Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families von Callewaert, B.L, Willaert, A, Kerstjens-Frederikse, W.S, De Backer, J, Devriendt, K, Albrecht, B, Ramos-Arroyo, M.A, Doco-Fenzy, M, Hennekam, R.C.M, Pyeritz, R.E, Krogmann, O.N, Gillessen-kaesbach, G, Wakeling, E.L, Nik-zainal, S, Francannet, C, Mauran, P, Booth, C, Barrow, M, Dekens, R, Loeys, B.L, Coucke, P.J, De Paepe, A.M

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Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene von Santesteban Muruzábal, R, Larumbe Irurzun, A, Yanguas Bayona, I, Ramos Arroyo, M.A

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Hunter and fragile-X syndromes in a family with Xq27.3-q28 deletion that involves FMR1 and IDS genes von Aguilera-Albesa, S, Mosquera-Gorostidi, A, Naberan-Mardaras, I, Gorria-Redondo, N, Urriza-Ripa, I, Yoldi-Petri, M.E, Ramos-Arroyo, M.A, Coll, M.J, Aznal, E, Sanchez-Valverde, F

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Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications von Brocklebank, D., Gayán, J., Andresen, J.M., Roberts, S.A., Young, A.B., Snodgrass, S.R., Penney, J.B., Ramos-Arroyo, M.A., Cha, J.J., Rosas, H.D., Hersch, S.M., Feigin, A., Cherny, S.S., Wexler, N.S., Housman, D.E., Cardon, L.R.

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Bebé colodión autorresolutivo: nueva mutación en el gen ALOX12B von Santesteban Muruzábal, R, Larumbe Irurzun, A, Yanguas Bayona, I, Ramos Arroyo, M.A

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SCA23: From likely pathogenic to rare polymorphism von Solaesa, V. García, Alonso, A. Bengoa, Rojas, M.T. Lizarraga, Sadaba, L. Echeverria, López, M. Artigas, Otsoa, E. Andueza, Harou, A., Iriarte, Y. Alvarez, Rey, M.M. Martinez, Arroyo, M.A. Ramos

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A new splicing variant of the CYP21A2 gene identified in 2 patients with non-classical form of 21-hydroxilase deficiency von Solaesa, V. Garcia, Rojas, M.T. Lizarraga, Alonso, A. Bengoa, Otsoa, E. Andueza, Garofalo, L. Morales, Sadaba, L. Echeverria, Harou, A., Munarriz, M. Aristu, Zapata, M.I. Janices, Arroyo, M.A. Ramos

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P146 – 2496: Clinical and genetic profile of two families with paroxysmal dyskinesia von Gorostidi, A. Mosquera, Esarte, E. Gembero, Arroyo, M.A. Ramos, Albesa, S. Aguilera, Petri, M.E. Yoldi

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PP05.12 – 2659: Congenital cataract with facial dysmorphism and neuropathy (CCFDN): Clinical presentation and genetic correlation von Gorostidi, A. Mosquera, Denis, S.E. Zarikian, Arroyo, E. Gembero, Arroyo, M.A. Ramos, Petri, M.E. Yoldi, Albesa, S. Aguilera

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Genetic Services in Spain von Ramos-Arroyo, M.A., Benitez, J., Estivill, J.

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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families von Callewaert, B.L, Willaert, A, Kerstjens-Frederikse, W.S, De Backer, J, Devriendt, Koenraad, Albrecht, B, Ramos-Arroyo, M.A, Doco-Fenzy, M, Hennekam, R.C.M, Pyeritz, R.E, Krogmann, O.N, Gillessen-kaesbach, G, Wakeling, E.L, Nik-zainal, S, Francannet, C, Mauran, P, Booth, C, Barrow, M, Dekens, R, Loeys, B.L, Coucke, P.J, De Paepe, A.M

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Características demográficas del síndrome de Down en Navarra: Evolución del diagnóstico pre y postnatal durante el periodo 1991-2009 von Ramos-Arroyo, M.A., Lizarraga Rojas, M., Hernández Charro, B., Martínez Jaurrieta, M.D., Zabaleta Jurío, J., Alonso Sánchez, A.

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Common fragile sites in meningioma, astrocytoma and control patients von Moreno-Laguna, S., de Campos, J.M., Kusak, M.E., Bello, M.J., Ramos-Arroyo, M.A., Rey, J.A.

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[Translated article] The computer application “SCAE” in the early diagnosis of musculoskeletal cancer in the healthcare area of the “Hospital Universitario 12 de Octubre”. Analysis... von Arroyo-Hernández, M., Casas-Ramos, P., Saldaña-Díaz, A., Mellado-Romero, M.A., Puertas-García-Sandoval, J.P., Ortiz-Cruz, E.J.

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Is there association between human development index and tuberculosis mortality risk? Evidence from a spatial analysis study in the south of Brazil von Santos, D T, Nunes, C, Alves, L S, Queiroz, A A R, Miranda, M J, Arroyo, L H, Yamamura, M, Belchior, A S, Popolin, M P, Arcoverde, M A M, Berra, T Z, Ramos, A C V, Pinto, I C, Palha, P F, Gabardo, B M A, Dessunti, E M, Arcêncio, R A

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La aplicación informática «SCAE» en el diagnóstico precoz del cáncer musculoesquelético en el área sanitaria del Hospital Universitario 12 de Octubre. Análisis de su efectividad y... von M. Arroyo Hernández, P. Casas Ramos, A. Saldaña Díaz, M.A. Mellado Romero, J.P. Puertas García-Sandoval, E.J. Ortiz Cruz

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Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia von Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A

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Nomograms for morbidity and mortality after oncologic colon resection in the enhanced recovery era: results from a multicentric prospective national study von Sánchez-Guillén, Luis, Frasson, Matteo, Pellino, Gianluca, Fornés-Ferrer, Victoria, Ramos, José Luis, Flor-Lorente, Blas, García-Granero, Álvaro, Sierra, Isabel Blesa, Jiménez-Gómez, Luis Miguel, Moya-Martínez, Alejandro, García-Granero, Eduardo

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La aplicación informática «SCAE» en el diagnóstico precoz del cáncer musculoesquelético en el área sanitaria del Hospital Universitario 12 de Octubre. Análisis de su efectividad y... von Arroyo Hernández, M., Casas Ramos, P., Saldaña Díaz, A., Mellado Romero, M.A., Puertas García-Sandoval, J.P., Ortiz Cruz, E.J.

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Gametic but not somatic instability of CAG repeat length in Huntington's disease von MacDonald, M E, Barnes, G, Srinidhi, J, Duyao, M P, Ambrose, C M, Myers, R H, Gray, J, Conneally, P M, Young, A, Penney, J

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