Affiliation: Helsinki University Central Hospital
- [Shaken baby syndrome]Satu Kivitie-Kallio
HUS Lasten ja nuorten sairaala, sosiaalipediatrian yksikkö
Duodecim 120:2306-12. 2004
- Cohen syndrome: essential features, natural history, and heterogeneityS Kivitie-Kallio
Department of Pediatrics, Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland
Am J Med Genet 102:125-35. 2001..The manifestations vary at different ages. The Finnish Cohen patients are clinically highly homogeneous, their disease gene being located on chromosome 8. Heterogeneity probably exists among other patients claimed to have Cohen syndrome...
- Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22Paula Summanen
Department of Ophthalmology, Department of Pediatrics, Helsinki University Central Hospital, Haartmaninkatu 4C, PL 220, FIN 00029 HUS Helsinki, Finland
Invest Ophthalmol Vis Sci 43:1686-93. 2002..To analyze the mechanisms of myopia in Cohen syndrome (Mendelian Inheritance in Man [MIM] no. 216550)...
- [What should a doctor do when suspecting child abuse?]Sarimari Tupola
HUS Lasten ja nuorten sairaala, sosiaalipediatrian yksikkö, HUS
Duodecim 121:2215-20. 2005
- Neonatal outcome of 58 infants exposed to maternal buprenorphine in uteroTimo Hytinantti
Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland
Acta Paediatr 97:1040-4. 2008..To study the neonatal outcome of infants exposed to buprenorphine in utero...
- Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportJuha Kolehmainen
Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
Am J Hum Genet 72:1359-69. 2003..Homology to the Saccharomyces cerevisiae VPS13 protein suggests a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell...
- Delineation of Cohen syndrome following a large-scale genotype-phenotype screenJuha Kolehmainen
Folkhalsan Institute of Genetics, and Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Am J Hum Genet 75:122-7. 2004..This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis...
- Cohen syndrome: evaluation of its cardiac, endocrine and radiological featuresS Kivitie-Kallio
Department of Child Neurology, University of Helsinki, Hospital for Children and Adolescents, Finland
Clin Genet 56:41-50. 1999..Fingers of these patients were slender but short with a characteristic metacarpophalangeal pattern profile...
- A prospective study on buprenorphine use during pregnancy: effects on maternal and neonatal outcomeHanna Kahila
Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
Acta Obstet Gynecol Scand 86:185-90. 2007..Therefore, maintenance therapy for opioid dependence during pregnancy has been recommended to help withdrawal from street drugs, in order to improve maternal health and decrease risks to the fetus...