E. Vallespín

发表

The impact of next-generation sequencing on the DNA methylation-based translational cancer research.

J. Soto, C. Rodríguez-Antolín, E. Vallespín, 2016, Translational research : the journal of laboratory and clinical medicine.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Á. Carracedo, F. Cremers, M. Cortón, 2014, Ophthalmology.

PLP1 gene analysis in 88 patients with leukodystrophy

J. Nevado, E. Vallespín, C. Sierra, 2013, Clinical genetics.

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

J. Surrallés, P. Lapunzina, M. Bogliolo, 2021, HemaSphere.

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

P. Lapunzina, R. Perona, M. Molina-Molina, 2019, Orphanet Journal of Rare Diseases.

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

E. Vallespín, C. Ayuso, D. Valverde, 2007, Molecular vision.

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

F. Cremers, E. Aller, J. Millán, 2010, Molecular vision.

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

R. Wilke, E. Vallespín, C. Ayuso, 2008, Molecular vision.

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

E. Vallespín, C. Ayuso, R. Riveiro-Álvarez, 2008, Molecular vision.

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

R. Wilke, E. Vallespín, C. Ayuso, 2008, Investigative ophthalmology & visual science.

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

P. Lapunzina, J. Nevado, J. Cameselle-Teijeiro, 2017, Scientific Reports.

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

P. Lapunzina, J. Nevado, J. Rosell, 2015, American journal of medical genetics. Part A.

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

P. Lapunzina, H. Seuánez, E. Vallespín, 2015, PloS one.

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2014, BMC Medical Genetics.

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.

P. Lapunzina, J. Nevado, M. Milá, 2013, Gene.

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2017, Revista espanola de cardiologia.

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2008, British Journal of Ophthalmology.

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2008, British Journal of Ophthalmology.

New type of mutations in three spanish families with choroideremia.

P. Gómez-Garre, E. Vallespín, C. Ayuso, 2008, Investigative ophthalmology & visual science.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

P. Lapunzina, J. Nevado, M. Cortón, 2017, PloS one.

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation

J. Nevado, E. Vallespín, L. Rodríguez, 2011, American journal of medical genetics. Part A.

Next generation sequencing in the diagnosis of Stargardt's disease.

J. Silla, E. Vallespín, B. Jimenez-Rolando, 2017, Archivos de la Sociedad Espanola de Oftalmologia.

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

E. Vallespín, C. Ayuso, M. Trujillo-Tiebas, 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, Genetics in Medicine.

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported

E. Vallespín, Á. Del Pozo, K. Heath, 2016, American journal of medical genetics. Part A.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

A. Offiah, C. Sánchez-Garre, E. Vallespín, 2018, Clinical endocrinology.

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

P. Lapunzina, K. Ibáñez, J. López-Gutiérrez, 2018, The Journal of experimental medicine.

A New Overgrowth Syndrome is due to Mutations in RNF125

J. Dopazo, D. Montaner, E. López-Granados, 2014, Human mutation.

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation

E. Vallespín, L. García-Fernández, M. Solís, 2022, International journal of molecular sciences.

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

F. Santos-Simarro, E. Vallespín, Á. Del Pozo, 2021, Genes.

AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis

Madeline A. Lancaster, A. D. den Hollander, F. Cremers, 2010, Nature Genetics.

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10

T. Eggermann, E. Vallespín, M. Begemann, 2012, American journal of medical genetics. Part A.

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

F. Santos-Simarro, E. Vallespín, Á. Del Pozo, 2023, Current issues in molecular biology.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

J. Cigudosa, B. Gener, L. Pérez-Jurado, 2022, Frontiers in Genetics.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Stephanie E. Vallee, J. Rosenfeld, C. Haldeman-Englert, 2015, European Journal of Human Genetics.

