Zobrazeno 1 - 10
of 15
pro vyhledávání: '"F. J. M. Gabreëls"'
Autor:
H.-H. Ropers, S.E.C. van Beersum, Edwin C. M. Mariman, A.A.W.M. Gabreëls-Festen, F. J. M. Gabreëls, P. J. H. Jongen, Pieter A. Bolhuis, Linda J. Valentijn, Frank Baas
Publikováno v:
Annals of Neurology. 36:650-655
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder of the peripheral nerves leading to increased susceptibility to mechanical traction or compression. Some patients have been shown to be carriers of a 1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8567becc63b73a47ece15a26b87500d1
https://doi.org/10.1002/ana.410360415
https://doi.org/10.1002/ana.410360415
Autor:
B.W. Ongerboer de Visser, E. M. G. Joosten, Emiel A. M. Janssen, Linda J. Valentijn, Frank Baas, M. de Visser, A.A.W.M. Gabreëls-Festen, G. W. Hensels, F. J. M. Gabreëls, Pieter A. Bolhuis, Jessica E. Hoogendijk, I. Zorn
Publikováno v:
Neurology, 43(5), 1010-1015. Lippincott Williams and Wilkins
The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe featur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fceb673bff2902231533546eafda398d
https://doi.org/10.1212/wnl.43.5.1010
https://doi.org/10.1212/wnl.43.5.1010
Autor:
P C M, Pasker-de Jong, G A, Zielhuis, M M H J, van Gelder, A, Pellegrino, F J M, Gabreëls, T K A B, Eskes
Publikováno v:
BJOG : an international journal of obstetrics and gynaecology. 117(9)
To determine the functional development of children born after treatment of mild-to-moderate gestational hypertension with labetalol versus methyldopa, and no antihypertensive treatment.Historical cohort study.Twelve Dutch hospital departments of obs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::13de71d0fa1cde2883ae0e1fb30aa3b5
https://pubmed.ncbi.nlm.nih.gov/20477821
https://pubmed.ncbi.nlm.nih.gov/20477821
Publikováno v:
Neuropediatrics, 31, 1-3
Neuropediatrics, 31, pp. 1-3
Neuropediatrics, 31, pp. 1-3
A previously healthy 11-year old girl with three episodes of alternating facial palsy is described. On examination during the third relapse a severe essential hypertension was diagnosed, accompanied by abnormalities on cerebral imaging, cardiac and f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8bcfee9deed2283e030ec8f1cc60458
https://pubmed.ncbi.nlm.nih.gov/11508553
https://pubmed.ncbi.nlm.nih.gov/11508553
Publikováno v:
Neuropediatrics, 30, pp. 1-5
Neuropediatrics, 30, 1-5
Neuropediatrics, 30, 1-5
Hereditary deficiency of prothrombin is a rare autosomal recessive bleeding disorder, with severe bleeding diathesis in homozygotes, but rarely resulting in intracranial haematoma. We describe two infants of consanguineous parents, presenting with ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63f9c9e416df749f556cdfe72ff3643
https://hdl.handle.net/2066/186056
https://hdl.handle.net/2066/186056
Autor:
H. H. Ropers, F. J. M. Gabreëls, Pieter A. Bolhuis, P. J. H. Jongen, E. van de Looij, S.E.C. van Beersum, A.A.W.M. Gabreëls-Festen, Frank Baas, Edwin C. M. Mariman
Publikováno v:
Human genetics, 93(2), 151-156. Springer Verlag
Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of the peripheral nervous system, the cause of which has recently been identified as a deletion on chromosome 17p. The deletion corresponds to the duplication that is commo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7ee8506e30b6217610af25d0885750a
https://pure.amc.nl/en/publications/evidence-for-genetic-heterogeneity-underlying-hereditary-neuropathy-with-liability-to-pressure-palsies(7d256cd8-2fc0-488b-bc63-113fd717023c).html
https://pure.amc.nl/en/publications/evidence-for-genetic-heterogeneity-underlying-hereditary-neuropathy-with-liability-to-pressure-palsies(7d256cd8-2fc0-488b-bc63-113fd717023c).html
Autor:
J. J. Martin, C. Van Broeckhoven, M. de Visser, Emiel A. M. Janssen, Linda J. Valentijn, A.A.W.M. Gabreëls-Festen, G. W. Hensels, Frank Baas, Jessica E. Hoogendijk, F. J. M. Gabreëls, P. de onghe, Pieter A. Bolhuis
Publikováno v:
The lancet : international edition
Lancet, 339(8801), 1081-1082. Elsevier Limited
Lancet, 339(8801), 1081-1082. Elsevier Limited
Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f0005c2c4cc5c72cee39a4fd4f83fe7
https://pubmed.ncbi.nlm.nih.gov/1349106
https://pubmed.ncbi.nlm.nih.gov/1349106
Publikováno v:
Aktuelle Neuropädiatrie 1989 ISBN: 9783642934124
Aktuelle Neuropädiatrie 1989
Aktuelle Neuropädiatrie 1989
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cbfa3b13167ecb9b9ee479e3479c277
https://doi.org/10.1007/978-3-642-93411-7_32
https://doi.org/10.1007/978-3-642-93411-7_32
Publikováno v:
Neuromuscular Disorders. 6:S21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a45aa962e5278892d80d0b37bc00d5e0
https://doi.org/10.1016/0960-8966(96)89011-0
https://doi.org/10.1016/0960-8966(96)89011-0
Publikováno v:
European Journal of Clinical Pharmacology. 8:97-105
The pharmacokinetics of the anti-epileptic drug di-n-propylacetate (DepakineR) have been studied in 7 patients, in whom plasma concentrations were determined during and following subchronic treatment. Elimination of the drug appeared to follow a mono
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191d5cf65013b1c36f701013dc57c13f
https://doi.org/10.1007/bf00561557
https://doi.org/10.1007/bf00561557