Mumm S - Search Results

1

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Stevenson DA, Carey JC, Coburn SP, Ericson KL, Byrne JL, Mumm S, Whyte MP. Stevenson DA, et al. Among authors: mumm s. J Clin Endocrinol Metab. 2008 Sep;93(9):3443-8. doi: 10.1210/jc.2008-0318. Epub 2008 Jun 17. J Clin Endocrinol Metab. 2008. PMID: 18559907 Free PMC article.

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

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.

4

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.

5

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.

6

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

7

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.

8

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

9

Osteoprotegerin deficiency and juvenile Paget's disease.

Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S. Whyte MP, et al. Among authors: mumm s. N Engl J Med. 2002 Jul 18;347(3):175-84. doi: 10.1056/NEJMoa013096. N Engl J Med. 2002. PMID: 12124406 Free article.

10

Marrow cell transplantation for infantile hypophosphatasia.

Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL. Whyte MP, et al. Among authors: mumm s. J Bone Miner Res. 2003 Apr;18(4):624-36. doi: 10.1359/jbmr.2003.18.4.624. J Bone Miner Res. 2003. PMID: 12674323 Free article.

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