188 related articles for article (PubMed ID: 9177373)
1. Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood.
Mullis PE; Yoshimura N; Kuhlmann B; Lippuner K; Jaeger P; Harada H
J Clin Endocrinol Metab; 1997 Jun; 82(6):1739-45. PubMed ID: 9177373
[TBL] [Abstract][Full Text] [Related]
2. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom).
Conte FA; Grumbach MM; Ito Y; Fisher CR; Simpson ER
J Clin Endocrinol Metab; 1994 Jun; 78(6):1287-92. PubMed ID: 8200927
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 14602738
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 10566648
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 8530621
[TBL] [Abstract][Full Text] [Related]
6. Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement.
Burckhardt MA; Obmann V; Wolf R; Janner M; Flück CE; Mullis PE
Gynecol Endocrinol; 2015 May; 31(5):349-54. PubMed ID: 25585547
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 12466340
[TBL] [Abstract][Full Text] [Related]
8. Pediatric endocrinology update: an overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: lessons from mutations in the genes for aromatase and the estrogen receptor.
MacGillivray MH; Morishima A; Conte F; Grumbach M; Smith EP
Horm Res; 1998; 49 Suppl 1():2-8. PubMed ID: 9554463
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in the human aromatase gene: insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment.
Lanfranco F; Zirilli L; Baldi M; Pignatti E; Corneli G; Ghigo E; Aimaretti G; Carani C; Rochira V
Bone; 2008 Sep; 43(3):628-35. PubMed ID: 18590994
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 23329769
[TBL] [Abstract][Full Text] [Related]
11. Hypothesis: Persistently elevated hCG causes gestational ovarian overstimulation associated with prolonged postpartum hyperandrogenism in mothers of aromatase-deficient babies.
Riedl S; Springer A; Häusler G; Price G; Richter-Unruh A; Stener-Victorin E; Wudy SA
J Clin Endocrinol Metab; 2013 Aug; 98(8):3115-20. PubMed ID: 23824416
[TBL] [Abstract][Full Text] [Related]
12. Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.
Janner M; Flück CE; Mullis PE
Horm Res Paediatr; 2012; 78(4):261-8. PubMed ID: 22964562
[TBL] [Abstract][Full Text] [Related]
13. A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome.
Maffei L; Rochira V; Zirilli L; Antunez P; Aranda C; Fabre B; Simone ML; Pignatti E; Simpson ER; Houssami S; Clyne CD; Carani C
Clin Endocrinol (Oxf); 2007 Aug; 67(2):218-24. PubMed ID: 17547681
[TBL] [Abstract][Full Text] [Related]
14. 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; 390(1-2):8-17. PubMed ID: 24705274
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 10599737
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
Ito Y; Fisher CR; Conte FA; Grumbach MM; Simpson ER
Proc Natl Acad Sci U S A; 1993 Dec; 90(24):11673-7. PubMed ID: 8265607
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 17452968
[TBL] [Abstract][Full Text] [Related]
18. Estrogen replacement therapy in a man with congenital aromatase deficiency: effects of different doses of transdermal estradiol on bone mineral density and hormonal parameters.
Rochira V; Faustini-Fustini M; Balestrieri A; Carani C
J Clin Endocrinol Metab; 2000 May; 85(5):1841-5. PubMed ID: 10843162
[TBL] [Abstract][Full Text] [Related]
19. No evidence of mutations in the P450 aromatase gene in patients with polycystic ovary syndrome.
Söderlund D; Canto P; Carranza-Lira S; Méndez JP
Hum Reprod; 2005 Apr; 20(4):965-9. PubMed ID: 15695318
[TBL] [Abstract][Full Text] [Related]
20. Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.
Belgorosky A; Guercio G; Pepe C; Saraco N; Rivarola MA
Horm Res; 2009; 72(6):321-30. PubMed ID: 19844120
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
