| Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene L Alías, S Bernal, P Fuentes-Prior, MJ Barceló, E Also, ... Human genetics 125, 29-39, 2009 | 187 | 2009 |
| Clinical, molecular and biochemical characterization of nine Spanish families with Conradi–Hünermann–Happle syndrome: new insights into X‐linked dominant chondrodysplasia … J Cañueto, M Girós, S Ciria, G Pi‐Castán, M Artigas, J García‐Dorado, ... British Journal of Dermatology 166 (4), 830-838, 2012 | 59 | 2012 |
| Thyroid function in the aged admitted to a nursing home AL BJ, SA JL Anales de Medicina Interna (Madrid, Spain: 1984) 17 (1), 5-8, 2000 | 38* | 2000 |
| High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative C Fuster-García, G García-García, T Jaijo, N Fornés, C Ayuso, ... Scientific Reports 8 (1), 17113, 2018 | 34 | 2018 |
| DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 MA Moreno-Pelayo, S Modamio-Høybjør, A Mencia, I del Castillo, ... Journal of medical genetics 40 (11), 832-836, 2003 | 24 | 2003 |
| Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. F Tort, M Del Toro, W Lissens, J Montoya, M Fernàndez-Burriel, A Font, ... Clinical genetics 80 (3), 2011 | 21 | 2011 |
| The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. JC Cabrera, M Marti, F Rodriguez-Quiñones, A Chab&ás, ... Clinical genetics 63 (3), 2003 | 18 | 2003 |
| Anemia and functional incapacity at admission to a geriatric home AL BJ, SA JL, BM CC Anales de Medicina Interna (Madrid, Spain: 1984) 18 (1), 9-12, 2001 | 17 | 2001 |
| Xq26. 2-q26. 3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization I Madrigal, M Fernández-Burriel, L Rodriguez-Revenga, JC Cabrera, ... Journal of human genetics 55 (12), 822-826, 2010 | 14 | 2010 |
| Molecular diagnosis of adult dominant polycystic kidney disease in the Canary Islands MJ Torres, RP Jc, HS CR, A Anabitarte, A Caballero, C Vazquez, ... Nefrologia: Publicacion Oficial de la Sociedad Espanola Nefrologia 26 (6 …, 2006 | 12 | 2006 |
| Williams–Beuren syndrome and West “syndrome:” Causal association or contiguous gene deletion syndrome? MFB Tercero, JC Cabrera López, MM Herrero, F Rodríguez‐Quiñones American Journal of Medical Genetics Part A 133 (2), 213-215, 2005 | 12 | 2005 |
| Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles S Castellví-Bel, M Fernández-Burriel, M Rifé, D Jiménez, J Mallolas, ... Human genetics 107, 195-196, 2000 | 11 | 2000 |
| Diagnóstico molecular de la poliquistosis renal autosómica dominante en la Comunidad Autónoma de Canarias MJ Torres, JC Rodríguez, CR Hernández, A Anabitarte, A Caballero, ... Nefrologia 26, 666-72, 2006 | 9 | 2006 |
| Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn MFB Tercero, AM Honrubia, NS Serra, MN López, JC Seijas, ... Thrombosis and haemostasis 94 (07), 216-218, 2005 | 9 | 2005 |
| Identification of a conserved, reiterated DNA region that influences the efficiency of nodulation in strain RS1051 of Rhizobium leguminosarum bv. trifolii F Rodríguez-Quiñones, M Fernández-Burriel, Z Banzalvi, M Megías, ... Mol Plant-Microbe Interact 2, 75-83, 1989 | 9 | 1989 |
| TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum I Arroyo Carrera, M Fernández‐Burriel, P Lapunzina, JA Tenorio, ... Clinical genetics 99 (6), 812-817, 2021 | 8 | 2021 |
| Paroxysmal stereotypy-tic-dystonia syndrome JC Cabrera-Lopez, M Marti-Herrero, M Fernandez-Burriel, ... Revista de Neurologia 36 (8), 729-734, 2003 | 7* | 2003 |
| Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree M Torrado, E Maneiro, A Lamounier Junior, M Fernández-Burriel, ... Scientific Reports 12 (1), 7284, 2022 | 6 | 2022 |
| A Novel Delins Mutation in the α-TTP Gene in a Family Segregating Ataxia With Isolated Vitamin E Deficiency M Fernández-Burriel, D Martínez-Rubio, V Lupo, V Pérez-Colosía, ... Pediatric research 64 (3), 262-264, 2008 | 6 | 2008 |
| A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness M Fernández-Burriel, F Rodríguez-Quiñones Genetic Testing 7 (2), 147-149, 2003 | 6 | 2003 |
Luis Peña QuintanaCatedrático de Pediatría. Universidad de Las Palmas de Gran CanariaVerified email at ulpgc.es
