Výsledky vyhledávání - "Niermeijer, M.F."

Three new families with arterial tortuosity syndrome

Autor: Wessels, M.W., Catsman-Berrevoets, C.E., Mancini, G.M.S., Breuning, M.H., Hoogeboom, J.J., Stroink, H., Frohn-Mulder, I.M., Coucke, P.J., Paepe, A.D., Niermeijer, M.F., Willems, P.J.

Publikováno v: American Journal of Medical Genetics. Part A, 131A, 2, pp. 134-43
American Journal of Medical Genetics. Part A, 131A, 134-43

Contains fulltext : 59229.pdf (Publisher’s version ) (Closed access) Arterial tortuosity syndrome (ATS) is a rare condition with autosomal recessive inheritance characterized by connective tissue abnormalities. The most specific clinical findings a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fa12f3e5264e38d4ba065b46d0d48924
https://hdl.handle.net/2066/59229

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Early fetal anomaly scanning in a population at increased risk of abnormalities

Autor: Hollander, A.I. den, Wessels, M.W., Niermeijer, M.F., Los, F.J., Wladimiroff, J.W.

Publikováno v: Ultrasound in Obstetrics & Gynecology, 19, 570-4
Ultrasound in Obstetrics & Gynecology, 19, 6, pp. 570-4

Item does not contain fulltext OBJECTIVES: To determine the effectiveness of early fetal anomaly scanning in a population at risk of fetal anomalies. DESIGN: A prospective study in a tertiary center of 101 consecutive fetuses at risk of congenital an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f244b55750fc015f3a12fd73319fabae
https://hdl.handle.net/2066/134192

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17 -Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations

Autor: Boehmer, A.L., Brinkmann, A.O., Sandkuijl, L.A., Halley, D.J., Niermeijer, M.F., Andersson, S., Jong, F.H. de, Kayserili, H., Vroede, M.A. de, Otten, B.J., Rouwé, C.W., Mendoça, B.B., Rodrigues, C., Bode, H.H., Ruiter, P.E. de, Delamarre-van Waal, H.A., Drop, S.L.

Publikováno v: Journal of Clinical Endocrinology and Metabolism, 84, 4713-4721
Journal of Clinical Endocrinology and Metabolism, 84, pp. 4713-4721

Item does not contain fulltext 9 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fff534b26061b19fadfb7475d6ee985
https://doi.org/10.1210/jc.84.12.4713

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Mental status of females with a FMR1 gene full mutation

Autor: Vries, B.B. de, Wiegers, A.M., Smits, A.P.T., Mohkamsing, S., Duivenvoorden, H.J., Fryns, J.P., Curfs, L.M.G, Halley, D.J., Oostra, B.A., Ouweland, A.M.W. van den, Niermeijer, M.F.

Publikováno v: American Journal of Human Genetics, 58, 5, pp. 1025-1032
American Journal of Human Genetics, 58, 1025-1032

Contains fulltext : 22480___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6a14b65bfcbb9c634950d36a4b86f2d0
https://hdl.handle.net/2066/22480

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Genomic sequencing in newborn screening programs

Autor: Dondorp, W.J., Wert, G.M.W.R. de, Niermeijer, M.F.

Publikováno v: Jama : Journal of the American Medical Association, 307, 20, pp. 2146; author reply 2147-2146; author reply 2147
Jama : Journal of the American Medical Association, 307, 2146; author reply 2147-2146; author reply 2147

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fa1d36172b6eb5400b5221563d9733a7
https://hdl.handle.net/2066/108032

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[Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis]

Autor: Niermeijer, M.F., Die-Smulders, C.E.M. de, Page-Christiaens, G.C., Wert, G.M.W.R. de

Publikováno v: Nederlands Tijdschrift voor Geneeskunde, 152, 27, pp. 1503-6
Nederlands Tijdschrift voor Geneeskunde, 152, 1503-6

Contains fulltext : 69302.pdf (Publisher’s version ) (Closed access) Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6c7fdd5e0ff10665aa9ea598770e1e16
https://hdl.handle.net/2066/69302

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[Brain infarction due to polycythemia as first indication of renal cell carcinoma]

Autor: Niermeijer, M.F.

Publikováno v: Nederlands Tijdschrift voor Geneeskunde, 150, 29, pp. 1642-3
Nederlands Tijdschrift voor Geneeskunde, 150, 1642-3

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d6638aa68fd0c2708c9830dd31d0a331
https://hdl.handle.net/2066/51223

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Familial gigantism caused by an NSD1 mutation

Autor: Haelst, M.M. van, Hoogeboom, J.J., Baujat, G., Bruggenwirth, H.T., Laar, I. van de, Coleman, K., Rahman, N., Niermeijer, M.F., Drop, S.L., Scambler, P.J.

Publikováno v: American Journal of Medical Genetics. Part A, 139, 40-4
American Journal of Medical Genetics. Part A, 139, 1, pp. 40-4

Contains fulltext : 47843.pdf (Publisher’s version ) (Closed access) A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been iden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8fbdecd80260e3977126b1eec008f22c
http://hdl.handle.net/2066/47843

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