Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
about
High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.Aortic aneurysms: an immune disease with a strong genetic componentHemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyThe clinical spectrum of complete FBN1 allele deletions.New insights into the performance of human whole-exome capture platforms.Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice.First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 geneMolecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.Molecular characterization of Leber congenital amaurosis in Koreans.Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesisThe importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders.Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).Fibrillin-1 regulates the bioavailability of TGFbeta1.Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]Genetic insights into bicuspid aortic valve formation.2006 Curt Stern Award Address. Marfan syndrome: from molecules to medicines.Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.Mutations in the SLC2A10 gene cause arterial abnormalities in mice.Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population.Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
P2860
Q30554334-751C0C41-BE58-47B0-BD0E-D380BC7F8018Q31166327-04C7A9F3-8315-408E-B4B2-513922B4D049Q33772579-8661A999-6C12-499F-8A98-2CC96CEB22D6Q34035163-13872E19-0825-4894-B9F1-DD1308B9A173Q34402629-B9357554-5561-4ED2-ADC6-26078C4BCAF5Q34410196-C4950662-4493-40A0-9E37-187311A8560FQ34705212-A26D269B-6717-4E22-97E8-D5C7FB6D78EAQ35770586-E7C7C343-D500-45EA-8697-B7839D02F337Q35780325-4F981EE2-CF72-427F-83C4-324DA6D6A8F4Q35829553-06A2F84A-984A-4918-B635-C8588FCD4310Q35920090-012F181D-9DE5-42B9-A723-3AD98705E3E1Q36275442-A9195A07-5885-4A58-A5FF-548C57D5EF16Q36803695-3D604FE7-BC23-4197-B92B-1F7469E382F3Q37103999-6C85C26A-BEBA-4845-9668-EB99742A5A4DQ37228790-5A42C7A2-72A3-4271-A8A6-8D57D3565ABDQ37414964-31DAEE39-8323-47B5-9B93-1883586903BCQ38337029-3C4BDD1C-521E-4AF7-9F64-3B351E4B44A7Q38667753-B460817F-BA87-41E0-A249-FD605DBE020AQ39159707-E8AE7D19-F8EF-4429-B12C-2E524AB4FF4DQ39731896-B8708957-1A5D-4220-AF92-4FE55B0C18FEQ41537361-7E971F6C-5041-4234-A2D3-548913C9C888Q41734139-BEDD3315-CA1E-4605-B6E4-292CA0A84C67Q42196753-6F6541E6-4B04-45FA-98A5-23D4056048FEQ43007212-A67BD24E-6F80-461C-8238-C5C924F703A6Q44015838-993161F3-C252-4B8B-8D13-FFDC8363879AQ44972761-929401AD-C439-4D86-83EA-CCF1731F5DE7Q46231602-61BA0A99-25A2-4B06-8CE5-665CC3B060A9Q49052482-28A9A605-3C37-4A96-A55D-17ACC4A4F67AQ51020875-3FF14083-5D08-46EB-962F-FE70204AFE2DQ51897686-D5276537-7F69-47C4-93C9-3D80E3DC33FBQ54590326-6DC43989-6819-4FF0-9C69-C294797E5CFEQ58737576-4D5E78A0-1057-4721-955F-40FB7554F54B
P2860
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Identification and in silico a ...... an syndrome-related disorders.
@en
Identification and in silico a ...... an syndrome-related disorders.
@nl
type
label
Identification and in silico a ...... an syndrome-related disorders.
@en
Identification and in silico a ...... an syndrome-related disorders.
@nl
prefLabel
Identification and in silico a ...... an syndrome-related disorders.
@en
Identification and in silico a ...... an syndrome-related disorders.
@nl
P2093
P356
P1433
P1476
Identification and in silico a ...... an syndrome-related disorders.
@en
P2093
Beat Steinmann
Catherine Boileau
Daniela Baumgartner
Eliane Arnold
Thierry Carrel
Wolfgang Berger
P2860
P304
P356
10.1002/HUMU.20353
P50
P577
2006-08-01T00:00:00Z