Mumm S - Search Results

1

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.

Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE. Watts GD, et al. Among authors: mumm s. Hum Genet. 2005 Dec;118(3-4):508-14. doi: 10.1007/s00439-005-0075-z. Epub 2005 Oct 22. Hum Genet. 2005. PMID: 16244874

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

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

5

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.

6

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

7

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.

8

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.

9

Bisphosphonate-induced osteopetrosis.

Whyte MP, Wenkert D, Clements KL, McAlister WH, Mumm S. Whyte MP, et al. Among authors: mumm s. N Engl J Med. 2003 Jul 31;349(5):457-63. doi: 10.1056/NEJMoa023110. N Engl J Med. 2003. PMID: 12890844 Free article. No abstract available.

10

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Watts GD, et al. Among authors: mumm s. Nat Genet. 2004 Apr;36(4):377-81. doi: 10.1038/ng1332. Epub 2004 Mar 21. Nat Genet. 2004. PMID: 15034582 Free article.

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