IRIS
ACCOGLI, ANDREA
 Distribuzione geografica
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Continente #
EU - Europa 3.901
AS - Asia 29
NA - Nord America 3
Totale 3.933
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Nazione #
IT - Italia 3.901
CN - Cina 29
US - Stati Uniti d'America 3
Totale 3.933
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Città #
Genoa 1.951
Genova 1.032
Vado Ligure 468
Rapallo 431
Bordighera 18
Beijing 13
Ashburn 3
Milan 1
Totale 3.917
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Nome #
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 185
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature 178
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience 177
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development 164
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 162
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 150
Chiari malformation type I: what information from the genetics? 138
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 136
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 136
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 124
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 119
Genetic Screening of Pediatric Cavernous Malformations 114
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 113
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 100
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 92
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 87
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 85
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 81
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 77
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 75
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 72
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management 72
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 68
Diagnostic Approach to Macrocephaly in Children 67
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 66
Clinical, Endocrine and Neuroimaging Findings in Girls with Central Precocious Puberty 66
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 62
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 61
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 53
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 52
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 51
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 51
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 50
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 49
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 46
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts 41
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 41
Novel biallelic variants expand the phenotype of NAA20-related syndrome 40
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 39
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency 38
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cyst 38
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 37
Reply to Braun et al. “Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion” 37
Hydranencephaly in CENPJ-related Seckel syndrome 36
Biallelic PI4KA variants cause neurological, intestinal and immunological disease 34
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 32
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 31
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 31
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 30
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 29
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 25
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 25
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 22
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion 16
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 13
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits 9
Totale 4.023
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Categoria #
all - tutte 17.717
article - articoli 17.717
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 35.434
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021205 0 0 0 71 5 10 17 22 11 29 19 21
2021/2022301 15 17 18 21 23 23 6 48 34 44 12 40
2022/2023499 25 42 10 42 75 59 16 47 77 5 92 9
2023/2024395 12 47 13 64 24 70 32 18 17 19 31 48
2024/20251.383 73 69 34 104 128 127 110 276 78 70 162 152
2025/2026660 299 73 155 133 0 0 0 0 0 0 0 0
Totale 4.023