Comprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast cancer

Outi Monni, Maarit Bärlund, Spyro Mousses, +8

Proceedings of the National Academy of Sciences

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Kristiina Avela, Marita Lipsanen‐Nyman, Niina Idänheimo, +6

Nature Genetics

Natural SciencesGeneticsProtein GeneticsDna ReplicationMolecular Biology +5

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Bru Cormand, Kristiina Avela, Helena Pihko, +5

The American Journal of Human Genetics

Neurodegenerative DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +7

17 beta-estradiol stimulates prostacyclin, but not endothelin-1, production in human vascular endothelial cells.

Tomi S. Mikkola, Pauli M. Turunen, Kristiina Avela, +3

The Journal of Clinical Endocrinology & Metabolism

Beta-estradiol StimulatesVascular HealthOxidative StressInflammationAngiogenesis +15

Large genomic rearrangements and germline epimutations in Lynch syndrome

Annette Gylling, Maaret Ridanpää, Outi Vierimaa, +10

International Journal of Cancer

Germline EpimutationsSomatic VariantGenetic DisorderMedicineGenetics +9

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Anju K. Philips, Auli Sirén, Kristiina Avela, +12

Orphanet Journal of Rare Diseases

The TRIM37 Gene Encodes a Peroxisomal RING-B-Box-Coiled-Coil Protein: Classification of Mulibrey Nanism as a New Peroxisomal Disorder

Jukka Kallijärvi, Kristiina Avela, Marita Lipsanen‐Nyman, +2

The American Journal of Human Genetics

BiologyNatural SciencesGeneticsMolecular BiologyNew Peroxisomal Disorder +5

Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome

Karen W. Gripp, Katherine Robbins, Nara Sobreira, +10

American Journal of Medical Genetics Part A

The calcium-dependent nitric oxide production of human vascular endothelial cells in preeclampsia

Arto Orpana, Kristiina Avela, Varpu Ranta, +2

American Journal of Obstetrics and Gynecology

PhysiologyEndothelial DysfunctionGynecologyVascular BiologyMicrovascular Dysfunction +3

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

Carina Wallgren‐Pettersson, Kristiina Avela, Stéphanie Marchand, +10

Neuromuscular Disorders

Mendelian DisorderGenetic DisorderGeneticsLinkage AnalysisPathology +5