IRIS
SIRCHIA, FABIO
 Distribuzione geografica
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Continente #
NA - Nord America 329
EU - Europa 287
AS - Asia 85
OC - Oceania 2
SA - Sud America 2
Totale 705
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Nazione #
US - Stati Uniti d'America 326
IE - Irlanda 180
CN - Cina 52
IT - Italia 38
FI - Finlandia 35
SG - Singapore 25
DE - Germania 17
GB - Regno Unito 9
CH - Svizzera 4
CA - Canada 3
HK - Hong Kong 3
JP - Giappone 2
SE - Svezia 2
AU - Australia 1
BE - Belgio 1
BR - Brasile 1
FK - Isole Falkland (Malvinas) 1
FR - Francia 1
ID - Indonesia 1
IR - Iran 1
NZ - Nuova Zelanda 1
TR - Turchia 1
Totale 705
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Città #
Dublin 180
Chandler 83
Boardman 66
Helsinki 35
Princeton 30
Lawrence 29
Shanghai 29
Medford 16
Singapore 16
Ashburn 12
Milan 9
Munich 7
New York 7
Pavia 5
Hong Kong 3
San Francisco 3
Zurich 3
Azzano San Paolo 2
Beijing 2
Brighton 2
Eskilstuna 2
Florence 2
London 2
Menlo Park 2
Ottawa 2
Seattle 2
Tokyo 2
Auckland 1
Brussels 1
Campi Bisenzio 1
Changzhou 1
Chicago 1
Falkenstein 1
Foshan 1
Frankfurt am Main 1
Fushun 1
Hangzhou 1
Houston 1
Jakarta 1
Kish 1
Lausanne 1
Leawood 1
Melbourne 1
Nanjing 1
Oklahoma City 1
Pisa 1
Piscataway 1
Toronto 1
Wuxi 1
Xiangtan 1
Xinyi 1
Yiwu 1
Totale 578
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Nome #
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 35
46, XY Disorders of Sexual Development: a case report and its theoretical framework 34
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 34
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 34
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 32
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 31
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 29
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 28
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 27
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 25
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 24
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 22
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 21
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 20
A Girl with Delayed Puberty and Bumpy Lips 20
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 20
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development 20
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 19
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 18
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia 18
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy 17
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 16
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort 15
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic pain 15
New Tools for Congenital Hyperinsulinism 14
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 13
Definition and prevalence of familial short stature 13
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 13
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis 13
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 12
Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review 10
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 10
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 10
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome 10
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 9
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe 9
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report 9
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy 9
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene 6
Mosaic Williams syndrome: A case report 5
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype 5
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 4
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature 3
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 3
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 3
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 2
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 2
Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patient 2
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature 2
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 2
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders 2
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 2
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 1
Totale 772
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Categoria #
all - tutte 6.469
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 6.469
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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
2024/2025128 12 41 6 22 25 22 0 0 0 0 0 0
Totale 772