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[Ocular manifestations in diseases caused by aberrations in non-sexual chromosomes].

作者信息

Saraux H

出版信息

J Med Genet. 1970 Sep;7(3):227-38. doi: 10.1136/jmg.7.3.227.

DOI:10.1136/jmg.7.3.227
PMID:4249879
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468888/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/038896aa33ed/jmedgene00370-0047-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/c31df426fa24/jmedgene00370-0038-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/4fa98558bde0/jmedgene00370-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/7c24b94e6d09/jmedgene00370-0039-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/8ad5462edd1f/jmedgene00370-0039-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/d0945eb4dc1f/jmedgene00370-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/68363411cc77/jmedgene00370-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/f8e57a0b736b/jmedgene00370-0042-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/a56be6aa1b91/jmedgene00370-0042-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1c706e761c76/jmedgene00370-0042-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/53864b126a31/jmedgene00370-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/4f00ace7713f/jmedgene00370-0044-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/5ffce000c863/jmedgene00370-0044-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1f4186bef772/jmedgene00370-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1124d50c7082/jmedgene00370-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1802aa7d2a67/jmedgene00370-0046-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1a42a66be85d/jmedgene00370-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/038896aa33ed/jmedgene00370-0047-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/c31df426fa24/jmedgene00370-0038-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/4fa98558bde0/jmedgene00370-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/7c24b94e6d09/jmedgene00370-0039-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/8ad5462edd1f/jmedgene00370-0039-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/d0945eb4dc1f/jmedgene00370-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/68363411cc77/jmedgene00370-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/f8e57a0b736b/jmedgene00370-0042-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/a56be6aa1b91/jmedgene00370-0042-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1c706e761c76/jmedgene00370-0042-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/53864b126a31/jmedgene00370-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/4f00ace7713f/jmedgene00370-0044-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/5ffce000c863/jmedgene00370-0044-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1f4186bef772/jmedgene00370-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1124d50c7082/jmedgene00370-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1802aa7d2a67/jmedgene00370-0046-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/1a42a66be85d/jmedgene00370-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/222c/1468888/038896aa33ed/jmedgene00370-0047-b.jpg

相似文献

1
[Ocular manifestations in diseases caused by aberrations in non-sexual chromosomes].[非性染色体畸变所致疾病的眼部表现]
J Med Genet. 1970 Sep;7(3):227-38. doi: 10.1136/jmg.7.3.227.
2
II. A review of clinical syndromes associated with aberrations of the autosomes.二、常染色体畸变相关临床综合征综述。
J Tenn Med Assoc. 1971 Apr;64(4):310-7.
3
Autosomal chromosome aberrations in ophthalmology.眼科中的常染色体畸变。
J Neurol Sci. 1967 May-Jun;4(3):511-58. doi: 10.1016/0022-510x(67)90034-2.
4
Autosomal chromosome aberrations in ophthalmology.眼科中的常染色体畸变。
Int Ophthalmol Clin. 1968 Winter;8(4):839-910.
5
[The autosomal chromosome aberrations in ophthalmology].[眼科中的常染色体畸变]
J Genet Hum. 1966;15:Suppl:133-208.
6
[Autosomal chromosome aberrations].[常染色体畸变]
Bord Med. 1971 May;4(5):1373-416.
7
[Skeletal malformations caused by chromosome aberrations. Clinical and radiological study].
Minerva Med. 1972 Dec 22;63(92):5049-208.
8
[The intelligence level in the chromosome aberrations affecting autosomes].[影响常染色体的染色体畸变中的智力水平]
Rev Neuropsychiatr Infant. 1970 Dec;18(12):943-66.
9
Cytogenetics and the pathologist.细胞遗传学与病理学家
Pathol Annu. 1975;10:93-144.
10
New techniques in the study of human chromosomes: methods and applications.
Adv Hum Genet. 1975;5:119-56. doi: 10.1007/978-1-4615-9068-2_2.

本文引用的文献

1
Multiple congenital anomaly caused by an extra autosome.由额外常染色体引起的多重先天性异常。
Lancet. 1960 Apr 9;1(7128):790-3. doi: 10.1016/s0140-6736(60)90676-0.
2
CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.先天性虹膜缺损和肛门闭锁中的染色体
Lancet. 1965 Aug 7;2(7406):290. doi: 10.1016/s0140-6736(65)92415-3.
3
[MICROPHTHALMIA AND TRISOMY D].[小眼症与13号染色体三体综合征] （注：原文中“TRISOMY D”可能有误，推测为“TRISOMY 13”即13号染色体三体综合征，一般表述为“[小眼症与13号染色体三体综合征]” ，但按照要求未添加额外解释，仅供参考）
Bull Soc Belge Ophtalmol. 1964;137:294-302.
4
[TRISOMY 13 AND ITS OPHTHALMOLOGIC EXPRESSION].[13三体综合征及其眼部表现]
Arch Ophtalmol Rev Gen Ophtalmol. 1964 Oct-Nov;24:581-601.
5
[CHROMOSOME ANOMALIES IN A NEWBORN INFANT WITH RENOFACIAL DYSPLASIA. RECIPROCAL TRANSLOCATION BETWEEN ACROCENTRIC CHROMOSOMES OF GROUP D (13-15)].[患有面肾发育不全的新生儿的染色体异常。D组近端着丝粒染色体（13 - 15）之间的相互易位]
Dtsch Med Wochenschr. 1964 Nov 13;89:2192-5. doi: 10.1055/s-0028-1113259.
6
[TRISOMY 13-15].[13 - 15三体综合征]
Arch Fr Pediatr. 1964 Jun-Jul;21:661-86.
7
OCULAR PATHOLOGY OF THE 13-15 TRISOMY SYNDROME.13-15三体综合征的眼部病理学
Arch Ophthalmol. 1964 Aug;72:246-53. doi: 10.1001/archopht.1964.00970020246021.
8
[PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME 5. INDIVIDUALIZATION OF A NEW MORBID STATE].
Sem Hop. 1964 Apr 14;40:1069-79.
9
TRISOMY 13-15. REPORT OF A CASE WITH CLINICAL, CYTOGENETIC AND PATHOLOGIC FINDINGS.13 - 15三体综合征。1例伴有临床、细胞遗传学及病理学检查结果的病例报告。
Acta Pathol Microbiol Scand. 1964;60:36-46. doi: 10.1111/apm.1964.60.1.36.
10
Two cases of multiple malformations with an autosomal chromosomal aberration- partial trisomy D?两例伴有常染色体畸变——D部分三体的多发畸形病例？
Helv Paediatr Acta. 1962;17:290-300.