Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

Robert Blatter; Benjamin Tschupp; Stefan Aretz; Inge Bernstein; Chrystelle Colas; D. Gareth Evans; Maurizio Genuardi; Frederik J. Hes; Robert Hueneburg; Heikki Jarvinen; Fiona Lalloo; Gabriela Moeslein; Laura Renkonen-Sinisalo; Nicoletta Resta; Isabel Spier; Dora Varvara; Hans Vasen; Andrew R. Latchford; Karl Heinimann

doi:10.1038/s41436-020-0826-1

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

Robert Blatter, Benjamin Tschupp, Stefan Aretz, Inge Bernstein, Chrystelle Colas, D. Gareth Evans, Maurizio Genuardi, Frederik J. Hes, Robert Hueneburg, Heikki Jarvinen, Fiona Lalloo, Gabriela Moeslein, Laura Renkonen-Sinisalo, Nicoletta Resta, Isabel Spier, Dora Varvara, Hans Vasen, Andrew R. Latchford, Karl Heinimann

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Genetics In medicine
Volym	22
Nummer	9
Sidor (från-till)	1524-1532
Antal sidor	9
ISSN	1098-3600
DOI	https://doi.org/10.1038/s41436-020-0826-1
Status	Publicerad - sep. 2020
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1038/s41436-020-0826-1

s41436-020-0826-1Slutlig publicerad version, 367 KBLicens: CC BY-NC-ND

Citera det här

Blatter, R., Tschupp, B., Aretz, S., Bernstein, I., Colas, C., Evans, D. G., Genuardi, M., Hes, F. J., Hueneburg, R., Jarvinen, H., Lalloo, F., Moeslein, G., Renkonen-Sinisalo, L., Resta, N., Spier, I., Varvara, D., Vasen, H., Latchford, A. R., & Heinimann, K. (2020). Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. Genetics In medicine, 22(9), 1524-1532. https://doi.org/10.1038/s41436-020-0826-1

@article{0d72c3b9ef2a4342a9ce6b399624bbf8,

title = "Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers",

keywords = "polyposis, juvenile polyposis syndrome, colorectal cancer, genotype-phenotype correlation, hereditary hemorrhagic telangiectasia, SMAD4, MUTATIONS, BMPR1A, PREVALENCE, PHENOTYPE, DELETIONS, GENOTYPE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Robert Blatter and Benjamin Tschupp and Stefan Aretz and Inge Bernstein and Chrystelle Colas and Evans, {D. Gareth} and Maurizio Genuardi and Hes, {Frederik J.} and Robert Hueneburg and Heikki Jarvinen and Fiona Lalloo and Gabriela Moeslein and Laura Renkonen-Sinisalo and Nicoletta Resta and Isabel Spier and Dora Varvara and Hans Vasen and Latchford, {Andrew R.} and Karl Heinimann",

year = "2020",

month = sep,

doi = "10.1038/s41436-020-0826-1",

language = "English",

volume = "22",

pages = "1524--1532",

journal = "Genetics In medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "9",

}

Blatter, R, Tschupp, B, Aretz, S, Bernstein, I, Colas, C, Evans, DG, Genuardi, M, Hes, FJ, Hueneburg, R, Jarvinen, H, Lalloo, F, Moeslein, G, Renkonen-Sinisalo, L, Resta, N, Spier, I, Varvara, D, Vasen, H, Latchford, AR & Heinimann, K 2020, 'Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers', Genetics In medicine, vol. 22, nr. 9, s. 1524-1532. https://doi.org/10.1038/s41436-020-0826-1

Disease expression in juvenile polyposis syndrome : a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. / Blatter, Robert; Tschupp, Benjamin; Aretz, Stefan et al.

I: Genetics In medicine, Vol. 22, Nr. 9, 09.2020, s. 1524-1532.

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

TY - JOUR

T1 - Disease expression in juvenile polyposis syndrome

T2 - a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

AU - Blatter, Robert

AU - Tschupp, Benjamin

AU - Aretz, Stefan

AU - Bernstein, Inge

AU - Colas, Chrystelle

AU - Evans, D. Gareth

AU - Genuardi, Maurizio

AU - Hes, Frederik J.

AU - Hueneburg, Robert

AU - Jarvinen, Heikki

AU - Lalloo, Fiona

AU - Moeslein, Gabriela

AU - Renkonen-Sinisalo, Laura

AU - Resta, Nicoletta

AU - Spier, Isabel

AU - Varvara, Dora

AU - Vasen, Hans

AU - Latchford, Andrew R.

AU - Heinimann, Karl

PY - 2020/9

Y1 - 2020/9

KW - polyposis

KW - juvenile polyposis syndrome

KW - colorectal cancer

KW - genotype-phenotype correlation

KW - hereditary hemorrhagic telangiectasia

KW - SMAD4

KW - MUTATIONS

KW - BMPR1A

KW - PREVALENCE

KW - PHENOTYPE

KW - DELETIONS

KW - GENOTYPE

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41436-020-0826-1

DO - 10.1038/s41436-020-0826-1

M3 - Article

VL - 22

SP - 1524

EP - 1532

JO - Genetics In medicine

JF - Genetics In medicine

SN - 1098-3600

IS - 9

ER -

Blatter R, Tschupp B, Aretz S, Bernstein I, Colas C, Evans DG et al. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. Genetics In medicine. 2020 sep.;22(9):1524-1532. Epub 2020 maj 13. doi: 10.1038/s41436-020-0826-1