List of works by Andrea Poretti

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia

scientific article

A diagnostic approach for cerebral palsy in the genomic era.

scientific article

A neuroimaging pattern-recognition approach in pediatric intracranial calcifications

scientific article published in November 2012

ACCIDENTAL DUPLICATION: MR Imaging Findings in Children with Spasmus Nutans.

scientific article

Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement

scientific article published on 24 September 2014

Acute Brain Imaging in Children: Can MRI Replace CT as a Screening Tool?

scientific article published on 30 October 2015

Acute ataxia in children: approach to clinical presentation and role of additional investigations

scientific article published on 19 December 2012

Acute brain injury following illicit drug abuse in adolescent and young adult patients: spectrum of neuroimaging findings.

scientific article

Anti-Ma2-associated paraneoplastic encephalitis in a male adolescent with mediastinal seminoma.

scientific article published in January 2014

Apparent diffusion coefficient of pediatric cerebellar tumors: a biomarker of tumor grade?

scientific article

Apparent diffusion coefficient scalars correlate with near-infrared spectroscopy markers of cerebrovascular autoregulation in neonates cooled for perinatal hypoxic-ischemic injury

scientific article

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

scientific article published in February 2014

Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations

scientific article published on 24 August 2015

BRAT1 mutations present with a spectrum of clinical severity.

scientific article published on 9 June 2016

Back pain and scoliosis in children: When to image, what to consider

scientific article

Bannayan-Riley-Ruvalcaba Syndrome with Progressive Spinal Epidural Lipomatosis

Benign frontal horn cysts in a preterm neonate

scientific article published in June 2014

Brain injury in neonatal incontinentia pigmenti: the role of multimodality neuroimaging

scientific article

Brainstem disconnection: case report and review of the literature.

scientific article

Brainstem disconnection: two additional patients and expansion of the phenotype

scientific article published on 11 February 2015

Case 236.

scientific article published in August 2016

Cerebellar Bottom-of-Fissure Dysplasia-a Novel Cerebellar Gray Matter Neuroimaging Pattern

scientific article published on 2 November 2015

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

scientific article

Cerebellar Microstructural Organization is Altered by Complications of Premature Birth: A Case-Control Study

scientific article published on 8 November 2016

Cerebellar and Brainstem Malformations

scientific article

Cerebellar cleft: a form of prenatal cerebellar disruption

scientific article published in April 2008

Cerebellar cleft: confirmation of the neuroimaging pattern

scientific article published in October 2009

Cerebellar cysts in children: a pattern recognition approach

scientific article

Cerebellar disruptions and neurodevelopmental disabilities

scientific article published on 12 May 2016

Cerebellar hypoplasia: differential diagnosis and diagnostic approach

scientific article published on 16 May 2014

Cerebral Reorganization after Hemispherectomy: A DTI Study.

scientific article

Cerebral sinovenous thrombosis in a child with Crohn's disease, otitis media, and meningitis

scientific article published on June 2015

Characterization of the Basal Ganglia Using Diffusion Tensor Imaging in Children with Self-Injurious Behavior and Tuberous Sclerosis Complex

scientific article published on 06 May 2019

Chiari II malformation and syntelencephaly in a young woman: coincidence or pathogenetic association?

scientific article published on 23 December 2012

Chiari Malformations and Syringohydromyelia in Children

scientific article

Chiari Type 1 Deformity in Children: Pathogenetic, Clinical, Neuroimaging, and Management Aspects

scientific article published on 23 June 2016

Chiari type 1 malformation, corpus callosum agenesis and patent craniopharyngeal canal in an 11-year-old boy.

scientific article published on 21 June 2016

Christianson syndrome: spectrum of neuroimaging findings

scientific article

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement

scientific article

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016

Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings.

scientific article published on 3 May 2014

Cognitive functions in children with cerebellar malformations.

scientific article published on 21 March 2011

Cognitive outcome in children with rhombencephalosynapsis.

scientific article published on 14 April 2008

Comment: Functional neuroimaging may quantify spinal cord demyelinating disease

scientific article published on 10 May 2013

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.

scientific article published on 2 February 2017

Computed Tomographic Findings in Microcephaly Associated with Zika Virus

scientific article

Congenital Brain Anomalies

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Congenital abnormalities of the posterior fossa

scientific article

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations

scientific article published on July 2014

Conventional and advanced (DTI/SWI) neuroimaging findings in pediatric oligodendroglioma

scientific article

Correlation Between White Matter Injury Identified by Neonatal Diffusion Tensor Imaging and Neurodevelopmental Outcomes Following Term Neonatal Asphyxia and Therapeutic Hypothermia: An Exploratory Pilot Study

scientific article published on 09 May 2019

Crossed cerebro-cerebellar diaschisis

scientific article

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

scientific article

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

scientific article

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update

Differential diagnosis of cerebellar atrophy in childhood

scientific article published on 14 September 2007

Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI.

