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Page 1
The IGSF1 deficiency syndrome: characteristics of male and female patients.
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS. Joustra SD, et al. Among authors: hennekam rc. J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9. J Clin Endocrinol Metab. 2013. PMID: 24108313
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: hennekam rc. 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.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Among authors: hennekam rc. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
Growth-reductive therapy in children with marfan syndrome.
Rozendaal L, le Cessie S, Wit JM, Hennekam RC, The Dutch Marfan Working Group. Rozendaal L, et al. Among authors: hennekam rc. J Pediatr. 2005 Nov;147(5):674-9. doi: 10.1016/j.jpeds.2005.06.011. J Pediatr. 2005. PMID: 16291362
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM. de Boer L, et al. Among authors: hennekam rc. Horm Res. 2004;62(4):197-207. doi: 10.1159/000081063. Epub 2004 Sep 24. Horm Res. 2004. PMID: 15452385 Free article.
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC. Maas SM, et al. Among authors: hennekam rc. J Med Genet. 2009 Oct;46(10):716-20. doi: 10.1136/jmg.2009.068403. Epub 2009 Jul 7. J Med Genet. 2009. PMID: 19586929
Mutations in IRS4 are associated with central hypothyroidism.
Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E. Heinen CA, et al. Among authors: hennekam rc. J Med Genet. 2018 Oct;55(10):693-700. doi: 10.1136/jmedgenet-2017-105113. Epub 2018 Jul 30. J Med Genet. 2018. PMID: 30061370 Free PMC article.
579 results