Suppr超能文献

Mental retardation, unusual facies, and abnormal nails associated with a group-G ring chromosome. A case report on two unrelated cases.

作者信息

Dubowitz V, Cooke P, Colver D, Harris F

出版信息

J Med Genet. 1971 Jun;8(2):195-201. doi: 10.1136/jmg.8.2.195.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f01/1468997/d94254069ef0/jmedgene00365-0069-a.jpg

相似文献

2
Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I.
J Med Genet. 1974 Dec;11(4):389-93. doi: 10.1136/jmg.11.4.389.
3
[Deletion of the short arm of chromosome 7].
Ugeskr Laeger. 1974 Dec 30;137(1):37.
4
The Coffin-Siris syndrome: report of a family and further delineation.
Clin Genet. 1984 Oct;26(4):374-8. doi: 10.1111/j.1399-0004.1984.tb01074.x.
5
Mental retardation and congenital malformations associated with a ring chromosome 6.
Clin Genet. 1975 Mar;7(3):192-6. doi: 10.1111/j.1399-0004.1975.tb00318.x.
6
Monozygotic twins with ring chromosome 22.
J Med Genet. 1973 Mar;10(1):85-9. doi: 10.1136/jmg.10.1.85.
7
Complex chromosomal rearrangement leading to partial trisomy 22.
J Med Genet. 1980 Feb;17(1):66-8. doi: 10.1136/jmg.17.1.66.
8
Additional G-like chromosome in a malformed boy.
J Med Genet. 1971 Jun;8(2):244-9. doi: 10.1136/jmg.8.2.244.
9
[Ring G-chromosome. Report of two cases and review of literature].
Humangenetik. 1971;12(2):142-55. doi: 10.1007/BF00291470.
10
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome.
Am J Med Genet A. 2008 Feb 1;146A(3):384-8. doi: 10.1002/ajmg.a.32111.

引用本文的文献

1
Monozygotic twins with ring chromosome 22.
J Med Genet. 1973 Mar;10(1):85-9. doi: 10.1136/jmg.10.1.85.

本文引用的文献

1
Apparent monosomy of a G autosome in a Jamaican infant.
J Med Genet. 1966 Dec;3(4):290-2. doi: 10.1136/jmg.3.4.290.
2
[PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].
C R Hebd Seances Acad Sci. 1964 Nov 30;259:4187-90.
3
Autosomal monosomy in man. Complete monosomy G (21-22) in a four-and-one-half-year-old mentally retarded girl.
N Engl J Med. 1967 Oct 12;277(15):777-84. doi: 10.1056/NEJM196710122771502.
4
A child with partial deletion of a G-group autosome.
Am J Dis Child. 1967 Sep;114(3):336-9. doi: 10.1001/archpedi.1967.02090240150018.
5
A patient with 45,XX,Gminus-46,XX,Gr mosaicism.
J Med Genet. 1969 Jun;6(2):220-3. doi: 10.1136/jmg.6.2.220.
6
Monosomy G mosaicism in twonrelated children.
J Ment Defic Res. 1968 Dec;12(4):255-67.
7
A case of monosomy G?
Hereditas. 1967;57(3):356-64. doi: 10.1111/j.1601-5223.1967.tb02118.x.
8
Ring-G chromosome, a new G-deletion syndrome?
Am J Dis Child. 1968 Apr;115(4):489-93. doi: 10.1001/archpedi.1968.02100010491015.
9
Anti-mongolism. Studies in an infant with a partial monosomy of the 21 chromosome.
Lancet. 1966 Feb 19;1(7434):394-7. doi: 10.1016/s0140-6736(66)91391-2.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验