Helena Kääriäinen

The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia (2005)

Katariina Hannula-Jouppi, Nina Kaminen-Ahola, Mikko Taipale, Ranja Eklund, Jaana Nopola-Hemmi, Helena Kääriäinen, ...

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on Chromosome...

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia (2005)

Katariina Hannula-Jouppi, Nina Kaminen-Ahola, Mikko Taipale, Ranja Eklund, Jaana Nopola-Hemmi, Helena Kääriäinen, ...

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on chromosome...

Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21

McKay, James D., Lesueur, Fabienne, Jonard, Laurence, Pastore, Alessandro, Williamson, Jan, Hoffman, Linda, ...

The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart. In...

The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia

Hannula-Jouppi, Katariina, Kaminen-Ahola, Nina, Taipale, Mikko, Eklund, Ranja, Nopola-Hemmi, Jaana, Kääriäinen, Helena, ...

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on Chromosome...

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, ...

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Hakonen, Anna H., Heiskanen, Silja, Juvonen, Vesa, Lappalainen, Ilse, Luoma, Petri T., Rantamäki, Maria, ...

Mutations in the catalytic subunit of the mitochondrial DNA polymerase γ (POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new...

Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21

McKay, James D., Lesueur, Fabienne, Jonard, Laurence, Pastore, Alessandro, Williamson, Jan, Hoffman, Linda, ...

The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart. In...

The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia

Hannula-Jouppi, Katariina, Kaminen-Ahola, Nina, Taipale, Mikko, Eklund, Ranja, Nopola-Hemmi, Jaana, Kääriäinen, Helena, ...

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on Chromosome...

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, ...

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...

Gene deletions in X-linked muscular dystrophy

Lindlöf, Mikael, Kiuru, Anne, Kääriäinen, Helena, Kalimo, Hannu, Lang, Heikki, Pihko, Helena, ...

Of the approximately 170 families with X-linked muscular dystrophy of the Duchenne (DMD) and Becker (BMD) type in Finland, we have studied 90 unrelated patients for intragenic deletions by using the...

Microsatellite Instability in Adenomas as a Marker for Hereditary Nonpolyposis Colorectal Cancer

Loukola, Anu, Salovaara, Reijo, Kristo, Paula, Moisio, Anu-Liisa, Kääriäinen, Helena, Ahtola, Heikki, ...

Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common of the well-defined colorectal cancer syndromes, accounting for at least 2% of the total colorectal cancer burden and carrying a...