Maritta Hellström Pigg

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Amanda B. Spurdle, Phillip J Whiley, Bryony A. Thompson et al. · Journal of Medical Genetics · 2012 · 116 citations · Full text

Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study

Britta Berglund, Carina Pettersson, Maritta Hellström Pigg et al. · BMC Musculoskeletal Disorders · 2015 · 94 citations · Full text

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

Maritta Hellström Pigg, Anette Bygum, Agneta Gånemo et al. · Acta Dermato Venereologica · 2016 · 89 citations · Full text

Congenital ichthyosis: mutations in <i>ichthyin</i> are associated with specific structural abnormalities in the granular layer of epidermis

Johanna Dahlqvist, Joakim Klar, I. Anton‐Lamprecht et al. · Journal of Medical Genetics · 2007 · 72 citations · Full text

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

Maritta Hellström Pigg, Tobias Gedde‐Dahl, Diane W. Cox et al. · European Journal of Human Genetics · 1998 · 56 citations · Full text

Strong Founder Effect, Developmental Biology, Genetic Disorder +9