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Page 1
Mutations in TBL1X Are Associated With Central Hypothyroidism.
Heinen CA, Losekoot M, Sun Y, Watson PJ, Fairall L, Joustra SD, Zwaveling-Soonawala N, Oostdijk W, van den Akker EL, Alders M, Santen GW, van Rijn RR, Dreschler WA, Surovtseva OV, Biermasz NR, Hennekam RC, Wit JM, Schwabe JW, Boelen A, Fliers E, van Trotsenburg AS. Heinen CA, et al. Among authors: van den akker el, van trotsenburg as, van rijn rr. J Clin Endocrinol Metab. 2016 Dec;101(12):4564-4573. doi: 10.1210/jc.2016-2531. Epub 2016 Sep 7. J Clin Endocrinol Metab. 2016. PMID: 27603907 Free PMC article.
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH. Hopman SM, et al. Among authors: van der horst cm, van rijn rr. Am J Med Genet A. 2012 Jul;158A(7):1719-23. doi: 10.1002/ajmg.a.35406. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628360
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: van maarle mc, van rijn rr. 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
Early thyroxine treatment in Down syndrome and thyroid function later in life.
Zwaveling-Soonawala N, Witteveen ME, Marchal JP, Klouwer FCC, Ikelaar NA, Smets AMJB, van Rijn RR, Endert E, Fliers E, van Trotsenburg ASP. Zwaveling-Soonawala N, et al. Among authors: van trotsenburg asp, van rijn rr. Eur J Endocrinol. 2017 May;176(5):505-513. doi: 10.1530/EJE-16-0858. Epub 2017 Jan 30. Eur J Endocrinol. 2017. PMID: 28137734 Clinical Trial.
A longitudinal study on bone mineral density until adulthood in girls with Turner's syndrome participating in a growth hormone injection frequency-response trial.
Sass TC, De Muinck Keizer-Schrama SM, Stijnen T, Asarfi A, Van Leeuwen WJ, Van Teunenbroek A, Van Rijn RR, Drop SL. Sass TC, et al. Among authors: van leeuwen wj, van teunenbroek a, van rijn rr. Clin Endocrinol (Oxf). 2000 May;52(5):531-6. doi: 10.1046/j.1365-2265.2000.00963.x. Clin Endocrinol (Oxf). 2000. PMID: 10792330 Clinical Trial.
The use of bone age in clinical practice - part 1.
Martin DD, Wit JM, Hochberg Z, Sävendahl L, van Rijn RR, Fricke O, Cameron N, Caliebe J, Hertel T, Kiepe D, Albertsson-Wikland K, Thodberg HH, Binder G, Ranke MB. Martin DD, et al. Among authors: van rijn rr. Horm Res Paediatr. 2011;76(1):1-9. doi: 10.1159/000329372. Epub 2011 Jun 21. Horm Res Paediatr. 2011. PMID: 21691054 Free article. Review.
The use of bone age in clinical practice - part 2.
Martin DD, Wit JM, Hochberg Z, van Rijn RR, Fricke O, Werther G, Cameron N, Hertel T, Wudy SA, Butler G, Thodberg HH, Binder G, Ranke MB. Martin DD, et al. Among authors: van rijn rr. Horm Res Paediatr. 2011;76(1):10-6. doi: 10.1159/000329374. Epub 2011 Jun 21. Horm Res Paediatr. 2011. PMID: 21691055 Free article. Review.
Long-term efficacy of current thyroid prophylaxis and future perspectives on thyroid protection during 131I-metaiodobenzylguanidine treatment in children with neuroblastoma.
Clement SC, van Rijn RR, van Eck-Smit BL, van Trotsenburg AS, Caron HN, Tytgat GA, van Santen HM. Clement SC, et al. Among authors: van santen hm, van trotsenburg as, van eck smit bl, van rijn rr. Eur J Nucl Med Mol Imaging. 2015 Apr;42(5):706-15. doi: 10.1007/s00259-014-2967-4. Epub 2014 Dec 16. Eur J Nucl Med Mol Imaging. 2015. PMID: 25512056
268 results