Lista de obras -

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

artículo científico publicado en 2009

A rare example of germ-line chromothripsis resulting in large genomic imbalance

artículo científico publicado en 2016

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

artículo científico publicado en 2010

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

artículo científico publicado en 2014

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

artículo científico publicado en 2014

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

artículo científico publicado en 2006

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

article published in 2018

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

artículo científico publicado en 2010

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

artículo científico publicado en 2002

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

artículo científico publicado en 2016

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

artículo científico publicado en 2014

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

artículo científico publicado en 2018

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

artículo científico publicado en 2012

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

scientific article published on April 2014

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

artículo científico publicado en 2015

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

artículo científico publicado en 2016

Early onset seizures and Rett-like features associated with mutations in CDKL5.

artículo científico publicado en 2005

Familial unilateral Brown syndrome

artículo científico publicado en 2008

Further delineation of the KAT6B molecular and phenotypic spectrum

artículo científico publicado en 2014

Gene symbol: ALMS1.

artículo científico publicado en 2007

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

artículo científico publicado en 2014

Infectious bronchitis virus replication in the chicken embryo related cell line.

artículo científico publicado en 2003

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia

artículo científico publicado en 2013

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

artículo científico publicado en 2006

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

artículo científico publicado en 2009

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

artículo científico

NTNG1 mutations are a rare cause of Rett syndrome

artículo científico publicado en 2006

Neuronal migration, cerebral cortical development, and cerebral cortical anomalies

artículo científico publicado en 2002

Neuropsychiatric disease in patients with periventricular heterotopia.

artículo científico

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

artículo científico publicado en 2013

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

artículo científico publicado en 2016

Phenotypic spectrum associated with CASK loss-of-function mutations

artículo científico publicado en 2011

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation

artículo científico publicado en 2006

Ramos-Arroyo syndrome: confirmation of an entity

artículo científico publicado en 2011

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

artículo científico publicado en 2010

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

artículo científico publicado en 2003

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

scientific article published on 14 November 2019

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

artículo científico publicado en 2010

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

artículo científico publicado en 2015

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

artículo científico publicado en 2018

The genetics of lissencephaly

artículo científico publicado en 2014

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

Wild rabies virus detection by plaque assay from naturally infected brains in different species

artículo científico publicado en 2004

Lista de obras de

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

A rare example of germ-line chromothripsis resulting in large genomic imbalance

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Early onset seizures and Rett-like features associated with mutations in CDKL5.

Familial unilateral Brown syndrome

Further delineation of the KAT6B molecular and phenotypic spectrum

Gene symbol: ALMS1.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Infectious bronchitis virus replication in the chicken embryo related cell line.

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

NTNG1 mutations are a rare cause of Rett syndrome

Neuronal migration, cerebral cortical development, and cerebral cortical anomalies

Neuropsychiatric disease in patients with periventricular heterotopia.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

Phenotypic spectrum associated with CASK loss-of-function mutations

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation

Ramos-Arroyo syndrome: confirmation of an entity

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

The genetics of lissencephaly

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Wild rabies virus detection by plaque assay from naturally infected brains in different species