The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Autor: Constance T.R.M. Schrander-Stumpel, Christine E. M. de Die-Smulders, Alice S. Brooks, Johanna C. Herkert, Irene Stolte-Dijkstra, Wilhelmina S. Kerstjens-Frederikse, Augusta M. A. Lachmeijer, H.J.M. Smeets, Merel C. van Maarle, Arie van Haeringen, Klaske D. Lichtenbelt, Yvonne Arens, Demis Tserpelis, Gita M. B. Tan-Sindhunata, Eric Smeets, J. Herbergs, Yolande van Bever, Matteus K. M. Spee, Margriet Collée, Grazia M.S. Mancini, Marleen Simon, Aimee D C Paulussen, John J.M. Engelen, Alexander P.A. Stegmann, Anthonie J. van Essen, Mei L. Kwee, Anneke Maat-Kievit

Publikováno v: European Journal of Human Genetics, 18(9), 999-1005. Nature Publishing Group
Paulussen, A D C, Schrander-Stumpel, C T, Tserpelis, D C J, Spee, M K M, Stegmann, A P A, Mancini, G M, Brooks, A S, Collee, M, Maat-Kievit, A, Simon, M E H, van Bever, Y, Stolte-Dijkstra, I, Kerstjens-Frederikse, W S, Herkert, J C, van Essen, A J, Lichtenbelt, K D, van Haeringen, A, Kwee, M L, Lachmeijer, A M A, Sindhunata, M B, van Maarle, M C, Arens, Y H J M, Smeets, E E J G, de Die-Smulders, C E, Engelen, J J M, Smeets, H J & Herbergs, J 2010, ' The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes ', European Journal of Human Genetics, vol. 18, no. 9, pp. 999-1005 . https://doi.org/10.1038/ejhg.2010.70
European Journal of Human Genetics
European journal of human genetics, 18(9), 999-1005. Nature Publishing Group

Holoprosencephaly is a severe malformation of the brain characterized by abnormal formation and separation of the developing central nervous system. The prevalence is 1:250 during early embryogenesis, the live-born prevalence is 1:16 000. The etiolog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625b3b79b5c005e59631b588636a6a73
https://pure.eur.nl/en/publications/84293c2a-f8cb-41b7-8555-d591d1569cd5

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation

Autor: Alexander P.A. Stegmann, M.A.M. van Steensel, J. Herbergs, J.H. Vles, J. van Lent, Maaike Vreeburg, B. Smeets, J. J. M. Engelen, S. Ghesquiere

Publikováno v: American Journal of Medical Genetics Part A. :2944-2949

Microdeletions of Xp22.3 are associated with contiguous gene syndromes, the extent and nature of which depend on the genes encompassed by the deletion. Common symptoms include ichthyosis, mental retardation and hypogonadism. We report on a boy with s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7a8066eeb7b07e0ab0e1716f7903224
https://doi.org/10.1002/ajmg.a.32473

Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5188060dd59525313215d08b832c49
https://doi.org/10.1002/ajmg.a.20403

Multicolour fluorescent detection and mapping of AFLP markers in chicken (Gallus domesticus )

Autor: Maria Siwek, J.J. van der Poel, Richard P. M. A. Crooijmans, Martien A. M. Groenen, J. Herbergs

Publikováno v: Animal Genetics. 30:274-285

We describe the mapping of amplified restriction fragment polymorphism (AFLP) markers in chicken (Gallus domesticus) using a multi-colour fluorescent detection system. DNA was used from a population consisting of four families with a total of 183 F2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6e7d3737db40b3fc024b51ceccc935ba
https://doi.org/10.1046/j.1365-2052.1999.00494.x

IN SITU HYBRIDIZATION AND FLOW CYTOMETRIC ANALYSIS OF COLORECTAL TUMOURS SUGGESTS TWO ROUTES OF TUMOURIGENESIS CHARACTERIZED BY GAIN OF CHROMOSOME 7 OR LOSS OF CHROMOSOMES 17 AND 18

Autor: Anton H. N. Hopman, Jan-Willem Arends, Frans C. S. Ramaekers, J. Herbergs, Adriaan P. de Bruïne

Publikováno v: The Journal of Pathology. 179:243-247

Chromosomal aberrations in colonic tumourigenesis were investigated by fluorescence in situ hybridization (FISH) with centromere-specific DNA probes and correlated to flow cytometry (FCM) results in a series of tissues including normal colonic epithe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3057ae6df724521316db411f337a2d29
https://doi.org/10.1002/(sici)1096-9896(199607)179:3<243::aid-path588>3.0.co