Schwartz M - Search Results

1

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

Kjaergaard S, Skovby F, Schwartz M. Kjaergaard S, et al. Among authors: schwartz m. Eur J Hum Genet. 1999 Dec;7(8):884-8. doi: 10.1038/sj.ejhg.5200398. Eur J Hum Genet. 1999. PMID: 10602363

2

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Dunø M, Hove H, Kirchhoff M, Devriendt K, Schwartz M. Dunø M, et al. Among authors: schwartz m. Hum Genet. 2004 Nov;115(6):459-67. doi: 10.1007/s00439-004-1174-y. Epub 2004 Sep 18. Hum Genet. 2004. PMID: 15378350

3

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP. Maugeri A, et al. Among authors: schwartz m. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624

4

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH. Westphal V, et al. Among authors: schwartz m. Hum Mol Genet. 2002 Mar 1;11(5):599-604. doi: 10.1093/hmg/11.5.599. Hum Mol Genet. 2002. PMID: 11875054

5

High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.

Duno M, Quinlivan R, Vissing J, Schwartz M. Duno M, et al. Among authors: schwartz m. Ann Hum Genet. 2009 May;73(Pt 3):292-7. doi: 10.1111/j.1469-1809.2009.00512.x. Ann Hum Genet. 2009. PMID: 19472443

6

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.

Knudsen GP, Neilson TC, Pedersen J, Kerr A, Schwartz M, Hulten M, Bailey ME, Orstavik KH. Knudsen GP, et al. Among authors: schwartz m. Eur J Hum Genet. 2006 Nov;14(11):1189-94. doi: 10.1038/sj.ejhg.5201682. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823396

7

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.

Duno M, Sveen ML, Schwartz M, Vissing J. Duno M, et al. Among authors: schwartz m. Eur J Hum Genet. 2008 Aug;16(8):935-40. doi: 10.1038/ejhg.2008.47. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337726

8

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M, Scheffer H. Kamsteeg EJ, et al. Among authors: schwartz m. Eur J Hum Genet. 2012 Dec;20(12):1203-8. doi: 10.1038/ejhg.2012.108. Epub 2012 May 30. Eur J Hum Genet. 2012. PMID: 22643181 Free PMC article.

9

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Dequeker E, et al. Among authors: schwartz m. Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685558 Free PMC article.

10

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA).

Gerdes T, Kirchhoff M, Lind AM, Larsen GV, Schwartz M, Lundsteen C. Gerdes T, et al. Among authors: schwartz m. Eur J Hum Genet. 2005 Feb;13(2):171-5. doi: 10.1038/sj.ejhg.5201307. Eur J Hum Genet. 2005. PMID: 15483643

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results