S. Monfort

发表

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability

F. Martínez, Ana Victoria Marco Hernández, Alfonso Caro, 2021, American journal of medical genetics. Part A.

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.

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.

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.

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development

F. Martínez, M. Tomás Vila, S. Monfort, 2022, Journal of child neurology.

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.

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.

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.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, 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.

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.

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.

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.

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.

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.

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.

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

F. Martínez, Ana Victoria Marco Hernández, M. Tomás Vila, 2021, Frontiers in Neurology.

A subtelomeric translocation apparently implied in multiple abortions

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

Clinical findings and molecular characterization of six subtelomeric imbalances

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

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.

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

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