Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Jan B. Bijlsma"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
A. Monic N. Zwamborn-Hanssen, Jan B. Bijlsma, Eric F. A. M. Hennekam, Dick Lindhout, Frits A. Beemer, Egbert Bakker, Wim J. Kleijer, Henny F. de France, Christine E. M. de Die-Smulders, Martinus Duran, Albert H. van Gennip, J. Theo van Mens, Peter L. Pearson, Gerrit Mantel, Rob E. Verhage, Joep P. M. Geraedts
Publikováno v:
American Journal of Medical Genetics, 70, 444-447. Wiley-Liss Inc.
In medical genetics, several systems are used to classify and code genetic disorders for the purpose of automated registration. In the Netherlands, a genetic diagnosis code system has been developed that links a unique four-digit code to a principal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de8c786f437d0c890fdbe46e5139913a
https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<444::aid-ajmg20>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<444::aid-ajmg20>3.0.co
Publikováno v:
Journal of Child Neurology. 10:459-463
Charcot-Marie-Tooth disease comprises a heterogeneous group of neurologic disorders that share peripheral motor and sensory neuropathy. A classification of these disorders was proposed in 1975, defining seven types of hereditary motor and sensory neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a3d791a9f1ad3b6c3d4f18855b203d
https://doi.org/10.1177/088307389501000607
https://doi.org/10.1177/088307389501000607
Publikováno v:
Annual Review of Hydrocephalus ISBN: 9783662111574
Macrocephaly describes an occipito-frontal circumference (OFC) exceeding the mean value for age and sex by more than two standard deviations (SD’s). On the basis of computed tomography (CT) length measurements, it is possible to divide children wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::beab6ce48138ba2647a46cabca51057d
https://doi.org/10.1007/978-3-662-11155-0_35
https://doi.org/10.1007/978-3-662-11155-0_35
Autor:
Hans W. M. ter Berg, Cees van der Heiden, Jose A. Pires Veiga, Jacobus Willemse, Cees A. F. Tulleken, Jan B. Bijlsma, J. Werner Ludwig
Publikováno v:
Archives of neurology. 43(1)
• The familial occurrence of intracranial aneurysms and the possible relationship with connective tissue disease are discussed. We studied a large family in which seven members presented with aneurysms. Another family member presented with a subara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5cbe5a92a222923b306cc1d475e1ecf
https://pubmed.ncbi.nlm.nih.gov/3942510
https://pubmed.ncbi.nlm.nih.gov/3942510
Autor:
Johanna M. Klep-de Pater, Jan B. Bijlsma, Henny F. de France, Nico J. Leschot, Mia Duijndam-van den Berge, Jan O. van Hemel
Publikováno v:
Human genetics. 46(1)
Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b4a835fe23cb715fdaa867efdf0cbd1
https://pubmed.ncbi.nlm.nih.gov/429004
https://pubmed.ncbi.nlm.nih.gov/429004
Publikováno v:
Human genetics. 40(2)
Double translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of a double translocation in more than one generation has not been previously published. The index case was a 16-year-old mentally
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae73e150db0515501b9ea9ab52efec2
https://pubmed.ncbi.nlm.nih.gov/624544
https://pubmed.ncbi.nlm.nih.gov/624544
Publikováno v:
American journal of medical genetics. 28(1)
The 3-M syndrome is a clinically recognizable disorder characterized by prenatal and postnatal growth retardation and a spectrum of consistent minor anomalies. Intelligence seems normal. Inheritance is probably autosomal recessive, with possible expr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ff4d1d5438ad731d8134a399d96a6b
https://pubmed.ncbi.nlm.nih.gov/3314510
https://pubmed.ncbi.nlm.nih.gov/3314510
Publikováno v:
Neuropediatrics. 18(4)
This report describes three individuals belonging to one family, who were affected with ruptured intracranial aneurysms (IAs) at a rather young age, 4, 15 and 23 years respectively. Familial IAs at this young age have not been described before. The e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b2f2338320270602d20e5402856f6dc
https://pubmed.ncbi.nlm.nih.gov/3320808
https://pubmed.ncbi.nlm.nih.gov/3320808
Autor:
J. W. M. ter Berg, C. A. F. Tulleken, T. M. D. Overtoom, Jacobus Willemse, J. W. Ludwig, Jan B. Bijlsma
Publikováno v:
Neuroradiology. 29(3)
The authors discuss the detection of intracranial aneurysms (IA) by means of intravenous digital angiography (ivDSA) in (a)symptomatic first degree relatives of families in which two or more individuals have IA. ivDSA is an almost noninvasive and low
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f32a2023b70246f35f7df7f7130ff84
https://pubmed.ncbi.nlm.nih.gov/3302757
https://pubmed.ncbi.nlm.nih.gov/3302757