Maat-Kievit JA - Search Results

1

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. van de Kamp JM, et al. Among authors: maat kievit ja. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. J Med Genet. 2013. PMID: 23644449

2

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities.

Helderman-van den Enden AT, Maaswinkel-Mooij PD, Hoogendoorn E, Willemsen R, Maat-Kievit JA, Losekoot M, Oostra BA. Helderman-van den Enden AT, et al. J Med Genet. 1999 Mar;36(3):253-7. J Med Genet. 1999. PMID: 10204857 Free PMC article.

3

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008.

van Rij MC, de Koning Gans PA, Aalfs CM, Elting M, Ippel PF, Maat-Kievit JA, Vermeer S, Verschuuren-Bemelmans CC, van Belzen MJ, Belfroid RD, Losekoot M, Geraedts JP, Roos RA, Tibben A, de Die-Smulders CE, Bijlsma EK. van Rij MC, et al. Among authors: maat kievit ja. Clin Genet. 2014 Jan;85(1):78-86. doi: 10.1111/cge.12090. Epub 2013 Mar 27. Clin Genet. 2014. PMID: 23350614

4

Diagnosis and management of early- and late-onset cerebellar ataxia.

Brusse E, Maat-Kievit JA, van Swieten JC. Brusse E, et al. Among authors: maat kievit ja. Clin Genet. 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x. Clin Genet. 2007. PMID: 17204042 Review.

5

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson Genetics Network. Bonifati V, et al. Among authors: maat kievit ja. Neurology. 2005 Jul 12;65(1):87-95. doi: 10.1212/01.wnl.0000167546.39375.82. Neurology. 2005. PMID: 16009891

6

Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.

van der Maarel SM, Scholten IH, Maat-Kievit JA, Huber I, de Kok YJ, de Wijs I, van de Pol TJ, van Bokhoven H, den Dunnen JT, van Ommen GJ, et al. van der Maarel SM, et al. Eur J Hum Genet. 1995;3(4):207-18. doi: 10.1159/000472301. Eur J Hum Genet. 1995. PMID: 8528669

7

Family history and DNA analysis in patients with suspected Huntington's disease.

Siesling S, Vegter-van de Vlis M, Losekoot M, Belfroid RD, Maat-Kievit JA, Kremer HP, Roos RA. Siesling S, et al. J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):54-9. doi: 10.1136/jnnp.69.1.54. J Neurol Neurosurg Psychiatry. 2000. PMID: 10864604 Free PMC article.

8

[Phenylketonuria in spite of screening].

Maaswinkel-Mooij PD, Kist-van Holthe tot Echten JE, Maat-Kievit JA. Maaswinkel-Mooij PD, et al. Ned Tijdschr Geneeskd. 1993 Aug 21;137(34):1727-9. Ned Tijdschr Geneeskd. 1993. PMID: 7690466 Dutch.

9

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.

Breedveld GJ, van Wetten B, te Raa GD, Brusse E, van Swieten JC, Oostra BA, Maat-Kievit JA. Breedveld GJ, et al. Among authors: maat kievit ja. J Med Genet. 2004 Nov;41(11):858-66. doi: 10.1136/jmg.2004.019232. J Med Genet. 2004. PMID: 15520412 Free PMC article. No abstract available.

10

[From gene to disease; HD gene and Huntington disease].

Maat-Kievit JA, Losekoot M, Roos RA. Maat-Kievit JA, et al. Ned Tijdschr Geneeskd. 2001 Nov 3;145(44):2120-3. Ned Tijdschr Geneeskd. 2001. PMID: 11723754 Review. Dutch.

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