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The 36th American Cytogenetics Conference

Autor: F. Pelliccia, M. Gerbault-Seureau, J. Daut, C. Denning, T. Meitinger, G. Fakis, K. Kikuchi, A. Dalski, H.G. Nothwang, N. Vogt, Y. Liu, M. Breen, P. Lichter, B. Malfoy, K.-H. Grzeschik, A. Rocchi, D. Incarnato, H.M. Mitchison, I. Papet, A.L. Loudon, C. Rossier, S. Schneider, B. Pedersen, D. Vogt, E. Chung, C. Menzel, L. Chen, G.A. Wittert, J. Perret, F. Willeke, L. Ferrara, Y. Watanabe, B. Ugele, W. Engel, V. Buckle, K.J. Fowler, S.E. Antonarakis, M.L. Ramírez-Dueñas, S.I. Anderson, M.E. Delany, R. Swanson, H. Turnbull, D. Sheer, T.E. Whitmore, F. Wei, M. Meeks, P. B. Bennett, H. Engel, A. Perucatti, J. Bonfils, A.C. Jelmberg, S.M. van der Maarel, K. Masuda, S. Lok, P.J. Hope, Y. Matsuda, L. French, R. Hawken, Ch. Zühlke, A. Hebinck, T. Lehnert, D.B. Zimonjic, R.H. Martin, E. Schwinger, R.M. Gardiner, M.L. Ayala-Madrigal, F. Liners, J.-P. Fryns, T.M. Skinner, T. Haaf, S.W. Scherer, M.M. Miller, E. Chevret, L. Rießelmann, R. Blevins, M.L. Watson, I.M. Adham, C.S. Haley, G.C. Webb, R. Shamsadin, M. Parmentier, L. Bartoloni, J. Koch, C. Gehrig, H. Hayes, S. Spiden, A.W.I. Lo, M.Z. Limongi, S. Ohl, S. Kollers, J.-L. Blouin, E. McKenna, A.B. Krupkin, J. Bernardino, D.S. Haines, J.L. Holloway, H.H. Ropers, R.M. Hope, C.E. Lofton-Day, A.R. Zinn, J. Wirth, S. Joos, N.C. Popescu, C. Lindbjerg Andersen, C.D. DeLozier-Blanchet, E.P. Cribiu, M. Østergaard, B. Brenig, E.V. Volpi, L. Schibler, B. Hinzmann, A. Krempler, M. Faure, M. Payton, N.K. Moschonas, A. Niveleau, N. Inoue, H.F. Otto, L. De Moerlooze, Q. Shi, B. Nielsen, P. Deloukas, K.H.A. Choo, M.F. Seldin, M. Otaño-Joos, C. Derst, D. Lefrançois, A. Schröer, I. Hansmann, P. Kalitsis, M.F. Maurer, R. Fries, M.T. Boyd, T.J. Quinton, A. Vilain, J.B. Vincent, K.K. Wilgenbus, G. von Beust, G.P. Di Meo, B. Dutrillaux, L. Gaddini, W. Scheurlen, G. Mechtersheimer, S. Doerr, A.L. Archibald, L. Iannuzzi, E. Sim, K. Regemann, R. Athwal, S. Kübart, A. Rosenthal, D.J. Figueroa, N. Tommerup, M.-G. Mattei, H. Shima, D.F.S. Longmuir, A.K. Maiti, J. Williamson, N.L. Lopez-Corrales, S. Boukouvala, C.P. Austin

Publikováno v: Cytogenetic and Genome Research. 90:154-168

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::03a94fccc10ed3ca0a8a2a61eff3572d
https://doi.org/10.1159/000015652

CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder

Autor: G P, Avgerinou, A P, Asvesti, A D, Katsambas, V A, Nikolaou, E C, Christofidou, K H, Grzeschik, R, Happle

Publikováno v: Journal of the European Academy of Dermatology and Venereology : JEADV. 24(6)

CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digital hypoplasi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e36c0387fb3ef6e18b22a563fe0daef4
https://pubmed.ncbi.nlm.nih.gov/19906044

Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12

Autor: S, Malik, A A, Abbasi, M, Ansar, W, Ahmad, M C, Koch, K-H, Grzeschik

Publikováno v: Clinical genetics. 69(6)

Syndactyly type II or synpolydactyly (SPD) is the second most frequent syndactyly type and is inherited in an autosomal dominant fashion. The cardinal features of this malformation are the cutaneous or bony fusion of third and fourth fingers, and fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6c693f65b0e115c467b4dd319a064d9c
https://pubmed.ncbi.nlm.nih.gov/16712704

CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene

Autor: C A, Kim, A, Konig, D R, Bertola, L M J, Albano, G J F, Gattás, D, Bornholdt, L, Leveleki, R, Happle, K-H, Grzeschik

Publikováno v: Dermatology (Basel, Switzerland). 211(2)

The X-linked dominant CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is a rare developmental defect characterized by a strictly lateralized inflammatory nevus. In the majority of cases, the right side of the body

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c279c0c0e7b688e4f5b7ed853e7316df
https://pubmed.ncbi.nlm.nih.gov/16088165