Hellebrand H - Search Results

1

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC. Tischfield MA, et al. Among authors: hellebrand h. Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011. Cell. 2010. PMID: 20074521 Free PMC article.

2

KIF21A variant R954W in familial or sporadic cases of CFEOM1.

Rudolph G, Nentwich M, Hellebrand H, Pollack K, Gordes R, Bau V, Kampik A, Meindl A. Rudolph G, et al. Among authors: hellebrand h. Eur J Ophthalmol. 2009 Jul-Aug;19(4):667-74. doi: 10.1177/112067210901900423. Eur J Ophthalmol. 2009. PMID: 19551685

3

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.

Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A. Golla A, et al. Among authors: hellebrand h. Eur J Hum Genet. 2002 Mar;10(3):217-21. doi: 10.1038/sj.ejhg.5200789. Eur J Hum Genet. 2002. PMID: 11973628

4

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

Meindl A, Lorenz B, Achatz H, Hellebrand H, Schmitz-Valckenberg P, Meitinger T. Meindl A, et al. Among authors: hellebrand h. Hum Mol Genet. 1995 Mar;4(3):489-90. doi: 10.1093/hmg/4.3.489. Hum Mol Genet. 1995. PMID: 7795608 No abstract available.

5

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

Meindl A, Berger W, Meitinger T, van de Pol D, Achatz H, Dörner C, Haasemann M, Hellebrand H, Gal A, Cremers F, et al. Meindl A, et al. Among authors: hellebrand h. Nat Genet. 1992 Oct;2(2):139-43. doi: 10.1038/ng1092-139. Nat Genet. 1992. PMID: 1303264

6

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.

Schindelhauer D, Hellebrand H, Grimm L, Bader I, Meitinger T, Wehnert M, Ross M, Meindl A. Schindelhauer D, et al. Among authors: hellebrand h. Genome Res. 1996 Nov;6(11):1056-69. doi: 10.1101/gr.6.11.1056. Genome Res. 1996. PMID: 8938429 Free article.

7

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Grill S, Ramser J, Hellebrand H, Pfarr N, Boxberg M, Brambs C, Ditsch N, Meindl A, Groß E, Meitinger T, Kiechle M, Quante AS. Grill S, et al. Among authors: hellebrand h. Arch Gynecol Obstet. 2021 Jun;303(6):1557-1567. doi: 10.1007/s00404-020-05883-x. Epub 2020 Nov 27. Arch Gynecol Obstet. 2021. PMID: 33245408 Free PMC article.

8

Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases.

Hügle B, Suchowerskyj P, Hellebrand H, Adler B, Borte M, Sack U, Overberg-Schmidt US, Strnad N, Otto J, Meindl A, Schuster V. Hügle B, et al. Among authors: hellebrand h. J Clin Immunol. 2004 Sep;24(5):515-22. doi: 10.1023/B:JOCI.0000040922.26286.36. J Clin Immunol. 2004. PMID: 15359110

9

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.

Klink A, Meindl A, Hellebrand H, Rappold GA. Klink A, et al. Among authors: hellebrand h. Hum Genet. 1994 Apr;93(4):463-6. doi: 10.1007/BF00201677. Hum Genet. 1994. PMID: 8168818

10

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

Hellebrand H, Sutter C, Honisch E, Gross E, Wappenschmidt B, Schem C, Deissler H, Ditsch N, Gress V, Kiechle M, Bartram CR, Schmutzler RK, Niederacher D, Arnold N, Meindl A. Hellebrand H, et al. Hum Mutat. 2011 Jun;32(6):E2176-88. doi: 10.1002/humu.21478. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21618343

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