Vanmolkot KR - Search Results

1

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.

Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, Dötsch V, Brunner HG, van Bokhoven H. Duijf PH, et al. Among authors: vanmolkot kr. Hum Mol Genet. 2002 Apr 1;11(7):799-804. doi: 10.1093/hmg/11.7.799. Hum Mol Genet. 2002. PMID: 11929852

2

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. McGrath JA, et al. Among authors: vanmolkot kr. Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. Hum Mol Genet. 2001. PMID: 11159940

3

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: vanmolkot kr. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.

4

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.

Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KRJ, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AMJM. Castro MJ, et al. Among authors: vanmolkot krj. J Hum Genet. 2007;52(12):990-998. doi: 10.1007/s10038-007-0205-7. Epub 2007 Oct 19. J Hum Genet. 2007. PMID: 17952365

5

Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

van den Maagdenberg AM, Kors EE, Brunt ER, van Paesschen W, Pascual J, Ravine D, Keeling S, Vanmolkot KR, Vermeulen FL, Terwindt GM, Haan J, Frants RR, Ferrari MD. van den Maagdenberg AM, et al. Among authors: vanmolkot kr. J Neurol. 2002 Nov;249(11):1515-9. doi: 10.1007/s00415-002-0860-8. J Neurol. 2002. PMID: 12420090

6

First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.

Vanmolkot KR, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH, van Vark J, van den Heuvel JJ, Bajaj N, Terwindt GM, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM. Vanmolkot KR, et al. Eur J Hum Genet. 2007 Aug;15(8):884-8. doi: 10.1038/sj.ejhg.5201841. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473835

7

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online.

Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M. Vanmolkot KR, et al. Hum Mutat. 2007 May;28(5):522. doi: 10.1002/humu.9486. Hum Mutat. 2007. PMID: 17397047

8

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, van den Maagdenberg AM. Vanmolkot KR, et al. Eur J Hum Genet. 2006 May;14(5):555-60. doi: 10.1038/sj.ejhg.5201607. Eur J Hum Genet. 2006. PMID: 16538223

9

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

Stam AH, Vanmolkot KR, Kremer HP, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM, Terwindt GM. Stam AH, et al. Among authors: vanmolkot kr. Clin Genet. 2008 Nov;74(5):481-5. doi: 10.1111/j.1399-0004.2008.00996.x. Epub 2008 Apr 8. Clin Genet. 2008. PMID: 18400034

10

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.

Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM. Vanmolkot KR, et al. Ann Neurol. 2003 Sep;54(3):360-6. doi: 10.1002/ana.10674. Ann Neurol. 2003. PMID: 12953268

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