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Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia.

作者信息

Gimelli S, Cuoco C, Ronchetto P, Gimelli G, Tassano E

机构信息

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

出版信息

J Appl Genet. 2013 Aug;54(3):361-5. doi: 10.1007/s13353-013-0150-4. Epub 2013 May 5.

DOI:10.1007/s13353-013-0150-4
PMID:23645319
Abstract
摘要

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本文引用的文献

1
Thyroid physiology.甲状腺生理学。
Med Clin North Am. 2012 Mar;96(2):165-73. doi: 10.1016/j.mcna.2012.01.007. Epub 2012 Feb 1.
2
Deiodinases: the balance of thyroid hormone: local control of thyroid hormone action: role of type 2 deiodinase.脱碘酶：甲状腺激素的平衡：甲状腺激素作用的局部控制：2 型脱碘酶的作用。
J Endocrinol. 2011 Jun;209(3):261-72. doi: 10.1530/JOE-10-0448. Epub 2011 Feb 3.
3
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.对 86 例眼耳脊椎发育不良患者进行 array-CGH 分析。
Am J Med Genet A. 2010 Aug;152A(8):1984-9. doi: 10.1002/ajmg.a.33491.
4
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.儿科非自身免疫亚临床甲状腺功能减退症患者促甲状腺激素受体基因分析。
J Clin Endocrinol Metab. 2009 Nov;94(11):4187-94. doi: 10.1210/jc.2009-0618. Epub 2009 Oct 9.
5
Flrt2 and Flrt3 have overlapping and non-overlapping expression during craniofacial development.在颅面发育过程中，Flrt2和Flrt3具有重叠和非重叠的表达。
Gene Expr Patterns. 2009 Oct;9(7):497-502. doi: 10.1016/j.gep.2009.07.009. Epub 2009 Jul 25.
6
Ultraconserved elements: genomics, function and disease.超保守元件：基因组学、功能与疾病
RNA Biol. 2008 Jul-Sep;5(3):132-4. doi: 10.4161/rna.5.3.6673. Epub 2008 Jul 25.
7
A child with deletion (14)(q24.3q32.13) and auditory neuropathy.
Am J Med Genet A. 2008 Jan 1;146A(1):117-23. doi: 10.1002/ajmg.a.32064.
8
Regulated expression of FLRT genes implies a functional role in the regulation of FGF signalling during mouse development.FLRT基因的调控表达意味着在小鼠发育过程中对FGF信号传导的调节具有功能性作用。
Dev Biol. 2006 Sep 1;297(1):14-25. doi: 10.1016/j.ydbio.2006.04.004. Epub 2006 Apr 21.
9
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.眼-耳-脊椎综合征（OAVS）：53例患者的临床评估与严重程度评分及新分类建议
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10
Conserved non-genic sequences - an unexpected feature of mammalian genomes.保守的非基因序列——哺乳动物基因组的一个意外特征。
Nat Rev Genet. 2005 Feb;6(2):151-7. doi: 10.1038/nrg1527.