Losekoot M - Search Results

1

[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].

Taschner PE, Losekoot M, Breuning MH, Hofman I, van Diggelen OP. Taschner PE, et al. Among authors: losekoot m. Ned Tijdschr Geneeskd. 2005 Feb 5;149(6):300-3. Ned Tijdschr Geneeskd. 2005. PMID: 15730038 Review. Dutch.

2

[Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients].

Losekoot M, Broekman AJ, Breuning MH, de Koning EJ, Romijn JA, Maassen JA. Losekoot M, et al. Ned Tijdschr Geneeskd. 2005 Jan 15;149(3):139-43. Ned Tijdschr Geneeskd. 2005. PMID: 15693590 Dutch.

3

[From gene to disease; PKHD1 and recessive polycystic kidney disease].

Peters DJ, Losekoot M, de Die-Smulders CE, Stevens-Baldewijns M, Breuning MH. Peters DJ, et al. Among authors: losekoot m. Ned Tijdschr Geneeskd. 2005 Feb 26;149(9):463-6. Ned Tijdschr Geneeskd. 2005. PMID: 15771341 Review. Dutch.

4

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ. Sun Y, et al. Among authors: losekoot m. Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23418007

5

[Maturity-onset diabetes of the young].

van der Tuin K, Hannema SE, Houdijk EC, Losekoot M, de Koning EJ, Breuning MH. van der Tuin K, et al. Among authors: losekoot m. Ned Tijdschr Geneeskd. 2015;159:A9247. Ned Tijdschr Geneeskd. 2015. PMID: 26374728 Review. Dutch.

6

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.

Kälviäinen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Järvelä I, Autti T, Vanninen R, Salmenperä T, van Diggelen OP. Kälviäinen R, et al. Among authors: losekoot m. Eur J Neurol. 2007 Apr;14(4):369-72. doi: 10.1111/j.1468-1331.2007.01668.x. Eur J Neurol. 2007. PMID: 17388982

7

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.

de Vries BB, Kleijer WJ, Keulemans JL, Voznyi YV, Franken PF, Eurlings MC, Galjaard RJ, Losekoot M, Catsman-Berrevoets CE, Breuning MH, Taschner PE, van Diggelen OP. de Vries BB, et al. Among authors: losekoot m. Prenat Diagn. 1999 Jun;19(6):559-62. Prenat Diagn. 1999. PMID: 10416973

8

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.

Kleijer WJ, van Diggelen OP, Keulemans JL, Losekoot M, Garritsen VH, Stroink H, Majoor-Krakauer D, Franken PF, Eurlings MC, Taschner PE, Los FJ, Galjaard RJ. Kleijer WJ, et al. Among authors: losekoot m. Prenat Diagn. 2001 Feb;21(2):99-101. doi: 10.1002/1097-0223(200102)21:2<99::aid-pd988>3.0.co;2-f. Prenat Diagn. 2001. PMID: 11241534

9

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, Taschner PE, Losekoot M, Voznyi YV. van Diggelen OP, et al. Among authors: losekoot m. Ann Neurol. 2001 Aug;50(2):269-72. doi: 10.1002/ana.1103. Ann Neurol. 2001. PMID: 11506414

10

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Visser R, Koelma N, Vijfhuizen L, van der Wielen MJ, Kant SG, Breuning MH, Wit JM, Losekoot M. Visser R, et al. Among authors: losekoot m. Am J Med Genet A. 2009 Feb 15;149A(4):806-8. doi: 10.1002/ajmg.a.32694. Am J Med Genet A. 2009. PMID: 19291764 No abstract available.

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