Lista de obras -

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

artículo científico publicado en 2008

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

artículo científico publicado en 2005

Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males

artículo científico publicado en 2006

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

artículo científico publicado en 2009

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

article published in 2018

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

artículo científico publicado en 2008

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

artículo científico publicado en 2015

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

artículo científico publicado en 2012

Expression of the SMADIP1 gene during early human development

artículo científico publicado en 2002

Features of the developing brain

artículo científico publicado en 2003

GFAPdelta in radial glia and subventricular zone progenitors in the developing human cortex

artículo científico publicado en 2010

Identification of brain malformations: neuropathological approach

artículo científico publicado en 2003

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

artículo científico publicado en 2012

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

artículo científico publicado en 2011

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

artículo científico publicado en 2004

Mosaic trisomy 9 and lobar holoprosencephaly

artículo científico publicado en 2002

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

artículo científico publicado en 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

artículo científico publicado en 2012

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

artículo científico publicado en 2007

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

artículo científico publicado en 2008

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association

artículo científico publicado en 2007

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

artículo científico publicado en 2007

Stress-induced unfolded protein response contributes to Zika virus-associated microcephaly

artículo científico publicado en 2017

TCTN3 mutations cause Mohr-Majewski syndrome

artículo científico publicado en 2012

The spectrum of type III lissencephaly: a clinicopathological update

artículo científico publicado en 2004

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

artículo científico publicado en 2002

Lista de obras de

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

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

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Expression of the SMADIP1 gene during early human development

Features of the developing brain

GFAPdelta in radial glia and subventricular zone progenitors in the developing human cortex

Identification of brain malformations: neuropathological approach

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

Mosaic trisomy 9 and lobar holoprosencephaly

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

OTX2 mutations contribute to the otocephaly-dysgnathia complex

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

Stress-induced unfolded protein response contributes to Zika virus-associated microcephaly

TCTN3 mutations cause Mohr-Majewski syndrome

The spectrum of type III lissencephaly: a clinicopathological update

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation