Among authors: spranger m. J Med Genet. 1997 Dec;34(12):978-81. doi: 10.1136/jmg.34.12.978. J Med Genet. 1997. PMID: 9429137 Free PMC article.

6

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM. Wagenstaller J, et al. Among authors: spranger s. Am J Hum Genet. 2007 Oct;81(4):768-79. doi: 10.1086/521274. Epub 2007 Aug 28. Am J Hum Genet. 2007. PMID: 17847001 Free PMC article.

7

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB. Ahting U, et al. Among authors: spranger s. Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015. Front Genet. 2015. PMID: 25918518 Free PMC article.

8

Bilateral radial deficiency with lower limb involvement.

Spranger S, Weber M, Tröger J, Tariverdian G, Opitz JM. Spranger S, et al. Am J Med Genet. 1996 May 3;63(1):193-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<193::AID-AJMG34>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8723109

9

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height.

Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold GA. Spranger S, et al. Clin Genet. 1997 May;51(5):346-50. doi: 10.1111/j.1399-0004.1997.tb02486.x. Clin Genet. 1997. PMID: 9212185

10

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

Spranger S, Schiller S, Jauch A, Wolff K, Rauterberg-Ruland I, Hager D, Tariverdian G, Tröger J, Rappold G. Spranger S, et al. Am J Med Genet. 1999 Apr 23;83(5):367-71. doi: 10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10232745

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