Mumm S - Search Results

1

Whyte MP, Reinus WH, Mumm S. Whyte MP, et al. Among authors: mumm s. N Engl J Med. 2004 May 13;350(20):2096-9; author reply 2096-9. doi: 10.1056/NEJM200405133502017. N Engl J Med. 2004. PMID: 15141052 No abstract available.

2

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.

Mumm S, Whyte MP, Thakker RV, Buetow KH, Schlessinger D. Mumm S, et al. Am J Hum Genet. 1997 Jan;60(1):153-9. Am J Hum Genet. 1997. PMID: 8981958 Free PMC article.

3

Expression and cloning of the human X-linked hypophosphatemia gene cDNA.

Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D. Grieff M, et al. Among authors: mumm s. Biochem Biophys Res Commun. 1997 Feb 24;231(3):635-9. doi: 10.1006/bbrc.1997.6153. Biochem Biophys Res Commun. 1997. PMID: 9070861

4

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

Trump D, Dixon PH, Mumm S, Wooding C, Davies KE, Schlessinger D, Whyte MP, Thakker RV. Trump D, et al. Among authors: mumm s. J Med Genet. 1998 Nov;35(11):905-9. doi: 10.1136/jmg.35.11.905. J Med Genet. 1998. PMID: 9832036 Free PMC article.

5

Transcription map of Xq27: candidates for several X-linked diseases.

Zucchi I, Jones J, Affer M, Montagna C, Redolfi E, Susani L, Vezzoni P, Parvari R, Schlessinger D, Whyte MP, Mumm S. Zucchi I, et al. Among authors: mumm s. Genomics. 1999 Apr 15;57(2):209-18. doi: 10.1006/geno.1999.5768. Genomics. 1999. PMID: 10198160

6

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.

Mumm S, Christie PT, Finnegan P, Jones J, Dixon PH, Pannett AA, Harding B, Gottesman GS, Thakker RV, Whyte MP. Mumm S, et al. J Clin Endocrinol Metab. 2000 Sep;85(9):3343-7. doi: 10.1210/jcem.85.9.6840. J Clin Endocrinol Metab. 2000. PMID: 10999831 Clinical Trial.

7

Hypophosphatasia: molecular diagnosis of Rathbun's original case.

Mumm S, Jones J, Finnegan P, Whyte MP. Mumm S, et al. J Bone Miner Res. 2001 Sep;16(9):1724-7. doi: 10.1359/jbmr.2001.16.9.1724. J Bone Miner Res. 2001. PMID: 11547844 Free article.

8

The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.

Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP. Mumm S, et al. Gene. 2001 Aug 8;273(2):285-93. doi: 10.1016/s0378-1119(01)00571-6. Gene. 2001. PMID: 11595175

9

Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin.

Mumm S, Zhang X, Gottesman GS, McAlister WH, Whyte MP. Mumm S, et al. J Bone Miner Res. 2001 Dec;16(12):2245-50. doi: 10.1359/jbmr.2001.16.12.2245. J Bone Miner Res. 2001. PMID: 11760838 Free article.

10

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.

Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik MN, Whyte MP. Mumm S, et al. Mol Genet Metab. 2002 Feb;75(2):143-53. doi: 10.1006/mgme.2001.3283. Mol Genet Metab. 2002. PMID: 11855933

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