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1
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.
Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264.
4
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
Eur J Hum Genet. 2007 Sep;15(9):930-5. doi: 10.1038/sj.ejhg.5201865. Epub 2007 Jun 13.
6
Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.
Braz J Med Biol Res. 2011 Aug;44(8):793-800. doi: 10.1590/s0100-879x2011007500095. Epub 2011 Jul 29.
9
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.
Hum Genet. 2007 Aug;122(1):23-32. doi: 10.1007/s00439-007-0371-x. Epub 2007 May 10.
10
[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome].
Z Kardiol. 2000 Oct;89(10):939-48. doi: 10.1007/s003920070168.

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Refractive Alterations in Marfan Syndrome: A Narrative Review.
Medicina (Kaunas). 2025 Feb 1;61(2):250. doi: 10.3390/medicina61020250.
2
The Molecular Genetics of Marfan Syndrome.
Int J Med Sci. 2021 May 27;18(13):2752-2766. doi: 10.7150/ijms.60685. eCollection 2021.
3
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.
Sci Rep. 2018 Aug 29;8(1):13019. doi: 10.1038/s41598-018-31298-5.
4
Current evidence and insights about genetics in thoracic aorta disease.
ScientificWorldJournal. 2013 Dec 24;2013:962097. doi: 10.1155/2013/962097. eCollection 2013.
5
Genetic alterations in syndromes with oral manifestations.
Dent Res J (Isfahan). 2013 Nov;10(6):713-22.
6
Genetics of thoracic aortic aneurysms.
Curr Atheroscler Rep. 2012 Jun;14(3):219-26. doi: 10.1007/s11883-012-0241-4.
7
TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.
J Negat Results Biomed. 2012 Feb 2;11:9. doi: 10.1186/1477-5751-11-9.
8
Reply to "The question of heterogeneity in Marfan syndrome".
Nat Genet. 1995 Mar;9(3):230-231. doi: 10.1038/ng0395-230.
9
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
Eur J Hum Genet. 2010 Nov;18(11):1236-42. doi: 10.1038/ejhg.2010.94. Epub 2010 Jun 23.
10
Genetic testing in aortic aneurysm disease: PRO.
Cardiol Clin. 2010 May;28(2):191-7. doi: 10.1016/j.ccl.2010.01.017.

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The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue.
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Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 6.
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Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 16.
Mamm Genome. 1993;4 Spec No:S223-9. doi: 10.1007/BF00360842.
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Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 9.
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