Losekoot M - Search Results

1

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Among authors: losekoot m. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.

2

Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.

Deutz-Terlouw PP, Losekoot M, Olmer R, Pieneman WC, de Vries-v d Weerd S, Briët E, Bakker E. Deutz-Terlouw PP, et al. Among authors: losekoot m. J Med Genet. 1995 Apr;32(4):296-300. doi: 10.1136/jmg.32.4.296. J Med Genet. 1995. PMID: 7643361 Free PMC article.

3

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.

De Rooij KE, De Koning Gans PA, Skraastad MI, Belfroid RD, Vegter-Van Der Vlis M, Roos RA, Bakker E, Van Ommen GJ, Den Dunnen JT, Losekoot M. De Rooij KE, et al. Among authors: losekoot m. J Med Genet. 1993 Dec;30(12):996-1002. doi: 10.1136/jmg.30.12.996. J Med Genet. 1993. PMID: 8133511 Free PMC article.

4

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Losekoot M, Hoogendoorn E, Olmer R, Jansen CC, Oosterwijk JC, van den Ouweland AM, Halley DJ, Warren ST, Willemsen R, Oostra BA, Bakker E. Losekoot M, et al. J Med Genet. 1997 Nov;34(11):924-6. doi: 10.1136/jmg.34.11.924. J Med Genet. 1997. PMID: 9391887 Free PMC article.

5

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. Among authors: losekoot m. J Med Genet. 1999 Mar;36(3):253-7. J Med Genet. 1999. PMID: 10204857 Free PMC article.

6

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJ. Losekoot M, et al. Hum Genet. 2005 Nov;118(2):185-206. doi: 10.1007/s00439-005-0027-7. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16133180

7

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M. Ester WA, et al. Among authors: losekoot m. J Clin Endocrinol Metab. 2009 Dec;94(12):4717-27. doi: 10.1210/jc.2008-1502. Epub 2009 Oct 28. J Clin Endocrinol Metab. 2009. PMID: 19864454

8

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.

van Duyvenvoorde HA, van Setten PA, Walenkamp MJ, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Ruivenkamp CA, Losekoot M, Wade JD, De Meyts P, Karperien M, Noordam C, Wit JM. van Duyvenvoorde HA, et al. Among authors: losekoot m. J Clin Endocrinol Metab. 2010 Nov;95(11):E363-7. doi: 10.1210/jc.2010-0511. Epub 2010 Jul 28. J Clin Endocrinol Metab. 2010. PMID: 20668042

9

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

Kant SG, van der Kamp HJ, Kriek M, Bakker E, Bakker B, Hoffer MJ, van Bunderen P, Losekoot M, Maas SM, Wit JM, Rappold G, Breuning MH. Kant SG, et al. Among authors: losekoot m. J Clin Endocrinol Metab. 2011 Feb;96(2):E356-9. doi: 10.1210/jc.2010-1505. Epub 2010 Nov 10. J Clin Endocrinol Metab. 2011. PMID: 21068148

10

The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein.

van Duyvenvoorde HA, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Wade JD, Karperien M, Ruivenkamp CA, Losekoot M, van Setten PA, Walenkamp MJ, Noordam C, De Meyts P, Wit JM. van Duyvenvoorde HA, et al. Among authors: losekoot m. Growth Horm IGF Res. 2011 Feb;21(1):44-50. doi: 10.1016/j.ghir.2010.12.004. Epub 2011 Jan 14. Growth Horm IGF Res. 2011. PMID: 21237682

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