van Meegen M - Search Results

1

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Muchir A, et al. Among authors: van der kooi aj, van meegen m. Hum Mol Genet. 2000 May 22;9(9):1453-9. doi: 10.1093/hmg/9.9.1453. Hum Mol Genet. 2000. PMID: 10814726

2

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. van der Kooi AJ, et al. Among authors: van meegen m. Am J Hum Genet. 1997 Apr;60(4):891-5. Am J Hum Genet. 1997. PMID: 9106535 Free PMC article.

3

A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.

van der Kooi AJ, de Visser M, van Meegen M, Ginjaar HB, van Essen AJ, Jennekens FG, Jongen PJ, Leschot NJ, Bolhuis PA. van der Kooi AJ, et al. Among authors: van essen aj, van meegen m. Neuromuscul Disord. 1998 Jun;8(5):305-8. doi: 10.1016/s0960-8966(98)00040-6. Neuromuscul Disord. 1998. PMID: 9673983

4

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.

Ginjaar HB, van der Kooi AJ, Ceelie H, Kneppers AL, van Meegen M, Barth PG, Busch HF, Wokke JH, Anderson LV, Bönnemann CG, Jeanpierre M, Bolhuis PA, Moorman AF, de Visser M, Bakker E, Ommen GJ. Ginjaar HB, et al. Among authors: van meegen m. J Neurol. 2000 Jul;247(7):524-9. doi: 10.1007/s004150070151. J Neurol. 2000. PMID: 10993494

5

[Clinical algorithm for cerebrospinal fluid test of 14-3-3 protein in diagnosis of Creutzfeldt-Jacob disease].

Lemstra AW, van Meegen M, Baas F, van Gool WA. Lemstra AW, et al. Among authors: van meegen m. Ned Tijdschr Geneeskd. 2001 Jul 28;145(30):1467-71. Ned Tijdschr Geneeskd. 2001. PMID: 11503317 Dutch.

6

14-3-3 testing in diagnosing Creutzfeldt-Jakob disease: a prospective study in 112 patients.

Lemstra AW, van Meegen MT, Vreyling JP, Meijerink PH, Jansen GH, Bulk S, Baas F, van Gool WA. Lemstra AW, et al. Among authors: van meegen mt, van gool wa. Neurology. 2000 Aug 22;55(4):514-6. doi: 10.1212/wnl.55.4.514. Neurology. 2000. PMID: 10953182 Clinical Trial.

7

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. Eggens VR, et al. Among authors: van meegen mt. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.

8

Incomplete functional deficiencies of the fourth (C4) and second (C2) components of complement in a patient with linear frontoparietal scleroderma and his family. Deficiencies determined by a gene not linked to human leukocyte antigen system.

Venneker GT, van Meegen M, de Kok-Nazaruk M, Hulsmans RF, de Waall LP, Bos JD, Asghar SS. Venneker GT, et al. Among authors: van meegen m. Exp Clin Immunogenet. 1996;13(2):104-11. Exp Clin Immunogenet. 1996. PMID: 9063702

9

Hereditary deficiency of C5 in association with discoid lupus erythematosus.

Asghar SS, Venneker GT, van Meegen M, Meinardi MM, Hulsmans RF, de Waal LP. Asghar SS, et al. Among authors: van meegen m. J Am Acad Dermatol. 1991 Feb;24(2 Pt 2):376-8. doi: 10.1016/0190-9622(91)70056-8. J Am Acad Dermatol. 1991. PMID: 1999552

10

Molecular heterogeneity of second and fourth components of complement and their genes in systemic sclerosis and association of HLA alleles A1, B8 and DR3 with limited and DR5 with diffuse systemic sclerosis.

Venneker GT, van den Hoogen FH, van Meegen M, de Kok-Nazaruk M, Hulsmans RF, Boerbooms AM, de Waal LP, Bos JD, Asghar SS. Venneker GT, et al. Among authors: van den hoogen fh, van meegen m. Exp Clin Immunogenet. 1998;15(2):90-9. doi: 10.1159/000019059. Exp Clin Immunogenet. 1998. PMID: 9691203

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