scientific article

Diffusion Tensor Imaging Detects Occult Cerebellar Injury in Severe Neonatal Hypoxic-Ischemic Encephalopathy

scientific article published on 18 January 2017

Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution.

scientific article published on 10 December 2015

Diffusion tensor imaging and fiber tractography in brain malformations

scientific article published on 04 January 2013

Diffusion tensor imaging for brain malformations: does it help?

scientific article

Diffusion tensor imaging in Joubert syndrome.

scientific article published on 26 September 2007

Diffusion tensor imaging in a child with hypertrophic olivary degeneration

scientific article

Diffusion tensor imaging in pediatric Chiari type I malformation

Diffusion tensor imaging of neurofibromatosis bright objects in children with neurofibromatosis type 1

scientific article

Diffusion tensor imaging of the brainstem in children with achondroplasia

scientific article

Diffusion tensor imaging suggests extrapontine extension of pediatric diffuse intrinsic pontine gliomas

scientific article published on 4 February 2016

Diffusion tensor imaging: A biomarker of outcome in Krabbe's disease

scientific article published on November 2016

Does superior caval vein pressure impact head growth in Fontan circulation?

Dominantly Inherited Nonprogressive Cerebellar Hypoplasia Identified In Utero

Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity

scientific article

Early predictive value of susceptibility weighted imaging (SWI) in pediatric hypoxic-ischemic injury

scientific article published on 3 September 2013

Early-onset head titubation in a child with Poretti-Boltshauser syndrome

scientific article published on 10 March 2017

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

scientific article

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article published on 12 September 2017

Evaluation of the ischemic penumbra focusing on the venous drainage: the role of susceptibility weighted imaging (SWI) in pediatric ischemic cerebral stroke

scientific article published in July 2013

Everolimus and intensive behavioral therapy in an adolescent with tuberous sclerosis complex and severe behavior

scientific article

Fetal Diagnosis of Rhombencephalosynapsis.

scientific article published on 4 November 2015

Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature

scientific article

Figure of Eight Stereotypies in a Young Girl With a Prenatal Cerebellar Injury

scientific article published on 11 May 2019

Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis

scientific article

Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria

scientific article

Histogram Analysis of Diffusion Tensor Imaging Parameters in Pediatric Cerebellar Tumors

scientific article published on 2 September 2015

Horizontal head titubation in infants with Joubert syndrome: a new finding

scientific article

Hypertrophic olivary degeneration in a child following midbrain tumor resection: longitudinal diffusion tensor imaging studies

scientific article published on 14 February 2014

Influence of cerebellar malformations on cerebral volume: does it matter?

Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding

Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients

scientific article published on 16 June 2011

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

scientific article published on 13 January 2017

Leukoencephalopathy with vanishing white matter: serial MRI of the brain and spinal cord including diffusion tensor imaging

scientific article published in February 2011

Long-term complications and quality of life in children with intraspinal tumors.

scientific article published in April 2008

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

scientific article published on 24 March 2017

Longitudinally extensive myelopathy in children

scientific article

MR Imaging of Acute Cerebellar Involvement in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis

scientific article published on 02 March 2017

Macrocerebellum: significance and pathogenic considerations

scientific article published in December 2012

Magnetic resonance imaging findings in children with spasmus nutans

scientific article published on 8 March 2017

Magnetic resonance imaging in pediatric status epilepticus: not a routine, but a more focused indication

scientific article published on 23 January 2012

Magnetic resonance imaging to diagnose leptomeningeal spread of medulloblastoma in children: Decreasing diagnostic uncertainty, moving in new directions.

scientific article

Morphological spectrum of prenatal cerebellar disruptions

scientific article published on 22 October 2008

Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum

scientific article published on 31 December 2013

Multi-contrast multi-atlas parcellation of diffusion tensor imaging of the human brain

scientific article

Multimodality, Anatomical, and Diffusion-Weighted Fetal Imaging of a Spontaneously Thrombosing Congenital Dural Sinus Malformation

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

scientific article published on 06 May 2016

Nationwide survey of Arima syndrome: a note of doubt

scientific article published on 17 September 2013

Neonatal head ultrasonography today: a powerful imaging tool!

scientific article

Neonatal neuroimaging findings in congenital myotonic dystrophy

Neonatal neuroimaging findings in inborn errors of metabolism

scientific article published on 07 May 2012

Neural tube defects in Switzerland from 2001 to 2007: are periconceptual folic acid recommendations being followed?

scientific article

Neuroblastoma with spinal cord compression: is there an emergency treatment of choice?

