| 1 | LHCGR, PHLCH
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| A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.
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| Rivero-Müller A, Potorac I, Pintiaux A, Daly AF, Thiry A, Rydlewski C, Nisolle M, Parent AS, Huhtaniemi I, Beckers A.
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| Eur J Endocrinol 172(6):K27-36. doi: 10.1530/EJE-14-1095. Epub 2015 Mar 20.
2015
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| 2 | LHCGR, PHLCH
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| A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.
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| Qiao J, Han B, Liu BL, Chen X, Ru Y, Cheng KX, Chen FG, Zhao SX, Liang J, Lu YL, Tang JF, Wu YX, Wu WL, Chen JL, Chen MD, Song HD.
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| Hum Mutat 30(9):E855-65.PMID: 19551906 2009
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| 3 | LHCGR, PHLCH
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| A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E epsilon4 allele.
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| Haasl RJ, Ahmadi MR, Meethal SV, Gleason CE, Johnson SC, Asthana S, Bowen RL, Atwood CS.
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| BMC Med Genet 9:37.PMID: 18439297 2008
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| 4 | LHCGR, PHLCH
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| Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.
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| Gromoll J, Schulz A, Borta H, Gudermann T, Teerds KJ, Greschniok A, Nieschlag E, Seif FJ.
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| Eur J Endocrinol 147(5):597-608. 2002
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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, PHLCH
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| A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.
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| Latronico AC, Chai Y, Arnhold IJ, Liu X, Mendonca BB, Segaloff DL.
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| Mol Endocrinol 12(3):442-50. 1998
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| 7 | LHCGR, PHLCH
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| A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia : correlation between receptor activity and phenotype.
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| Martens JW, et al.
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| Mol Endocrinol 12 : 775-784. 1998
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| 8 | LHCGR, PHLCH
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| Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.
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| Laue LL, et al.
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| Mol Endocrinol 10 : 987-997. 1996
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| 9 | LHCGR, PHLCH
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| A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.
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| Laue L, et al.
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| Hum Mol Genet 4 : 1429-1433. 1995
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