Publications:

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.

Acta Neuropathologica Communications

Wang, Haicui H; Schänzer, Anne A; Kampschulte, Birgit B; Daimagüler, Hülya-Sevcan HS; Logeswaran, Thushiha T; Schlierbach, Hannah H; Petzinger, Jutta J; Ehrhardt, Harald H; Hahn, Andreas A; Cirak, Sebahattin S

Publication Date: 2018-08-29

Variant appearance in text: rs758135673

PubMed Link: 30157964

Variant Present in the following documents:

• 40478_2018_589_MOESM1_ESM.pdf

View BVdb publication page

MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

International Journal Of Cancer

Cust, Anne E AE; Goumas, Chris C; Holland, Elizabeth A EA; Agha-Hamilton, Chantelle C; Aitken, Joanne F JF; Armstrong, Bruce K BK; Giles, Graham G GG; Kefford, Richard F RF; Schmid, Helen H; Hopper, John L JL; Mann, Graham J GJ; Jenkins, Mark A MA

Publication Date: 2012-08-01

Variant appearance in text: MC1R: R34R

PubMed Link: 22095472

Variant Present in the following documents:

• Main text

View BVdb publication page

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Journal Of The National Cancer Institute

Demenais, F F; Mohamdi, H H; Chaudru, V V; Goldstein, A M AM; Newton Bishop, J A JA; Bishop, D T DT; Kanetsky, P A PA; Hayward, N K NK; Gillanders, E E; Elder, D E DE; Avril, M F MF; Azizi, E E; van Belle, P P; Bergman, W W; Bianchi-Scarrà, G G; Bressac-de Paillerets, B B; Calista, D D; Carrera, C C; Hansson, J J; Harland, M M; Hogg, D D; Höiom, V V; Holland, E A EA; Ingvar, C C; Landi, M T MT; Lang, J M JM; Mackie, R M RM; Mann, G J GJ; Ming, M E ME; Njauw, C J CJ; Olsson, H H; Palmer, J J; Pastorino, L L; Puig, S S; Randerson-Moor, J J; Stark, M M; Tsao, H H; Tucker, M A MA; van der Velden, P P; Yang, X R XR; Gruis, N N; ,

Publication Date: 2010-10-20

Variant appearance in text: MC1R: R34R

PubMed Link: 20876876

Variant Present in the following documents:

• Main text
• supp_djq363_JNCI-09-1449R-Suppl_tables.pdf
• djq363.pdf

View BVdb publication page