نتائج البحث - "Penttinen, Maila"

المساهمون: Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung, Sonnenfeld Stiftung, Berlin-Brandenburg School for Regenerative Therapies

المصدر: Journal of Molecular Biology ; volume 426, issue 19, page 3221-3231 ; ISSN 0022-2836

الاتاحة: http://dx.doi.org/10.1016/j.jmb.2014.07.029
https://api.elsevier.com/content/article/PII:S0022283614003969?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022283614003969?httpAccept=text/plain

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7

Academic Journal

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

المؤلفون: Pohjola, Pia, Peippo, Maarit, Penttinen, Maila T., Elenius, Klaus, Kääriäinen, Helena

المصدر: Genetic Testing and Molecular Biomarkers ; volume 16, issue 10, page 1188-1194 ; ISSN 1945-0265 1945-0257

الاتاحة: http://dx.doi.org/10.1089/gtmb.2012.0153
http://www.liebertpub.com/doi/full-xml/10.1089/gtmb.2012.0153
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2012.0153

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8

Academic Journal

Terminal 3p deletions in two families—Correlation between molecular karyotype and phenotype

المؤلفون: Pohjola, Pia, de Leeuw, Nicole, Penttinen, Maila, Kääriäinen, Helena

المصدر: American Journal of Medical Genetics Part A ; volume 152A, issue 2, page 441-446 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.33215
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33215
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33215

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9

Academic Journal

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

المؤلفون: Nellist, Mark, van den Heuvel, Diana, Schluep, Diane, Exalto, Carla, Goedbloed, Miriam, Maat-Kievit, Anneke, van Essen, Ton, Van Spaendonck-Zwarts, Karin, Jansen, Floor, Helderman, Paula, Bartalini, Gabriella, Vierimaa, Outi, Penttinen, Maila, van den Ende, Jenneke, van den Ouweland, Ans, Halley, Dicky

المصدر: Nellist , M , van den Heuvel , D , Schluep , D , Exalto , C , Goedbloed , M , Maat-Kievit , A , van Essen , T , Van Spaendonck-Zwarts , K , Jansen , F , Helderman , P , Bartalini , G , Vierimaa , O , Penttinen , M , van den Ende , J , van den Ouweland , A & Halley , D 2009 , ' Missense mutations to the TSC1 gene cause tuberous sclerosis complex ' , European Journal of Human Genetics , vol. 17 , no. 3 , pp. ....

مصطلحات موضوعية: tuberous sclerosis complex, TSC1, TSC2, HAMARTIN COMPLEX, MTOR, IDENTIFICATION, KINASE, COHORT

الاتاحة: https://hdl.handle.net/11370/4fa4be6f-4096-48bf-9f7b-c3a1f5210817
https://research.rug.nl/en/publications/4fa4be6f-4096-48bf-9f7b-c3a1f5210817
https://doi.org/10.1038/ejhg.2008.170

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10

Academic Journal

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities

المؤلفون: Penttinen, Maila, Koillinen, Hannele, Niinikoski, Harri, Mäkitie, Outi, Hietala, Marja

المصدر: American Journal of Medical Genetics Part A ; volume 149A, issue 3, page 451-455 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.32644
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.32644
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.32644

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11

Academic Journal

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

المؤلفون: Vuorela, Pia E., Penttinen, Maila T., Hietala, Marja H., Laine, Jukka O., Huoponen, Kirsi A., Kääriäinen, Helena A.