Neuroimaging Findings in Congenital Zika Syndrome

scientific article

Neuroimaging Findings in Encephalocraniocutaneous Lipomatosis.

scientific article published on 8 August 2015

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

scientific article

Neuroimaging findings in acute pediatric diabetic ketoacidosis

scientific article published on 16 August 2016

Neuroimaging findings in children with Keutel syndrome

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Neuroimaging findings in pediatric cerebral sinovenous thrombosis

scientific article

Neuroimaging findings in pediatric propofol infusion syndrome

scientific article published on 19 December 2013

Neuroimaging findings of Zika virus infection: a review article

scientific article

Neuroimaging findings of Zika virus infection: emphasis of congenital versus acquired aspects

scientific article published on 9 November 2016

Neuroimaging findings of congenital Zika virus infection: a pictorial essay

scientific article published on 10 January 2017

Neuroimaging findings of postnatally acquired Zika virus infection: a pictorial essay

scientific article

Neuroimaging findings of retroclival hemorrhage in children: a diagnostic conundrum

scientific article published on 28 January 2014

Neuroimaging of pediatric intracranial infection--part 1: techniques and bacterial infections

scientific article

Neuroimaging of pediatric intracranial infection--part 2: TORCH, viral, fungal, and parasitic infections

scientific article published on 06 February 2012

Neuroimaging of pediatric posterior fossa tumors including review of the literature

scientific article

Neurometabolic diseases of childhood

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Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

scientific article published on 12 May 2017

Normal and abnormal development of the cerebellum and brainstem as depicted by diffusion tensor imaging

scientific article

Normal cognitive functions in joubert syndrome.

scientific article published in December 2009

Novel Contrast-Enhanced Ultrasound Evaluation in Neonatal Hypoxic Ischemic Injury: Clinical Application and Future Directions.

scientific article published on 26 June 2017

Novel diffusion tensor imaging findings in Krabbe disease

scientific article published on 9 October 2013

NovelTUBB4Amutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Onset of adreno-leukodystrophy after medulloblastoma therapy: causal connection or coincidence?

scientific article

Onychomadesis: a rare side-effect of valproic acid medication?

scientific article published in November 2009

Ophthalmological findings in Joubert syndrome.

scientific article

Optimizing Cerebral Autoregulation May Decrease Neonatal Regional Hypoxic-Ischemic Brain Injury

scientific article published on 16 December 2016

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article

Oropharyngeal dermoid cyst in an infant with intermittent airway obstruction. A case report

scientific article

Outcome in children with brain tumours diagnosed in the first year of life: long-term complications and quality of life

scientific article published on 18 July 2007

Outcome of children with low-grade cerebellar astrocytoma: long-term complications and quality of life.

scientific article

Outcome of craniopharyngioma in children: long-term complications and quality of life

scientific article published in April 2004

Outcome of severe unilateral cerebellar hypoplasia

scientific article published on 23 October 2009

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

scientific article published on 13 October 2018

Parturitional injury of the head and neck

scientific article published on 05 July 2014

Pediatric Cerebellar Tumors: Does ADC Analysis of Solid, Contrast-Enhancing Tumor Components Correlate Better with Tumor Grade than ADC Analysis of the Entire Tumor?

scientific article published on 16 December 2014

Pediatric Neurocutaneous Syndromes with Cerebellar Involvement

scientific article

Pediatric cerebral stroke: susceptibility-weighted imaging may predict post-ischemic malignant edema

scientific article

Pediatric hemiplegic migraine: role of multiple MRI techniques in evaluation of reversible hypoperfusion

scientific article published on 18 October 2013

Pediatric skull fracture diagnosis: should 3D CT reconstructions be added as routine imaging?

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Pediatric spinal trauma

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Persistent Extreme Hyperextension of the Fetal Neck: Clinical and Neuroimaging Findings

scientific article published on 5 February 2018

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

Pitfalls in Diffusion-Weighted and Diffusion Tensor Imaging of the Pediatric Brain.

scientific article

Pitfalls in susceptibility-weighted imaging of the pediatric brain

scientific article

Pontine tegmental cap dysplasia: the severe end of the clinical spectrum

scientific article published in February 2009

Postnatal in-vivo MRI findings in Anencephaly

Postnatal in-vivo MRI findings in Anencephaly

Posttraumatic carotid artery dissection in children: not to be missed!

scientific article

Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities

scientific article

Pre- and postnatal ultrasound and magnetic resonance imaging of intracranial extra-axial glioneuronal heterotopia

scientific article published on 2 September 2011

Prenatal Brainstem Disruptions: Small Lesions-Big Problems.

