Oostra RJ - Search Results

1

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

Škorić-Milosavljević D, Tjong FVY, Barc J, Backx APCM, Clur SB, van Spaendonck-Zwarts K, Oostra RJ, Lahrouchi N, Beekman L, Bökenkamp R, Barge-Schaapveld DQCM, Mulder BJ, Lodder EM, Bezzina CR, Postma AV. Škorić-Milosavljević D, et al. Among authors: oostra rj. Am J Med Genet A. 2019 Sep;179(9):1836-1845. doi: 10.1002/ajmg.a.61294. Epub 2019 Jul 12. Am J Med Genet A. 2019. PMID: 31301121 Free PMC article.

2

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, Bleeker-Wagemakers EM. Oostra RJ, et al. J Med Genet. 1994 Apr;31(4):280-6. doi: 10.1136/jmg.31.4.280. J Med Genet. 1994. PMID: 8071952 Free PMC article.

3

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.

Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC. Postma AV, et al. Among authors: oostra rj. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253444

4

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M. Bouman A, et al. Among authors: oostra rj. Am J Med Genet A. 2017 May;173(5):1383-1389. doi: 10.1002/ajmg.a.38179. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371265 Free PMC article.

5

Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

Bouman A, Waisfisz Q, Admiraal J, van de Loo M, van Rijn RR, Micha D, Oostra RJ, Mathijssen IB. Bouman A, et al. Among authors: oostra rj. Am J Med Genet A. 2018 May;176(5):1216-1221. doi: 10.1002/ajmg.a.38668. Am J Med Genet A. 2018. PMID: 29681102

6

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.

Oostra RJ, Baljet B, Schutgens RB, Hennekam RC. Oostra RJ, et al. Am J Med Genet. 1997 Jan 31;68(3):257-9. doi: 10.1002/(sici)1096-8628(19970131)68:3<257::aid-ajmg2>3.0.co;2-j. Am J Med Genet. 1997. PMID: 9024555

7

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias.

Oostra RJ, Baljet B, Dijkstra PF, Hennekam RC. Oostra RJ, et al. Am J Med Genet. 1998 May 1;77(2):116-34. Am J Med Genet. 1998. PMID: 9605285

8

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies.

Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC. Oostra RJ, et al. Am J Med Genet. 1998 Oct 30;80(1):46-59. doi: 10.1002/(sici)1096-8628(19981102)80:1<46::aid-ajmg8>3.0.co;2-l. Am J Med Genet. 1998. PMID: 9800911

9

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube.

Oostra RJ, Baljet B, Hennekam RC. Oostra RJ, et al. Am J Med Genet. 1998 Oct 30;80(1):60-73. doi: 10.1002/(sici)1096-8628(19981102)80:1<60::aid-ajmg9>3.0.co;2-i. Am J Med Genet. 1998. PMID: 9800912

10

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. V: conjoined and acardiac twins.

Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC. Oostra RJ, et al. Am J Med Genet. 1998 Oct 30;80(1):74-89. Am J Med Genet. 1998. PMID: 9800913

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