Defesche JC - Search Results

1

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.

Wijker M, Ligtenberg MJ, Schoute F, Defesche JC, Pals G, Bolhuis PA, Ropers HH, Hulsebos TJ, Menko FH, van Oost BA, et al. Wijker M, et al. Among authors: defesche jc. Am J Hum Genet. 1995 May;56(5):1096-100. Am J Hum Genet. 1995. PMID: 7726164 Free PMC article.

2

An unusual variant of Becker muscular dystrophy.

de Visser M, Bakker E, Defesche JC, Bolhuis PA, van Ommen GJ. de Visser M, et al. Among authors: defesche jc. Ann Neurol. 1990 May;27(5):578-81. doi: 10.1002/ana.410270521. Ann Neurol. 1990. PMID: 2193611

3

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.

Defesche JC, Hoogendijk JE, de Visser M, de Visser O, Bolhuis PA. Defesche JC, et al. Neurology. 1990 Sep;40(9):1450-3. doi: 10.1212/wnl.40.9.1450. Neurology. 1990. PMID: 2392234

4

DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases.

Defesche JC, de Vissar M, Bakker E, Bouwsma G, de Vijlder JJ, Bolhuis PA. Defesche JC, et al. Hum Genet. 1989 Apr;82(1):55-8. doi: 10.1007/BF00288272. Hum Genet. 1989. PMID: 2565867

5

Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms.

Bolhuis PA, Defesche JC, van der Helm HJ. Bolhuis PA, et al. Among authors: defesche jc. Clin Chim Acta. 1987 Jun 15;165(2-3):271-6. doi: 10.1016/0009-8981(87)90171-9. Clin Chim Acta. 1987. PMID: 2888546

6

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.

Defesche JC, van Diermen DE, Lansberg PJ, Lamping RJ, Reymer PW, Hayden MR, Kastelein JJ. Defesche JC, et al. Hum Genet. 1993 Dec;92(6):567-70. doi: 10.1007/BF00420940. Hum Genet. 1993. PMID: 7903269

7

Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada.

Defesche JC, van de Ree MA, Kastelein JJ, van Diermen DE, Janssens NW, van Doormaal JJ, Hayden MR. Defesche JC, et al. Clin Genet. 1992 Dec;42(6):273-80. Clin Genet. 1992. PMID: 1493640

8

A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia.

Lombardi P, Defesche JC, Kamerling SW, Kastelein JJ, Havekes LM. Lombardi P, et al. Among authors: defesche jc. Clin Genet. 1997 Apr;51(4):286-7. doi: 10.1111/j.1399-0004.1997.tb02473.x. Clin Genet. 1997. PMID: 9184256 No abstract available.

9

The molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP. Fouchier SW, et al. Among authors: defesche jc. Hum Genet. 2001 Dec;109(6):602-15. doi: 10.1007/s00439-001-0628-8. Epub 2001 Nov 9. Hum Genet. 2001. PMID: 11810272

10

High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.

Fouchier SW, Sankatsing RR, Peter J, Castillo S, Pocovi M, Alonso R, Kastelein JJ, Defesche JC. Fouchier SW, et al. Among authors: defesche jc. J Med Genet. 2005 Apr;42(4):e23. doi: 10.1136/jmg.2004.029454. J Med Genet. 2005. PMID: 15805152 Free PMC article.

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