Spranger M - Search Results

1

Anomalous inheritance in a kindred with split hand, split foot malformation.

Spranger M, Schapera J. Spranger M, et al. Eur J Pediatr. 1988 Feb;147(2):202-5. doi: 10.1007/BF00442225. Eur J Pediatr. 1988. PMID: 3366140

2

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.

3

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.

4

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

5

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis.

Spranger M, Spranger S, Schwab S, Benninger C, Dichgans M. Spranger M, et al. Among authors: spranger s. Eur Neurol. 1999;41(3):150-2. doi: 10.1159/000008039. Eur Neurol. 1999. PMID: 10202246

6

Ehlers-Danlos syndrome type VIII and leukodystrophy.

Spranger S, Spranger M, Kirchhof K, Steinmann B. Spranger S, et al. Among authors: spranger m. Am J Med Genet. 1996 Dec 11;66(2):239-40. doi: 10.1002/(SICI)1096-8628(19961211)66:2<239::AID-AJMG23>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8958339 No abstract available.

7

Barraquer-Simons syndrome (with sensorineural deafness): a contribution to the differential diagnosis of lipodystrophy syndromes.

Spranger S, Spranger M, Tasman AJ, Reith W, Voigtländer T, Voigtländer V. Spranger S, et al. Among authors: spranger m. Am J Med Genet. 1997 Sep 5;71(4):397-400. doi: 10.1002/(sici)1096-8628(19970905)71:4<397::aid-ajmg5>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9286444

8

Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?

Spranger M, Spranger S, Ziegan J, Lössner J, Meinck HM. Spranger M, et al. Among authors: spranger s. Clin Genet. 1996 Oct;50(4):229-31. doi: 10.1111/j.1399-0004.1996.tb02632.x. Clin Genet. 1996. PMID: 9001805

9

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.

Zühlke CH, Spranger M, Spranger S, Voigt R, Lanz M, Gehlken U, Hinrichs F, Schwinger E. Zühlke CH, et al. Among authors: spranger s, spranger m. Eur J Hum Genet. 2003 Aug;11(8):629-32. doi: 10.1038/sj.ejhg.5201018. Eur J Hum Genet. 2003. PMID: 12891385

10

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B. Strothotte S, et al. Among authors: spranger m. J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1. J Neurol. 2010. PMID: 19649685 Clinical Trial.

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