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| 1 | A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans显示文摘 | Achermann J C Ito M Hindmarsh P C | 1999 | Nat Genet1999，22，： | 1 |
| 2 | Nonequilibrium electron dynamics in noble metals显示文摘 | Fatti N D Voisin C Achermann M | | 0，，： | 1 |
| 3 | Treatmentstrategies for periprosthetic infections after primary elbowarthroplasty 显示文摘 | Spormann C Achermann Y Simmen BR | 2012 | J Shoulder Elbow Surg2012，21，8： | 1 |
| 4 | Steroidogenic factor-1(SF-1, Ad4BP, NR5A1) and disorders of testis development显示文摘 | Lin L Achermann J C | 2008 | Sex Dev2008，2，45： | 1 |
| 5 | An improved macro sticky analysis guarantees objective, reliable and fast results 显示文摘 | Achermann C Putz H J Gottsching L | 1998 | Progress in Paper RecycLing1998，7，2： | 1 |
| 6 | Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1,in a dose-dependent manner显示文摘 | Achermann J C Ozisik G Ito M | 2002 | J Clin Endocrinol Metab2002，87，： | 1 |
| 7 | Steroidogenic factor-1 (SF-1,Ad4BP,NR- 5A 1 ) and disorders of testis development 显示文摘 | Lin L Achermann J C | 2008 | Sex Dev2008，2，45： | 1 |
| 8 | Update-steroidogenic factor 1 (SF-I, NR5A 1 ) 显示文摘 | Kohler B Achermann J C | 2010 | Minerva Endocrinol2010，35，2： | 1 |
| 9 | A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogo- nadotropic hypogonadism 显示文摘 | Tabarin A Achermann J C Recan D | 2000 | J Clin Invest2000，105，3： | 1 |
| 10 | Clinical caseseminar:two novelmissense mutations in G protein - coupled recep tor-54 in a patientwith hypogonadotrop ic hypogonadism显示文摘 | SEMPLE R K ACHERMANN J C ELLERY J | 2005 | J Clin Endocrinol Metal92005，90，3： | 1 |
| 11 | Hypogonadotropic hy- pogonadism as apresenting feature of late-onset X-linked adrenal hypo- plasia congenita显示文摘 | Mantovani G Ozisik G Achermann J C | 2002 | J Clin E ndocrinol Metab2002，87，1： | 1 |
| 12 | A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes显示文摘 | Ito M Achermann J C Jameson J L | 2000 | J Biol Chem2000，275，31： | 1 |
| 13 | Treatment strategies for periprosthetic infections after primary elbow arthroplasty显示文摘 | Spormann C Achermann Y Simmen BR | 2012 | J Shoulder Elbow Surg2012，21，8： | 1 |
| 14 | Dismantling the learning curve:the role of disruptions on the planning of development projects显示文摘 | Eden C E WILLIAMS T M ACHERMANN F A | | 0，，03： | 1 |
| 15 | Nonequilibrium electron dynamics in noble metals 显示文摘 | FATTI N D VOISIN C ACHERMANN M | 2000 | Physical Review B2000，61，16： | 1 |
| 16 | X—连锁肾上腺先天性发育不良与DAX—1显示文摘X-连锁骨上腺先天性发育不良(X-linked adreal hypoplasia congenita,AHC)(OMIM,300200)是孤核受体,即DAx-1突变导致的严重危害健康的疾病。现巳发现Dax-1有50侠种突变型Dax1。Dax1在肾上腺及下丘脑-垂体-性腺轴均有表达。因此,婴儿期及儿童发病表现为原发性肾上腺皮质功能低下,青春发育阶段出现低促性腺激素性性功能减退(hypogolladotropic by pogonadism,HHG)。这种HHG还可以有下丘脑垂体其它功能障碍。GnH对GnRH刺激反应往往较差。在Ahch(Dax1)基因敲除小鼠有生精功能障碍。在人类Dax1缺陷可影响Sertoli细胞功能。本文主要讨论X连锁AHC的临床表现,并阐述Dax1的结构、在AHC/HHG中的病理生理作用。最后,就本病的检测及治疗进行探讨。学习目的:1.认识Dax1基因突变与AHC及HHG的关系。2.复习X连锁AHC的典型及不典型性临床表现。3.了解如何对Dax1患者家属进行筛查。 | John C Achermann,MD 陶红 等 | 2001 | 世界医学杂志2001，5，10： | 0 |
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