Publications:

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Journal Of Translational Medicine

Poninska, J K JK; Bilinska, Z T ZT; Franaszczyk, M M; Michalak, E E; Rydzanicz, M M; Szpakowski, E E; Pollak, A A; Milanowska, B B; Truszkowska, G G; Chmielewski, P P; Sioma, A A; Janaszek-Sitkowska, H H; Klisiewicz, A A; Michalowska, I I; Makowiecka-Ciesla, M M; Kolsut, P P; Stawinski, P P; Foss-Nieradko, B B; Szperl, M M; Grzybowski, J J; Hoffman, P P; Januszewicz, A A; Kusmierczyk, M M; Ploski, R R

Publication Date: 2016-05-04

Variant appearance in text: FBN1: 2231G>A; G744E

PubMed Link: 27146836

Variant Present in the following documents:

• Main text
• 12967_2016_Article_870.pdf

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: FBN1: 2231G>A

PubMed Link: 23820649

Variant Present in the following documents:

• Main text

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