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Magdalena Beneyto

Observed names: M Beneyto, M. Beneyto
OpenAlex ID: A5111871369
Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development
2010 · L. Audi, M. Fernández-Cancio, et al. · The Journal of Clinical Endocrinology & Metabolism · 143
Mutations in the Pre-mRNA Splicing-Factor Genes PRPF3 , PRPF8 , and PRPF31 in Spanish Families with Autosomal Dominant Retinitis Pigmentosa
2003 · Mari´a Marti´nez-Gimeno, Mari´a Jose´ Gamundi, et al. · Investigative Ophthalmology & Visual Science · 100
A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation
2001 · Bo Dreyer, Lisbeth Tranebjærg, et al. · The American Journal of Human Genetics · 80
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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
2006 · E Aller, T Jaijo, et al. · Journal of Medical Genetics · 79
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MYO7A mutation screening in Usher syndrome type I patients from diverse origins
2007 · T Jaijo, E Aller, et al. · Journal of Medical Genetics · 70
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Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome
2010 · Teresa Jaijo, Elena Aller, et al. · Investigative Ophthalmology & Visual Science · 64
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
2004 · Elena Aller, Carmen Nájera, et al. · European Journal of Human Genetics · 60
Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively
2002 · Carmen Nájera, Magdalena Beneyto, et al. · Human Mutation · 53
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Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
2006 · T. Jaijo, E. Aller, et al. · Human Mutation · 49
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Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma
2006 · Francisco Sánchez-Sánchez, Carmen Ramírez-Castillejo, et al. · Human Mutation · 48
Epidemiology of Usher Syndrome in Valencia and Spain
1998 · C. Espinós, J.M. Millán, et al. · Public Health Genomics · 44
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation
2011 · M. Fernández-Cancio, L. Audí, et al. · International Journal of Andrology · 41
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Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis
2006 · B. Ezquieta, M. Beneyto, et al. · Prenatal Diagnosis · 40
11q23 abnormalities in children with acute nonlymphocytic leukemia (M4–M5)
1990 · Félix Prieto, Francisco Palau, et al. · Cancer Genetics and Cytogenetics · 39
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa
1994 · Gunnar Grüning, José M. Millan, et al. · Human Mutation · 36
Mutation screening of USH3 gene (clarin‐1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability
2004 · E Aller, T Jaijo, et al. · Clinical Genetics · 34
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
1999 · Maria Giuseppina Miano, Francesco Testa, et al. · European Journal of Human Genetics · 31
Epidemiology of retinitis pigmentosa in the valencian community (Spain)
1995 · C. Nájera, J. M. Millán, et al. · Genetic Epidemiology · 30
Severe and moderate hemophilia A: identification of 38 new genetic alterations
2008 · P. Casana, N. Cabrera, et al. · Haematologica · 26
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Identification of three novel mutations in the MYO7A gene
1999 · Jos� M. Cuevas, C. Espin�s, et al. · Human Mutation · 24
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Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families
1995 · M�nica Bay�s, Diana Valverde, et al. · Human Genetics · 22
Genetics of retinoblastoma: A study
1997 · Emilia Mateu, Francisco Sánchez, et al. · Cancer Genetics and Cytogenetics · 21
Linkage analysis in Usher syndrome type I (USH1) families from Spain.
1998 · C Espinós, C Nájera, et al. · Journal of Medical Genetics · 20
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Gene localization in a family with X‐linked syndromal mental retardation (Prieto syndrome)
1991 · Anke Watty, Félix Prieto, et al. · American Journal of Medical Genetics · 20
Malformación de Arnold-Chiari en el síndrome de Noonan y otros síndromes de la vía RAS/MAPK
2015 · Ismael Ejarque, José María Millán Salvador, et al. · Revista de Neurología · 16
Works count: 56
Citation count: 1,316
H-index: 21
I10-index: 31
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