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Items: 18

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.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.

PMID:
23644449
2.

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.

Clin Genet. 2014 Jan;85(1):78-86. doi: 10.1111/cge.12090. Epub 2013 Mar 27.

PMID:
23350614
3.

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.

Elfferich P, Verleun-Mooijman MC, Maat-Kievit JA, van de Warrenburg BP, Abdo WF, Eshuis SA, Leenders KL, Hovestadt A, Zijlmans JC, Stroy JP, van Swieten JC, Boon AJ, van Engelen K, Verschuuren-Bemelmans CC, Lesnik-Oberstein SA, Tassorelli C, Lopiano L, Bonifati V, Dooijes D, van Minkelen R.

Neurogenetics. 2011 Nov;12(4):263-71. doi: 10.1007/s10048-011-0302-9. Epub 2011 Oct 13.

4.

Distinct genetic forms of frontotemporal dementia.

Seelaar H, Kamphorst W, Rosso SM, Azmani A, Masdjedi R, de Koning I, Maat-Kievit JA, Anar B, Donker Kaat L, Breedveld GJ, Dooijes D, Rozemuller JM, Bronner IF, Rizzu P, van Swieten JC.

Neurology. 2008 Oct 14;71(16):1220-6. doi: 10.1212/01.wnl.0000319702.37497.72. Epub 2008 Aug 13.

PMID:
18703462
5.

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

Brusse E, Maat-Kievit JA, van Swieten JC.

Clin Genet. 2007 Jan;71(1):12-24. Review.

PMID:
17204042
6.

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.

Neurology. 2005 Jul 12;65(1):87-95.

PMID:
16009891
7.

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.

J Med Genet. 2004 Nov;41(11):858-66. No abstract available.

8.

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, Maat-Kievit JA, Dooijes D, Notermans NC, Lindhout D, Knoers NV, Kremer HP.

Neurology. 2002 Mar 12;58(5):702-8.

PMID:
11889231
9.

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

Maat-Kievit JA, Losekoot M, Roos RA.

Ned Tijdschr Geneeskd. 2001 Nov 3;145(44):2120-3. Review. Dutch.

PMID:
11723754
10.

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.

J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):54-9.

11.

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.

J Med Genet. 1999 Mar;36(3):253-7.

12.

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.

Eur J Hum Genet. 1995;3(4):207-18.

PMID:
8528669
13.

A case with blepharophimosis resembling Ohdo syndrome.

Maat-Kievit JA, Milla PJ, Collins JE, Baraitser M, Winter RM.

Clin Dysmorphol. 1994 Apr;3(2):125-7.

PMID:
8055131
14.

Total situs inversus associated with the oculo-auriculo-vertebral spectrum.

Maat-Kievit JA, Baraitser M, Winter RM.

Clin Dysmorphol. 1994 Jan;3(1):82-6.

PMID:
8205328
15.

[Phenylketonuria in spite of screening].

Maaswinkel-Mooij PD, Kist-van Holthe tot Echten JE, Maat-Kievit JA.

Ned Tijdschr Geneeskd. 1993 Aug 21;137(34):1727-9. Dutch.

PMID:
7690466
16.

[Dysmaturity as symptom of the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome].

Porcelijn L, Maat-Kievit JA, van Haeringen A.

Tijdschr Kindergeneeskd. 1993 Jun;61(3):96-9. Dutch.

PMID:
8211943
17.

A large retinoblastoma detected in a fetus at 21 weeks of gestation.

Maat-Kievit JA, Oepkes D, Hartwig NG, Vermeij-Keers C, van Kamp IL, van de Kamp JJ.

Prenat Diagn. 1993 May;13(5):377-84.

PMID:
8341636
18.

Genetic heterogeneity in tuberous sclerosis.

Janssen LA, Sandkuyl LA, Merkens EC, Maat-Kievit JA, Sampson JR, Fleury P, Hennekam RC, Grosveld GC, Lindhout D, Halley DJ.

Genomics. 1990 Oct;8(2):237-42.

PMID:
1979047

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