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encarna guillen-navarro
encarna guillen-navarro
Hospital Clínico Universitario V. Arrixaca. IMIB-Arrixaca. Universidad de Murcia. CIBERER-ISCIII
Verified email at carm.es
Title
Cited by
Cited by
Year
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
D Wieczorek, N Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ...
Human molecular genetics 22 (25), 5121-5135, 2013
2402013
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
M Scarpa, Z Almássy, M Beck, O Bodamer, IA Bruce, L De Meirleir, ...
Orphanet journal of rare diseases 6, 1-18, 2011
2382011
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
1762014
Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis
DB Sparrow, E Guillén-Navarro, D Fatkin, SL Dunwoodie
Human molecular genetics 17 (23), 3761-3766, 2008
1522008
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 …
A Ali, PT Christie, IV Grigorieva, B Harding, H Van Esch, SF Ahmed, ...
Human molecular genetics 16 (3), 265-275, 2007
1482007
Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum
MT Puig‐Hervás, S Temtamy, M Aglan, M Valencia, V Martínez‐Glez, ...
Human mutation 33 (10), 1444-1449, 2012
1142012
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
J Plaisancié, I Bailleul‐Forestier, V Gaston, F Vaysse, D Lacombe, ...
American Journal of Medical Genetics Part A 161 (4), 671-678, 2013
852013
A new seipin-associated neurodegenerative syndrome
E Guillén-Navarro, S Sánchez-Iglesias, R Domingo-Jiménez, B Victoria, ...
Journal of medical genetics 50 (6), 401-409, 2013
792013
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
CE Ott, G Leschik, F Trotier, L Brueton, HG Brunner, W Brussel, ...
Human mutation 31 (8), E1587-E1593, 2010
782010
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
NC Bramswig, HJ Lüdecke, Y Alanay, B Albrecht, A Barthelmie, ...
Human genetics 134, 553-568, 2015
762015
CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms
V Romanelli, A Belinchon, S Benito‐Sanz, V Martínez‐Glez, ...
American Journal of Medical Genetics Part A 152 (6), 1390-1397, 2010
762010
Schimke immunoosseous dysplasia: suggestions of genetic diversity
JM Clewing, H Fryssira, D Goodman, SF Smithson, EA Sloan, S Lou, ...
Human mutation 28 (3), 273-283, 2007
682007
Clinical spectrum of CMT4C disease in patients homozygous for the p. Arg1109X mutation in SH3TC2
J Colomer, R Gooding, D Angelicheva, RHM King, E Guillén-Navarro, ...
Neuromuscular Disorders 16 (7), 449-453, 2006
662006
Autosomal dominant oculoauriculovertebral spectrum and 14q23. 1 microduplication
MJ Ballesta‐Martínez, V López‐González, LA Dulcet, ...
American journal of medical genetics Part A 161 (8), 2030-2035, 2013
622013
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants
B Paumard-Hernández, J Berges-Soria, E Barroso, CI Rivera-Pedroza, ...
European Journal of Human Genetics 23 (7), 907-914, 2015
602015
Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
V Romanelli, HNM Meneses, L Fernández, V Martínez-Glez, ...
European journal of human genetics 19 (4), 416-421, 2011
552011
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ...
Nature 617 (7962), 764-768, 2023
532023
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
JA Caparros‐Martin, MS Aglan, S Temtamy, GA Otaify, M Valencia, ...
Molecular genetics & genomic medicine 5 (1), 28-39, 2017
512017
SRY gene expression in the ovotestes of XX true hermaphrodites
J Ortenberg, C Oddoux, R Craver, K Mcelreavey, L Salas-Cortes, ...
The Journal of urology 167 (4), 1828-1831, 2002
502002
Novel genes and sex differences in COVID-19 severity
R Cruz, S Diz-de Almeida, M López de Heredia, I Quintela, FC Ceballos, ...
Human Molecular Genetics 31 (22), 3789-3806, 2022
482022
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