1 | LHCGR, PPML
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| Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
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| Özcabı B, Tahmiscioğlu Bucak F, Ceylaner S, Özcan R, Büyükünal C, Ercan O, Tüysüz B, Evliyaoğlu O.
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| J Clin Res Pediatr Endocrinol 7(3):242-8. doi: 10.4274/jcrpe.2067.
2015
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2 | LHCGR, PPML
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| Natural antisense LHCGR could make sense of hypogonadism, male-limited precocious puberty and pre-eclampsia.
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| Chambers AE, Banerjee S.
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| Mol Cell Endocrinol 241(1-2):1-9. Review.PMID: 16087288 2005
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3 | LHCGR, PPML
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| A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty : effect of the size of a critical amino acid on receptor activity.
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| Wu SM, et al.
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| Mol Genet Metab 66 : 68-73. 1999
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4 | LHCGR, PPML
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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.
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| Kremer H, et al.
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| J Clin Endocrinol Metab 84(3):1136-40. 1999
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5 | PHLCH, LHCGR, PPML
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| Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein-Coupled Receptors.
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| Latronico AC, et al.
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| Am J Hum Genet 65(4):949-958. No abstract available 1999
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6 | LHCGR, PPML
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| A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.
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| Gromoll J, Partsch CJ, Simoni M, Nordhoff V, Sippell WG, Nieschlag E, Saxena BB.
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| J Clin Endocrinol Metab 83(2):476-80. 1998
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7 | LHCGR, PPML
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| Severe testotoxicosis phenotype associated with Asp578-Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
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| Mller J, et al.
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| J Med Genet 35 : 340-341. 1998
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8 | LHCGR, PPML
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| A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
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| Latronico AC, et al.
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| J Clin Endocrinol Metab 83 : 2435-2440. 1998
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9 | LHCGR, PPML
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| A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty : genotype does not always correlate with phenotype.
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| Evans BAJ, et al.
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| J Med Genet 33 : 143-147. 1996
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10 | LHCGR, PPML
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| A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.
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| Cocco S, et al.
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| Hum Mutat 7 : 164-166. 1996
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11 | LHCGR, PPML
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| Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.
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| Latronico AC, et al.
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| N Engl J Med 334 : 507-512. 1996
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12 | PPML, LHCGR
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| A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene.
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| Yano K, et al.
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| Biochem Biophys Res Commun 220 : 1036-1042. 1996
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13 | PPML, LHCGR
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| Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
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| Kremer H, et al.
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| Nat Genet 9 : 160-164. 1995
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14 | LHCGR, PPML
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| Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
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| Kosugi S, et al.
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| Hum Mol Genet 4 : 183-188. 1995
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15 | LHCGR, PPML
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| A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.
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| Latronico AC, et al.
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| J Clin Endocrinol Metab 80 : 2490-2494. 1995
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16 | PPML, LHCGR
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| A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.
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| Kraaij R, et al.
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| J Clin Endocrinol Metab 80 : 3168-3172. 1995
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17 | LHCGR, PPML
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| Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).
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| Kawate N, et al.
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| J Med Genet 32 : 553-554. 1995
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18 | LHCGR, PPML
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| Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.
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| Kremer H, et al.
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| Hum Mol Genet 2 : 1779-1783. 1993
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