S. Mayo

发表

Prenatal Diagnosis of a Female Fetus with Ring Chromosome 9, 46,XX,r(9)(p24q34), and a de novo Interstitial 9p Deletion

L. Alcaraz, V. Penacho, F. Galán, 2015, Cytogenetic and Genome Research.

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.

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.

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

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

Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern

J. Lupski, R. Gibbs, D. Muzny, 2016, Human mutation.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

P. Marynen, T. Bose, M. Roselló, 2012, American journal of human 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.

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

J. Benito-León, F. Martínez, S. Mayo, 2022, International journal of molecular sciences.

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

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

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.

The Arabidopsis heavy metal P-type ATPase HMA5 interacts with metallochaperones and functions in copper detoxification of roots.

D. Thiele, J. Ecker, S. Rodríguez-Navarro, 2006, The Plant journal : for cell and molecular biology.

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

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

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

Carolyn J. Brown, M. Marra, F. Zahir, 2016, American journal of medical genetics. Part A.

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

F. Martínez, P. Lapunzina, E. Fernandez-Rebollo, 2012, The Journal of clinical endocrinology and metabolism.

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

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

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.

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature

J. Benito-León, F. Martínez, S. Mayo, 2021, International journal of molecular sciences.

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.

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.

Breastfeeding and COVID-19 Vaccine: Yes We Can.

S. Mayo, S. Monfort, 2021, Journal of human lactation : official journal of International Lactation Consultant Association.

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

A. Delmiro, S. Mayo, D. Escribano, 2018, BioMed research international.

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.

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.

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants

S. Mayo, I. Gómez-Manjón, F. J. Fernández-Martínez, 2023, International journal of molecular sciences.

Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.

S. Mayo, D. Escribano, I. Gómez-Manjón, 2022, European journal of obstetrics, gynecology, and reproductive biology.

[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.

Clinical laboratory automated urinalysis: comparison among automated microscopy, flow cytometry, two test strips analyzers, and manual microscopic examination of the urine sediments

M. Sancho, S. Mayo, C. Quiñones-Torrelo, 2008, Journal of clinical laboratory analysis.

Prenatal Diagnosis of a Female Fetus with Ring Chromosome 9, 46,XX,r(9)(p24q34), and a de novo Interstitial 9p Deletion

L. Alcaraz, F. Galán, S. Mayo, 2015, Cytogenetic and Genome Research.

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

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

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

S. Mayo, Francisco Martínez, Alba Gabaldon-Albero, 2024, International journal of molecular sciences.