Losekoot M - Search Results

1

Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP. Cnossen WR, et al. Among authors: losekoot m. Eur J Hum Genet. 2016 Feb;24(2):237-42. doi: 10.1038/ejhg.2015.86. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920554 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

[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.

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

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.

8

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

9

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.

Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ. Losekoot M, et al. J Med Genet. 2012 Jan;49(1):37-40. doi: 10.1136/jmedgenet-2011-100452. Epub 2011 Nov 23. J Med Genet. 2012. PMID: 22114106

10

Genetic analysis of short children with apparent growth hormone insensitivity.

Wit JM, van Duyvenvoorde HA, Scheltinga SA, de Bruin S, Hafkenscheid L, Kant SG, Ruivenkamp CA, Gijsbers AC, van Doorn J, Feigerlova E, Noordam C, Walenkamp MJ, Claahsen-van de Grinten H, Stouthart P, Bonapart IE, Pereira AM, Gosen J, Delemarre-van de Waal HA, Hwa V, Breuning MH, Domené HM, Oostdijk W, Losekoot M. Wit JM, et al. Among authors: losekoot m. Horm Res Paediatr. 2012;77(5):320-33. doi: 10.1159/000338462. Epub 2012 Jun 6. Horm Res Paediatr. 2012. PMID: 22678306

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

137 results

Search Page