Hertz JM - Search Results

1

Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain.

Persson U, Hertz JM, Carlsson M, Hellmark T, Juncker I, Wieslander J, Segelmark M. Persson U, et al. Among authors: hertz jm. Nephrol Dial Transplant. 2004 Aug;19(8):2030-5. doi: 10.1093/ndt/gfh355. Epub 2004 Jun 15. Nephrol Dial Transplant. 2004. PMID: 15199166

2

Alport syndrome in southern Sweden.

Persson U, Hertz JM, Wieslander J, Segelmark M. Persson U, et al. Among authors: hertz jm. Clin Nephrol. 2005 Aug;64(2):85-90. doi: 10.5414/cnp64085. Clin Nephrol. 2005. PMID: 16114783

3

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: hertz jm. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649. J Am Soc Nephrol. 2000. PMID: 10752524

4

Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

Hertz JM, Persson U, Juncker I, Segelmark M. Hertz JM, et al. Hum Genet. 2005 Oct;118(1):23-8. doi: 10.1007/s00439-005-0013-0. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16133187

5

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Hertz JM, Juncker I, Marcussen N. Hertz JM, et al. Clin Genet. 2008 Dec;74(6):522-30. doi: 10.1111/j.1399-0004.2008.01051.x. Epub 2008 Jun 26. Clin Genet. 2008. PMID: 18616531

6

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N. Hertz JM, et al. Hum Mutat. 2001 Aug;18(2):141-8. doi: 10.1002/humu.1163. Hum Mutat. 2001. PMID: 11462238 Free article.

7

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: hertz jm. J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74. J Am Soc Nephrol. 2003. PMID: 14514738

8

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.

Hertz JM, Ostergaard K, Juncker I, Pedersen S, Romstad A, Møller LB, Güttler F, Dupont E. Hertz JM, et al. Eur J Neurol. 2006 Apr;13(4):385-90. doi: 10.1111/j.1468-1331.2006.01249.x. Eur J Neurol. 2006. PMID: 16643317

9

Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.

Haubek D, Gjørup H, Jensen LG, Juncker I, Nyegaard M, Børglum AD, Poulsen S, Hertz JM. Haubek D, et al. Among authors: hertz jm. Int J Paediatr Dent. 2011 Nov;21(6):407-12. doi: 10.1111/j.1365-263X.2011.01142.x. Epub 2011 Jun 27. Int J Paediatr Dent. 2011. PMID: 21702852

10

A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.

Hertz JM, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N. Hertz JM, et al. Clin Genet. 1998 Mar;53(3):205-9. doi: 10.1111/j.1399-0004.1998.tb02678.x. Clin Genet. 1998. PMID: 9630076

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