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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Eur J Hum Genet. 2024 Mar;32(3):366. doi: 10.1038/s41431-024-01561-7.
Eur J Hum Genet. 2024.
PMID: 38355964
Free PMC article.
No abstract available.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R.
Awamleh Z, et al. Among authors: martinez carrascal a.
Eur J Hum Genet. 2024 Mar;32(3):324-332. doi: 10.1038/s41431-024-01538-6. Epub 2024 Jan 29.
Eur J Hum Genet. 2024.
PMID: 38282074
Free PMC article.
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A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.
Tenorio J, et al.
Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.
Hum Mutat. 2014.
PMID: 25196541
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Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P; PDH Working Group.
Quintana E, et al.
Clin Genet. 2010 May;77(5):474-82. doi: 10.1111/j.1399-0004.2009.01313.x. Epub 2009 Dec 10.
Clin Genet. 2010.
PMID: 20002461
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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Barreda-Sánchez M, Rodriguez-Peña L, Martínez-Menchon MT, Frías-Iniesta J, Sánchez-Pedreño P, Carbonell-Meseguer P, Glover-López G, Guillén-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia).
Martínez-Romero MC, et al.
Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x.
Orphanet J Rare Dis. 2019.
PMID: 31796081
Free PMC article.
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[Inverted duplication of the short arm of chromosome 8].
Rodríguez Martínez L, Jiménez Muñoz-Delgado N, Nieto C, Martínez Carrascal A, López Grondona F, Martínez Frías ML.
Rodríguez Martínez L, et al. Among authors: martinez carrascal a.
An Esp Pediatr. 2001 Nov;55(5):458-62.
An Esp Pediatr. 2001.
PMID: 11696311
Spanish.
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[Viral myocarditis].
Díaz-Delgado Peñas R, Andreu Alapont E, Martínez Carrascal A, Rodríguez García MJ.
Díaz-Delgado Peñas R, et al. Among authors: martinez carrascal a.
An Esp Pediatr. 1999 Nov;51(5):571-2.
An Esp Pediatr. 1999.
PMID: 10652814
Spanish.
No abstract available.
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