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309 results

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A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.
Walenkamp MJ, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof MF, Breuning MH, Romijn JA, Karperien M, Wit JM. Walenkamp MJ, et al. Among authors: breuning mh. J Clin Endocrinol Metab. 2006 Aug;91(8):3062-70. doi: 10.1210/jc.2005-1597. Epub 2006 Jun 6. J Clin Endocrinol Metab. 2006. PMID: 16757531
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
Vidarsdottir S, Walenkamp MJ, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, White S, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA. Vidarsdottir S, et al. Among authors: breuning mh. J Clin Endocrinol Metab. 2006 Sep;91(9):3482-5. doi: 10.1210/jc.2006-0368. Epub 2006 Jun 20. J Clin Endocrinol Metab. 2006. PMID: 16787985
Overgrowth syndromes:from classical to new.
Visser R, Kant SG, Wit JM, Breuning MH. Visser R, et al. Among authors: breuning mh. Pediatr Endocrinol Rev. 2009 Mar;6(3):375-94. Pediatr Endocrinol Rev. 2009. PMID: 19396024 Review.
Genetic analysis of tall stature.
Kant SG, Wit JM, Breuning MH. Kant SG, et al. Among authors: breuning mh. Horm Res. 2005;64(3):149-56. doi: 10.1159/000088589. Epub 2005 Sep 27. Horm Res. 2005. PMID: 16192740
Radiographic evaluation of children with growth disorders.
Kant SG, Grote F, de Ru MH, Oostdijk W, Zonderland HM, Breuning MH, Wit JM. Kant SG, et al. Among authors: breuning mh. Horm Res. 2007;68(6):310-5. doi: 10.1159/000108399. Epub 2007 Sep 17. Horm Res. 2007. PMID: 17873493 Review.
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: breuning mh. Horm Res Paediatr. 2012;77(5):320-33. doi: 10.1159/000338462. Epub 2012 Jun 6. Horm Res Paediatr. 2012. PMID: 22678306
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: breuning mh. 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
309 results