Výsledky vyhledávání - "Maila, Penttinen"

Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome As an Example

Autor: Pia Pohjola, Maila Penttinen, Helena Kääriäinen, Klaus Elenius, Maarit Peippo

Publikováno v: Genetic Testing and Molecular Biomarkers; Vol 16

It is often the case that the genetic background of a rare disease has been solved, but the testing of a clinical patient can be performed only through research projects. Translating a research-based test into diagnostic service may also appear labor

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Ring Chromosome 20 Mosaicism in a Girl with Complex Partial Seizures

Autor: Taina Lakkata, Maila Penttinen, Tuula Ä ärimaa, Irma Holopainen

Publikováno v: Developmental Medicine & Child Neurology. 36:70-73

UMMARY The authors report an 11-year-old girl with epilepsy, poor school-performance and minor behavioural disorders. The epilepsy is characterized by complex partial seizures, sometimes progressing secondarily into generalized tonic-clonic seizures.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290c929da6fab844776f69f4d967d2a0
https://doi.org/10.1111/j.1469-8749.1994.tb11768.x

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A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

Autor: Marja Hietala, Jukka O. Laine, Kirsi Huoponen, Maila Penttinen, Pia E. Vuorela, Helena Kääriäinen

Publikováno v: Clinical Dysmorphology. 17:249-253

The autosomal dominant CHARGE syndrome (MIM musical sharp214800) is caused by mutations in the CHD7 gene. It is usually sporadic but a few cases with gonadal mosaicism and familial inheritance have been reported. We describe a familial CHARGE syndrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad5730afeaa07f3cceb974be562fa0b
https://doi.org/10.1097/mcd.0b013e328306a704

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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Autor: Jürgen Kohlhase, Minna Pöyhönen, Helena Kääriäinen, Sirpa Ala-Mello, Christian Wilhelm, Carola Saloranta, Elke M. Botzenhart, Birke Bausch, Kirsi Huoponen, Wiktor Borozdin, Pia E. Vuorela, Maila Penttinen

Publikováno v: Genetics in Medicine. 9:690-694

Purpose: Autosomal dominant CHARGE syndrome (OMIM no. 214800) is characterized by choanal atresia or cleft lip or palate, ocular colobomas, cardiovascular malformations, retardation of growth, ear anomalies, and deafness, and is caused by mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df907e8c24c9dfc7fe2e662cbca57dc5
https://doi.org/10.1097/gim.0b013e318156e68e

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The effect of 12‐month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease

Autor: Pirjo Nuutila, Tuula Janatuinen, Jan Sundell, Ilkka Kantola, Juhani Knuuti, Kari K. Kalliokoski, Maila Penttinen, Jorma Viikari, Jarna C. Hannukainen, Riikka Kalliokoski, Olli T. Raitakari, Erik Engblom

Publikováno v: Journal of Inherited Metabolic Disease. 29:112-118

Fabry disease (McKusick 301500) is an X-linked lysosomal storage disorder secondary to deficient alpha-galactosidase A activity which leads to the widespread accumulation of globotriaosylceramide (Gb(3)) and related glycosphingolipids, especially in

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https://doi.org/10.1007/s10545-006-0221-3

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Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease

Autor: Maila Penttinen, Juhani Knuuti, Kari K. Kalliokoski, Olli T. Raitakari, Pirjo Nuutila, Erik Engblom, Riikka Kalliokoski, Jan Sundell, Ilkka Kantola

Publikováno v: Journal of Inherited Metabolic Disease. 28:563-573

Fabry disease (McKusick 301500) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase A activity, which leads to accumulation of glycosphingolipids, especially in vascular smooth-muscle and endothelial cells. The effect of th

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https://doi.org/10.1007/s10545-005-0563-2

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Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C

Autor: Silke Kuhfahl, Marja Hietala, Stefan Mundlos, Katja Stange, Andreas R. Janecke, Hildegunde Piza-Katzer, Karen Hertel, Petra Seemann, Tino Thieme, Katarina Dathe, Elisabeth Schwarz, Maila Penttinen

Publikováno v: Journal of Molecular Biology

Growth and differentiation factor 5 (GDF5) plays a central role in bone and cartilage development by regulating the proliferation and differentiation of chondrogenic tissue. GDF5 is synthesized as a preproprotein. The biological function of the prore

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https://pubmed.ncbi.nlm.nih.gov/25092592

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Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland

Autor: Maila Penttinen, Vesa Juvonen, Satu-Maria A. Kulmala, Marja-Liisa Savontaus, Jaakko Ignatius

Publikováno v: Human Genetics. 110:36-40

Friedreich ataxia (FRDA) is associated with the expansion of a GAA trinucleotide repeat in the first intron of the frataxin (X25) gene. Worldwide it is considered to be the most common form of hereditary ataxia, but it is infrequently encountered in

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https://doi.org/10.1007/s00439-001-0642-x

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