Search Results - "Tümer, Z."

Cornelia de Lange syndrome by Boyle, M.I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A.-M., Tümer, Z.

“…Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is…”
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Recent Advances in Imprinting Disorders by Soellner, L., Begemann, M., Mackay, D.J.G., Grønskov, K., Tümer, Z., Maher, E.R., Temple, I.K., Monk, D., Riccio, A., Linglart, A., Netchine, I., Eggermann, T.

“…Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features…”
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Response to Dylan Mordaunt and Alisha McLauchlan by Boyle, M. I., Tümer, Z.

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SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations by Rendtorff, ND, Schrijver, I, Lodahl, M, Rodriguez-Paris, J, Johnsen, T, Hansén, EC, Nickelsen, LAA, Tümer, Z, Fagerheim, T, Wetke, R, Tranebjærg, L

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A 37‐year‐old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial treatment by Tümer, Z., Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N., Møller, L.B

“…Menkes disease (MD) is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of…”
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A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia by Roos, L., Fang, M., Dali, C., Jensen, H., Christoffersen, N., Wu, B., Zhang, J., Xu, R., Harris, P., Xu, X., Grønskov, K., Tümer, Z.

“…Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very…”
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Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature by Schönewolf‐Greulich, B., Bisgaard, A‐M., Møller, R.S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Van Bergen, N.J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J., Tümer, Z.

“…The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing‐based techniques and many patients have been…”
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A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome – review of the literature by Boyle, M.I., Jespersgaard, C., Nazaryan, L., Bisgaard, A.‐M., Tümer, Z.

“…In a patient with CdLS (IV.16) we identifed a novel single basepair deletion (c.704delG) in RAD21, which encodes a cohesin pathway protein. The variant is…”
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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease by Erdogan, F, Larsen, L A, Zhang, L, Tümer, Z, Tommerup, N, Chen, W, Jacobsen, J R, Schubert, M, Jurkatis, J, Tzschach, A, Ropers, H-H, Ullmann, R

“…Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small…”
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Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair by Ravn, K, Lindquist, SG, Nielsen, K, Dahm, TL, Tümer, Z

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Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients by Tümer, Z., Harboe, T.L., Blennow, E., Kalscheuer, V.M., Tommerup, N., Brøndum-Nielsen, K.

“…We report molecular cytogenetic characterization of ring chromosome 15 in three unrelated male patients with the karyotype 46,XY,r(15). One was a stillborn…”
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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome by Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.

“…Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features…”
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Breakpoints around the HOXD cluster result in various limb malformations by Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, M, Mundlos, S, Tümer, Z, Kjaer, K, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, Kalscheuer, V M

“…Background: Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and…”
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Investigation of 4q-deletion in two unrelated patients using array CGH by Kaalund, S.S., Møller, R.S., Tészás, A., Miranda, M., Kosztolanyi, G., Ullmann, R., Tommerup, N., Tümer, Z.

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Mowat-Wilson syndrome: an underdiagnosed syndrome? by Engenheiro, E, Møller, RS, Pinto, M, Soares, G, Nikanorova, M, Carreira, IM, Ullmann, R, Tommerup, N, Tümer, Z

“…Mowat–Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to…”
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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region by Buysse, K, Crepel, A, Menten, B, Pattyn, F, Antonacci, F, Veltman, J A, Larsen, L A, Tümer, Z, de Klein, A, van de Laar, I, Devriendt, K, Mortier, G, Speleman, F

“…Recent molecular studies of breakpoints of recurrent chromosome rearrangements revealed the role of genomic architecture in their formation. In particular,…”
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Genetic anticipation in Behçet’s syndrome by Fresko, I, Soy, M, Hamuryudan, V, Yurdakul, S, Yavuz, Ş, Tümer, Z, Yazici, H

“…OBJECTIVE To examine the presence of genetic anticipation in families with Behçet’s syndrome (BS). METHODS A total of 18 families with 40 affected members in…”
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Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome by Engenheiro, E, Saraiva, J, Carreira, I, Ramos, L, Ropers, HH, Silva, E, Tommerup, N, Tümer, Z

“…Axenfeld–Rieger syndrome (ARS) is a genetically heterogeneous autosomal dominant disorder mainly characterized by developmental defects of the anterior segment…”
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Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome by Boonen, S.E., Stahl, D., Kreiborg, S., Rosenberg, T., Kalscheuer, V., Larsen, L.A., Tommerup, N., Brøndum‐Nielsen, K., Tümer, Z.

“…Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC),…”
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Genome-wide Gene Expression Profiling of SCID Mice with T-cell-mediated Colitis by Brudzewsky, D, Pedersen, A.E, Claesson, M.H, Gad, M, Kristensen, N.N, Lage, K, Jensen, T, Tommerup, N, Larsen, L.A, Knudsen, S, Tümer, Z

“…Inflammatory bowel disease (IBD) is a multifactorial disorder with an unknown aetiology. The aim of this study is to employ a murine model of IBD to identify…”
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