scientific article published in June 2017

Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury

scientific article

Prenatal MR diffusion tractography in a fetus with complete corpus callosum agenesis

scientific article published in June 2011

Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.

scientific article

Prenatal cerebellar hemorrhage: fetal and postnatal neuroimaging findings and postnatal outcome

scientific article published on 29 January 2015

Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them?

scientific article

Radiological findings of abnormalities associated with congenital Zika virus infection: conclusions from World Radiology Day 2016

scientific article published on 05 December 2017

Retinal Hemorrhages in Nonaccidental Trauma: Look at Susceptibility-Weighted Imaging on Pediatric MRI

scientific article published on 16 January 2015

SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment.

scientific article published on 16 August 2016

Scout view in pediatric CT neuroradiological evaluation: do not underestimate!

scientific article published on 2 October 2013

Sensitivity of susceptibility-weighted imaging in detecting developmental venous anomalies and associated cavernomas and microhemorrhages in children

scientific article published on 30 June 2017

Serial fetal MRI for the diagnosis of Aicardi syndrome

scientific article

Spinal Nerve Root Enhancement on MRI Scans in Children: A Review

scientific article published on 14 September 2015

Structural connectivity analysis reveals abnormal brain connections in agenesis of the corpus callosum in children

scientific article published on 6 December 2014

Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach

scientific article

Susceptibility weighted imaging of the neonatal brain

scientific article

Susceptibility-weighted imaging (SWI): a potential non-invasive imaging tool for characterizing ischemic brain injury?

scientific article published on 26 February 2011

Susceptibility-weighted imaging for calcification in Cockayne syndrome

scientific article

Susceptibility-weighted imaging in pantothenate kinase-associated neurodegeneration

scientific article published on 7 October 2013

Susceptibility-weighted imaging in pediatric arterial ischemic stroke: a valuable alternative for the noninvasive evaluation of altered cerebral hemodynamics

scientific article published on 4 December 2014

Susceptibility-weighted imaging in pediatric neuroimaging

scientific article

Susceptibility-weighted imaging of the pediatric brain.

scientific article

T1 Hyperintensity of the Pediatric Neural Axis: What to Consider?

scientific article

T2 hyperintense signal of the central tegmental tracts in children: disease or normal maturational process?

scientific article published on 21 January 2012

Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum?

scientific article

Tectorial membrane injury: frequently overlooked in pediatric traumatic head injury

scientific article published on 18 August 2011

Terminology in morphological anomalies of the cerebellum does matter

scientific article published on 7 July 2015

The Pediatric Cerebellum

scientific article published in August 2016

The Role of ADC-Based Thermometry in Measuring Brain Intraventricular Temperature in Children

scientific article published on 26 December 2015

The molar tooth sign is pathognomonic for Joubert syndrome!

scientific article published on 14 November 2013

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis

scientific article published on 31 July 2018

The structural connectome in children: basic concepts, how to build it, and synopsis of challenges for the developing pediatric brain

scientific article published on 5 April 2017

The unique features of traumatic brain injury in children. Review of the characteristics of the pediatric skull and brain, mechanisms of trauma, patterns of injury, complications and their imaging findings--part 1.

scientific article published on 24 January 2012

The unique features of traumatic brain injury in children. review of the characteristics of the pediatric skull and brain, mechanisms of trauma, patterns of injury, complications, and their imaging findings--part 2.

scientific article published on 03 February 2012

Transfontanellar duplex brain ultrasonography resistive indices as a prognostic tool in neonatal hypoxic-ischemic encephalopathy before and after treatment with therapeutic hypothermia

scientific article published on 26 November 2015

Trauma

scientific article published on 01 January 2016

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article

Tumor and Tumorlike Masses in Pediatric Patients that Involve Multiple Spaces

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Undecussated superior cerebellar peduncles and absence of the dorsal transverse pontine fibers: a new axonal guidance disorder?

scientific article published in August 2014

Value of Susceptibility-Weighted Imaging in the Evaluation of Altered Brain Perfusion in Children

scientific article published on 4 January 2016

Vein of galen aneurysmal malformation: prognostic markers depicted on fetal MRI

scientific article published on February 2015

Vestibular impairment in patients with Charcot-Marie-tooth disease

scientific article published on 8 May 2013

Will a novel semi-quantitative scale for classification of structural brain MRI improve patient care and research in children with cerebral palsy?

Wolff-Parkinson-White syndrome in a child with recurrent seizures

scientific article published on 01 February 2010

“Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13–q32.3”: Where is the molar tooth sign?

“Rhombencephalosynapsis Associated with Dandy-Walker Malformation” is a Molar Tooth Malformation

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