Lista de obras - Monique Elmaleh-bergès - Dominio Público Uruguay

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures

artículo científico publicado en 2015

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

artículo científico publicado en 2006

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

artículo científico publicado en 2015

Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia

artículo científico publicado en 2008

Acute neurological involvement in diarrhea-associated hemolytic uremic syndrome

artículo científico publicado en 2010

Anomalies oculaires fœtales : apport de l’imagerie anténatale en résonance magnétique

artículo científico publicado en 2010

Association of Matched Sibling Donor Hematopoietic Stem Cell Transplantation With Transcranial Doppler Velocities in Children With Sickle Cell Anemia

artículo científico publicado en 2019

Audiophonological evaluation of 16 children fitted with cochlear implants for sensorineural hearing loss induced by bacterial meningitis

artículo científico publicado en 2013

Autosomal recessive primary microcephaly due to ASPM mutations: An update

artículo científico publicado en 2017

Bronchial trifurcation in a congenital pulmonary venolobar syndrome

artículo científico publicado en 2001

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

artículo científico publicado en 2020

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption

artículo científico publicado en 2020

Central Diabetes Insipidus in Infancy With or Without Hypothalamic Adipsic Hypernatremia Syndrome: Early Identification and Outcome

artículo científico publicado en 2015

Cerebellar injury in premature infants less than 30 weeks of gestation

artículo científico publicado en 2011

Cervical Bronchogenic Cysts

article

Clinical and haematological risk factors for cerebral macrovasculopathy in a sickle cell disease newborn cohort: a prospective study.

artículo científico publicado en 2016

Computed Tomography measurements of the normal and the pathologic cochlea in children

artículo científico publicado en 2009

Computed tomography of the normal and pathologic temporal bone

artículo científico publicado en 2011

Contribution of fetal MR imaging in the evaluation of cerebral ischemic lesions.

artículo científico publicado en 2004

Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases

artículo científico publicado en 2005

Contribution of single-photon emission computed tomography in the diagnosis and follow-up of CNS toxicity of a cytarabine-containing regimen in pediatric leukemia

artículo científico publicado en 1999

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.

artículo científico publicado en 2015

Design of the DREPAGREFFE trial: A prospective controlled multicenter study evaluating the benefit of genoidentical hematopoietic stem cell transplantation over chronic transfusion in sickle cell anemia children detected to be at risk of stroke by t

artículo científico publicado en 2017

Detection of postoperative residual cholesteatoma with delayed contrast-enhanced MR imaging: initial findings.

artículo científico publicado en 2002

Diffusion magnetic resonance imaging of the fetal brain in intrauterine growth restriction.

artículo científico publicado en 2016

Direct foreign body footplate trauma: 3 cases

artículo científico publicado en 2000

Early-onset hyperargininaemia: a severe disorder?

artículo científico publicado en 2009

Effect of transfusion therapy on cerebral vasculopathy in children with sickle-cell anemia.

artículo científico publicado en 2008

Effects of systemic administration of methylprednisolone on residual hearing in an animal model of cochlear implantation

artículo científico publicado en 2010

Encéphalopathie myoneurogastro-intestinale

scientific article published on 29 September 2007

Extracranial carotid arteriopathy in stroke-free children with sickle cell anemia: detection by submandibular Doppler sonography

artículo científico publicado en 2014

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

artículo científico publicado en 2007

Fetal MRI: normal gestational landmarks for cerebral biometry, gyration and myelination

artículo científico publicado en 2003

Fetal cerebral cortex: normal gestational landmarks identified using prenatal MR imaging.

artículo científico publicado en 2001

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

artículo científico publicado en 2010

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

artículo científico publicado en 2010

Genetic and clinical aspects of lissencephaly

artículo científico publicado en 2007

Headache with focal neurologic signs in children at the emergency department.

artículo científico publicado en 2014

Helical CT Findings in Patients Who Have Undergone Stapes Surgery for Otosclerosis

artículo científico publicado en 2000

Heterozygous FA2H mutations in autism spectrum disorders

artículo científico publicado en 2013

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

artículo científico publicado en 2018

High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis.

