Janssen EA - Search Results

1

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N. Hu LJ, et al. Among authors: janssen ea. Hum Mol Genet. 1996 Jan;5(1):139-43. doi: 10.1093/hmg/5.1.139. Hum Mol Genet. 1996. PMID: 8789451

2

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.

Janssen EA, Hensels GW, van Oost BA, Hamel BC, Kemp S, Baas F, Weber JW, Barth PG, Bolhuis PA. Janssen EA, et al. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):455-61. doi: 10.1016/0960-8966(94)90084-1. Neuromuscul Disord. 1994. PMID: 7881289

3

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. D'Adamo P, et al. Among authors: janssen ea. Am J Hum Genet. 1997 Oct;61(4):862-7. doi: 10.1086/514886. Am J Hum Genet. 1997. PMID: 9382096 Free PMC article.

4

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.

Hoogendijk JE, Hensels GW, Zorn I, Valentijn L, Janssen EA, de Visser M, Barker DF, Ongerboer de Visser BW, Baas F, Bolhuis PA. Hoogendijk JE, et al. Among authors: janssen ea. Hum Genet. 1991 Dec;88(2):215-8. doi: 10.1007/BF00206075. Hum Genet. 1991. PMID: 1721895

5

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA. Janssen EA, et al. Hum Genet. 1997 Apr;99(4):501-5. doi: 10.1007/s004390050396. Hum Genet. 1997. PMID: 9099841

6

De-novo mutation in hereditary motor and sensory neuropathy type I.

Hoogendijk JE, Hensels GW, Gabreëls-Festen AA, Gabreëls FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. Hoogendijk JE, et al. Among authors: janssen ea. Lancet. 1992 May 2;339(8801):1081-2. doi: 10.1016/0140-6736(92)90668-s. Lancet. 1992. PMID: 1349106

7

Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a.

Hensels GW, Janssen EA, Hoogendijk JE, Valentijn LJ, Baas F, Bolhuis PA. Hensels GW, et al. Among authors: janssen ea. Clin Chem. 1993 Sep;39(9):1845-9. Clin Chem. 1993. PMID: 8375058

8

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a).

Hoogendijk JE, Janssen EA, Gabreëls-Festen AA, Hensels GW, Joosten EM, Gabreëls FJ, Zorn I, Valentijn LJ, Baas F, Ongerboer de Visser BW, et al. Hoogendijk JE, et al. Among authors: janssen ea. Neurology. 1993 May;43(5):1010-5. doi: 10.1212/wnl.43.5.1010. Neurology. 1993. PMID: 8492918

9

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F. Barth PG, et al. Among authors: janssen ea. J Inherit Metab Dis. 1999 Jun;22(4):555-67. doi: 10.1023/a:1005568609936. J Inherit Metab Dis. 1999. PMID: 10407787 Review.

10

Prospective multicenter validation of the independent prognostic value of the mitotic activity index in lymph node-negative breast cancer patients younger than 55 years.

Baak JP, van Diest PJ, Voorhorst FJ, van der Wall E, Beex LV, Vermorken JB, Janssen EA. Baak JP, et al. Among authors: janssen ea. J Clin Oncol. 2005 Sep 1;23(25):5993-6001. doi: 10.1200/JCO.2005.05.511. J Clin Oncol. 2005. PMID: 16135467

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