B. Carlsson

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.

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

D. Bowers, N. Dahl, E. D. de Bont, 1999, Human Genetics.

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.

S. Bione, D. Toniolo, J. Peluso, 2008, Human molecular genetics.

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

C. Blomström-Lundqvist, E. Stålberg, G. Wikström, 1999, Annals of neurology.

Cholesterol synthesis in patients with glutathione deficiency

A. Larsson, B. Carlsson, J. Gustafsson, 1990, European journal of clinical investigation.

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

D. Bowers, N. Dahl, E. D. de Bont, 1999, Human Genetics.

Cross Talks in Swiss Psychiatry. 26th Annual Meeting of the Swiss Society of Biological Psychiatry

C. Gillberg, C. Betancur, S. Tuinier, 2006, Neuropsychobiology.

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Peter Gustavsson, Hans Matsson, I. Dianzani, 1999, Nature Genetics.

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

E. Stålberg, G. Wikström, N. Dahl, 1999 .

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity

J. Ludvigsson, B. Åsling, G. Annéren, 2005, European Journal of Human Genetics.

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population

H. Stefánsson, N. Dahl, E. Holmberg, 2009, American journal of medical genetics. Part A.

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.

A. Poustka, J. Mandel, J. Laporte, 1997, Genomics.

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.

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.

M. Parker, B. Mannervik, S. Norgren, 2000, The Biochemical journal.

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Peter Gustavsson, C. Larsson, N. Dahl, 2005, European Journal of Human Genetics.

A candidate region for Asperger syndrome defined by two 17p breakpoints

C. Gillberg, D. Tentler, M. Johansson, 2003, European Journal of Human Genetics.

5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder

M. Henderson, A. Larsson, P. Dear, 1993, Journal of Inherited Metabolic Disease.

Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency

A. Larsson, L. Grillner, Yves Léonce Mardens, 1997, European Journal of Pediatrics.

Constitutional down-regulation of SEMA 5 A expression in autism

C. Gillberg, C. Betancur, A. Isaksson, 2016 .

Constitutional Downregulation of SEMA5A Expression in Autism

C. Gillberg, C. Betancur, A. Isaksson, 2006, Neuropsychobiology.

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.

C. Gillberg, C. Betancur, E. Green, 2001, American journal of medical genetics.

Impaired Synthesis of Lipoxygenase Products in Glutathione Synthetase Deficiency

E. Mayatepek, A. Larsson, G. Hoffmann, 1994, Pediatric Research.

Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation

G. Annéren, N. Dahl, G. Läckgren, 2006, Human Genetics.