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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. Wieczorek D, et al. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. Hum Mol Genet. 2013. PMID: 23906836 Free article.
Robinow syndrome with developmental brain dysplasia.
Guillén-Navarro E, Wallerstein R, Reich E, Zajac L, Ostrer H. Guillén-Navarro E, et al. Am J Med Genet. 1997 Nov 28;73(1):98-9. doi: 10.1002/(sici)1096-8628(19971128)73:1<98::aid-ajmg23>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9375934 No abstract available.
Acro-renal-ocular syndrome: expansion of the phenotype.
Guillén-Navarro E, Wallerstein R, Reich E, Zajac L, Ostrer H. Guillén-Navarro E, et al. Clin Dysmorphol. 1998 Oct;7(4):243-8. doi: 10.1097/00019605-199810000-00002. Clin Dysmorphol. 1998. PMID: 9823489 Review.
Mendelian diseases among Roman Jews: implications for the origins of disease alleles.
Oddoux C, Guillen-Navarro E, Ditivoli C, Dicave E, Cilio MR, Clayton CM, Nelson H, Sarafoglou K, McCain N, Peretz H, Seligsohn U, Luzzatto L, Nafa K, Nardi M, Karpatkin M, Aksentijevich I, Kastner D, Axelrod F, Ostrer H. Oddoux C, et al. J Clin Endocrinol Metab. 1999 Dec;84(12):4405-9. doi: 10.1210/jcem.84.12.6268. J Clin Endocrinol Metab. 1999. PMID: 10599695 Review.
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.
Cabrera-Alarcon JL, Cruz R, Rosa-Moreno M, Latorre-Pellicer A, de Almeida SD; Scourge Cohort Group; Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Sánchez-Cabo F, Carracedo Á, Enriquez JA. Cabrera-Alarcon JL, et al. Commun Biol. 2025 Jan 9;8(1):33. doi: 10.1038/s42003-024-07314-y. Commun Biol. 2025. PMID: 39789223 Free PMC article.
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.
Vendrell X, Abulí A, Serra C, Guillén JJ, Rueda J, García-Planells J, Santos-Simarro F, Quiroga R, Abellán F, Oancea-Ionescu R, Guillén-Navarro E. Vendrell X, et al. Among authors: guillen navarro e. Eur J Hum Genet. 2024 Dec 2. doi: 10.1038/s41431-024-01751-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39623216 Review.
Whole Blood Transcriptome Analysis in Congenital Anemia Patients.
Sanchez-Villalobos M, Campos Baños E, Martínez-Balsalobre E, Navarro-Ramirez V, Videla MAB, Pinilla M, Guillén-Navarro E, Salido-Fierrez E, Pérez-Oliva AB. Sanchez-Villalobos M, et al. Among authors: guillen navarro e. Int J Mol Sci. 2024 Oct 31;25(21):11706. doi: 10.3390/ijms252111706. Int J Mol Sci. 2024. PMID: 39519257 Free PMC article.
150 results