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Laryngeal Cleft as Presentation of a 4q13. 1q21. 23 Deletion

Autor: Wieringa, J.E., Jiskoot-Ermers, M.E., Marcelis, C.L., Leeuw, N. de, Winter, J., Gardeitchik, T.

Publikováno v: Annals of Clinical Case Reports, 7

Contains fulltext : 287955.pdf (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::84f4d51cb9629be6da5aa48ec51db163
http://hdl.handle.net/2066/287955

Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures

Autor: Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Siu, M., Cytrynbaum, C., Hoang, N., Walker, S., Scherer, S., Pfundt, R., Rinne, T., Gardeitchik, T., Vries, B. B. A., Stumpel, C. T. R. M., Stevens, S. J. C., Harssel, J., Bosch, D. G. M., Gassen, K. L. I., Binsbergen, E., Geus, C. M., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Lilian Bomme Ousager, Martin Jakob Larsen, Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Wilson, W. G., Schmidt, B., Meyn, S., Ounap, K., Reinson, K., Pajusalu, S., Ruivenkamp, C., Haeringen, A., Cuperus, R., Vissers, L. E. L. M., Brunner, H. G., Kleefstra, T., Koolen, D. A., Weksberg, R., GeneDx Inc

Publikováno v: Rots, D, Chater-Diehl, E, Dingemans, A J M, Siu, M, Cytrynbaum, C, Hoang, N, Walker, S, Scherer, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Stumpel, C T R M, Stevens, S J C, van Harssel, J, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Neumeyer, A M, Radley, J A, Phornphutkul, C, Wilson, W G, Schmidt, B, Meyn, S, Ounap, K, Reinson, K, Pajusalu, S, Ruivenkamp, C, van Haeringen, A, Cuperus, R, Vissers, L E L M, Brunner, H G, Kleefstra, T, Koolen, D A, Weksberg, R & Inc, G 2020, ' Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, pp. 34-35 .
University of Southern Denmark

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a2bcbc5487b6c7b63cd6aea418b402ba
https://portal.findresearcher.sdu.dk/da/publications/e3228e28-d4fc-4a07-8480-3fb7a895b3d2

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders

Autor: Gardeitchik, T., Wyckmans, J., Morava, E.

Publikováno v: Pediatric Clinics of North America, 65, 375-388
Pediatric Clinics of North America, 65, 2, pp. 375-388

Contains fulltext : 190421.pdf (Publisher’s version ) (Closed access) Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7170737e6ff96ed94cf4d1ffe5dfae04
http://hdl.handle.net/2066/190421

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

Autor: Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A.D., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., Die-Smulders, C.E. de, Gardeitchik, T., Putten, W.K. van, Perez, M.J., Musizzano, Y., Razavi, F., Drunat, S., Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G., Edery, P.

Publikováno v: Clinical Genetics, 90, 550-555
Clinical Genetics, 90(6), 550-555. Wiley
Clinical genetics, 90(6), 550-555. Wiley-Blackwell
Clinical Genetics, 90, 6, pp. 550-555

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0037dd2e669c539cccc0121850338c17
https://pubmed.ncbi.nlm.nih.gov/27040866