IRIS
ACCOGLI, ANDREA
 Distribuzione geografica
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Continente #
EU - Europa 2.453
Totale 2.453
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Nazione #
IT - Italia 2.453
Totale 2.453
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Città #
Genova 1.032
Genoa 488
Vado Ligure 474
Rapallo 441
Bordighera 18
Totale 2.453
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Nome #
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature 159
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience 153
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 148
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 129
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development 126
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 121
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 111
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 107
Chiari malformation type I: what information from the genetics? 105
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 104
Genetic Screening of Pediatric Cavernous Malformations 102
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 78
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 64
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 62
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 56
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 48
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 45
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 43
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 42
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 41
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management 40
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 39
Diagnostic Approach to Macrocephaly in Children 39
Clinical, Endocrine and Neuroimaging Findings in Girls with Central Precocious Puberty 34
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 32
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 32
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 29
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 29
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 29
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 28
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 27
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency 25
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 24
Reply to Braun et al. “Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion” 23
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 21
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 18
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cyst 17
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 16
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 16
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 15
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 15
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 15
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 14
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 14
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 13
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 13
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 13
Hydranencephaly in CENPJ-related Seckel syndrome 12
Novel biallelic variants expand the phenotype of NAA20-related syndrome 12
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts 10
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 9
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 9
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion 7
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 5
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 4
Totale 2.542
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Categoria #
all - tutte 12.814
article - articoli 12.814
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 25.628
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020261 0 0 0 0 0 0 75 40 47 54 29 16
2020/2021268 17 17 29 71 5 10 17 22 11 29 19 21
2021/2022301 15 17 18 21 23 23 6 48 34 44 12 40
2022/2023510 25 42 10 42 77 59 16 49 81 5 95 9
2023/2024404 12 49 13 65 24 73 32 18 18 19 33 48
2024/2025542 73 70 35 106 129 129 0 0 0 0 0 0
Totale 2.542