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Items: 1 to 20 of 129

1.

Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.

Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K.

J Clin Endocrinol Metab. 1995 Dec;80(12):3689-98.

PMID:
8530621
2.
3.

Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene.

Belgorosky A, Pepe C, Marino R, Guercio G, Saraco N, Vaiani E, Rivarola MA.

J Clin Endocrinol Metab. 2003 Nov;88(11):5127-31.

PMID:
14602738
5.

Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene.

Herrmann BL, Saller B, Janssen OE, Gocke P, Bockisch A, Sperling H, Mann K, Broecker M.

J Clin Endocrinol Metab. 2002 Dec;87(12):5476-84.

PMID:
12466340
6.

Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy.

Deladoëy J, Flück C, Bex M, Yoshimura N, Harada N, Mullis PE.

J Clin Endocrinol Metab. 1999 Nov;84(11):4050-4.

PMID:
10566648
8.

Dominant transmission of prepubertal gynecomastia due to serum estrone excess: hormonal, biochemical, and genetic analysis in a large kindred.

Binder G, Iliev DI, Dufke A, Wabitsch M, Schweizer R, Ranke MB, Schmidt M.

J Clin Endocrinol Metab. 2005 Jan;90(1):484-92. Epub 2004 Oct 13.

PMID:
15483104
9.

Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.

Bouchoucha N, Samara-Boustani D, Pandey AV, Bony-Trifunovic H, Hofer G, Aigrain Y, Polak M, Flück CE.

Mol Cell Endocrinol. 2014 Jun 5;390(1-2):8-17. doi: 10.1016/j.mce.2014.03.008. Epub 2014 Apr 4.

PMID:
24705274
10.

Estrogen: consequences and implications of human mutations in synthesis and action.

Grumbach MM, Auchus RJ.

J Clin Endocrinol Metab. 1999 Dec;84(12):4677-94. Review.

PMID:
10599737
11.

Aromatase deficiency and estrogen resistance: from molecular genetics to clinic.

Bulun SE.

Semin Reprod Med. 2000;18(1):31-9. Review.

PMID:
11305285
12.

Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency.

Verma N, Jain V, Birla S, Jain R, Sharma A.

J Pediatr Endocrinol Metab. 2012;25(11-12):1185-90. doi: 10.1515/jpem-2012-0152.

PMID:
23329769
13.

Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment.

Maffei L, Murata Y, Rochira V, Tubert G, Aranda C, Vazquez M, Clyne CD, Davis S, Simpson ER, Carani C.

J Clin Endocrinol Metab. 2004 Jan;89(1):61-70.

PMID:
14715828
14.

Molecular basis of severe gynecomastia associated with aromatase expression in a fibrolamellar hepatocellular carcinoma.

Agarwal VR, Takayama K, Van Wyk JJ, Sasano H, Simpson ER, Bulun SE.

J Clin Endocrinol Metab. 1998 May;83(5):1797-800.

PMID:
9589695
15.

Genetic mutations resulting in estrogen insufficiency in the male.

Simpson ER.

Mol Cell Endocrinol. 1998 Oct 25;145(1-2):55-9. Review.

PMID:
9922099
16.

Aromatase deficiency, a rare syndrome: case report.

Baykan EK, Erdoğan M, Özen S, Darcan Ş, Saygılı LF.

J Clin Res Pediatr Endocrinol. 2013;5(2):129-32. doi: 10.4274/Jcrpe.970. Erratum in: J Clin Res Pediatr Endocrinol. 2013 Sep 10;5(3):216.

17.

Human models of aromatase deficiency.

Zirilli L, Rochira V, Diazzi C, Caffagni G, Carani C.

J Steroid Biochem Mol Biol. 2008 Apr;109(3-5):212-8. doi: 10.1016/j.jsbmb.2008.03.026. Epub 2008 Mar 20.

PMID:
18448329
18.

Recognizing rare disorders: aromatase deficiency.

Jones ME, Boon WC, McInnes K, Maffei L, Carani C, Simpson ER.

Nat Clin Pract Endocrinol Metab. 2007 May;3(5):414-21.

PMID:
17452968
19.

The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.

Pepe CM, Saraco NI, Baquedano MS, Guercio G, Vaiani E, Marino R, Pandey AV, Flück CE, Rivarola MA, Belgorosky A.

Clin Endocrinol (Oxf). 2007 Nov;67(5):698-705. Epub 2007 Jul 2.

PMID:
17608756
20.

Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency.

Herrmann BL, Janssen OE, Hahn S, Broecker-Preuss M, Mann K.

Horm Metab Res. 2005 Mar;37(3):178-83.

PMID:
15824973

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