Customized high resolution CGH‐array for clinical diagnosis reveals additional genomic imbalances in previous well‐defined pathological samples

P. Lapunzina, J. Nevado, R. Martin, 2013, American journal of medical genetics. Part A.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

M. Fraga, M. Esteller, P. Lapunzina, 2016, American journal of medical genetics. Part A.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Sixto García-Miñaur, Sally Ann Lynch, Göran Annerén, 2011, American journal of human genetics.

Clinical and molecular description of 16 families with heterozygous IHH variants.

Gabriela A. Vasques, C. de la Torre, E. Vallespín, 2020, The Journal of clinical endocrinology and metabolism.

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

S. Borrego, M. Baiget, E. Vallespín, 2009, Investigative ophthalmology & visual science.

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.

E. Gallardo, P. Lapunzina, C. Pritchard, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2018, Genetics in Medicine.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

P. Lapunzina, J. Nevado, E. Vallespín, 2016, Molecular genetics & genomic medicine.

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

F. Santos-Simarro, E. Vallespín, Á. Del Pozo, 2022, International journal of molecular sciences.

mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2018, Clinical genetics.

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.

R. Wilke, E. Vallespín, C. Ayuso, 2007, Investigative ophthalmology & visual science.

Loss of function BMP4 mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency

F. J. Rodríguez-Contreras, E. Vallespín, Á. Del Pozo, 2019, American journal of medical genetics. Part A.

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

M. Baiget, M. Cortón, E. Vallespín, 2013, Orphanet Journal of Rare Diseases.

New microdeletion and microduplication syndromes: A comprehensive review

P. Lapunzina, J. Nevado, R. Mena, 2013, Genetics and molecular biology.

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X

E. Vallespín, Á. Del Pozo, J. Moreno, 2018, Journal of the Endocrine Society.

A new variant in PHKA2 is associated with glycogen storage disease type IXa

P. Lapunzina, F. Santos-Simarro, R. Mena, 2017, Molecular genetics and metabolism reports.

Living donor renal transplantation in Catalonia: overall results and comparison of survival with cadaveric donor renal transplantation.

E. Vallespín, R. García-Maset, L. G. Perich, 2005, Transplantation proceedings.

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

P. Lapunzina, K. Ibáñez, E. Vallespín, 2020, Clinical genetics.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, bioRxiv.

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2007, Molecular vision.

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2009, Human Genetics.

FGF9 mutation causes craniosynostosis along with multiple synostoses

F. Santos-Simarro, M. Glucksman, E. Vallespín, 2017, Human mutation.

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, Clinical genetics.

Uveal melanoma in a 19-month-old child.

J. Nevado, E. Vallespín, J. Solera, 2011, Journal of AAPOS.

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

F. Santos-Simarro, E. Vallespín, Á. Del Pozo, 2021, Genes.

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

C. Amiñoso, E. Vallespín, L. Fernández, 2013, Gene.

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

R. Mena, Carmen Rodríguez-Jiménez, E. Vallespín, 2023, International journal of molecular sciences.

Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2007, Human Genetics.

Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2007, Human Genetics.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

E. Vallespín, C. Ayuso, D. Cantalapiedra, 2005, Human genetics.

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2010, Human genetics.

The impact of next-generation sequencing on the DNA methylation-based translational cancer research.

J. Soto, C. Rodríguez-Antolín, E. Vallespín, 2016, Translational research : the journal of laboratory and clinical medicine.

Gene symbol: NDP. Disease: Norrie disease.

E. Vallespín, C. Ayuso, D. Cantalapiedra, 2006, Human genetics.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

F. Santos-Simarro, J. Nevado, C. de la Torre, 2021, European journal of endocrinology.

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

E. Vallespín, C. Ayuso, A. Avila-Fernandez, 2008, British Journal of Ophthalmology.

New microdeletion and microduplication syndromes: A comprehensive review

P. Lapunzina, J. Nevado, R. Mena, 2013, Genetics and molecular biology.

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

P. Lapunzina, K. Ibáñez, J. López-Gutiérrez, 2018, The Journal of experimental medicine.