Zobrazeno 1 - 10
of 23
pro vyhledávání: '"W.H. Loneus"'
Autor:
A. A. M. Haagen, A. J. H. Hamers, E. J. M. Raven, W.H. Loneus, J. C. M. Albrechts, C. E. M. De Die-Smulders, J. J. M. Engelen, Ute Moog
Publikováno v:
Clinical Genetics. 46:423-429
We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter-->cen), one due to maternal inheritance and the other arising as mosaicism of unknown origin. The duplications are demonstr
Autor:
J. Herbergs, W.H. Loneus, J. Nijhuis, J. J. M. Engelen, D Marcus-Soekarman, S. Velzeboer, Ctrm Schrander-Stumpel, C. E. M. De Die-Smulders, G. Hamers
Publikováno v:
American Journal of Medical Genetics. :288-291
Institute for Growth and Development, University of Maastricht, The NetherlandsWe report on monozygotic (MZ) twins with adenovomos46,XX,der(15)t(11;15)(p12;p11.2)/46,XXkaryotypevaryingindifferenttissues.The clinical presentation and findings at thec
Autor:
C. E. M. De Die-Smulders, A.G.P. Jetten, A. J. H. Hamers, J.F. Sanchez-Garcia, J. Weber, W.H. Loneus, J. J. M. Engelen
Publikováno v:
American Journal of Medical Genetics. 100:56-61
We report on a 2-year-old boy presenting with growth and psychomotor retardation and facial anomalies, including a flat face with prominent forehead, a flat nasal bridge and flat occiput, unusually long curved eyelashes, and a thin upper lip with dow
Autor:
M.G.P. Alofs, C.L.M. Marcelis, W.H. Loneus, C.F.M. Pulles-Heintzberger, J. J. M. Engelen, A. J. H. Hamers
Publikováno v:
American Journal of Medical Genetics. 99:48-53
We report on a newborn boy with a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, facial anomalies and unilateral hydronephrosis. Cytogenetic analysis showed extra chromosomal material on the short arm of one
Autor:
Merryn V. E. Macville, Erik Huys, W.H. Loneus, April Schrank-Hacker, John J.M. Engelen, Beverly S. Emanuel, Eric F.P.M. Schoenmakers, D Marcus-Soekarman
Publikováno v:
American Journal of Medical Genetics. Part A, 140, 18, pp. 1973-7
American Journal of Medical Genetics. Part A, 140, 1973-7
American Journal of Medical Genetics. Part A, 140, 1973-7
1Cytogenetics Unit, Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands 2Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands 3Department of Human Genetics, Radboud Univ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b553bba1ee3e756d813d47640173a3db
https://europepmc.org/articles/PMC2818516/
https://europepmc.org/articles/PMC2818516/
Autor:
Yvonne Arens, M. van der Blij-Philipsen, C.M. van Ravenswaay, W.H. Loneus, J. J. M. Engelen, A.J.H. Hamers, Ctrm Schrander-Stumpel, Lutgarde C.P. Govaerts, J.C.M. van Lent-Albrechts
Publikováno v:
American Journal of Medical Genetics, 130A, 2, pp. 128-33
American Journal of Medical Genetics, 130A, 128-33
American Journal of Medical Genetics, 130A, 128-33
Item does not contain fulltext We report on the clinical and cytogenetic data of a large family with an unbalanced insertion translocation (3;5)(q25.3;q22.1q31.3). Analysis of GTG-banded chromosomes demonstrated that unbalanced inheritance of a paren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ae2deb173863cdb36b7317cd5e430a
https://hdl.handle.net/2066/58459
https://hdl.handle.net/2066/58459
Publikováno v:
American journal of medical genetics. Part A. (3)
Chromosome analysis in a couple referred because of two spontaneous abortions showed a normal 46,XX karyotype in the 28-year-old female and an aberrant Y chromosome with an enlarged short arm in the 30-year-old male. Subsequent chromosome analysis sh
Publikováno v:
American Journal of Medical Genetics Part A. :276-277
Kabuki syndrome is characterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip pads, and structural abnormalities mainly of the palate and the heart. Cytogenetic conditions
Publikováno v:
American Journal of Medical Genetics; 2004, Vol. 124 Issue 3, p288-291, 4p
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