List of works - Elena Vallespín

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes ⬇️

scientific article published on September 17, 2012

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

scientific article published on 28 August 2015

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

scientific article published in 2021

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

scientific article

Gene symbol: ABCA4. Disease: Macular dystrophy

scientific article published in June 2008

Gene symbol: ABCA4. Disease: Macular dystrophy

scientific article published in October 2008

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: CRB1

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510

scientific article published in February 2006

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile

scientific article published on June 1, 2008

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

scientific article published in December 2005

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

scientific article published on September 17, 2012

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

scientific article published on 21 February 2018

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

scientific article published on February 5, 2013

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

scientific article

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis

scientific article published on 01 April 2010

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

scientific article published on 8 April 2015

PLP1 gene analysis in 88 patients with leukodystrophy ⬇️

scientific article published on March 11, 2013

Somatic activating mutations in cause generalized lymphatic anomaly

scientific article published on 27 December 2018

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

scientific article

List of works by Elena Vallespín

A new overgrowth syndrome is due to mutations in RNF125.

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes ⬇️

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

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

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

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: CRB1

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile

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

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

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

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

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

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

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

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

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis

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

PLP1 gene analysis in 88 patients with leukodystrophy ⬇️

Somatic activating mutations in cause generalized lymphatic anomaly

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