M. Roselló

发表

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

Molecular characterization of Spanish patients with MECP2 duplication syndrome

M. Roselló, C. Orellana, M. Tejada, 2020, Clinical genetics.

Outcome of 185 pregnancies studied by prenatal genomic array technique: Bioethical reflections

M. Roselló, J. Aznar, J. Lluna-González, 2021, Clinical Ethics.

Expression of aquaporins early in human pregnancy.

M. Roselló, C. Orellana, A. Arduini, 2012, Early human development.

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.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

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.

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.

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.

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.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

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

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

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

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.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

A. Pagnamenta, Jenny C. Taylor, M. Roselló, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

Multi‐system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients

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

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.

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

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

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

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

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

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

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.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

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.

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.

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

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

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

M. Roselló, C. Orellana, F. Martínez, 2018, International journal of endocrinology and metabolism.

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.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

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

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

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

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.

Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

M. Roselló, C. Orellana, F. Martínez, 2019, Journal of Pediatric Genetics.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

J. Rosenfeld, P. Stankiewicz, R. Stevenson, 2021, American journal of human genetics.

Recombinant X chromosome in a prenatal diagnosis

M. Roselló, C. Orellana, F. Martínez, 2006, Cytogenetic and Genome Research.

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.

A subtelomeric translocation apparently implied in multiple abortions

M. Roselló, C. Orellana, F. Martínez, 2006, Journal of Assisted Reproduction and Genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Clinical findings and molecular characterization of six subtelomeric imbalances

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

[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.

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

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