List of works - Férechté Encha-Razavi

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

scientific article published on February 2008

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

scientific article

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

scientific article published in May 2006

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

scientific article

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

scientific article published in July 2008

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

scientific article

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

scientific article published on 9 February 2012

Expression of the SMADIP1 gene during early human development

scientific article

Features of the developing brain

scientific article

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

scientific article published in January 2010

Identification of brain malformations: neuropathological approach

scientific article published on 11 June 2003

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

scientific article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

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

scientific article published on April 2004

Mosaic trisomy 9 and lobar holoprosencephaly

scientific article published in August 2002

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

scientific article

OTX2 mutations contribute to the otocephaly-dysgnathia complex

scientific article published on 10 May 2012

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

scientific article

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

scientific article published in January 2008

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association

scientific article published in February 2007

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

scientific article

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

scientific article published on 11 December 2017

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

The spectrum of type III lissencephaly: a clinicopathological update

scientific article

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

scientific article

List of works by Férechté Encha-Razavi

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