Výsledky vyhledávání - "STOLTEDIJKSTRA, [No Value]"

Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization

Autor: vanZelderenBhola, SL, BreslauSiderius, EJ, Beverstock, GC, StolteDijkstra, [No Value], DeVries, LS, DePater, JM

Publikováno v: Prenatal Diagnosis, 17(2), 173-179. Wiley-Blackwell

We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::21420bbd1e895236ef4dd7748afb9ab2
https://research.rug.nl/en/publications/97be20e3-e0c4-42a3-a66b-3d07b2df4275

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REFINEMENT BY LINKAGE ANALYSIS IN 2 LARGE FAMILIES OF THE CANDIDATE REGION OF THE 3RD LOCUS (SCA3) FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I

Autor: VERSCHUURENBEMELMANS, CC, BRUNT, ERP, MENSINK, RGJ, VANDERMEULEN, MA, SMIT, NH, STOLTEDIJKSTRA, [No Value], BUYS, CHCM, SCHEFFER, H, Burton, M.

Publikováno v: HUMAN GENETICS, 96(6), 691-694. SPRINGER

The autosomal dominant cerebellar ataxias (ADCA) are clinically and genetically heterogeneous. To date, several loci (SCAI-V) have been identified for ADCA type I. We have studied two large families from the northern part of The Netherlands with ADCA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::28e0835ad57d33aee6a5fb38715c25b4
https://research.rug.nl/en/publications/37449a17-e14f-46c4-9f9e-a8bbc8157f81

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GENERAL OVERGROWTH IN THE FRAGILE-X SYNDROME - VARIABILITY IN THE PHENOTYPIC-EXPRESSION OF THE FMR1 GENE MUTATION

Autor: DEVRIES, BBA, ROBINSON, H, STOLTEDIJKSTRA, [No Value], GI, CVTP, DIJKSTRA, PF, VANDOOM, J, HALLEY, DJJ, OOSTRA, BA, TURNER, G, NIERMEIJER, MF

Publikováno v: JOURNAL OF MEDICAL GENETICS, 32(10), 764-769. BMJ PUBLISHING GROUP

The fragile X syndrome, which often presents in childhood with overgrowth, may in some cases show some diagnostic overlap with classical Sotos syndrome. We describe four fragile X patients with general overgrowth, all of whom are from families with o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::536d0a8dc55e17b5bcde52731eee9c22
https://research.rug.nl/en/publications/092f7724-396d-42f0-aec8-a0f24b4c0916

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