Lista de obras - Valerie Delague - Dominio Público Uruguay

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family

artículo científico publicado en 2002

A new autosomal recessive oto-facial syndrome with midline malformations

artículo científico publicado en 2005

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.

artículo científico publicado en 2003

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

scientific article published on 31 July 2018

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

artículo científico publicado en 2011

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

scientific article published on 10 November 2018

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

artículo científico publicado en 2011

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

artículo científico publicado en 2013

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

artículo científico publicado en 2004

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

artículo científico publicado en 2005

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

artículo científico publicado en 2001

Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna R298C/R298C

scientific article published on 14 February 2012

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

artículo científico publicado en 2010

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

artículo científico publicado en 2006

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family

artículo científico publicado en 2000

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

artículo científico publicado en 2012

Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.

artículo científico publicado en 2007

Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations ⬇️

artículo científico publicado el 1 de noviembre de 2001

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations

artículo científico publicado en 2005

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

artículo científico publicado en 2001

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

artículo científico publicado en 2010

Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.

artículo científico publicado en 2006

Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.

artículo científico publicado en 2002

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

artículo científico publicado en 2008

Further delineation of the odonto-onycho-dermal dysplasia syndrome

artículo científico publicado en 2004

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

artículo científico publicado en 2005

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

scientific article published on 07 January 2020

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

artículo científico publicado en 2019

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

artículo científico publicado en 2000

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

artículo científico publicado en 2006

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

artículo científico publicado en 2011

Molecular study ofWISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

Mutational Analysis in Lebanese Patients with Congenital Adrenal Hyperplasia due to a Deficit in 21-Hydroxylase

artículo científico publicado en 2000

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

artículo científico publicado en 2007

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

artículo científico publicado en 2011

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

artículo científico publicado en 2015

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations

artículo científico publicado en 2002

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

artículo científico publicado en 2015

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

artículo científico publicado en 2003

Population structure in the Mediterranean basin: a Y chromosome perspective

artículo científico publicado en 2006

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

artículo científico publicado en 2015

Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever

artículo científico publicado en 2004

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

artículo científico publicado en 2017

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

artículo científico publicado en 2005

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

artículo científico publicado en 2014

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

artículo científico publicado en 2012

W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

artículo científico publicado en 2000

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

artículo científico publicado en 2015

Lista de obras de Valerie Delague

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family

A new autosomal recessive oto-facial syndrome with midline malformations

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna R298C/R298C

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.

Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations ⬇️

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.

Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

Further delineation of the odonto-onycho-dermal dysplasia syndrome

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

Molecular study ofWISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

Mutational Analysis in Lebanese Patients with Congenital Adrenal Hyperplasia due to a Deficit in 21-Hydroxylase

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

Population structure in the Mediterranean basin: a Y chromosome perspective

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease