Katarina Lindahl

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Lindahl, Katarina; Astrom, Eva; Dragomir, Anca; Symoens, Sofie et al.

Ingår i Bone, s. 268-277, 2018

• DOI för Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study

Andersson, Kristofer; Dahllöf, Goran; Lindahl, Katarina; Kindmark, Andreas et al.

Ingår i PLOS ONE, 2017

• DOI för Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study
• Ladda ner fulltext (pdf) av Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study

Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes

Malmgren, B.; Andersson, K.; Lindahl, Katarina; Kindmark, Andreas et al.

Ingår i Oral Diseases, s. 42-49, 2017

• DOI för Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes

Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate

Lindahl, Katarina; Kindmark, Andreas; Rubin, Carl-Johan; Malmgren, B. et al.

Ingår i Bone, s. 11-18, 2016

• DOI för Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

Lindahl, Katarina; Astrom, Eva; Rubin, Carl-Johan; Grigelioniene, Giedre et al.

Ingår i European Journal of Human Genetics, s. 1042-1050, 2015

• DOI för Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Lindahl, Katarina; Astrom, Eva; Dragomir, Anca; Symoens, Sofie et al.

Ingår i Bone, s. 268-277, 2018

• DOI för Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study

Andersson, Kristofer; Dahllöf, Goran; Lindahl, Katarina; Kindmark, Andreas et al.

Ingår i PLOS ONE, 2017

• DOI för Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study
• Ladda ner fulltext (pdf) av Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study

Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes

Malmgren, B.; Andersson, K.; Lindahl, Katarina; Kindmark, Andreas et al.

Ingår i Oral Diseases, s. 42-49, 2017

• DOI för Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes

Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate

Lindahl, Katarina; Kindmark, Andreas; Rubin, Carl-Johan; Malmgren, B. et al.

Ingår i Bone, s. 11-18, 2016

• DOI för Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

Lindahl, Katarina; Astrom, Eva; Rubin, Carl-Johan; Grigelioniene, Giedre et al.

Ingår i European Journal of Human Genetics, s. 1042-1050, 2015

• DOI för Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

Allele Dependent Silencing of Collagen Type I Using Small Interfering RNAs Targeting 3'UTR Indels: a Novel Therapeutic Approach in Osteogenesis Imperfecta

Lindahl, Katarina; Kindmark, Andreas; Laxman, Navya; Åström, Eva et al.

Ingår i International Journal of Medical Sciences, s. 1333-1343, 2013

• DOI för Allele Dependent Silencing of Collagen Type I Using Small Interfering RNAs Targeting 3'UTR Indels: a Novel Therapeutic Approach in Osteogenesis Imperfecta
• Ladda ner fulltext (pdf) av Allele Dependent Silencing of Collagen Type I Using Small Interfering RNAs Targeting 3'UTR Indels: a Novel Therapeutic Approach in Osteogenesis Imperfecta

Genotype-phenotype correlations and pharmacogenetic studies in 140 Swedish families with osteogenesis imperfecta

Lindahl, Katarina; Rubin, Carl-Johan; Astrom, E.; Malmgren, B. et al.

Ingår i Bone, 2012

• DOI för Genotype-phenotype correlations and pharmacogenetic studies in 140 Swedish families with osteogenesis imperfecta

COL1 C-Propeptide Cleavage Site Mutations Cause High Bone Mass Osteogenesis Imperfecta

Lindahl, Katarina; Barnes, Aileen M.; Fratzl-Zelman, Nadja; Whyte, Michael P. et al.

Ingår i Human Mutation, s. 598-609, 2011

• DOI för COL1 C-Propeptide Cleavage Site Mutations Cause High Bone Mass Osteogenesis Imperfecta

Allele-specific gene silencing in osteogenesis imperfecta

Ljunggren, Östen; Lindahl, Katarina; Rubin, Carl-Johan; Kindmark, Andreas

Ingår i Endocrine Development, s. 85-90, 2011

• DOI för Allele-specific gene silencing in osteogenesis imperfecta

Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk

Lindahl, Katarina; Rubin, Carl-Johan; Brändström, Helena; Karlsson, Magnus K. et al.

Ingår i Biochemical and Biophysical Research Communications - BBRC, s. 501-505, 2009

• DOI för Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk

Allele dependent silencing of COL1A2 using small interfering RNAs

Lindahl, Katarina; Rubin, Carl-Johan; Kindmark, Andreas; Ljunggren, Östen

Ingår i International Journal of Medical Sciences, s. 361-365, 2008

Therapy of Endocrine Disease: Treatment of osteogenesis imperfecta in adults

Lindahl, Katarina; Langdahl, Bente; Ljunggren, Östen; Kindmark, Andreas

Ingår i European Journal of Endocrinology, 2014

• DOI för Therapy of Endocrine Disease: Treatment of osteogenesis imperfecta in adults

Osteogenesis Imperfecta: Genetic and Therapeutic Studies

Lindahl, Katarina

2013

• Ladda ner fulltext (pdf) av Osteogenesis Imperfecta: Genetic and Therapeutic Studies

Allele-Specific Gene Silencing in Osteogenesis Imperfecta

Ljunggren, Östen; Lindahl, Katarina; Rubin, Carl-Johan; Kindmark, Andreas

Ingår i Cartilage and Bone Development and Its Disorders, s. 85-90, 2011