Zobrazeno 1 - 10 of 124 pro vyhledávání: '"David R. Betts"'
1
Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion
Autor: Sophie Duignan, David R. Betts, Colin J McMahon, Andrew Green, Linda McArdle, Ross Foley
Publikováno v: Cardiology in the Young, 32(5):1047951121003826, 821-823. Cambridge University Press
Nicolaides–Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff8b2379b492941a5878baeb7c6c230
https://doi.org/10.1017/s1047951121003826
Zobrazit plný text záznamu
2
Association of unbalanced translocation der(1;7) with germline GATA2 mutations
Autor: Nadine Van Roy, Kirsi Jahnukainen, Danielle E. Arnold, Sioban Keel, Katherine R. Calvo, Gudrun Göhring, Cristina Mecucci, Charlotte M. Niemeyer, Joelle Tchinda, Alison A. Bertuch, Jochen Buechner, Dennis D. Hickstein, Olga Haus, Peter Nöllke, Shlomit Barzilai-Birenboim, Courtney D. DiNardo, Martin Čermák, Helena Alaiz, Ayami Yoshimi, Hiroto Inaba, Sara Lewis, Steven M. Holland, Shinsuke Hirabayashi, Brigitte Schlegelberger, Victor B Pastor, Dominik Turkiewicz, Emilia J Kozyra, Hajnalka Andrikovics, Amy P. Hsu, Mark D. Fleming, David R. Betts, Henrik Hasle, Karin Nebral, Masahiro Onozawa, Valerie de Haas, Jan Stary, José Cervera, Francesco Pasquali, Akiko Shimamura, Kalliopi N. Manola, Michael Dworzak, Kiran Tawana, Zuzana Zemanova, Marcin W. Wlodarski, Shaohua Lei, H. Berna Beverloo, Brigitte Strahm
Publikováno v: Kozyra, E J, Göhring, G, Hickstein, D D, Calvo, K R, DiNardo, C D, Dworzak, M, de Haas, V, Starý, J, Hasle, H, Shimamura, A, Fleming, M D, Inaba, H, Lewis, S, Hsu, A P, Holland, S M, Arnold, D E, Mecucci, C, Keel, S B, Bertuch, A A, Tawana, K, Barzilai, S, Hirabayashi, S, Onozawa, M, Lei, S, Alaiz, H, Andrikovics, H, Betts, D, Beverloo, B H, Buechner, J, Čermák, M, Cervera, J, Haus, O, Jahnukainen, K, Manola, K N, Nebral, K, Pasquali, F, Tchinda, J, Turkiewicz, D, Van Roy, N, Zemanova, Z, Pastor, V B, Strahm, B, Noellke, P, Niemeyer, C M, Schlegelberger, B, Yoshimi, A & Wlodarski, M W 2021, ' Association of unbalanced translocation der(1;7) with germline GATA2 mutations ', Blood, vol. 138, no. 23, pp. 2441-2445 . https://doi.org/10.1182/blood.2021012781
Blood, 138(23), 2441-2445. American Society of Hematology
Blood
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac915d144b3e5e29067d37c55b8eaea0
https://pure.au.dk/ws/files/274410748/Primary_cytotoxic_T_cell_lymphomas_harbor_recurrent_targetable_alterations_in_the_JAK_STAT_pathway.pdf
Zobrazit plný text záznamu
3
Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and
Autor: Ross, Foley, Sophie, Duignan, Linda, McArdle, David R, Betts, Andrew, Green, Colin J, McMahon
Publikováno v: Cardiology in the young. 32(5)
Nicolaides-Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b997a5548b0d725a452c3e17b4513339
https://pubmed.ncbi.nlm.nih.gov/34521483
Zobrazit plný text záznamu
5
Frequency and prognostic impact of ALK amplifications and mutations in the European Neuroblastoma Study Group (SIOPEN) high-risk neuroblastoma trial (HR-NBL1)
Autor: Ulrike Pötschger, Gudrun Schleiermacher, Sally L George, Nick Bown, Jaydutt Bhalshankar, Sylvain Baulande, Peter F. Ambros, Josef Malis, Gaëlle Pierron, Eve Lapouble, Katia Mazzocco, Virginie Bernard, Jaime Font de Mora, Katleen De Preter, Annick Mühlethaler-Mottet, Nadine Van Roy, Martina Morini, Genevieve Laureys, Bárbara Marques, Dominique Valteau-Couanet, Olivier Delattre, Marta Jeison, Victoria Castel, Shifra Ash, Valérie Combaret, Nathalie Auger, Ruth Ladenstein, Sabine Taschner-Mandl, Louis Chesler, Maria Rossing, David R. Betts, Ales Vicha, Rosa Noguera, Klaus Beiske, Angela Bellini, Walentyna Balwierz, Deborah A. Tweddle, Maja Popovic-Beck, Marie Bernkopf, Nathalie Clément, Per Kogner, Tommy Martinsson, Roberto Luksch, Martin Elliott, Irene Jiménez
Publikováno v: JOURNAL OF CLINICAL ONCOLOGY
Bellini, A, Potschger, U, Bernard, V, Lapouble, E, Baulande, S, Ambros, P F, Auger, N, Beiske, K, Bernkopf, M, Betts, D R, Bhalshankar, J, Bown, N, De Preter, K, Clement, N, Combaret, V, De Mora, J F, George, S L, Jimenez, I, Jeison, M, Marques, B, Martinsson, T, Mazzocco, K, Morini, M, Muhlethaler-Mottet, A, Noguera, R, Pierron, G, Rossing, M, Taschner-Mandl, S, Van Roy, N, Vicha, A, Chesler, L, Balwierz, W, Castel, V, Elliott, M, Kogner, P, Laureys, G, Luksch, R, Malis, J, Popovic-Beck, M, Ash, S, Delattre, O, Valteau-Couanet, D, Tweddle, D A, Ladenstein, R & Schleiermacher, G 2021, ' Frequency and prognostic impact of alk amplifications and mutations in the european neuroblastoma study group (siopen) high-risk neuroblastoma trial (hr-nbl1) ', Journal of Clinical Oncology, vol. 39, no. 30, pp. 3377-3390 . https://doi.org/10.1200/JCO.21.00086
