Zobrazeno 1 - 7
of 7
pro vyhledávání: '"K Doonanco"'
Publikováno v:
Cancer Research. 76:P2-09
Objectives Large deletions and duplications are recognized as a cause of many inherited cancer syndromes; however, few studies have examined the frequency. In one study, large rearrangements accounted for 11-14% of pathogenic variants in BRCA1 and 1-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba5b9ea3c3a09e9577d2f118c804f23d
https://doi.org/10.1158/1538-7445.sabcs15-p2-09-17
https://doi.org/10.1158/1538-7445.sabcs15-p2-09-17
Autor:
Lesley C. Adès, K Doonanco, Richard A. Gatti, Adilia Warris, Dagmar Wieczorek, Andrew P. Jackson, Jennie E. Murray, Angela L. Duker, Bernd Wollnik, Margriet van Kogelenberg, Michael Field, Michael H. Albert, Alan Ma, Tjitske Kleefstra, Peter Nürnberg, J. Steven Bamforth, Diana Johnson, Gökhan Yigit, Fiona Shackley, Sara Haghayegh, Michael B. Bober, Matthew E. Hurles, January Brandon, Louise S. Bicknell, C. Geoffrey Woods, Hülya Kayserili, Carol Wise, Michiel van der Flier, Helen V. Firth
Publikováno v:
Human Mutation, 35, 76-85
Human Mutation, 35, 1, pp. 76-85
Murray, J E, Bicknell, L S, Yigit, G, Duker, A L, van Kogelenberg, M, Haghayegh, S, Wieczorek, D, Kayserili, H, Albert, M H, Wise, C A, Brandon, J, Kleefstra, T, Warris, A, van der Flier, M, Bamforth, J S, Doonanco, K, Adès, L, Ma, A, Field, M, Johnson, D, Shackley, F, Firth, H, Woods, C G, Nürnberg, P, Gatti, R A, Hurles, M, Bober, M B, Wollnik, B & Jackson, A P 2013, ' Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency ', Human Mutation . https://doi.org/10.1002/humu.22461
Human Mutation
Human Mutation, 35, 1, pp. 76-85
Murray, J E, Bicknell, L S, Yigit, G, Duker, A L, van Kogelenberg, M, Haghayegh, S, Wieczorek, D, Kayserili, H, Albert, M H, Wise, C A, Brandon, J, Kleefstra, T, Warris, A, van der Flier, M, Bamforth, J S, Doonanco, K, Adès, L, Ma, A, Field, M, Johnson, D, Shackley, F, Firth, H, Woods, C G, Nürnberg, P, Gatti, R A, Hurles, M, Bober, M B, Wollnik, B & Jackson, A P 2013, ' Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency ', Human Mutation . https://doi.org/10.1002/humu.22461
Human Mutation
Contains fulltext : 138015.pdf (Publisher’s version ) (Open Access) Ligase IV syndrome is a rare differential diagnosis for Nijmegen breakage syndrome owing to a shared predisposition to lympho-reticular malignancies, significant microcephaly, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::616dd586b345394ac94e17019526f4a9
https://doi.org/10.1002/humu.22461
https://doi.org/10.1002/humu.22461
Autor:
Mala Isrie, K Doonanco, Stéphanie Moortgat, Andi H. Hansen, Valeria Marton, Norma Leonard, Erica E. Davis, Faten Tinsa, Jasmin Morandell, Ender Karaca, Nicholas Katsanis, Hilde Van Esch, Elena Porta Dapena, Alejandro Sifrim, Francesca Cristofoli, David A. Keays, Zachari A. Kupchinsky, Nicholas J. Cowan, Joris Vermeesch, Martin W. Breuss, Celia Maria Rodriguez-Rodriguez, Erkan Koparir, Guoling Tian, Hakan Ulucan
Publikováno v:
American journal of human genetics, 97(6), 790-800. Cell Press
Isrie, M, Breuss, M, Tian, G, Hansen, A H, Cristofoli, F, Morandell, J, Kupchinsky, Z A, Sifrim, A, Rodriguez-Rodriguez, C M, Dapena, E P, Doonanco, K, Leonard, N, Tinsa, F, Moortgat, S, Ulucan, H, Koparir, E, Karaca, E, Katsanis, N, Marton, V, Vermeesch, J R, Davis, E E, Cowan, N J, Keays, D A & Van Esch, H 2015, ' Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type ', American journal of human genetics, vol. 97, no. 6, pp. 790-800 . https://doi.org/10.1016/j.ajhg.2015.10.014
Isrie, M, Breuss, M, Tian, G, Hansen, A H, Cristofoli, F, Morandell, J, Kupchinsky, Z A, Sifrim, A, Rodriguez-Rodriguez, C M, Dapena, E P, Doonanco, K, Leonard, N, Tinsa, F, Moortgat, S, Ulucan, H, Koparir, E, Karaca, E, Katsanis, N, Marton, V, Vermeesch, J R, Davis, E E, Cowan, N J, Keays, D A & Van Esch, H 2015, ' Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type ', American journal of human genetics, vol. 97, no. 6, pp. 790-800 . https://doi.org/10.1016/j.ajhg.2015.10.014
Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65841a4351a6d4ebb0981c7151205a44
https://research.vumc.nl/en/publications/49610c3c-b8df-42c7-9a8f-0fa39eeefd81
https://research.vumc.nl/en/publications/49610c3c-b8df-42c7-9a8f-0fa39eeefd81
Publikováno v:
Kidney International. 86:860
To the Editor: Saisawat et al.1 described TRAP1 sequence variants in five families with congenital abnormalities of the kidney and urinary tract (CAKUT), with three having additional anomalies consistent with the VACTERL (vertebral anomalies, anal at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f579300906646660556c17016a115aad
https://doi.org/10.1038/ki.2014.208
https://doi.org/10.1038/ki.2014.208
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