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Pie Juan
Pie Juan
Profesor de Fisiología, Universidad de Zaragoza
在 unizar.es 的电子邮件经过验证
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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
MA Deardorff, M Kaur, D Yaeger, A Rampuria, S Korolev, J Pie, ...
The American Journal of Human Genetics 80 (3), 485-494, 2007
6092007
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
AD Kline, JF Moss, A Selicorni, AM Bisgaard, MA Deardorff, PM Gillett, ...
Nature Reviews Genetics 19 (10), 649-666, 2018
3552018
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ...
Human molecular genetics 23 (11), 2888-2900, 2014
1832014
Role of pinoline and melatonin in stabilizing hepatic microsomal membranes against oxidative stress
JJ Garcia, RJ Reiter, J Pie, GG Ortiz, J Cabrera, RM Sainz, ...
Journal of bioenergetics and biomembranes 31 (6), 609-616, 1999
1321999
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
S Rohatgi, D Clark, AD Kline, LG Jackson, J Pie, V Siu, FJ Ramos, ...
American Journal of Medical Genetics Part A 152 (7), 1641-1653, 2010
1102010
Phenotypes and genotypes in individuals with SMC1A variants
S Huisman, PA Mulder, E Redeker, I Bader, AM Bisgaard, A Brooks, ...
American Journal of Medical Genetics Part A 173 (8), 2108-2125, 2017
1092017
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
MC Gil‐Rodríguez, MA Deardorff, M Ansari, CA Tan, I Parenti, ...
Human mutation 36 (4), 454-462, 2015
1082015
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
J Pié, MC Gil‐Rodríguez, M Ciero, E López‐Viñas, MP Ribate, M Arnedo, ...
American Journal of Medical Genetics Part A 152 (4), 924-929, 2010
1042010
Molecular genetics of HMG-CoA lyase deficiency
J Pié, E Lopez-Vinas, B Puisac, S Menao, A Pié, C Casale, FJ Ramos, ...
Molecular genetics and metabolism 92 (3), 198-209, 2007
932007
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
I Parenti, ME Teresa-Rodrigo, J Pozojevic, S Ruiz Gil, I Bader, ...
Human genetics 136 (3), 307-320, 2017
832017
Oxidative toxicity in models of neurodegeneration: responses to melatonin
RJ Reiter, JJ Garcia, J Pie
Restorative neurology and neuroscience 12 (2, 3), 135-142, 1998
831998
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
A Latorre-Pellicer, Á Ascaso, L Trujillano, M Gil-Salvador, M Arnedo, ...
International Journal of Molecular Sciences 21 (3), 1042, 2020
642020
Clinical utility gene card for: Cornelia de Lange syndrome
FJ Ramos, B Puisac, C Baquero-Montoya, MC Gil-Rodríguez, I Bueno, ...
European Journal of Human Genetics 23 (10), 1431, 2015
582015
Genetic basis of mitochondrial HMG-CoA synthase deficiency
R Aledo, J Zschocke, J Pié, C Mir, S Fiesel, E Mayatepek, GF Hoffmann, ...
Human genetics 109 (1), 19-23, 2001
542001
Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction
I Parenti, C Gervasini, J Pozojevic, KS Wendt, E Watrin, J Azzollini, ...
Clinical genetics 89 (5), 564-573, 2016
532016
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
I Parenti, F Diab, SR Gil, E Mulugeta, V Casa, R Berutti, RWW Brouwer, ...
Cell Reports 31 (7), 107647, 2020
482020
Refining the diagnosis of mitochondrial HMG‐CoA synthase deficiency
R Aledo, C Mir, RN Dalton, C Turner, J Pié, FG Hegardt, N Casals, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2006
462006
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
J PIÉ, N CASALS, CH CASALE, C BUESA, C MASCARÓ, A BARCELÓ, ...
Biochemical Journal 323 (2), 329-335, 1997
461997
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
E Enervald, L Du, T Visnes, A Björkman, E Lindgren, J Wincent, G Borck, ...
Journal of Experimental Medicine 210 (12), 2503-2513, 2013
432013
Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity
P Carrasco, J Jacas, I Sahún, H Muley, S Ramírez, B Puisac, P Mezquita, ...
Behavioural brain research 256, 291-297, 2013
432013
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