Citations for
1LHCGR, PPML
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
Özcabı B, Tahmiscioğlu Bucak F, Ceylaner S, Özcan R, Büyükünal C, Ercan O, Tüysüz B, Evliyaoğlu O.
J Clin Res Pediatr Endocrinol 7(3):242-8. doi: 10.4274/jcrpe.2067. 2015
2LHCGR, PPML
Natural antisense LHCGR could make sense of hypogonadism, male-limited precocious puberty and pre-eclampsia.
Chambers AE, Banerjee S.
Mol Cell Endocrinol 241(1-2):1-9. Review.PMID: 16087288 2005
3LHCGR, PPML
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.
Wu SM, et al.
Mol Genet Metab 66 : 68-73. 1999
4LHCGR, PPML
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, et al.
J Clin Endocrinol Metab 84(3):1136-40. 1999
5PHLCH, LHCGR, PPML
Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein-Coupled Receptors.
Latronico AC, et al.
Am J Hum Genet 65(4):949-958. No abstract available 1999
6LHCGR, PPML
A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.
Gromoll J, Partsch CJ, Simoni M, Nordhoff V, Sippell WG, Nieschlag E, Saxena BB.
J Clin Endocrinol Metab 83(2):476-80. 1998
7LHCGR, PPML
Severe testotoxicosis phenotype associated with Asp578-Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
MŸller J, et al.
J Med Genet 35 : 340-341. 1998
8LHCGR, PPML
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
Latronico AC, et al.
J Clin Endocrinol Metab 83 : 2435-2440. 1998
9LHCGR, PPML
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.
Evans BAJ, et al.
J Med Genet 33 : 143-147. 1996
10LHCGR, PPML
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.
Cocco S, et al.
Hum Mutat 7 : 164-166. 1996
11 LHCGR, PPML
Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.
Latronico AC, et al.
N Engl J Med 334 : 507-512. 1996
12PPML, LHCGR
A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene.
Yano K, et al.
Biochem Biophys Res Commun 220 : 1036-1042. 1996
13PPML, LHCGR
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
Kremer H, et al.
Nat Genet 9 : 160-164. 1995
14LHCGR, PPML
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
Kosugi S, et al.
Hum Mol Genet 4 : 183-188. 1995
15LHCGR, PPML
A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.
Latronico AC, et al.
J Clin Endocrinol Metab 80 : 2490-2494. 1995
16PPML, LHCGR
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.
Kraaij R, et al.
J Clin Endocrinol Metab 80 : 3168-3172. 1995
17LHCGR, PPML
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).
Kawate N, et al.
J Med Genet 32 : 553-554. 1995
18LHCGR, PPML
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.
Kremer H, et al.
Hum Mol Genet 2 : 1779-1783. 1993