Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome:A nationwide study

Autor: Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise‐Lotte Christensen, Charlotte Kvist Lautrup, Jane Hübertz Frederiksen, Lone Sunde, Lilian Bomme Ousager, Ken Ljungmann, Birgitte Bertelsen, John Gásdal Karstensen

Publikováno v: Jelsig, A M, van Overeem Hansen, T, Gede, L B, Qvist, N, Christensen, L-L, Lautrup, C K, Frederiksen, J H, Sunde, L, Ousager, L B, Ljungmann, K, Bertelsen, B & Karstensen, J G 2023, ' Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome : A nationwide study ', Clinical Genetics . https://doi.org/10.1111/cge.14337
Jelsig, A M, van Overeem Hansen, T, Gede, L B, Qvist, N, Christensen, L-L, Lautrup, C K, Frederiksen, J H, Sunde, L, Ousager, L B, Ljungmann, K, Bertelsen, B & Karstensen, J G 2023, ' Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome : A nationwide study ', Clinical Genetics, vol. 104, no. 1, pp. 81-89 . https://doi.org/10.1111/cge.14337

Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, alt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0e28f39122f77623ae3f092734b4e7
https://vbn.aau.dk/da/publications/0767f777-bece-440f-9cc9-d9e53d80de93

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

Autor: Jana Sachwitz, Julia Angélica López-Hernández, Karen Grønskov, Lene Bjerring Gede, Irène Netchine, Zeynep Tümer, Miriam Elbracht, Thomas Eggermann, Johan T. den Dunnen

Publikováno v: Human mutation. 39(3)

Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0be05f7e342c8a591417f09a349a47c7
https://pubmed.ncbi.nlm.nih.gov/29250858

Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

Autor: Lene Bjerring, Gede, Johanne M D, Hahnemann, Zeynep, Tümer, Karen, Brøndum-Nielsen, Karen, Grønskov

Publikováno v: Prenatal diagnosis. 36(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dfae7c0c5b743a748bb67d1668a6948d
https://pubmed.ncbi.nlm.nih.gov/26590364

Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.

Autor: Jelsig, Anne Marie, van Overeem Hansen, Thomas, Gede, Lene Bjerring, Qvist, Niels, Christensen, Lise-Lotte, Lautrup, Charlotte Kvist, Ljungmann, Ken, Christensen, Louise Torp, Rønlund, Karina, Tørring, Pernille Mathiesen, Bertelsen, Birgitte, Sunde, Lone, Karstensen, John Gásdal

Publikováno v: Familial Cancer; Oct2023, Vol. 22 Issue 4, p429-436, 8p

Mechanisms for the bone anabolic effect of parathyroid hormone treatment in humans.

Autor: Aslan, Derya¹ (AUTHOR), Andersen, Mille Dahl¹ (AUTHOR), Gede, Lene Bjerring¹ (AUTHOR), de Franca, Tine Kellemann¹ (AUTHOR), Jørgensen, Sara Rubek¹ (AUTHOR), Schwarz, Peter² (AUTHOR), Jørgensen, Niklas Rye^2,3 (AUTHOR) niklas@dadlnet.dk

Publikováno v: Scandinavian Journal of Clinical & Laboratory Investigation. Feb2012, Vol. 72 Issue 1, p14-22. 9p.