Recent advances in ophthalmic genetics. Genetic counselling.
作者信息
Jay B
出版信息
Br J Ophthalmol. 1974 Apr;58(4):427-37. doi: 10.1136/bjo.58.4.427.
Abstract
摘要
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Recent advances in ophthalmic genetics. Genetic counselling.眼科遗传学的最新进展。遗传咨询。
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On the heredity of retinitis pigmentosa.关于视网膜色素变性的遗传
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2
Lanthony's new color test--part III. The neutral zone.兰托尼新色觉测试——第三部分。中性区。
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本文引用的文献
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A Rare Disease in Two Brothers.两兄弟患同一种罕见病。
Proc R Soc Med. 1917;10(Sect Study Dis Child):104-16. doi: 10.1177/003591571701001833.
2
Pituitary exophthalmos; an assessment of methods of treatment.
Br J Ophthalmol. 1952 Jan;36(1):1-19. doi: 10.1136/bjo.36.1.1.
3
Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote.性连锁眼白化病在女性杂合子中表现出典型的眼底改变。
Am J Ophthalmol. 1951 May;34(5 2):41-50. doi: 10.1016/0002-9394(51)90007-4.
4
A newly recognized forme fruste of Hurler's disease (gargoylism).一种新发现的胡勒氏病（黏多糖贮积症Ⅰ型）的顿挫型。
Am J Ophthalmol. 1962 May;53:753-69.
5
THE X-LINKED RECESSIVE INHERITANCE OF ATYPICAL MONOCHROMATISM.
Arch Ophthalmol. 1965 Sep;74:327-33. doi: 10.1001/archopht.1965.00970040329007.
6
Tyrosinase activity in melanocytes of human albinos.人类白化病患者黑素细胞中的酪氨酸酶活性。
J Invest Dermatol. 1961 Jul;37:73-6.
7
Histologic aspect of corneal changes; due to hereditary, metabolic, and cutaneous affections.角膜变化的组织学表现；由遗传、代谢和皮肤疾病引起。
Am J Ophthalmol. 1959 May;47(5 Pt 2):191-202.
8
[Recessive, sex-limited microphthalmia with multiple abnormalities].[隐性、性别受限的小眼畸形伴多种异常]
Z Kinderheilkd. 1955;77(4):384-90.
9
Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland.瑞士视网膜色素变性及相关疾病的遗传学与流行病学调查
J Neurol Sci. 1965 Mar-Apr;2(2):183-96. doi: 10.1016/0022-510x(65)90079-1.
10
Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism.伴有白化病的性连锁遗传性耳聋综合征女性携带者的听力障碍。
J Med Genet. 1969 Jun;6(2):132-4. doi: 10.1136/jmg.6.2.132.
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