Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.
作者信息
Sharland M, Taylor R, Patton M A, Jeffery S
机构信息
South West Thames Regional Genetic Service, St George's Hospital Medical School, London.
出版信息
J Med Genet. 1992 Mar;29(3):188-90. doi: 10.1136/jmg.29.3.188.
Abstract
Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects with features of both Noonan syndrome and neurofibromatosis type 1, these pedigrees have been studied using a number of probes at the neurofibromatosis type 1 locus (17q11). A significantly negative lod score was obtained with the intragenic probe NF1-C2, suggesting that the genes for Noonan syndrome and neurofibromatosis type 1 are not contiguous.
摘要
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本文引用的文献
1
Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father.
Clin Genet. 1981 Dec;20(6):428-31. doi: 10.1111/j.1399-0004.1981.tb01053.x.
2
A comprehensive scoring system for evaluating Noonan syndrome.
Am J Med Genet. 1981;10(1):37-50. doi: 10.1002/ajmg.1320100106.
3
Strategies for multilocus linkage analysis in humans.
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
4
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.
Nucleic Acids Res. 1982 Mar 11;10(5):1557-78. doi: 10.1093/nar/10.5.1557.
5
"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.
Anal Biochem. 1984 Feb;137(1):266-7. doi: 10.1016/0003-2697(84)90381-6.
6
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
Arch Dis Child. 1967 Jun;42(223):303-7. doi: 10.1136/adc.42.223.303.
7
Noonan syndrome: the changing phenotype.
Am J Med Genet. 1985 Jul;21(3):507-14. doi: 10.1002/ajmg.1320210313.
8
The neurofibromatosis-Noonan syndrome.
Am J Med Genet. 1985 Jul;21(3):477-90. doi: 10.1002/ajmg.1320210310.
9
The neurofibromatosis-Noonan syndrome.
Am J Med Genet. 1985 Jul;21(3):471-6. doi: 10.1002/ajmg.1320210309.
10
A distinctive facial appearance in neurofibromatosis von Recklinghausen.
Am J Med Genet. 1985 Jul;21(3):463-70. doi: 10.1002/ajmg.1320210308.
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