A recurring FBN1 gene mutation in neonatal Marfan syndrome.
about
Necrotic gangrenous intrathoracic appendix in a marfanoid adult patient: a case reportTissue elasticity and the ageing elastic fibre.Genetic causes of congenital diaphragmatic herniaUpdate of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.Single gene disorders associated with congenital diaphragmatic hernia.Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationNovel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia.Aberrant fibrillin-1 expression in early emphysematous human lung: a proposed predisposition for emphysema.Delayed presentation of Morgagni hernia in a patient with Marfan syndrome.Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome
P2860
Q24804060-5C6438ED-F408-44B9-B5F7-0F6A4DBAF010Q30478322-D08A5A02-BA11-4F4A-AA00-B937C4D82E8CQ34657017-13FF6836-7D32-451C-B67D-4D15E21C606DQ35205978-6F3376D7-F7F0-4898-B01E-EDA03C1EE317Q36792705-702EC5D3-6B41-4CC0-BC8E-B1C70D4E1302Q37325957-788622DF-EF99-4D3A-A5C3-E1CECBFD63C8Q39743728-DC3A4A1F-45B9-4E5A-9FE4-AA2EBD874863Q41440531-6492402C-F52F-4819-A857-C4A2C8B7B18DQ42821154-31A4D8A1-E9A8-4D35-81F8-07DA78ADA3C3Q47861010-8297998A-544C-458F-A9BC-E846DEA7D1E8Q52584073-8873E43B-004E-4B5D-8043-B20673D69884Q53309484-C079BBBD-4B7B-4A54-9378-7E76D6BB2238Q53565277-FC4910A5-5F41-4320-A52A-D8CFDAC03A41Q56688676-3F77F6A9-2E5B-44E2-8722-71E184923DC3
P2860
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
@en
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
@nl
type
label
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
@en
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
@nl
prefLabel
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
@en
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
@nl
P2093
P1433
P1476
A recurring FBN1 gene mutation in neonatal Marfan syndrome.
@en
P2093
Alan Shanske
Amanda M Jacobs
Andrew Racine
Ivanka Toudjarska
Michael W Kilpatrick
Petros Tsipouras
P304
P356
10.1001/ARCHPEDI.156.11.1081
P407
P577
2002-11-01T00:00:00Z