Petrij F - Search Results

1

Response to desmopressin is strongly dependent on F8 gene mutation type in mild and moderate haemophilia A.

Stoof SC, Sanders YV, Petrij F, Cnossen MH, de Maat MP, Leebeek FW, Kruip MJ. Stoof SC, et al. Among authors: petrij f. Thromb Haemost. 2013 Mar;109(3):440-9. doi: 10.1160/TH12-06-0383. Epub 2013 Jan 24. Thromb Haemost. 2013. PMID: 23348756

2

Nephrocalcinosis as adult presentation of Bartter syndrome type II.

Huang L, Luiken GP, van Riemsdijk IC, Petrij F, Zandbergen AA, Dees A. Huang L, et al. Among authors: petrij f. Neth J Med. 2014 Feb;72(2):91-3. Neth J Med. 2014. PMID: 24659592 Free article.

3

A second acromelanistic allelomorph at the albino locus of the Mongolian gerbil (Meriones unguiculatus).

Petrij F, van Veen K, Mettler M, Brückmann V. Petrij F, et al. J Hered. 2001 Jan-Feb;92(1):74-8. doi: 10.1093/jhered/92.1.74. J Hered. 2001. PMID: 11336233

4

Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).

Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RC, Breuning MH, Peters DJ. Petrij F, et al. Am J Med Genet. 2000 May 1;92(1):47-52. doi: 10.1002/(sici)1096-8628(20000501)92:1<47::aid-ajmg8>3.0.co;2-h. Am J Med Genet. 2000. PMID: 10797422

5

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.

Giles RH, Petrij F, Dauwerse HG, den Hollander AI, Lushnikova T, van Ommen GJ, Goodman RH, Deaven LL, Doggett NA, Peters DJ, Breuning MH. Giles RH, et al. Among authors: petrij f. Genomics. 1997 May 15;42(1):96-114. doi: 10.1006/geno.1997.4699. Genomics. 1997. PMID: 9177780

6

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al. Petrij F, et al. Nature. 1995 Jul 27;376(6538):348-51. doi: 10.1038/376348a0. Nature. 1995. PMID: 7630403

7

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.

Masuno M, Imaizumi K, Kurosawa K, Makita Y, Petrij F, Dauwerse HG, Breuning MH, Kuroki Y. Masuno M, et al. Among authors: petrij f. Am J Med Genet. 1994 Dec 1;53(4):352-4. doi: 10.1002/ajmg.1320530409. Am J Med Genet. 1994. PMID: 7864045

8

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

McGaughran JM, Gaunt L, Dore J, Petrij F, Dauwerse HG, Donnai D. McGaughran JM, et al. Among authors: petrij f. J Med Genet. 1996 Jan;33(1):82-3. doi: 10.1136/jmg.33.1.82. J Med Genet. 1996. PMID: 8825057 Free PMC article.

9

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16).

Giles RH, Dauwerse JG, Higgins C, Petrij F, Wessels JW, Beverstock GC, Döhner H, Jotterand-Bellomo M, Falkenburg JH, Slater RM, van Ommen GJ, Hagemeijer A, van der Reijden BA, Breuning MH. Giles RH, et al. Among authors: petrij f. Leukemia. 1997 Dec;11(12):2087-96. doi: 10.1038/sj.leu.2400882. Leukemia. 1997. PMID: 9447825

10

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: petrij f. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

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