artículo científico publicado en 2017

In utero eyeball development study by magnetic resonance imaging

artículo científico publicado en 1997

Increased cerebral blood flow velocity in children with sickle cell disease: adenotonsillectomy or transfusion regimens?

artículo científico publicado en 2007

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

artículo científico publicado en 2015

Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?

artículo científico publicado en 2013

Kingella kingae Sequence Type 25 Causing Endocarditis with Multiple and Severe Cerebral Complications.

artículo científico publicado en 2015

Laryngeal ultrasonography in infants and children: Pathological findings

artículo científico publicado en 1991

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type

artículo científico publicado en 2017

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

artículo científico publicado en 2020

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

artículo científico publicado en 2017

Multinodular and Vacuolating Posterior Fossa Lesions of Unknown Significance

artículo científico publicado en 2019

Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

artículo científico publicado en 2018

New spastic paraplegia phenotype associated to mutation of NFU1.

artículo científico publicado en 2015

Oculo-orbital anatomy and nuclear magnetic resonance: use in ocular growth and fetal pathology

artículo científico publicado en 1994

Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

artículo científico publicado en 2019

Pediatric ischemic stroke: acute management and areas of research.

artículo científico publicado en 2012

Pediatric salivary gland carcinomas: Diagnostic and therapeutic management

artículo científico publicado en 2016

Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence?

artículo científico publicado en 2010

Prenatal isolated mild ventriculomegaly: outcome in 167 cases

artículo científico publicado en 2006

Protective effect of systemic administration of erythropoietin on auditory brain stem response and compound action potential thresholds in an animal model of cochlear implantation

artículo científico publicado en 2011

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

artículo científico publicado en 2016

Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings

scientific article published on 01 January 2000

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation

artículo científico publicado en 2019

SOX10 mutations mimic isolated hearing loss

artículo científico publicado en 2014

Separate-lung ventilation strategy for reimplantation of esophageal bronchus

artículo científico publicado en 2002

Severe Snoring in a Child with Pycnodysostosis Treated with a Bilateral Rib Graft

scientific article published on 28 February 2008

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

artículo científico publicado en 2014

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification

artículo científico publicado en 2014

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

artículo científico publicado en 2012

Subperiosteal orbital abscess: volumetric criteria for surgical drainage

artículo científico publicado en 2014

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

artículo científico publicado en 2015

The deaf child: anatomy, etiologies and management

artículo científico publicado en 2006

The petrosquamosal sinus: CT and MR findings of a rare emissary vein

artículo científico publicado en 2001

Transnasal endoscopic repair of congenital defects of the skull base in children.

artículo científico publicado en 1999

Ultrasonographic evaluation of the tongue and the floor of the mouth: Normal and pathological findings

scientific article published on 01 January 1994

Un cas de syndrome de Lemierre avec thrombose veineuse jugulaire bilatérale

artículo científico publicado en 2003

Une perte de poids néonatale avec dégradation neurologique

artículo científico publicado en 2016

Unusual presentation of a first branchial cleft

artículo científico publicado en 1995

Vestibular Calcification in a Case of Congenital Cytomegalovirus Infection

artículo científico publicado en 2015

[Congenital neck masses. Embryonic origin and diagnosis. Report of the CIREOL]

artículo científico publicado en 1995

[Imaging aspects of sphenoid during development]

artículo científico publicado en 2003

[Neonatal presentation of maple syrup urine disease].

artículo científico publicado en 2016

[The value of orbital ultrasonography in ethmoid sinusitis in children]

artículo científico publicado en 1999

Lista de obras de Monique Elmaleh-bergès

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia

Acute neurological involvement in diarrhea-associated hemolytic uremic syndrome

Anomalies oculaires fœtales : apport de l’imagerie anténatale en résonance magnétique

Association of Matched Sibling Donor Hematopoietic Stem Cell Transplantation With Transcranial Doppler Velocities in Children With Sickle Cell Anemia

Audiophonological evaluation of 16 children fitted with cochlear implants for sensorineural hearing loss induced by bacterial meningitis

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Bronchial trifurcation in a congenital pulmonary venolobar syndrome

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption

Central Diabetes Insipidus in Infancy With or Without Hypothalamic Adipsic Hypernatremia Syndrome: Early Identification and Outcome

Cerebellar injury in premature infants less than 30 weeks of gestation

Cervical Bronchogenic Cysts

Clinical and haematological risk factors for cerebral macrovasculopathy in a sickle cell disease newborn cohort: a prospective study.

