Zobrazeno 1 - 10
of 85
pro vyhledávání: '"F, Bamforth"'
Autor:
F. Bamforth
Newborn screening is a preventative public health initiative which allows detection of disorders early in life before clinical features are present. Early diagnosis and therapeutic intervention greatly improve the outcome for children identified with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89c3aa49d05322ded700c9549863567a
https://doi.org/10.1016/b978-0-12-381373-2.00073-9
https://doi.org/10.1016/b978-0-12-381373-2.00073-9
Autor:
E. Abad, M. Ábalos, K. Alhooshani, I. Allan, J.R. Almirall, J.L. Anderson, M. Asensio-Ramos, Y. Assadi, T.G. Aw, F. Bamforth, B.B. Barnes, D.B. Barr, R. Barro, G. Bartolucci, C. Basheer, J.M. Bayona, R.J. Bell, C. Bellevicine, K. Bentayeb, R. Berendt, V. Besada, W.R. Betz, C. Bicchi, A. Bidari, W. Blaser, F. Bono-Blay, C. Branham, M. Brokł, J.L. Brown, B. Buckley, P.L. Buldini, B. Buszewski, M.J. Cabrita, Y. Cai, L. Calamai, K. Calder, E. Carrasco, C.E. Cass, R.N. Cavalcanti, Y. Chai, F. Chapuis-Hugon, F. Chemat, L. Chen, B. Chiofalo, K. Choi, R. Chrisman, I.K. Chu, D.S. Chung, A. Cifuentes, A. Cincinelli, H. Cingi, R.E. Clement, L. Comin, C. Condurso, L.S. Conte, L. Cook, C. Cordero, M. Cortina-Puig, R. Costa, A.M. Costa Freitas, D.B. Craig, M.D.R. Gomes da Silva, K. Dabbs, C. Dall'Asta, S. Damaraju, F. David, M. de la Guardia, J.R. Dean, N Degli Innocenti, B. Dever, G. Di Bella, S. Díez, C. Domeño, A. Driga, M.W. Ducey, P. Dugo, G. Dugo, M. Dziadas, E. Eljarrat, F.A. Esteve-Turrillas, A.S. Fabiano-Tixier, M.A. Farajzadeh, C. Fernández-Gómez, M. Filella, L. Fitzhenry, B.R. Fonslow, K.G. Furton, R. Gadzała-Kopciuch, G. Galaverna, R.M. García-Gimeno, C. Garcia-Jares, J. Geisel, M. Ghambarian, K. Y.-H. Gin, A. Gjelstad, S.G. Goh, K. Graham, C. Guitart, J.W. Guthrie, C. Hao, C. Harman, Y. He, M. He, M.-C. Hennion, J. Hernández-Borges, A.V. Herrera-Herrera, M. Herrero, H. Hintelmann, H. Holness, S. Hu, B. Hu, H. Huang, C.M. Hussain, E. Ibáñez, R. Ito, P. Jandera, H.H. Jeleń, J.-F. Jen, G. Jiang, K. Jinno, J.Å. Jönsson, H. Ju, A. Kabir, C. Kadilar, S.K. Kailasa, S. Kanimozhi, A. Kärrman, H. Kataoka, M. Kawaguchi, R.A. Ketola, J. Kim, J. Knulst, I. Koch, J.M. Kokosa, P. Konieczka, W. Konz, P.V. Kumar, S. Lacorte, M. Lai, S.P.D. Lalljie, M.P.Y. Lam, E. Lau, X.C. Le, M.M. Lean, H.K. Lee, K. Lew, L. Li, J. Li, Y. Li, G. Liang, E. Liberto, E. Lipiec, X. Liu, M. Llompart, H.L. Lord, M. Lu, B. Lü, P. Luna, C.E. Lunte, S.M. Lunte, M.D. Luque de Castro, J.R. Mackey, M. Majcher, A. Malik, P. Manesiotis, M. Marega, S. Marín, B.J. Marquardt, P.J. Marriott, A. Martín-Esteban, J.R. Martínez, I. Martínez-Castro, P. Martos, V. Matamoros, C.F. McGuigan, M.A.A. Meireles, Y. Meng, A. Mevoli, F. Michopoulos, K. Misuno, S. Mitra, L. Mondello, G. Moneti, S. Moret, F.M. Musteata, H. Nakazawa, J. Namieśnik, P. Nandi, C. Nerin, C. Nerín, T.E. Newsome, E.R. Nichols, A.A. Nuhu, M. Ogawa, S.V. Olesik, J. Parera, D.R. Parkinson, A. Pastor, K. Pawlak, J. Pawliszyn, S. Pedersen-Bjergaard, F. Pérez-Rodríguez, E.A. Pfannkoch, V. Pichon, Y. Picó, G. Pieraccini, D. Pingret, M. Plaza, C.F. Poole, S.K. Poole, P.A. Prada, V. Lo Presti, F. Priego-Capote, A.S. Ptolemy, G. Purcaro, S. Rafati, R.V. Rajotte, L. Ramos, R. Rando, K.E. Rasmussen, G.R. Rayat, D. Raynie, J.W. Readman, A.R. Regel, K. Reimer, B.E. Richter, K. Ridgway, S. Risticevic, M.