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A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty.
Kremer H, Martens JW, van Reen M, Verhoef-Post M, Wit JM, Otten BJ, Drop SL, Delemarre-van de Waal HA, Pombo-Arias M, De Luca F, Potau N, Buckler JM, Jansen M, Parks JS, Latif HA, Moll GW, Epping W, Saggese G, Mariman EC, Themmen AP, Brunner HG. Kremer H, et al. Among authors: brunner hg. J Clin Endocrinol Metab. 1999 Mar;84(3):1136-40. doi: 10.1210/jcem.84.3.5515. J Clin Endocrinol Metab. 1999. PMID: 10084607
Gonadotropin receptor mutations.
Themmen AP, Martens JW, Brunner HG. Themmen AP, et al. Among authors: brunner hg. J Endocrinol. 1997 May;153(2):179-83. doi: 10.1677/joe.0.1530179. J Endocrinol. 1997. PMID: 9166106 Free article. Review. No abstract available.
Activating and inactivating mutations in LH receptors.
Themmen AP, Martens JW, Brunner HG. Themmen AP, et al. Among authors: brunner hg. Mol Cell Endocrinol. 1998 Oct 25;145(1-2):137-42. doi: 10.1016/s0303-7207(98)00180-4. Mol Cell Endocrinol. 1998. PMID: 9922110 Review.
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. van Bokhoven H, et al. Among authors: brunner hg. Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246. Am J Hum Genet. 1999. PMID: 9973291 Free PMC article.
498 results