S. Oltra

发表

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care

J. M. Fernández, M. Tasso, A. Cañete, 2021, Cancers.

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease

C. Orellana, F. Martínez, A. Cañete, 2011, Molecular carcinogenesis.

Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients

C. Orellana, F. Martínez, A. Cañete, 2010, Journal of Cancer Research and Clinical Oncology.

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.

I. Chirivella, C. Lázaro, G. Capellá, 2014, European journal of cancer.

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes

J. Cigudosa, D. Blesa, K. Kok, 2008, Journal of Medical Genetics.

Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma

C. Orellana, F. Martínez, A. Cañete, 2011, Journal of Cancer Research and Clinical Oncology.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome

M. Roselló, C. Orellana, F. Martínez, 2015, American journal of medical genetics. Part A.

Li–Fraumeni syndrome heterogeneity

A. Cañete, P. Gargallo, V. Segura, 2019, Clinical and Translational Oncology.

Germline variant in Ctcf links mental retardation to Wilms tumor predisposition

F. Martínez, M. Tasso, A. Cañete, 2022, European Journal of Human Genetics.

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

M. Roselló, C. Orellana, F. Martínez, 2015, American journal of medical genetics. Part A.

Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing

M. Roselló, C. Orellana, F. Martínez, 2020, Pediatric Research.

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

M. Roselló, C. Orellana, F. Martínez, 2015, Genetics in Medicine.

Mutation screening of USH3 gene (clarin‐1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

E. Aller, J. Millán, T. Jaijo, 2004, Clinical genetics.

Duplication at Xq13.3–q21.1 with syndromic intellectual disability, a probable role for the ATRX gene

M. Roselló, C. Orellana, F. Martínez, 2014, American journal of medical genetics. Part A.

Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

M. Roselló, C. Orellana, F. Martínez, 2009, American journal of medical genetics. Part A.

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

M. Roselló, C. Orellana, F. Martínez, 2016, Journal of Medical Genetics.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation

J. Ramser, A. Meindl, F. Martínez, 2007, European Journal of Human Genetics.

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

M. Roselló, C. Orellana, F. Martínez, 2016, Pediatric Research.

The Doublecortin Gene, A New Molecular Marker to Detect Minimal Residual Disease in Neuroblastoma

C. Orellana, F. Martínez, J. M. Fernández, 2005, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Phenotype profiling of patients with intellectual disability and copy number variations.

M. Roselló, C. Orellana, F. Martínez, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

M. Roselló, C. Orellana, F. Martínez, 2009, Journal of Inherited Metabolic Disease.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.

MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors

C. Orellana, F. Martínez, J. M. Fernández, 2009, Journal of Cancer Research and Clinical Oncology.

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.

M. Roselló, C. Orellana, F. Martínez, 2009, Reproductive Biomedicine Online.

Prevalence of pathogenic copy number variants among children conceived by donor oocyte

M. Roselló, C. Orellana, F. Martínez, 2021, Scientific Reports.

Autosomal‐dominant hypohidrotic ectodermal dysplasia caused by a novel mutation

F. Martínez, I. Ferrer, G. Pérez-Pastor, 2008, Journal of the European Academy of Dermatology and Venereology : JEADV.

Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion

M. Roselló, C. Orellana, F. Martínez, 2009, Cytogenetic and Genome Research.

Rapid screening of ASXL1, IDH1, IDH2, and c-CBL mutations in de novo acute myeloid leukemia by high-resolution melting.

E. Barragán, J. Cervera, M. Sanz, 2012, The Journal of molecular diagnostics : JMD.

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

D. Blesa, M. Roselló, C. Orellana, 2010, BMC Medical Genomics.

Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma

C. Orellana, F. Martínez, A. Cañete, 2009, Journal of Neuro-Oncology.

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

E. Aller, J. Millán, G. Antiñolo, 2006, Journal of Medical Genetics.

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin–Lowry syndrome

C. Orellana, F. Martínez, F. Prieto, 2003, Clinical genetics.

Review: Ewing Sarcoma Predisposition

A. Cañete, P. Gargallo, V. Segura, 2019, Pathology & Oncology Research.

Retinoblastoma and mosaic 13q deletion: a case report

A. Cañete, P. Gargallo, V. Segura, 2021, International Journal of Retina and Vitreous.

Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

M. Roselló, C. Orellana, F. Martínez, 2010, European journal of medical genetics.

Duplication of 14q11.2 associates with short stature and mild mental retardation: A putative relation with quantitative trait loci

J. Cigudosa, D. Blesa, M. Roselló, 2007, American journal of medical genetics. Part A.

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

M. Roselló, C. Orellana, F. Martínez, 2015, BioMed Research International.

Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.

