Lista de obras - Sylvie Odent - Dominio Público Uruguay

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

artículo científico publicado en 2020

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

artículo científico publicado en 2020

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

artículo científico publicado en 2004

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

artículo científico publicado en 2003

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

artículo científico publicado en 2013

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

artículo científico publicado en 2017

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

artículo científico publicado en 2009

New insights into genotype-phenotype correlation for GLI3 mutations

artículo científico publicado en 2014

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

artículo científico publicado en 2012

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

artículo científico publicado en 2017

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

artículo científico publicado en 2009

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

artículo científico publicado en 2017

Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina).

artículo científico publicado en 2006

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

scientific journal article

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

artículo científico publicado en 2003

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance

artículo científico publicado en 2013

Lista de obras de Sylvie Odent

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

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

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

New insights into genotype-phenotype correlation for GLI3 mutations

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina).

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

Variants in CUL4B are associated with cerebral malformations

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance