IRIS
SIRCHIA, FABIO
 Distribuzione geografica
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Continente #
NA - Nord America 1.262
AS - Asia 1.114
EU - Europa 790
SA - Sud America 296
AF - Africa 57
OC - Oceania 3
Totale 3.522
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Nazione #
US - Stati Uniti d'America 1.193
SG - Singapore 292
CN - Cina 289
BR - Brasile 225
VN - Vietnam 219
IE - Irlanda 186
HK - Hong Kong 151
RU - Federazione Russa 136
IT - Italia 130
DE - Germania 73
FR - Francia 68
FI - Finlandia 57
GB - Regno Unito 55
IN - India 40
ZA - Sudafrica 36
CA - Canada 29
MX - Messico 27
AR - Argentina 26
BD - Bangladesh 23
IQ - Iraq 20
JP - Giappone 18
PL - Polonia 17
SE - Svezia 14
EC - Ecuador 13
AT - Austria 10
CO - Colombia 10
NL - Olanda 10
ES - Italia 8
TR - Turchia 8
ID - Indonesia 7
PK - Pakistan 7
UA - Ucraina 6
CH - Svizzera 5
CL - Cile 5
CR - Costa Rica 5
JO - Giordania 5
VE - Venezuela 5
AE - Emirati Arabi Uniti 4
ET - Etiopia 4
PT - Portogallo 4
DZ - Algeria 3
EG - Egitto 3
JM - Giamaica 3
LV - Lettonia 3
MA - Marocco 3
OM - Oman 3
PE - Perù 3
UY - Uruguay 3
UZ - Uzbekistan 3
AU - Australia 2
DO - Repubblica Dominicana 2
GY - Guiana 2
HN - Honduras 2
IL - Israele 2
IR - Iran 2
KE - Kenya 2
KR - Corea 2
KZ - Kazakistan 2
MY - Malesia 2
NG - Nigeria 2
NP - Nepal 2
PH - Filippine 2
PS - Palestinian Territory 2
PY - Paraguay 2
QA - Qatar 2
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BE - Belgio 1
BW - Botswana 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
EE - Estonia 1
FK - Isole Falkland (Malvinas) 1
GF - Guiana Francese 1
KG - Kirghizistan 1
KH - Cambogia 1
MN - Mongolia 1
NZ - Nuova Zelanda 1
RO - Romania 1
SA - Arabia Saudita 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TH - Thailandia 1
TN - Tunisia 1
YE - Yemen 1
ZM - Zambia 1
Totale 3.522
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Città #
Dublin 184
San Jose 171
Dallas 161
Hong Kong 148
Singapore 147
Ashburn 116
Beijing 91
Ho Chi Minh City 87
Chandler 83
Boardman 66
Lauterbourg 53
Hanoi 44
Los Angeles 44
Helsinki 36
Redondo Beach 36
Johannesburg 30
Milan 30
Munich 30
Princeton 30
Shanghai 30
Lawrence 29
Buffalo 27
New York 27
São Paulo 25
Turku 20
Moscow 18
Tokyo 17
Medford 16
Orem 16
Montreal 15
Warsaw 14
Denver 13
Mexico City 13
Frankfurt am Main 12
London 12
Stockholm 12
Chennai 11
Nuremberg 11
Haiphong 10
Atlanta 9
Santa Clara 9
Chicago 8
Da Nang 8
Detroit 8
Poplar 8
Rio de Janeiro 8
Turin 8
Baghdad 7
Bologna 7
Florence 7
Pavia 7
San Francisco 7
Boston 6
Brooklyn 6
Quảng Ngãi 6
Amman 5
Charlotte 5
Dhaka 5
Guayaquil 5
Hải Dương 5
Manchester 5
Medellín 5
San José 5
The Dalles 5
Thái Nguyên 5
Biên Hòa 4
Columbus 4
Düsseldorf 4
Elk Grove Village 4
Houston 4
Jakarta 4
Lisbon 4
Phoenix 4
Porto Alegre 4
Rome 4
Seattle 4
Toronto 4
Xi'an 4
Addis Ababa 3
Ankara 3
Belo Horizonte 3
Brasília 3
Buenos Aires 3
Cagliari 3
Cairo 3
Campinas 3
Can Tho 3
Caracas 3
Changsha 3
Council Bluffs 3
Curitiba 3
Delhi 3
Falkenstein 3
Genoa 3
Goiânia 3
Guarulhos 3
Ha Long 3
Jundiaí 3
Lahore 3
Najaf 3
Totale 2.222
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Nome #
46, XY Disorders of Sexual Development: a case report and its theoretical framework 109
Loss-of-function mutation in the FLG gene is associated with a complex atopic phenotype with hyper-IgE 107
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 102
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 94
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 91
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 91
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 91
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 88
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 85
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 85
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature 84
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 84
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy 83
A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy 78
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 77
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants 77
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 73
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 73
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 72
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 70
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 69
Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report 67
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 64
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature 64
Mosaic Williams syndrome: A case report 61
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 61
Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review 60
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 59
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 55
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 55
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 54
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic pain 52
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 49
Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4 47
Genomic studies in a large cohort of hearing impaired italian patients revealed several new alleles, a rare case of uniparental disomy (Upd) and the importance to search for copy number variations 47
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease 45
A Girl with Delayed Puberty and Bumpy Lips 45
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort 45
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype 44
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia 44
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 44
Definition and prevalence of familial short stature 43
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 43
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 41
New Tools for Congenital Hyperinsulinism 40
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis 40
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 38
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 38
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 36
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 33
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 32
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 32
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 32
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report 31
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 30
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 30
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature 29
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 29
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 28
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe 28
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 25
Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patient 23
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 23
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 22
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing 19
Totale 3.610
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Categoria #
all - tutte 15.919
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 15.919
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022100 0 0 0 0 0 0 0 12 19 0 6 63
2022/2023334 39 31 2 7 15 19 0 19 198 0 3 1
2023/2024210 34 17 2 13 16 14 33 2 2 2 25 50
2024/2025776 12 41 6 22 25 34 40 36 212 46 73 229
2025/20262.190 157 194 244 410 271 84 329 133 250 118 0 0
Totale 3.610