Heilbronner H[Author] - Search Results

Year	Number of Results
1978	1
1979	1
1980	1
1981	1
1982	1
1983	2
1984	2
1990	1
1991	1
1993	1
1994	1
1996	2
1999	1
2001	2
2003	1
2005	2
2006	1
2007	1
2024	0

1

Specific transcriptional changes in human fetuses with autosomal trisomies.

Altug-Teber O, Bonin M, Walter M, Mau-Holzmann UA, Dufke A, Stappert H, Tekesin I, Heilbronner H, Nieselt K, Riess O. Altug-Teber O, et al. Among authors: heilbronner h. Cytogenet Genome Res. 2007;119(3-4):171-84. doi: 10.1159/000112058. Epub 2008 Feb 1. Cytogenet Genome Res. 2007. PMID: 18253026

2

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.

Tzschach A, Hoeltzenbein M, Hoffmann K, Menzel C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kalscheuer V, Heilbronner H. Tzschach A, et al. Among authors: heilbronner h. Eur J Hum Genet. 2006 Dec;14(12):1317-20. doi: 10.1038/sj.ejhg.5201707. Epub 2006 Aug 23. Eur J Hum Genet. 2006. PMID: 16926859

3

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

Aulehla-Scholz C, Heilbronner H. Aulehla-Scholz C, et al. Among authors: heilbronner h. Hum Mutat. 2003 Apr;21(4):399-400. doi: 10.1002/humu.9116. Hum Mutat. 2003. PMID: 12655553

4

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG. Heinritz W, et al. Among authors: heilbronner h. Heart. 2005 Mar;91(3):383-4. doi: 10.1136/hrt.2004.036855. Heart. 2005. PMID: 15710732 Free PMC article. No abstract available.

5

Satellited Y chromosomes: structure, origin, and clinical significance.

Schmid M, Haaf T, Solleder E, Schempp W, Leipoldt M, Heilbronner H. Schmid M, et al. Among authors: heilbronner h. Hum Genet. 1984;67(1):72-85. doi: 10.1007/BF00270562. Hum Genet. 1984. PMID: 6745929

6

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. Yntema HG, et al. Among authors: heilbronner h. Genomics. 1999 Dec 15;62(3):332-43. doi: 10.1006/geno.1999.6004. Genomics. 1999. PMID: 10644430

7

Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs).

Kühl H, Röttger S, Heilbronner H, Enders H, Schempp W. Kühl H, et al. Among authors: heilbronner h. Chromosome Res. 2001;9(3):215-22. doi: 10.1023/a:1012219820317. Chromosome Res. 2001. PMID: 11330396

8

A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome.

Dezsö D, Orth U, Heilbronner H, Gal A. Dezsö D, et al. Among authors: heilbronner h. Hum Mutat. 1996;7(2):181-2. doi: 10.1002/(SICI)1098-1004(1996)7:2<181::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8829642 No abstract available.

9

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: heilbronner h. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461

10

Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.

Hospach T, Lohse P, Heilbronner H, Dannecker GE, Lohse P. Hospach T, et al. Among authors: heilbronner h. Arthritis Rheum. 2005 Nov;52(11):3606-10. doi: 10.1002/art.21381. Arthritis Rheum. 2005. PMID: 16255052 Free article.

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