Zobrazeno 1 - 10
of 61
pro vyhledávání: '"J. G. Leroy"'
Autor:
Pawel Stankiewicz, Daryl A. Scott, Svetlana A. Yatsenko, Sakku Bai Naidu, Fernando Scaglia, Mark A. Tarnopolsky, J. G. Leroy, James R. Lupski, Sau Wai Cheung, G. Bibat, Ankita Patel, Małgorzata J.M. Nowaczyk
Publikováno v:
Journal of Medical Genetics. 42:328-335
Submicroscopic deletion del(9)(q34.3) is a rare constitutional microdeletion syndrome involving the gene-rich subtelomeric region of the long arm of chromosome 9, with about 30 cases reported.1,2,3,4,5,6,7,8,9,10,11,12 Visible constitutional 9q34 del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1db8c917fd00af9745c245ef85fd798
https://doi.org/10.1136/jmg.2004.028258
https://doi.org/10.1136/jmg.2004.028258
Autor:
Marc Espeel, Hanna Mandel, J. G. Leroy, Ronald J.A. Wanders, Frank Roels, M. Martinez, Jean-François Gadisseux, B. T. Poll-The
Publikováno v:
Journal of inherited metabolic disease, 18(Suppl. 1), 214-222. Springer Netherlands
Poll-The stressed the age-dependence of clinical presentation, as summarized in Table 1. Most symptoms are not specific for peroxisomal disorders but combinations of symptoms may be. Atypical CDP has the biochemical abnormalities of classical RCDP, b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90112cf265c854a1de31b3aba4e8c44
https://doi.org/10.1007/bf00711440
https://doi.org/10.1007/bf00711440
Publikováno v:
American journal of medical genetics. 84(1)
The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofaci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6344f3cf497b761ac2f94e82ed60eb84
https://pubmed.ncbi.nlm.nih.gov/10213048
https://pubmed.ncbi.nlm.nih.gov/10213048
Publikováno v:
Prenatal diagnosis. 18(10)
Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c545776a06de8b7017a2916282c66ca6
https://pubmed.ncbi.nlm.nih.gov/9826895
https://pubmed.ncbi.nlm.nih.gov/9826895
Publikováno v:
American journal of medical genetics. 65(3)
We have studied a girl with fibrotic extrinsic eye muscles, Axenfeld anomaly, unusual facial appearance, mild hydrocephaly, and neurodevelopmental delay. Her condition is similar to the one described recently in members of a single family by Chitty e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::623624f1fa10e2a8313a17bc017a0496
https://pubmed.ncbi.nlm.nih.gov/9240744
https://pubmed.ncbi.nlm.nih.gov/9240744
Autor:
J. G. Leroy, M. Espeel, J. F. Gadisseux, H. Mandel, M. Martinez, B. T. Poll-The, R. J. A. Wanders, F. Roels
Publikováno v:
Diagnosis of human peroxisomal disorders ISBN: 9780792338550
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d2ab90ee94e3fe70665a1b1fd7dbc88
https://doi.org/10.1007/978-94-011-9635-2_16
https://doi.org/10.1007/978-94-011-9635-2_16
Publikováno v:
Cancer genetics and cytogenetics. 60(2)
We report the cytogenetic findings in a case of malignant melanoma of soft parts. Overrepresentation of 1q together with a del(1)(q42), extra copies of chromosomes 7 and 8, and t(12;22)(q13;q13) were found. These findings allow further delineation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d4a39f7a6158f8d386bd6f37c0b8a1f4
https://pubmed.ncbi.nlm.nih.gov/1606560
https://pubmed.ncbi.nlm.nih.gov/1606560
Autor:
P. J. Willems, L. Vits, R. J. A. Wanders, P. J. Coucke, B. J. Van der Auwera, A. F. Van Elsen, P. Raeymaekers, C. Van Broeckhoven, R. B. H. Schutgens, G. Dacremont, J. G. Leroy, J.-J. Martin, J. E. Dumon
Publikováno v:
Archives of neurology
• We present a large kindred that contained patients with either adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN). The pedigree clearly supported the X-linked mode of inheritance of the nonneonatal form of ALD/AMN. Analysis with DNA marker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96bf4c5aaeaa4fa6a079c159f10525b8
https://pubmed.ncbi.nlm.nih.gov/2161209
https://pubmed.ncbi.nlm.nih.gov/2161209
Autor:
Abdul Waheed, Kurt von Figura, J. G. Leroy, August F. Van Elsen, Regina Pohlmann, Andrej Hasilik
Publikováno v:
Biochemical and Biophysical Research Communications. 105:1052-1058
A N-acetylglucosamine-1-phosphotransferase is involved in synthesis of a common phosphorylated recognition marker in lysosomal enzymes. Absence of this enzyme in liver, spleen, kidney and brain of two patients with I-cell disease is now reported. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::690e00b8177b32ed6f8f09c54177b01e
https://doi.org/10.1016/0006-291x(82)91076-2
https://doi.org/10.1016/0006-291x(82)91076-2
Autor:
J. G. Leroy, F. J. Vanneuville
Publikováno v:
Archives Internationales de Physiologie et de Biochimie. 88:155-161
The kinetic properties of the “constitutive” and the “induced” alkaline phosphatase in diploid fibroblasts are compared with those of the enzymes in crude tissue homogenates. Both the constitutive as the induced enzyme have properties compara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::130513b3a5537710c251ed48d44affae
https://doi.org/10.3109/13813458009075680
https://doi.org/10.3109/13813458009075680