المصدر: Clinical Dysmorphology ; volume 17, issue 4, page 249-253 ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0b013e328306a704
https://journals.lww.com/00019605-200810000-00003

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12

Academic Journal

Neuropathic symptoms and findings in women with Fabry disease

المؤلفون: Laaksonen, Satu M., Röyttä, Matias, Jääskeläinen, Satu K., Kantola, Ilkka, Penttinen, Maila, Falck, Björn

المصدر: Clinical Neurophysiology ; volume 119, issue 6, page 1365-1372 ; ISSN 1388-2457

الاتاحة: http://dx.doi.org/10.1016/j.clinph.2008.02.004
https://api.elsevier.com/content/article/PII:S1388245708001442?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1388245708001442?httpAccept=text/plain

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13

Academic Journal

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

مصطلحات موضوعية: Abnormalities, Multiple, Child, Preschool, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Newborn, Male, Middle Aged, Mutation, Pedigree, Phenotype, Syndrome, Transcription Factors

Relation: Human Mutation vol:28 issue:2 pages:204-5; https://lirias.kuleuven.be/handle/123456789/246742

الاتاحة: https://lirias.kuleuven.be/handle/123456789/246742

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14

Academic Journal

Structural and functional changes in peripheral vasculature of Fabry patients

المؤلفون: Kalliokoski, Riikka J., Kalliokoski, Kari K., Penttinen, Maila, Kantola, Ilkka, Leino, Aila, Viikari, Jorma S., Simell, Olli, Nuutila, Pirjo, Raitakari, Olli T.

المصدر: Journal of Inherited Metabolic Disease ; volume 29, issue 5, page 660-666 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-006-0340-x
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-006-0340-x
https://onlinelibrary.wiley.com/doi/full-xml/10.1007/s10545-006-0340-x

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15

Academic Journal

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

المؤلفون: Juvonen, Vesa, Kulmala, Satu-Maria, Ignatius, Jaakko, Penttinen, Maila, Savontaus, Marja-Liisa

المصدر: Human Genetics ; volume 110, issue 1, page 36-40 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-001-0642-x
http://link.springer.com/content/pdf/10.1007/s00439-001-0642-x.pdf
http://link.springer.com/article/10.1007/s00439-001-0642-x/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00439-001-0642-x

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16

Academic Journal

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion

المؤلفون: Juvonen, Vesa, Hietala, Marja, Päivärinta, Markku, Rantamäki, Maria, Hakamies, Lauri, Kaakkola, Seppo, Vierimaa, Outi, Penttinen, Maila, Savontaus, Marja-Liisa

المصدر: Annals of Neurology ; volume 48, issue 3, page 354-361 ; ISSN 0364-5134

الاتاحة: http://dx.doi.org/10.1002/1531-8249(200009)48:3%3C354::aid-ana10%3E3.0.co%3B2-a
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F1531-8249(200009)48:3%3C354::AID-ANA10%3E3.0.CO%3B2-A
https://onlinelibrary.wiley.com/doi/full/10.1002/1531-8249(200009)48:3%3C354::AID-ANA10%3E3.0.CO%3B2-A

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17

Academic Journal

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)

المؤلفون: Rapola, Juhani, Lähdetie, Jaana, Isosomppi, Juha, Helminen, Päivi, Penttinen, Maila, Järvelä, Irma

المصدر: Prenatal Diagnosis ; volume 19, issue 7, page 685-688 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/(sici)1097-0223(199907)19:7%3C685::aid-pd603%3E3.0.co%3B2-f
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1097-0223(199907)19:7%3C685::AID-PD603%3E3.0.CO%3B2-F
https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1097-0223(199907)19:7%3C685::AID-PD603%3E3.0.CO%3B2-F

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18

Academic Journal

New progeroid disorder

المؤلفون: Penttinen, Maila, Niemi, Kirsti-Maria, Vinkka-Puhakka, Heli, Johansson, Reijo, Aula, Pertti

المصدر: American Journal of Medical Genetics ; volume 69, issue 2, page 182-187 ; ISSN 0148-7299

الاتاحة: http://dx.doi.org/10.1002/(sici)1096-8628(19970317)69:2%3C182::aid-ajmg13%3E3.0.co%3B2-h
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1096-8628(19970317)69:2%3C182::AID-AJMG13%3E3.0.CO%3B2-H
https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(19970317)69:2%3C182::AID-AJMG13%3E3.0.CO%3B2-H

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