Zobrazeno 1 - 9 of 9 pro vyhledávání: '"P. M. Grootscholten"'
1
Prenatal Prediction of Spinal Muscular Atrophy
Autor: Charles H.C.M. Buys, L.P. ten Kate, G van der Steege, Jan Osinga, J. M. Cobben, Hans Scheffer, Rob G.J. Mensink, M. de Visser, J. B. B. M. Verhey, Melvin D. Burton, P. M. Grootscholten
Publikováno v: European Journal of Human Genetics. 4:231-236
With the localisation of the gene for the autosomal recessive forms of proximal spinal muscular atrophies (SMA) to the chromosomal region 5q13 and the later detection of homozygous deletions of the SMN gene located in this region, prenatal prediction
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7bc509891d8bdf464bf4432c86a3d074
https://doi.org/10.1159/000472204
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2
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
Autor: G, van der Steege, P M, Grootscholten, J M, Cobben, S, Zappata, H, Scheffer, J T, den Dunnen, G J, van Ommen, C, Brahe, C H, Buys
Publikováno v: American journal of human genetics. 59(4)
The survival motor neuron (SMN) gene has been described as a determining gene for spinal muscular atrophy (SMA). SMN has a closely flanking, nearly identical copy (cBCD541). Gene and copy gene can be discriminated by sequence differences in exons 7 a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::52b8552d5cc62220c549181af2eb3f48
https://pubmed.ncbi.nlm.nih.gov/8808598
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3
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis
Autor: J M, Cobben, H, Scheffer, M, De Visser, G, Van der Steege, J B, Verhey, J, Osinga, M, Burton, R G, Mensink, P M, Grootscholten, L P, Ten Kate, C H, Buys
Publikováno v: European journal of human genetics : EJHG. 4(4)
With the localisation of the gene for the autosomal recessive forms of proximal spinal muscular atrophies (SMA) to the chromosomal region 5q13 and the later detection of homozygous deletions of the SMN gene located in this region, prenatal prediction
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b06cf6eec0b5b65a5c7ebc4d8fe34f49
https://pubmed.ncbi.nlm.nih.gov/8875190
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7
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene
Autor: P. M. Grootscholten, M. O. Scott, Sidney M. Gospe, N. S. Lava, R. P. Lazaro, Kenneth H. Fischbeck
Publikováno v: Scopus-Elsevier
We report a family with an X-linked recessive disorder characterized by muscle cramps and myalgia. Nine affected male family members had high resting serum levels of creatine kinase, and well-developed musculature with calf hypertrophy but no evidenc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f0b188bcc87d3c9f48fc387b296b1ed
https://pubmed.ncbi.nlm.nih.gov/2677830
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9
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
Autor: J T, Den Dunnen, P M, Grootscholten, E, Bakker, L A, Blonden, H B, Ginjaar, M C, Wapenaar, H M, van Paassen, C, van Broeckhoven, P L, Pearson, G J, van Ommen
Publikováno v: American journal of human genetics. 45(6)
We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight mutations (65%) were found, 115 deletions and 13 duplications, of which 106 de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::270ac0d06d5b2b2f463ea9e85f2c5b0b
https://pubmed.ncbi.nlm.nih.gov/2573997
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