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of clinical oncology : official journal of the American Society of Clinical Oncology
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
Journal of clinical oncology, vol. 39, no. 30, pp. 3377-3390
Purpose: In neuroblastoma (NB), the ALK receptor tyrosine kinase can be constitutively activated through activating point mutations or genomic amplification. We studied ALK genetic alterations in high-risk (HR) patients on the HR-NBL1/SIOPEN trial to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f945798aee88bde13807004951fe9f5
https://hdl.handle.net/1854/LU-8743680
Zobrazit plný text záznamu
6
A retrospective study of myeloid leukaemia in children with Down syndrome in Ireland
Autor: David R. Betts, Aoife Sills, Melanie Cotter, Andrea Malone, Gavin P Dowling, Pamela Evans, Owen P Smith, Andrea Piccin, Katherine T Gavin, Aengus O' Marcaigh
Publikováno v: Irish journal of medical science. 189(3)
Acute megakaryoblastic leukaemia (AMKL) is a subtype of myeloid leukaemia and is the most common leukaemia type in children with Down syndrome (DS) under 4 years of age. AMKL is often preceded by a transient neonatal pre-leukaemic syndrome, transient
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60af668a827f0a5e2dc059cf8ed0331d
https://pubmed.ncbi.nlm.nih.gov/32006388
Zobrazit plný text záznamu
7
GP75 Case of a lifetime – how mosaicism may mislead
Autor: Erina Sasaki, Zephra Adamson, David R. Betts, Paula Carty, Ann Marie Hegarty, Linda McArdle, William Reardon
Publikováno v: Abstracts.
A patient was referred in consequence of an abnormal microarray finding. The background history was of Left Congenital Diaphragmatic hernia, coarctation of Aorta and PDA. Examined at 5 weeks by Consultant Clinical Geneticist, she was non-dysmorphic,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b12f0c191901df3f797021790e93d874
https://doi.org/10.1136/archdischild-2019-epa.141
Zobrazit plný text záznamu
8
P572 Partial double trisomy 9 and 13-first reported case in medical literature
Autor: Qasim Mahmood, Birendra Rai, David R. Betts, Rizwan Khan
Publikováno v: Abstracts.
Background Both trisomy 9p and partial trisomy 13q have been recognised in past with characteristics clinical anomaly, our case is the first reported case of combined partial double trisomy involving chromosome 9p and 13q. Phenotypic Characteristics
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::60c826af3b8f03aa84d9366e79617d21
https://doi.org/10.1136/archdischild-2019-epa.906
Zobrazit plný text záznamu
10
Guidelines for cytogenetic investigations in tumours
Autor: Roberta Vanni, David R Betts, Jacqueline Schoumans, Bauke Ylstra, Maria Grazia Tibiletti, Paul Roberts, Marian Stevens-Kroef, Rosalind J. Hastings, Nick Bown, Nadine Van Roy, Eva van den Berg-de-Ruiter, Annet Simons, Maria Debiec-Rychter, Sverre Heim, Alain Bernheim, Blanca Espinet, Marta Salido, Steve Chatters, Zuzana Zemanova
Publikováno v: European Journal of Human Genetics, 24(1), 6-13. Nature Publishing Group
Hastings, R J, Bown, N, Tibiletti, M G, Debiec-Rychter, M, Vanni, R, Espinet, B, van Roy, N, Roberts, P, van den Berg-de-Ruiter, E, Bernheim, A, Schoumans, J, Chatters, S, Zemanova, Z, Stevens-Kroef, M, Simons, A, Heim, S, Salido, M, Ylstra, B & Betts, D R 2016, ' Guidelines for cytogenetic investigations in tumours ', European Journal of Human Genetics, vol. 24, no. 1, pp. 6-13 . https://doi.org/10.1038/ejhg.2015.35
European Journal of Human Genetics, 24, 1, pp. 6-13
European Journal of Human Genetics, 24, 6-13
Cytogenetic and molecular genetic data are of paramount importance in the diagnosis, prognosis, and risk stratification of patients with malignant diseases. Sometimes they even directly guide the choice of therapy.1 Disease-specific abnormalities, pa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7729de05e7de3b25703d16df8ea8742
https://doi.org/10.1038/ejhg.2015.35
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje