Zobrazeno 1 - 10
of 578
pro vyhledávání: '"W, Lissens"'
Autor:
E, Quintana, L, Gort, C, Busquets, A, Navarro-Sastre, W, Lissens, S, Moliner, M, Lluch, M A, Vilaseca, L, De Meirleir, A, Ribes, P, Briones, C, Martínez-Costa
Publikováno v:
Clinical Genetics. 77:474-482
We screened for PDHA1 mutations in 40 patients with biochemically demonstrated PDHc deficiency or strong clinical suspicion, and found changes with probable pathological significance in 20. Five patients presented new mutations: p.A169V, c.932_938del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::704db14c2bc95fc726092850ec65391c
https://doi.org/10.1111/j.1399-0004.2009.01313.x
https://doi.org/10.1111/j.1399-0004.2009.01313.x
Autor:
V. GEOFFROY, F. FOUQUE, C. BENELLI, F. POGGI, J. M. SAUDUBRAY, W. LISSENS, L. D. MEIRLEIR, C. MARSAC, J. G. LINDSAY, S. J. SANDERSON
Publikováno v:
Pediatrics. 97:267-272
Studies of human pyruvate dehydrogenase (PDH) deficiency have shown that defects in the E1 component are not common, with only a small number of defects associated specifically with the E3, E2, and component X subunits. We report here clinical, enzym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73c58e9243337ceeedc1926b197626ee
https://doi.org/10.1542/peds.97.2.267
https://doi.org/10.1542/peds.97.2.267
Autor:
D, Amrom, I, Tanyalçin, H, Verhelst, N, Deconinck, G J, Brouhard, J-C, Décarie, T, Vanderhasselt, S, Das, F F, Hamdan, W, Lissens, J L, Michaud, A C, Jansen
Publikováno v:
Clinical genetics. 85(2)
Dominant mutations in TUBB2B have been reported in patients with polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B. Twenty patients with polymicrogyria (five unilateral) were tested for mutations in TUBB2B by Sanger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f5899584a7c7ee7052ca34043f9a4079
https://pubmed.ncbi.nlm.nih.gov/23495813
https://pubmed.ncbi.nlm.nih.gov/23495813
Autor:
A V, Vanlander, P G, Jorens, J, Smet, B, De Paepe, W, Verbrugghe, G G, Van den Eynden, F, Meire, P, Pauwels, N, Van der Aa, S, Seneca, W, Lissens, J G, Okun, R, Van Coster
Publikováno v:
Acta anaesthesiologica Scandinavica. 56(4)
Propofol is an anesthetic agent widely used for induction and maintenance of anesthesia, and sedation in children. Although generally considered as reliable and safe, administration of propofol can occasionally induce a potentially fatal complication
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1a0d026a5fd7044ce87ec7f499fc1f97
https://pubmed.ncbi.nlm.nih.gov/22260353
https://pubmed.ncbi.nlm.nih.gov/22260353
Publikováno v:
Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie. 71(3)
Infertility is a problem affecting many couples with a child wish. In about half of these couples a male factor is (co-) responsible for the fertility concern. For part of these patients a genetic factor will be the underlying cause of the problems.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::348897c5014689994c49443fbecb4821
https://pubmed.ncbi.nlm.nih.gov/20088251
https://pubmed.ncbi.nlm.nih.gov/20088251
Publikováno v:
Human Reproduction. 7:107-110
Although healthy babies have been born after preimplantation diagnosis for sex determination, this technique is still in an experimental phase. To date, removal by micromanipulation of one or two blastomeres from an eight-cell embryo seems an accepta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::838c4541f7e3de6aeef4ff2e704b5554
https://doi.org/10.1093/humrep/7.suppl_1.107
https://doi.org/10.1093/humrep/7.suppl_1.107
Publikováno v:
Humanexperimental toxicology. 27(5)
β-glucuronidase is considered a sensitive biomarker for acute organophosphorus poisoning. In this well-documented study, multiple plasma samples over time were collected. A decrease in plasma concentration of β-glucuronidase was surprisingly observ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605395ae4daecb7ca235b167bfd575f1
https://pubmed.ncbi.nlm.nih.gov/18715890
https://pubmed.ncbi.nlm.nih.gov/18715890
Autor:
W, Lissens, L, De Meirleir, S, Seneca, I, Liebaers, G K, Brown, R M, Brown, M, Ito, E, Naito, Y, Kuroda, D S, Kerr, I D, Wexler, M S, Patel, B H, Robinson, A, Seyda
Publikováno v:
Human mutation. 15(3)
Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis, a frequent manifestation of metabolic disease in children. Clinical symptoms can vary considerably in patients with PDH complex deficiencies, and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b328e1e28807db625dc06604a1720382
https://pubmed.ncbi.nlm.nih.gov/10679936
https://pubmed.ncbi.nlm.nih.gov/10679936
Publikováno v:
Manual on Assisted Reproduction ISBN: 9783642635434
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61019c9517fb73d1e37c0339cf1bdce5
https://doi.org/10.1007/978-3-642-58341-4_21
https://doi.org/10.1007/978-3-642-58341-4_21
Autor:
K, Jochmans, W, Lissens, S, Seneca, P, Capel, B, Chatelain, P, Meeus, J C, Osselaer, K, Peerlinck, J, Seghers, M, Slacmeulder, J, Stibbe, J, van de Loo, J, Vermylen, I, Liebaers, M, De Waele
Publikováno v:
Thrombosis and haemostasis. 80(3)
The molecular basis of hereditary antithrombin (AT) deficiency has been investigated in ten Belgian and three Dutch unrelated kindreds. Eleven of these families had a quantitative or type I AT deficiency, with a history of major venous thromboembolic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c058be98790797d1e4391bb85b486fa6
https://pubmed.ncbi.nlm.nih.gov/9759613
https://pubmed.ncbi.nlm.nih.gov/9759613