Distribuzione geografica
Continente #
NA - Nord America 1705
EU - Europa 1022
AS - Asia 399
Totale 3126
Nazione #
US - Stati Uniti d'America 1570
UA - Ucraina 432
CN - Cina 346
IT - Italia 339
CA - Canada 135
RU - Federazione Russa 100
SE - Svezia 48
FR - Francia 28
VN - Vietnam 26
DE - Germania 22
SG - Singapore 14
GB - Regno Unito 10
CH - Svizzera 8
AT - Austria 7
GR - Grecia 7
PL - Polonia 7
UZ - Uzbekistan 5
NL - Olanda 4
AL - Albania 2
CZ - Repubblica Ceca 2
DK - Danimarca 2
IN - India 2
JP - Giappone 2
LB - Libano 2
AM - Armenia 1
BG - Bulgaria 1
IE - Irlanda 1
SK - Slovacchia (Repubblica Slovacca) 1
SM - San Marino 1
TW - Taiwan 1
Totale 3126
Città #
Jacksonville 483
Houston 280
Chandler 117
Andover 112
Lawrence 112
Nanjing 112
Cambridge 109
Toronto 102
Catania 75
Des Moines 63
San Mateo 58
Nanchang 50
Hebei 42
Wilmington 42
Saint Petersburg 33
Vercelli 31
Ashburn 29
Ottawa 29
Tianjin 29
Falls Church 28
Shenyang 27
Dong Ket 24
Changsha 17
Norwalk 17
Dearborn 14
Jiaxing 14
Jinan 11
Civitavecchia 9
Napoli 9
Ann Arbor 8
Milan 8
Beijing 7
Kunming 7
Ningbo 7
Frankfurt Am Main 5
Guangzhou 5
Livorno 5
Palermo 5
San Francisco 5
Den Haag 4
Fairfield 4
Liberty Lake 4
Redwood City 4
Trapani 4
Vicenza 4
Alessandria 3
Carlentini 3
Köln 3
Lanzhou 3
Lennoxville 3
Moscow 3
Princeton 3
Providence 3
Rome 3
Taizhou 3
Agrate Brianza 2
Foggia 2
Genova 2
Grafing 2
Hanoi 2
Kiev 2
Los Angeles 2
Ludwigshafen 2
Messina 2
Milazzo 2
Modica 2
Nocera Inferiore 2
Seattle 2
Tirana 2
Zhengzhou 2
Agropoli 1
Asiago 1
Augusta 1
Bologna 1
Bratislava 1
Cannes 1
Charlottesville 1
Florence 1
Fremont 1
Gandhi Nagar 1
Hangzhou 1
Kaohsiung 1
Lago 1
Lincoln 1
Lozzo Atestino 1
Miami 1
Pedara 1
Piedimonte Etneo 1
Pittsburgh 1
Porcia 1
Pozzo Di Gotto 1
Redmond 1
Reggio Calabria 1
Reston 1
Shanghai 1
Tokyo 1
Torino 1
Tortorici 1
Vancouver 1
Yerevan 1
Totale 2254
Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 138
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 113
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems. 85
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 66
Valutazione del tasso di mutazioni spontanee nel DNA di pazienti oligoastenoteratozoospermici con frequenza elevata di aneuploidie spermatiche 55
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 53
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 51
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy 48
Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase 45
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 40
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 38
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 38
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 37
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 37
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 36
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 36
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 36
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 35
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 35
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 34
Coexistence of A3243G mt-DNA and nt697 doublecortin (DCX) mutations in a female with mitochondrial Encephalomyopathy and double cortex 33
12q12 deletion: A new patient contributing to genotype-phenotype correlation 33
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 32
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 32
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 31
Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome 31
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 31
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassernia carriers 31
Multicentric origin of Hb constant spring [alpha(2) codon 142 TAA -> CAA] 30
Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome. 30
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNA(Cys) gene 30
Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 30
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation 30
A novel L1CAM mutation in a fetus detected by prenatal diagnosis 30
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response. 30
Quantitative evaluation of partial deletions of the DAZ gene cluster 29
Molecular basis of alpha-thalassemia in Sicily 29
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 29
Recurrent duplications of 17q12 associated with variable phenotypes 29
Denaturing HPLC-Based assay for molecular screening of nondeletional mutations causing alpha-thalassemias 28
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 28
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 28
Partial monosomy Xq(Xq23 -> qter) and trisomy 4p(4p15.33 -> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features 28
Denaturing HPLC-based assay for detection of ATRX gene mutations 28
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 27
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome 27
Case Report: Infantile autism in a patient carrying a 275 Kb deletion of 18q12.2 supports the role of RNA-binding protein CELF4 in Autism Spectrum Disorders 27
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 27
The molecular landscape of ASPM mutations in primary microcephaly 26
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy 26
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders 26
Genetic variations in human fetal globin gene microsatellites and their functional relevance 26
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 26
Different geographic origins of Hb constant spring [alpha(2) codon 142 TAA -> CAA] 26
Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis. 26
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 26
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 26
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. 25
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex 25
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. 25
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome 24
Identification of novel mutations in L1CAM gene by a DHPLC-based assay 24
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes 24
Spontaneous transmission from a father to his son and widening of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene 24
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 24
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 23
An unusual presentation of Becker Nevus 23
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily 23
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 22
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development. 22
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 22
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 22
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 21
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 21
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. 21
Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth 21
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 21
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 21
"Balanced" complex rearrangements: how many are really balanced? 20
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 20
Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females 20
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations 20
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation. 20
Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH 20
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis. 20
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis 19
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. 19
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 18
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. 18
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome 17
Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability 17
Refining analyses of copy number variation identifies specific genes associated with developmental delay. 17
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype 17
Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene 16
Totale 3106
Categoria #
all - tutte 4661
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4661

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201874 0007 95 537 2126
2018/2019278 7006 40108 153 1511073
2019/2020941 2716612464 9716 1065 60147741
2020/2021736 12631005 17417 11917 62510854
2021/2022941 1031161015 13016 12526 872028265
2022/2023227 136502021 00 00 0000
Totale 3274