M. Roselló, C. Orellana, F. Martínez, 2006, Genetic testing.

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

M. Roselló, C. Orellana, F. Martínez, 2015, Pediatric Research.

Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)

I. Chirivella, D. Salas, J. López-Guerrero, 2019, Hereditary cancer in clinical practice.

Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum

M. Roselló, C. Orellana, F. Martínez, 2007, Journal of Medical Genetics.

De novo Interstitial Triplication of MECP2 in a Girl with Neurodevelopmental Disorder and Random X Chromosome Inactivation

M. Roselló, C. Orellana, F. Martínez, 2011, Cytogenetic and Genome Research.

WT1 isoform expression pattern in acute myeloid leukemia.

P. Bolufer, E. Barragán, J. Cervera, 2013, Leukemia research.

Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients

P. Bolufer, E. Barragán, J. Cervera, 2012, Annals of Hematology.

Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts.

J. Cervera, M. Sanz, A. Valencia, 2011, Leukemia research.

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

M. Roselló, C. Orellana, F. Martínez, 2017, International journal of genomics.

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

M. Roselló, C. Orellana, F. Martínez, 2011, Cytogenetic and Genome Research.

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

M. Roselló, C. Orellana, F. Martínez, 2006, The Journal of laboratory and clinical medicine.

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

B. V. van Bon, K. Grzeschik, R. Happle, 2011, Experimental dermatology.

Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44

M. Roselló, C. Orellana, F. Martínez, 2010, Cytogenetic and Genome Research.

There is no evidence that the SDHB gene is involved in neuroblastoma development.

C. Orellana, F. Martínez, V. Castel, 2005, Oncology research.

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

M. Roselló, C. Orellana, F. Martínez, 2012, Journal of Human Genetics.

Age does not appear to be a major indicator of CDKN2A or CDK4 mutations in melanoma patients in Spain

R. Botella-Estrada, E. Nagore, J. M. Millán, 2005, Melanoma research.

Standardisation of operating procedures for the detection of minimal disease by QRT-PCR in children with neuroblastoma: quality assurance on behalf of SIOPEN-R-NET.

Ruth Ladenstein, A. Vicha, S. Burchill, 2007, European journal of cancer.

A case of spanish language disorders with a rare genetic cause

M. Roselló, C. Orellana, F. Martínez, 2009 .

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males

M. Roselló, C. Orellana, F. Martínez, 2012, British journal of haematology.

TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients

M. Bermúdez, A. Cañete, D. Hervás, 2016, Journal of Cancer Research and Clinical Oncology.

Genome-wide DNA methylation profiling in anorexia nervosa discordant identical twins

L. Rojo-Moreno, L. Rojo-Bofill, F. Vaz-Leal, 2022, Translational Psychiatry.

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

M. Beneyto, I. Ejarque, A. Pérez-Aytés, 2015, Revista de neurologia.

Minimal residual disease in neuroblastoma: to GAGE or not to GAGE.

C. Orellana, F. Martínez, A. Cañete, 2004, Oncology Research.

Screening for microdeletions of the X‐chromosome in non‐specific mental retardation

C. Orellana, F. Martínez, M. Moltó, 2004, American Journal of Medical Genetics. Part A.

Clinical findings and molecular characterization of six subtelomeric imbalances

M. Roselló, C. Orellana, F. Martínez, 2007, Clinical genetics.

Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea

C. Ribes-Koninckx, E. Donat, S. Oltra, 2019, Journal of Pediatric Genetics.

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

E. Aller, G. Antiñolo, F. Moreno, 2006, Human mutation.

Localization of MRX82: A new nonsyndromic X‐linked mental retardation locus to Xq24‐q25 in a Basque family

C. Orellana, F. Martínez, M. Moltó, 2004, American journal of medical genetics. Part A.

[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].

M. Roselló, C. Orellana, F. Martínez, 2014, Medicina clinica.

Gene Microdeletions in Adult and Pediatric Acute Lymphoblastic Leukemia

P. Bolufer, E. Barragán, A. Verdeguer, 2011 .

Tumour banks in pediatric oncology

A. Cañete, J. Balaguer, V. Castel, 2006, Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico.

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)

M. Tormo, J. Cervera, M. Sanz, 2017, Leukemia & lymphoma.

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

M. Roselló, C. Orellana, F. Martínez, 2013, Molecular human reproduction.