Á. Rodríguez-Delgado, A. Rodriguez-Lafuente, M.P. Romero, C.F. Ross, P. Rubiolo, Y. Saito, M. Saitta, J. Salafranca, M.D.A. Saldaña, M.L. Sanz, B. Sellergren, F.J. Señoráns, J.L. Sericano, B. Sgorbini, S. Shen, Y. Shi, T.S. Shih, R.T. Short, B. Shurmer, L.M. Sidisky, M. Słomińska, R.M. Smith, N.H. Snow, C. Song, A.C. Soria, E.E. Stashenko, H. Steed, E.G. Stephanou, A.M. Stortini, J. Szpunar, M. Szultka, A. Takatsu, S.H. Te, F. Temelli, G. Theodoridis, K.V. Thomas, A. Tovar-Sánchez, G. Troncone, P.J. Tsai, S.N. Uang, I. Ueta, A. Valero, B. van Bavel, V. Varone, A. Verzera, F. Villanelli, L. Viñas, D. Vuckovic, G.S. Walker, S.M. Wang, W. Wang, H. Wang, N. Wang, Q. Wang, D.A. Wells, C.-W. Whang, I.D. Wilson, J.W. Wong, T.N. Wu, J. Wu, P. Wu, Hui-Fen Wu, Li Xu, L. Xu, Y. Yamini, X.P. Yan, L. Yang, J.R. Yates, M. Ye, X.B. Yin, H. Yuan, J.W. Zewe, W. Zhan, L. Zhang, Y. Zhang, Q. Zhang, M. Zhang, K. Zhang, Q. Zhao, J.L. Zhou, J.J. Zhu, H. Zou, A. Zygler
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad632c6e91af91db9ed7c5128002b8b8
https://doi.org/10.1016/b978-0-12-381373-2.01005-x
https://doi.org/10.1016/b978-0-12-381373-2.01005-x
Publikováno v:
Journal of Inherited Metabolic Disease. 31:777-778
In the article FNewborn screening in North America_, Therrell and Adams provide a detailed history of the evolution in newborn screening across North America since its introduction in the 1960s. The authors state that the introduction of tandem mass
Publikováno v:
American journal of medical genetics. 77(5)
After being poisoned by eating the mushroom species Cortinarius speciosissimus, a twin developed interstitial nephritis with acute renal failure. He received a renal transplant from his living twin brother, who was presumed dizygotic on phenotypic gr
Autor:
G A, Machin, F, Bamforth
Publikováno v:
American journal of medical genetics. 61(3)
Most triplets are trizygotic because they result from assisted reproduction. Prognosis is generally good. We analyzed 15 sets of triplets who were conceived spontaneously. Six sets were monozygotic, 7 were dizygotic, and only 2 sets were trizygotic.
Autor:
N J, Leonard, F P, Bernier, N, Rudd, G A, Machin, F, Bamforth, S, Bamforth, P, Grundy, C, Johnson
Publikováno v:
American journal of medical genetics. 61(3)
Wiedemann-Beckwith syndrome (WBS) is a congenital anomaly syndrome which classically consists of exomphalos, macroglossia, and gigantism. The syndrome is also associated with a variety of minor anomalies and affected individuals have an increased ris
Publikováno v:
Journal of perinatology : official journal of the California Perinatal Association. 13(1)
We report a newborn infant with extensive aplasia cutis congenita of the flanks and thighs, associated with a co-twin fetus papyraceus. DNA restriction fragment polymorphism analysis of the twins proved dizygosity. The association of these two condit
Akademický článek
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Publikováno v:
Clinical Biochemistry. 30:370
Akademický článek
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