Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rachel Beddow"'
Autor:
Mary R. Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo‐Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti‐Pierri, Katherine Neas, Rachel Beddow, Pernille M. Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A. Bacino, Akela Kuwahara, Jeffrey O. Bush, Xiaonan Zhao, Pamela N. Luna, Chad A. Shaw, Jill A. Rosenfeld, Daryl A. Scott
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbf2e7cf7e23b99bd24320dbc96276a
https://hdl.handle.net/11368/3032878
https://hdl.handle.net/11368/3032878
Autor:
Françoise Devillard, Marie Bidart, Véronique Satre, Pierre-Simon Jouk, Pauline Le Tanno, Frédérique Béna, Pierre F. Ray, Klaus Dieterich, Ida Vogel, Julie Breton, Maria Antonietta Pisanti, Charles Coutton, Hervé Sartelet, Luisa Mackenroth, Siv Fokstuen, M. C. Digilio, Fitsum Guebre-Egziabher, Alexia Apostolou, Karl Hackmann, C Bosson, Rikke Christensen, Sylvie Odent, Antonio Novelli, Radu Harbuz, Rachel Beddow, Gemma Poke, Laura Bernardini, Sylvie Jaillard, Gaëlle Vieville, Florence Amblard
Publikováno v:
Le Tanno, P, Breton, J, Bidart, M, Satre, V, Harbuz, R, Ray, P F, Bosson, C, Dieterich, K, Jaillard, S, Odent, S, Poke, G, Beddow, R, Digilio, M C, Novelli, A, Bernardini, L, Pisanti, M A, Mackenroth, L, Hackmann, K, Vogel, I, Christensen, R, Fokstuen, S, Béna, F, Amblard, F, Devillard, F, Vieville, G, Apostolou, A, Jouk, P-S, Guebre-Egziabher, F, Sartelet, H & Coutton, C 2017, ' PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans ', Journal of Medical Genetics, vol. 54, no. 7, pp. 502-510 . https://doi.org/10.1136/jmedgenet-2016-104435
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular cause of CAKUT but the culprit gene r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66666cd0586cface1fed31d3f6b63bf4
https://doi.org/10.1136/jmedgenet-2016-104435
https://doi.org/10.1136/jmedgenet-2016-104435
Publikováno v:
Pathology. 50:S105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0f2daf879919c6af749ca862844e3c7
https://doi.org/10.1016/j.pathol.2017.12.294
https://doi.org/10.1016/j.pathol.2017.12.294
Autor:
Rachel Beddow, Stephen P. Robertson, Jane A. Hurst, Timothy R. Morgan, Paul Wordsworth, Mary J Gray, Margriet van Kogelenberg, Deborah J. Shears
Publikováno v:
Journal of human genetics. 59(9)
Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple effects on chondrocyte, osteoblast and osteoclast function. Mutations and copy number imba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2119b9312df40078d445a9bb36caa4aa
https://pubmed.ncbi.nlm.nih.gov/25007883
https://pubmed.ncbi.nlm.nih.gov/25007883
Autor:
Rachel Beddow
Publikováno v:
Pediatric Cancer, Volume 3 ISBN: 9789400745278
The highly malignant rhabdoid tumours (MRTs) in particular atypical teratoid/rhabdoid tumours (AT/RT) are generally considered to be a childhood tumour with the majority of patients presenting at younger than 5 years of age. In most cases these tumou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25274bcd57ea9baaa545a79b911dfed4
https://doi.org/10.1007/978-94-007-4528-5_3
https://doi.org/10.1007/978-94-007-4528-5_3