Lista de obras - Julie Désir - Dominio Público Uruguay

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

artículo científico publicado en 2015

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

artículo científico publicado en 2018

Autosomal recessive primary microcephaly due to ASPM mutations: An update

artículo científico publicado en 2017

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

artículo científico publicado en 2007

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

artículo científico publicado en 2017

Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families

artículo científico publicado en 2019

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

artículo científico publicado en 2021

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

artículo científico publicado en 2008

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

artículo científico publicado en 2012

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

artículo científico publicado en 2015

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

artículo científico

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

artículo científico publicado en 2017

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

artículo científico publicado en 2012

Gender differences and inflammation: an in vitro model of blood cells stimulation in prepubescent children

artículo científico publicado en 2010

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

artículo científico publicado en 2022

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

artículo científico publicado en 2021

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

artículo científico

Iron overload in gestational alloimmune liver disease: still more questions than answers ⬇️

artículo científico publicado el 4 de mayo de 2012

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

artículo científico publicado en 2012

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

artículo científico publicado en 2010

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation

artículo científico publicado en 2020

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

artículo científico publicado en 2007

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

artículo científico publicado en 2017

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

artículo científico publicado en 2010

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation

artículo científico publicado en 2019

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

artículo científico publicado en 2020

Novel mutations in prenatal diagnosis of primary microcephaly

scientific article published on 01 October 2006

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

artículo científico publicado en 2019

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data

artículo científico publicado en 2006

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

artículo científico publicado en 2020

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

scientific article published on 01 June 2008

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

artículo científico publicado en 2013

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

artículo científico publicado en 2015

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

artículo científico publicado en 2015

Rfx6 directs islet formation and insulin production in mice and humans

artículo científico publicado en 2010

Severe X-linked chondrodysplasia punctata in nine new female fetuses

artículo científico publicado en 2015

Sex Differences in Inflammatory Cytokines and CD99 Expression Following In Vitro Lipopolysaccharide Stimulation ⬇️

artículo científico publicado el 1 de julio de 2012

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the sameCOL2A1mutation

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

artículo científico publicado en 2012

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

article

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

artículo científico publicado en 2020

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

artículo científico publicado en 2016

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

artículo científico publicado en 2013

Lista de obras de Julie Désir

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Gender differences and inflammation: an in vitro model of blood cells stimulation in prepubescent children

Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Iron overload in gestational alloimmune liver disease: still more questions than answers ⬇️

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

Novel mutations in prenatal diagnosis of primary microcephaly

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

Rfx6 directs islet formation and insulin production in mice and humans

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Sex Differences in Inflammatory Cytokines and CD99 Expression Following In Vitro Lipopolysaccharide Stimulation ⬇️

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the sameCOL2A1mutation

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans