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Genetics Luis Alberto Pérez Jurado

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Publications 2019 (8)

  • Bertran B, Figueras G, Aznar G, Rubio MA*. Nueva variante patogénica en el gen SPAST en una familia española afecta de paraplejía espástica hereditaria. Neurología (Barc) 2019: (en Premsa).
  • Serra-Juhé C, Martos-Moreno GÁ, Bou de Pieri F, Flores R, Chowen JA, Pérez-Jurado L, Argente J*. Heterozygous rare genetic variants in non-syndromic early-onset obesity. Int J Obesity 2019: (en Premsa).
  • Codina-Solà M, Costa M, Pérez-García D, Flores R, Palacios M, Cusco I*, Pérez-Jurado L. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. J Med Genet 2019: (en Premsa).
  • Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, den Hollander N, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado L, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J*, Jolly LA*, Undiagnosed Diseases Network.. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ? Signaling. Biol Psychiatry 2019: (en Premsa).
  • Tran AK*, Pearce A, López-Sánchez M, Pérez-Jurado L, Barnett C. Novel KIT mutation presenting as marked lentiginosis. Pediatr Dermatol 2019: (en Premsa).
  • Ruiz-Arenas C, Cáceres A, López-Sánchez M, Tolosana I, Pérez-Jurado L, González JR*. scoreInvHap: Inversion genotyping for genome-wide association studies. PLoS Genet 2019; 15(7): e1008203.
  • MacLennan AH, Lewis S, Moreno-De-Luca A, Fahey M, Leventer RJ, McIntyre S, Ben-Pazi H, Corbett M, Wang X, Baynam G, Fehlings D, Kurian MA, Zhu C, Himmelmann K, Smithers-Sheedy H, Wilson Y, Ocaña CS, van Eyk CL, Badawi N, Wintle RF, Jacobsson B, Amor DJ, Mallard C, Pérez-Jurado L, Hallman M, Rosenbaum PJ, Kruer MC, Gecz J. Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. J Child Neurol 2019; 34(8): 472-476.
  • Zhou W, Machiela MJ, Freedman ND, Rothman N, Malats N, Dagnall C, Caporaso N, Teras LT, Gaudet MM, Gapstur SM, Stevens VL, Jacobs KB, Sampson J, Albanes D, Weinstein S, Virtamo J, Berndt S, Hoover RN, Black A, Silverman D, Figueroa J, Garcia-Closas M, Real FX, Earl J, Marenne G, Rodriguez-Santiago B, Karagas M, Johnson A, Schwenn M, Wu X, Gu J, Ye Y, Hutchinson A, Tucker M, Pérez-Jurado L, Dean M, Yeager M, Chanock SJ*. Reply to 'Mosaic loss of chromosome Y in leukocytes matters'. Nat Genet 2019; 51(1): 7-9.

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Coordinator:
Luís Alberto Pérez Jurado(ELIMINAR)

Tel:
93 316 08 08

Fax:
93 316 09 01

Dr. Aiguader, 88
08003 Barcelona

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