scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1023659263 |
P356 | DOI | 10.1186/S12967-016-0870-4 |
P932 | PMC publication ID | 4855821 |
P698 | PubMed publication ID | 27146836 |
P50 | author | Małgorzata Szperl | Q114777459 |
Maria Franaszczyk | Q116782932 | ||
Andrzej Januszewicz | Q16528666 | ||
Rafał Płoski | Q42684599 | ||
Agnieszka Pollak | Q47162784 | ||
Zofia Bilińska | Q48861383 | ||
Mariusz Kuśmierczyk | Q55392591 | ||
Piotr Hoffman | Q56339361 | ||
Małgorzata Rydzanicz | Q57446583 | ||
Anna Klisiewicz | Q67462954 | ||
Piotr Stawiński | Q90289387 | ||
Przemysław Chmielewski | Q102150212 | ||
Grażyna T Truszkowska | Q102150213 | ||
Jacek Grzybowski | Q110727105 | ||
Hanna Janaszek-Sitkowska | Q114777450 | ||
Magdalena Makowiecka-Cieśla | Q114777458 | ||
P2093 | author name string | E Michalak | |
B Foss-Nieradko | |||
A Sioma | |||
B Milanowska | |||
E Szpakowski | |||
I Michalowska | |||
J K Poninska | |||
P Kolsut | |||
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TGFβ receptor mutations impose a strong predisposition for human allergic disease | Q37526777 | ||
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Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations | Q49144858 | ||
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Mitral valve prolapse in the general population: the benign nature of echocardiographic features in the Framingham Heart Study. | Q52944749 | ||
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene | Q55671357 | ||
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis | Q55671558 | ||
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes | Q55738656 | ||
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome | Q57150245 | ||
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2) | Q58909934 | ||
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Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene | Q77880366 | ||
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders | Q78178619 | ||
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation? | Q80121191 | ||
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory | Q80603313 | ||
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations | Q80686852 | ||
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome | Q87050240 | ||
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy | Q87250201 | ||
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 115 | |
P577 | publication date | 2016-05-04 | |
P1433 | published in | Journal of Translational Medicine | Q15716664 |
P1476 | title | Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations | |
P478 | volume | 14 |