M. Pigg

发表

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

B. Mannervik, A. Larsson, N. Dahl, 1997, Human molecular genetics.

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

P. Kristiansson, M. Pigg, B. Berglund, 2015, BMC Musculoskeletal Disorders.

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

N. Dahl, A. Gånemo, A. Vahlquist, 2007, Journal of Medical Genetics.

The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases.

P. Westermark, A. Gånemo, M. Virtanen, 2003, Acta dermato-venereologica. Supplementum.

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

C. Wadelius, K. Gustavson, M. Pigg, 1999, Acta dermato-venereologica.

The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic association

J. Weissenbach, C. Wadelius, K. Gustavson, 1994, Nature Genetics.

Fatal Bleeding following Delivery: A Manifestation of the Vascular Type of Ehlers-Danlos’ Syndrome

M. Björck, D. Bergqvist, B. Kragsterman, 2006, Gynecologic and Obstetric Investigation.

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

J. Fischer, A. Gånemo, M. Virtanen, 2016, Acta dermato-venereologica.

Reply to Nellen et al's comment on the classification of clinical/genetic variants of Mal de Meleda.

M. Virtanen, A. Vahlquist, Lin-shu Zhao, 2015, Acta dermato-venereologica.

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

D. Cox, N. Dahl, I. Hausser, 1998, European Journal of Human Genetics.

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

F. Couch, J. Benítez, A. Spurdle, 2012, Journal of Medical Genetics.

BRCA 1 R 1699 Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

F. Couch, A. Spurdle, Å. Borg, 2012 .

Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients.

P. Westermark, N. Dahl, A. Gånemo, 2003, Acta dermato-venereologica.

Hemophilia B in a 46,XX female probably caused by non‐random X inactivation

C. Wadelius, M. Anvret, N. Egberg, 1993, Clinical genetics.

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3–34.13

N. Dahl, M. Larsson, A. Vahlquist, 2004, Journal of Medical Genetics.

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

R. Fredriksson, N. Dahl, A. Vahlquist, 2006, Journal of Human Genetics.

Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.

C. Wadelius, A. Alderborn, M. Pigg, 2004, Hereditas.

Linkage analysis in properdin deficiency families: refined location in proximal Xp

C. Wadelius, A. Sjöholm, M. Sundvall, 1992, Clinical genetics.

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis

D. Cox, N. Dahl, M. Pigg, 2000, Prenatal diagnosis.

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

C. Wadelius, M. Pigg, C. Braun‐Quentin, 1999, Acta dermato-venereologica.

Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite.

L. Truedsson, A. Sjöholm, L. Tranebjaerg, 1995, Experimental and clinical immunogenetics.