Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Merete Bugge"'
Autor:
Merete Bugge, Helle Strømkjær, Carsten A. Brandt, Michael B. Petersen, Claus Højbjerg Gravholt, Monna Caprani, U Henriques
Publikováno v:
Scopus-Elsevier
We present an unusual case of trisomy 18 due to a pseudodicentric chromosome 18 of paternal origin. The karyotype was: 46,XY, -18, +psu dic(18)(qter-->cen-->p11.31::p11.31-->psucen-->qter). The origin of the abnormal chromosome was verified by FISH w
Publikováno v:
American Journal of Medical Genetics. :230-233
The description of isochromosomes 18 has so far mainly been by cytogenetic studies and based on identical banding pattern of the two arms. However, only molecular techniques are capable to distinguish an isochromosome from a translocation, whole arm
Autor:
Merete Bugge, Michael B. Petersen, Georgia Karadima, Peter Nicolaidis, Dimitris Vassilopoulos, G. von Beust, Karen Brøndum-Nielsen
Publikováno v:
Fetal Diagnosis and Therapy. 13:42-45
Objective: To determine the origin of the extra chromosome in trisomy 8 in spontaneous abortions. Methods: We analyzed 4 cases of nonmosaic trisomy 8 in 1st-trimester spontaneous abortions and their parents with DNA polymorphism analysis using micros
Autor:
Claus Hansen, Karen Friis-Henriksen, Klaus W. Kjaer, John M. Opitz, Merete Bugge, Jess Hedeboe, Maria Baeksted Vestergaard, Niels Tommerup
Publikováno v:
American journal of medical genetics. 110(2)
In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD)—the Vordingborgtyp of axis duplication and dysostosis. Expansion of a polyalanine tract in the HOXD13 gene is known to
Publikováno v:
Friedrich, U, Bugge, M, Houman, M, Henriksen, K F & Brøndum-Nielsen, K 2000, ' Microdissection-a precise method to disclose the parental origin of supernumerary marker chromosomes ' European Journal of Medical Genetics, nr. 43, s. 109-110 .