Clinical genetic testing for Kallmann syndrome.
作者信息
Layman Lawrence C
出版信息
J Clin Endocrinol Metab. 2013 May;98(5):1860-2. doi: 10.1210/jc.2013-1624.
Abstract
摘要
相似文献
1
Clinical genetic testing for Kallmann syndrome.卡尔曼综合征的临床基因检测
J Clin Endocrinol Metab. 2013 May;98(5):1860-2. doi: 10.1210/jc.2013-1624.
2
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.根据临床表型对 Kallmann 综合征患者进行遗传检测的优先级排序。
J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.
3
Kallmann syndrome in women: from genes to diagnosis and treatment.女性 Kallmann 综合征：从基因到诊断与治疗。
Gynecol Endocrinol. 2013 Apr;29(4):296-300. doi: 10.3109/09513590.2012.752459. Epub 2013 Jan 31.
4
Complex genetics in idiopathic hypogonadotropic hypogonadism.特发性低促性腺激素性性腺功能减退症的复杂遗传学。
Front Horm Res. 2010;39:142-153. doi: 10.1159/000312700. Epub 2010 Apr 8.
5
[Kallmann syndrome].
Nihon Rinsho. 2006 Apr;64 Suppl 4:47-53.
6
[Advances in the studies of Kallmann syndrome].
Zhonghua Nan Ke Xue. 2006 Jul;12(7):647-9.
7
Next-generation sequencing of patients with congenital anosmia.先天性嗅觉缺失患者的下一代测序。
Eur J Hum Genet. 2017 Dec;25(12):1377-1387. doi: 10.1038/s41431-017-0014-1. Epub 2017 Nov 13.
8
[Kallmann syndrome].
Nihon Rinsho. 2006 Jun 28;Suppl 2:220-4.
9
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.胎儿期检测到伴有FGFR1和KAL1突变的卡尔曼综合征。
Orphanet J Rare Dis. 2015 Jun 9;10:71. doi: 10.1186/s13023-015-0287-9.
10
[Hypogonadotropic hypogonadism: new aspects in the regulation of hypothalamic-pituitary-gonadal axis].[低促性腺激素性性腺功能减退：下丘脑-垂体-性腺轴调节的新进展]
Ann Endocrinol (Paris). 2010 Sep;71 Suppl 1:S33-41. doi: 10.1016/S0003-4266(10)70005-6.
引用本文的文献
1
Nonobstructive azoospermia: an etiologic review.非梗阻性无精子症：病因学综述。
Asian J Androl. 2025 May 1;27(3):279-287. doi: 10.4103/aja202472. Epub 2024 Sep 6.
2
Deletion in RMST lncRNA impairs hypothalamic neuronal development in a human stem cell-based model of Kallmann Syndrome.RMST长链非编码RNA的缺失在基于人干细胞的卡尔曼综合征模型中损害下丘脑神经元发育。
Cell Death Discov. 2024 Jul 19;10(1):330. doi: 10.1038/s41420-024-02074-4.
3
X-linked recessive Kallmann syndrome: A case report.X连锁隐性卡尔曼综合征：一例报告。
World J Clin Cases. 2022 Sep 6;10(25):8990-8997. doi: 10.12998/wjcc.v10.i25.8990.
4
Next-generation sequencing of patients with congenital anosmia.先天性嗅觉缺失患者的下一代测序。
Eur J Hum Genet. 2017 Dec;25(12):1377-1387. doi: 10.1038/s41431-017-0014-1. Epub 2017 Nov 13.
5
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.一大组家庭中 Mayer-Rokitansky-Kuster-Hauser 综合征的基因分析
Fertil Steril. 2017 Jul;108(1):145-151.e2. doi: 10.1016/j.fertnstert.2017.05.017. Epub 2017 Jun 7.
6
Tooth agenesis and orofacial clefting: genetic brothers in arms?牙齿发育不全与口腔颌面部裂隙：并肩作战的遗传“兄弟”？
Hum Genet. 2016 Dec;135(12):1299-1327. doi: 10.1007/s00439-016-1733-z. Epub 2016 Oct 3.
7
The Regulation and Function of Fibroblast Growth Factor 8 and Its Function during Gonadotropin-Releasing Hormone Neuron Development.成纤维细胞生长因子8的调控、功能及其在促性腺激素释放激素神经元发育过程中的作用
Front Endocrinol (Lausanne). 2016 Sep 5;7:114. doi: 10.3389/fendo.2016.00114. eCollection 2016.
8
Genetics of Male Infertility.男性不育的遗传学
Curr Urol Rep. 2016 Oct;17(10):70. doi: 10.1007/s11934-016-0627-x.
9
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.一名患有 Mayer-Rokitansky-Kuster-Hauser 综合征的患者发生了涉及 3 号和 16 号染色体的平衡染色体易位，在 3p22.3 和 16p13.3 发现了新的候选基因。
Mol Cytogenet. 2016 Jul 30;9:57. doi: 10.1186/s13039-016-0264-6. eCollection 2016.
10
Diagnosis and Treatment of Hypopituitarism.垂体功能减退症的诊断与治疗。
Endocrinol Metab (Seoul). 2015 Dec;30(4):443-55. doi: 10.3803/EnM.2015.30.4.443.
本文引用的文献
1
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.根据临床表型对 Kallmann 综合征患者进行遗传检测的优先级排序。
J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.
2
The genetic basis of female reproductive disorders: etiology and clinical testing.女性生殖障碍的遗传学基础：病因学和临床检测。
Mol Cell Endocrinol. 2013 May 6;370(1-2):138-48. doi: 10.1016/j.mce.2013.02.016. Epub 2013 Mar 14.
3
Identification of HESX1 mutations in Kallmann syndrome.鉴定 Kallmann 综合征中的 HESX1 突变。
Fertil Steril. 2013 Jun;99(7):1831-7. doi: 10.1016/j.fertnstert.2013.01.149. Epub 2013 Mar 1.
4
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.正常嗅觉型促性腺激素低下型性腺功能减退症和卡尔曼综合征患者中双基因突变的流行率。
Fertil Steril. 2011 Dec;96(6):1424-1430.e6. doi: 10.1016/j.fertnstert.2011.09.046. Epub 2011 Oct 28.
5
Exome sequencing makes medical genomics a reality.外显子组测序使医学基因组学成为现实。
Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.
6
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.编码一种染色质重塑蛋白的CHD7基因突变会导致特发性低促性腺激素性性腺功能减退和卡尔曼综合征。
Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2.
7
Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.编码前动力蛋白-2或前动力蛋白受体-2的基因功能丧失突变会导致常染色体隐性卡尔曼综合征。
J Clin Endocrinol Metab. 2008 Oct;93(10):4113-8. doi: 10.1210/jc.2008-0958. Epub 2008 Aug 5.
8
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.双基因突变为特发性低促性腺激素性性腺功能减退的可变表型负责。
J Clin Invest. 2007 Feb;117(2):457-63. doi: 10.1172/JCI29884. Epub 2007 Jan 18.
9
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.KAL1基因突变并非人类特发性低促性腺激素性性腺功能减退的常见病因。
Mol Hum Reprod. 2007 Mar;13(3):165-70. doi: 10.1093/molehr/gal108. Epub 2007 Jan 9.
10
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.卡尔曼综合征：编码促动力蛋白-2和促动力蛋白受体-2的基因突变。
PLoS Genet. 2006 Oct 20;2(10):e175. doi: 10.1371/journal.pgen.0020175. Epub 2006 Sep 1.
Zotero 插件