Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
暂无分享,去创建一个
S. Poyrazoglu | A. Topaloğlu | L. D. Kotan | E. Mengen | M. B. Kekil | M. Dogan | Z. Şıklar | M. Berberoğlu | F. Temiz | B. Yüksel | Ayla Güven | B. Kırel | S. Özen | H. Demirbilek | Fatih Gürbüz | N. Saka | Y. Cesur | S. Dökmetaş | N. Önenli Mungan | M. F. Kılıçlı | M. Özbek
[1] A. Topaloğlu,et al. Inactivating KISS1 mutation and hypogonadotropic hypogonadism. , 2012, The New England journal of medicine.
[2] W. Crowley,et al. Genetic counseling for isolated GnRH deficiency , 2011, Molecular and Cellular Endocrinology.
[3] F. Guimiot,et al. GnRH receptor mutations in isolated gonadotropic deficiency , 2011, Molecular and Cellular Endocrinology.
[4] P. Chanson,et al. Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations , 2011, PloS one.
[5] A. Latronico,et al. Genetics basis for GnRH-dependent pubertal disorders in humans , 2010, Molecular and Cellular Endocrinology.
[6] R. Quinton,et al. TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. , 2010, The Journal of clinical endocrinology and metabolism.
[7] Hyung-Goo Kim,et al. Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations. , 2010, Frontiers of hormone research.
[8] U. Kaiser,et al. The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism , 2009, Nature Reviews Endocrinology.
[9] S. O’Rahilly,et al. Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. , 2009, The Journal of clinical endocrinology and metabolism.
[10] Frank Reimann,et al. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction , 2009, Nature Genetics.
[11] G. Bédécarrats,et al. Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function. , 2007, Seminars in reproductive medicine.
[12] S. O’Rahilly,et al. Molecular Genetic Analysis of Normosmic Hypogonadotropic Hypogonadism in a Turkish Population: Identification and Detailed Functional Characterization of a Novel Mutation in the Gonadotropin-Releasing Hormone Receptor Gene , 2007, Neuroendocrinology.
[13] M. Dattani,et al. A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. , 2006, The Journal of clinical endocrinology and metabolism.
[14] D. Bick,et al. Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. , 2006, Fertility and sterility.
[15] W. Crowley,et al. GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. , 2004, The Journal of clinical endocrinology and metabolism.
[16] R. Kühne,et al. Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. , 2003, The Journal of clinical endocrinology and metabolism.
[17] P. Laudanski,et al. A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene. , 2003, Fertility and sterility.
[18] R. Quinton,et al. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization* , 2001, Clinical endocrinology.
[19] G. Bédécarrats,et al. Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. , 2001, The Journal of clinical endocrinology and metabolism.
[20] W. Crowley,et al. The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. , 2001, The Journal of clinical endocrinology and metabolism.
[21] W. Crowley,et al. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. , 2001, The Journal of clinical endocrinology and metabolism.
[22] W. Crowley,et al. Genetics of hypogonadotropic hypogonadism , 2000, Journal of endocrinological investigation.
[23] N. Farid,et al. A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. , 2000, The Journal of clinical endocrinology and metabolism.
[24] P. Caron,et al. Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. , 1999, The Journal of clinical endocrinology and metabolism.
[25] E. Milgrom,et al. The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. , 1999, The Journal of clinical endocrinology and metabolism.
[26] P. Chanson,et al. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. , 1997, The New England journal of medicine.
[27] L. Holmes,et al. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. , 1996, The Journal of clinical endocrinology and metabolism.
[28] I. Koç,et al. Consanguineous marriage in Turkey and its impact on fertility and mortality , 1994, Annals of human genetics.
[29] A. Topaloğlu,et al. Neurokinin B and its receptor in hypogonadotropic hypogonadism. , 2010, Frontiers of hormone research.
[30] W. Crowley,et al. New genes controlling human reproduction and how you find them. , 2008, Transactions of the American Clinical and Climatological Association.
[31] D. Bick,et al. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism , 1998, Nature Genetics.