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Results: 1 to 20 of 131

1.

Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty.

Latronico AC, Billerbeck AE, Pinto EM, Brazil D'Alva C, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2003 Oct;59(4):533-4. No abstract available.

PMID:
14510919
[PubMed - indexed for MEDLINE]
2.

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

Kremer H, Mariman E, Otten BJ, Moll GW Jr, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, et al.

Hum Mol Genet. 1993 Nov;2(11):1779-83.

PMID:
8281137
[PubMed - indexed for MEDLINE]
3.

Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty.

Nagasaki K, Katsumata N, Ogawa Y, Kikuchi T, Uchiyama M.

Endocr J. 2010;57(12):1055-60. Epub 2010 Nov 2.

PMID:
21060208
[PubMed - indexed for MEDLINE]
Free Article
4.

Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

Latronico AC, Shinozaki H, Guerra G Jr, Pereira MA, Lemos Marini SH, Baptista MT, Arnhold IJ, Fanelli F, Mendonca BB, Segaloff DL.

J Clin Endocrinol Metab. 2000 Dec;85(12):4799-805.

PMID:
11134146
[PubMed - indexed for MEDLINE]
5.

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

Cocco S, Meloni A, Marini MG, Cao A, Moi P.

Hum Mutat. 1996;7(2):164-6. No abstract available.

PMID:
8829636
[PubMed - indexed for MEDLINE]
6.

Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty.

Laue L, Wu SM, Kudo M, Hsueh AJ, Cutler GB Jr, Jelly DH, Diamond FB, Chan WY.

Biochem Mol Med. 1996 Aug;58(2):192-8.

PMID:
8812739
[PubMed - indexed for MEDLINE]
7.

[Constitutively activating mutations in the luteinizing hormone receptor gene in cases of male-limited precocious puberty].

Yano K, Okuno A.

Nihon Rinsho. 1998 Jul;56(7):1843-7. Review. Japanese.

PMID:
9702063
[PubMed - indexed for MEDLINE]
8.

Japanese familial patients with male-limited precocious puberty.

Shinagawa T, Katsumata N, Sato N, Horikawa R, Tanae A, Tanaka T.

Endocr J. 2000 Dec;47(6):777-82.

PMID:
11228053
[PubMed - indexed for MEDLINE]
Free Article
9.

Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

Kosugi S, Van Dop C, Geffner ME, Rabl W, Carel JC, Chaussain JL, Mori T, Merendino JJ Jr, Shenker A.

Hum Mol Genet. 1995 Feb;4(2):183-8.

PMID:
7757065
[PubMed - indexed for MEDLINE]
10.

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

Shenker A, Laue L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GB Jr.

Nature. 1993 Oct 14;365(6447):652-4.

PMID:
7692306
[PubMed - indexed for MEDLINE]
11.

[A report of familial male-limited precocious puberty caused by a germ-line heterozygous mutation (M398T) in luteinizing hormone receptor gene].

Mao JF, Wu XY, Nie M, Lu SY, Gong FY, Dai YF.

Zhonghua Nei Ke Za Zhi. 2010 Dec;49(12):1024-7. Chinese.

PMID:
21211360
[PubMed - indexed for MEDLINE]
12.

A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

Latronico AC, Anasti J, Arnhold IJ, Mendonça BB, Domenice S, Albano MC, Zachman K, Wajchenberg BL, Tsigos C.

J Clin Endocrinol Metab. 1995 Aug;80(8):2490-4.

PMID:
7629248
[PubMed - indexed for MEDLINE]
13.
14.

Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty.

Ignacak M, Hilczer M, Zarzycki J, Trzeciak WH.

Endocr J. 2000 Oct;47(5):595-9.

PMID:
11200941
[PubMed - indexed for MEDLINE]
Free Article
15.
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17.

LH receptor defects.

Themmen AP, Verhoef-Post M.

Semin Reprod Med. 2002 Aug;20(3):199-204. Review.

PMID:
12428200
[PubMed - indexed for MEDLINE]
18.

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.

J Clin Endocrinol Metab. 1999 Mar;84(3):1136-40.

PMID:
10084607
[PubMed - indexed for MEDLINE]
19.

[Familial male-limited precocious puberty].

Katsumata N, Tanaka T.

Nihon Rinsho. 1997 Nov;55(11):2959-62. Review. Japanese.

PMID:
9396295
[PubMed - indexed for MEDLINE]
20.

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