Zobrazeno 1 - 10
of 294
pro vyhledávání: '"K.-H. Gustavson"'
Autor:
Paul Trouillas, Laura Montermini, Massimo Pandolfo, Ulrich Müller, John T. Poirier, Alfried Kohlschütter, Alessandro Filla, Michel Koenig, Mireille Cossée, Jean-Louis Mandel, K H Gustavson, Alexis Brice, A Nivelon-Chevallier, Malgorzata Labuda, P Allinson, Niklas Dahl, Michèle Schmitt, Angela Tammaro, Sergio Cocozza, M Kostrzewa, Alexandra Durr, G. De Michele, F Cavalcanti
Publikováno v:
Annals of Neurology. 45:200-206
Friedreich's ataxia is the most common inherited ataxia. Ninety-six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remaining cases are compound heterozygotes for a GAA expansio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c71240e01aedd30f4864742846fc6d4
https://doi.org/10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co
https://doi.org/10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co
Autor:
Arne Brun, K. H. Gustavson
Publikováno v:
Acta Pathologica Microbiologica Scandinavica Section A Pathology. :627-633
The XYY syndrome predisposes to mental retardation, personality defects and neurological symptoms. In autosomal chromosome syndromes such features are often associated with cerebral malformations. There are, however, only a few reports on the patholo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecb1529a0b7421ce4ae050443a29995d
https://doi.org/10.1111/j.1699-0463.1972.tb00326.x
https://doi.org/10.1111/j.1699-0463.1972.tb00326.x
Publikováno v:
Scandinavian Journal of Haematology. 30:36-42
A myeloproliferative condition in blastic phase is described in an 18-year-old male who was also found to have a mediastinal malignant teratoma. Myeloid metaplasia was found in the lymph nodes and spleen, and an infiltration of granulocytic blast cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad05051baf61290b46cf411c267456a6
https://doi.org/10.1111/j.1600-0609.1983.tb00632.x
https://doi.org/10.1111/j.1600-0609.1983.tb00632.x
Publikováno v:
Journal of Intellectual Disability Research. 21:161-180
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b78060c2f92239be128eeca7cbe27e4f
https://doi.org/10.1111/j.1365-2788.1977.tb00036.x
https://doi.org/10.1111/j.1365-2788.1977.tb00036.x
Publikováno v:
Clinical Genetics. 32:306-312
A follow-up investigation of 24 patients with hereditary spasticity in a geographically isolated northern Swedish population, first examined by Böök (1953), was performed. Fifteen of them were dead. During the period from 1950-1972 five new cases o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31bc7808b3c5b638210f1141cc3673d1
https://doi.org/10.1111/j.1399-0004.1987.tb03295.x
https://doi.org/10.1111/j.1399-0004.1987.tb03295.x
Publikováno v:
Clinical Genetics. 8:5-10
Two brothers, the only children of healthy, unrelated parents with normal karyotypes, had 47,XXY-Klinefelter's syndrome and bilateral testicular teratomas. The oldest XXY-boy had, in addition, congenital hydrocephalus caused by congenital stenosis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb853c853ed416fb0b3deeafea41d869
https://doi.org/10.1111/j.1399-0004.1975.tb01947.x
https://doi.org/10.1111/j.1399-0004.1975.tb01947.x
Autor:
D. Balaanyi, O. Gerngroß, H. Gnamm, K. H. Gustavson, H. Loewe, F. Mecke, W. Mensing, A. Miekeley, L. Pollak, G. Schuck, Th. Seiz, W. Grassmann
Dieser Buchtitel ist Teil des Digitalisierungsprojekts Springer Book Archives mit Publikationen, die seit den Anfängen des Verlags von 1842 erschienen sind. Der Verlag stellt mit diesem Archiv Quellen für die historische wie auch die disziplingesch
Autor:
J. Verneholt, K.‐H. Gustavson
Publikováno v:
Hereditas. 60:264-266
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70d4e967b8d4b52b283b9db523944ab6
https://doi.org/10.1111/j.1601-5223.1968.tb02207.x
https://doi.org/10.1111/j.1601-5223.1968.tb02207.x
Publikováno v:
Clinical Genetics. 36:439-441
Two young siblings with hereditary spastic diplegia and mental retardation (Book's syndrome) have had detailed clinical investigations since infancy. The inheritance pattern of this syndrome in the present family fits well with an autosomal recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb5ccb790c3f223f42ed91a05b13793d
https://doi.org/10.1111/j.1399-0004.1989.tb03373.x
https://doi.org/10.1111/j.1399-0004.1989.tb03373.x
Publikováno v:
Clinical Genetics. 11:270-272
In eight children with the dysequilibrium syndrome, an autosomally recessively inherited syndrome of cerebral palsy, low serum dopamine-β-hydroxylase activity was found. This indicates a diminished activity of the sympathetic nervous system in this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ec1165709a2df1434d7819483b17eb6
https://doi.org/10.1111/j.1399-0004.1977.tb01311.x
https://doi.org/10.1111/j.1399-0004.1977.tb01311.x