Losekoot M - Search Results

1

Copy number variants in patients with short stature.

van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM. van Duyvenvoorde HA, et al. Among authors: losekoot m. Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25. Eur J Hum Genet. 2014. PMID: 24065112 Free PMC article.

2

alpha-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations.

Harteveld KL, Losekoot M, Heister AJ, van der Wielen M, Giordano PC, Bernini LF. Harteveld KL, et al. Among authors: losekoot m. Hum Genet. 1997 Sep;100(3-4):465-71. doi: 10.1007/s004390050535. Hum Genet. 1997. PMID: 9272174

3

Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease.

Maat-Kievit A, Helderman-van den Enden P, Losekoot M, de Knijff P, Belfroid R, Vegter-van der Vlis M, Roos R, Breuning M. Maat-Kievit A, et al. Among authors: losekoot m. Am J Med Genet. 2001 Dec 8;105(8):737-44. doi: 10.1002/ajmg.1610. Am J Med Genet. 2001. PMID: 11803522

4

[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.

5

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

6

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.

Walenkamp MJ, de Muinck Keizer-Schrama SM, de Mos M, Kalf ME, van Duyvenvoorde HA, Boot AM, Kant SG, White SJ, Losekoot M, Den Dunnen JT, Karperien M, Wit JM. Walenkamp MJ, et al. Among authors: losekoot m. J Clin Endocrinol Metab. 2008 Jun;93(6):2421-5. doi: 10.1210/jc.2007-1789. Epub 2008 Mar 18. J Clin Endocrinol Metab. 2008. PMID: 18349070

7

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.

van Duyvenvoorde HA, Kempers MJ, Twickler TB, van Doorn J, Gerver WJ, Noordam C, Losekoot M, Karperien M, Wit JM, Hermus AR. van Duyvenvoorde HA, et al. Among authors: losekoot m. Eur J Endocrinol. 2008 Aug;159(2):113-20. doi: 10.1530/EJE-08-0081. Epub 2008 May 7. Eur J Endocrinol. 2008. PMID: 18463107

8

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.

9

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

10

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

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