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Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

Annals of the rheumatic diseases, 2016-08, Vol.75 (8), p.1550-1557

2016

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Differentiating PFAPA syndrome from monogenic periodic fevers

Pediatrics (Evanston), 2009-10, Vol.124 (4), p.e721

2009

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Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report

Journal of medical case reports, 2019-04, Vol.13 (1), p.100-100, Article 100

2019

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Does the Co-occurrence of FGFR3 Gene Mutation in Hypochondroplasia, Medial Temporal Lobe Dysgenesis, and Focal Epilepsy Suggest a Syndrome?

Pediatric neurology, 2014-04, Vol.50 (4), p.427-430

2014

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Nerve Fascicles and Epineurium Volume Segmentation of Peripheral Nerve Using Magnetic Resonance Micro-neurography

Academic radiology, 2016-08, Vol.23 (8), p.1000-1007

2016

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Late gadolinium enhancement by cardiovascular magnetic resonance is complementary to left ventricle ejection fraction in predicting prognosis of patients with stable coronary artery disease

Journal of cardiovascular magnetic resonance, 2012-05, Vol.14 (1), p.29-29, Article 28

2012

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Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)

Congenital anomalies, 2014-11, Vol.54 (4), p.228-232

2014

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To treat or not to treat: comparison of different criteria used to determine whether weight loss is to be recommended

Nutrition journal, 2008-01, Vol.7 (1), p.5-5, Article 5

2008

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Prognostic value of first pass stress perfusion cardiac magnetic resonance in stable coronary artery disease

Journal of cardiovascular magnetic resonance, 2011-02, Vol.13 (S1), p.P114-P114, Article P114

2011

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In Vivo MR Microneurography of the Tibial and Common Peroneal Nerves

Radiology Research and Practice, 2014-01, Vol.2014, p.780964-6

2014

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Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities

European heart journal, 2009-09, Vol.30 (18), p.2241-2248

2009

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Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

Annals of the rheumatic diseases, 2012-12, Vol.71 (12), p.1961-1965

2012

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Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology

Fetal and pediatric pathology, 2022-04, Vol.41 (2), p.281-292

2022

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Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis

Radiologia medica, 2017-11, Vol.122 (11), p.880-891

2017

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Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.646-652

2015

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A Method for Manufacturing Oncological Phantoms for the Quantification of 18F-FDG PET and DW-MRI Studies

Contrast media and molecular imaging, 2017-01, Vol.2017, p.3461684-7

2017

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Motion on Numbers: Transcranial Magnetic Stimulation on the Ventral Intraparietal Sulcus Alters Both Numerical and Motion Processes

Journal of cognitive neuroscience, 2009-11, Vol.21 (11), p.2129-2138

2009

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Effects of active music therapy on the normal brain: fMRI based evidence

Brain imaging and behavior, 2016-03, Vol.10 (1), p.182-186

2016

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Germline Prokineticin Receptor 2 (PROKR2) Variants Associated With Central Hypogonadism Cause Differental Modulation of Distinct Intracellular Pathways

The journal of clinical endocrinology and metabolism, 2014-03, Vol.99 (3), p.E458-E463

2014

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Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis

Skeletal radiology, 2014-09, Vol.43 (9), p.1205-1215

2014

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New understandings of the genetic basis of isolated idiopathic central hypogonadism

Asian journal of andrology, 2012-01, Vol.14 (1), p.49-56

2012

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Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature

Archives of gynecology and obstetrics, 2011-04, Vol.283 (4), p.909-916

2011

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Apert Syndrome with Fused Thalami

Fetal and pediatric pathology, 2012-12, Vol.31 (6), p.410-414

2012

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THANATOPHORIC DYSPLASIA TYPE I ASSOCIATED WITH INCREASED NUCHAL TRANSLUCENCY IN THE FIRST TRIMESTER: Early Prenatal Diagnosis Using Combined Ultrasonography and Molecular Biology

Fetal and pediatric pathology, 2010-08, Vol.29 (5), p.314-322

2010

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Intra-observer and interobserver reproducibility of right ventricle volumes, function and mass by cardiac magnetic resonance

Journal of cardiovascular medicine (Hagerstown, Md.), 2007-10, Vol.8 (10), p.807

2007

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Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

Differentiating PFAPA syndrome from monogenic periodic fevers

Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report

Does the Co-occurrence of FGFR3 Gene Mutation in Hypochondroplasia, Medial Temporal Lobe Dysgenesis, and Focal Epilepsy Suggest a Syndrome?

Nerve Fascicles and Epineurium Volume Segmentation of Peripheral Nerve Using Magnetic Resonance Micro-neurography

Late gadolinium enhancement by cardiovascular magnetic resonance is complementary to left ventricle ejection fraction in predicting prognosis of patients with stable coronary artery disease

Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)

To treat or not to treat: comparison of different criteria used to determine whether weight loss is to be recommended

Prognostic value of first pass stress perfusion cardiac magnetic resonance in stable coronary artery disease

In Vivo MR Microneurography of the Tibial and Common Peroneal Nerves

Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

A Method for Manufacturing Oncological Phantoms for the Quantification of 18F-FDG PET and DW-MRI Studies

Motion on Numbers: Transcranial Magnetic Stimulation on the Ventral Intraparietal Sulcus Alters Both Numerical and Motion Processes

Effects of active music therapy on the normal brain: fMRI based evidence

Germline Prokineticin Receptor 2 (PROKR2) Variants Associated With Central Hypogonadism Cause Differental Modulation of Distinct Intracellular Pathways

Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis

New understandings of the genetic basis of isolated idiopathic central hypogonadism

Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature

Apert Syndrome with Fused Thalami

THANATOPHORIC DYSPLASIA TYPE I ASSOCIATED WITH INCREASED NUCHAL TRANSLUCENCY IN THE FIRST TRIMESTER: Early Prenatal Diagnosis Using Combined Ultrasonography and Molecular Biology

Intra-observer and interobserver reproducibility of right ventricle volumes, function and mass by cardiac magnetic resonance

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