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Items: 11

1.

Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer.

Dalva M, El Jellas K, Steine SJ, Johansson BB, Ringdal M, Torsvik J, Immervoll H, Hoem D, Laemmerhirt F, Simon P, Lerch MM, Johansson S, Njølstad PR, Weiss FU, Fjeld K, Molven A.

Pancreatology. 2017 Jan - Feb;17(1):83-88. doi: 10.1016/j.pan.2016.10.006. Epub 2016 Oct 11.

PMID:
27773618
2.

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.

Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grützmann R, Mayerle J, Mössner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Férec C, Witt H, Lerch MM, Njølstad PR, Johansson S, Molven A.

Nat Genet. 2015 May;47(5):518-22. doi: 10.1038/ng.3249. Epub 2015 Mar 16.

3.

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.

Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, Catricalà C, Dalle S, Duval-Modeste AB, Ghiorzo P, Grammatico P, Harland M, Hayward NK, Hu HH, Jouary T, Martin-Denavit T, Ozola A, Palmer JM, Pastorino L, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Thomas L, Tinat J, Tsao H, Veinalde R, Tucker MA, Bressac-de Paillerets B, Newton-Bishop JA, Goldstein AM, Akslen LA, Molven A.

J Med Genet. 2013 Apr;50(4):264-70. doi: 10.1136/jmedgenet-2012-101455. Epub 2013 Feb 5. Erratum in: J Med Genet. 2014 Mar;51(3):214.

4.

[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].

Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE.

Tidsskr Nor Laegeforen. 2009 Nov 19;129(22):2358-61. doi: 10.4045/tidsskr.09.0267. Norwegian.

5.

pRb2/p130 protein expression and RBL2 mutation analysis in Burkitt lymphoma from Uganda.

Kalungi S, Steine SJ, Wabinga H, Bostad L, Molven A.

BMC Clin Pathol. 2009 Aug 19;9:6. doi: 10.1186/1472-6890-9-6.

6.

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Søvik O, Schubbert S, Houge G, Steine SJ, Norgård G, Engelsen B, Njølstad PR, Shannon K, Molven A.

BMJ Case Rep. 2009;2009. pii: bcr07.2008.0550. doi: 10.1136/bcr.07.2008.0550. Epub 2009 Jan 23.

7.

Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas.

Helsing P, Nymoen DA, Ariansen S, Steine SJ, Maehle L, Aamdal S, Langmark F, Loeb M, Akslen LA, Molven A, Andresen PA.

Genes Chromosomes Cancer. 2008 Feb;47(2):175-84.

PMID:
18023021
8.

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Søvik O, Schubbert S, Houge G, Steine SJ, Norgård G, Engelsen B, Njølstad PR, Shannon K, Molven A.

J Med Genet. 2007 Jul;44(7):e84.

9.

Molecular analysis of the EGFR-RAS-RAF pathway in pancreatic ductal adenocarcinomas: lack of mutations in the BRAF and EGFR genes.

Immervoll H, Hoem D, Kugarajh K, Steine SJ, Molven A.

Virchows Arch. 2006 Jun;448(6):788-96. Epub 2006 Apr 6.

PMID:
16598499
10.

Molecular analysis of the PI3K-AKT pathway in uterine cervical neoplasia: frequent PIK3CA amplification and AKT phosphorylation.

Bertelsen BI, Steine SJ, Sandvei R, Molven A, Laerum OD.

Int J Cancer. 2006 Apr 15;118(8):1877-83.

11.

A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.

Molven A, Grimstvedt MB, Steine SJ, Harland M, Avril MF, Hayward NK, Akslen LA.

Genes Chromosomes Cancer. 2005 Sep;44(1):10-8.

PMID:
15880589

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