Computed Tomography measurements of the normal and the pathologic cochlea in children

Computed tomography of the normal and pathologic temporal bone

Contribution of fetal MR imaging in the evaluation of cerebral ischemic lesions.

Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases

Contribution of single-photon emission computed tomography in the diagnosis and follow-up of CNS toxicity of a cytarabine-containing regimen in pediatric leukemia

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.

Design of the DREPAGREFFE trial: A prospective controlled multicenter study evaluating the benefit of genoidentical hematopoietic stem cell transplantation over chronic transfusion in sickle cell anemia children detected to be at risk of stroke by t

Detection of postoperative residual cholesteatoma with delayed contrast-enhanced MR imaging: initial findings.

Diffusion magnetic resonance imaging of the fetal brain in intrauterine growth restriction.

Direct foreign body footplate trauma: 3 cases

Early-onset hyperargininaemia: a severe disorder?

Effect of transfusion therapy on cerebral vasculopathy in children with sickle-cell anemia.

Effects of systemic administration of methylprednisolone on residual hearing in an animal model of cochlear implantation

Encéphalopathie myoneurogastro-intestinale

Extracranial carotid arteriopathy in stroke-free children with sickle cell anemia: detection by submandibular Doppler sonography

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

Fetal MRI: normal gestational landmarks for cerebral biometry, gyration and myelination

Fetal cerebral cortex: normal gestational landmarks identified using prenatal MR imaging.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Genetic and clinical aspects of lissencephaly

Headache with focal neurologic signs in children at the emergency department.

Helical CT Findings in Patients Who Have Undergone Stapes Surgery for Otosclerosis

Heterozygous FA2H mutations in autism spectrum disorders

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis.

In utero eyeball development study by magnetic resonance imaging

Increased cerebral blood flow velocity in children with sickle cell disease: adenotonsillectomy or transfusion regimens?

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?

Kingella kingae Sequence Type 25 Causing Endocarditis with Multiple and Severe Cerebral Complications.

Laryngeal ultrasonography in infants and children: Pathological findings

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

Multinodular and Vacuolating Posterior Fossa Lesions of Unknown Significance

Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

New spastic paraplegia phenotype associated to mutation of NFU1.

Oculo-orbital anatomy and nuclear magnetic resonance: use in ocular growth and fetal pathology

Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Pediatric ischemic stroke: acute management and areas of research.

Pediatric salivary gland carcinomas: Diagnostic and therapeutic management

Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence?

Prenatal isolated mild ventriculomegaly: outcome in 167 cases

Protective effect of systemic administration of erythropoietin on auditory brain stem response and compound action potential thresholds in an animal model of cochlear implantation

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

Rhombencephalosynapsis diagnosed in childhood: Clinical and MRI findings

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation

SOX10 mutations mimic isolated hearing loss

Separate-lung ventilation strategy for reimplantation of esophageal bronchus

Severe Snoring in a Child with Pycnodysostosis Treated with a Bilateral Rib Graft

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

Subperiosteal orbital abscess: volumetric criteria for surgical drainage

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

The deaf child: anatomy, etiologies and management

The petrosquamosal sinus: CT and MR findings of a rare emissary vein

Transnasal endoscopic repair of congenital defects of the skull base in children.

Ultrasonographic evaluation of the tongue and the floor of the mouth: Normal and pathological findings

Un cas de syndrome de Lemierre avec thrombose veineuse jugulaire bilatérale

Une perte de poids néonatale avec dégradation neurologique

Unusual presentation of a first branchial cleft