IRIS
RANIERI, CARLOTTA
 Distribuzione geografica
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Continente #
NA - Nord America 338
EU - Europa 114
AS - Asia 30
SA - Sud America 2
Totale 484
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Nazione #
US - Stati Uniti d'America 336
SE - Svezia 41
IT - Italia 29
SG - Singapore 17
DE - Germania 14
CN - Cina 8
CZ - Repubblica Ceca 7
FR - Francia 6
GB - Regno Unito 5
FI - Finlandia 3
BE - Belgio 2
CA - Canada 2
IN - India 2
RU - Federazione Russa 2
SI - Slovenia 2
VN - Vietnam 2
BR - Brasile 1
CL - Cile 1
ES - Italia 1
IR - Iran 1
LT - Lituania 1
RO - Romania 1
Totale 484
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Città #
Chandler 56
Fairfield 37
Nyköping 36
Ashburn 26
Seattle 20
Wilmington 17
Woodbridge 15
Ann Arbor 12
Cambridge 12
Singapore 12
Bari 11
Houston 11
Lawrence 11
Munich 11
Roxbury 11
New York 10
Des Moines 7
Brno 6
Inglewood 6
Bisceglie 4
Santa Clara 4
Valenzano 4
Beijing 3
Helsinki 3
Brussels 2
Dong Ket 2
Grottaglie 2
Ljubljana 2
London 2
Nanjing 2
Paris 2
Pune 2
Altopascio 1
Ardabil 1
Bitonto 1
Esslingen am Neckar 1
La Canada Flintridge 1
Leawood 1
Madrid 1
Marseille 1
Napoli 1
Ottawa 1
Prague 1
Redwood City 1
San Diego 1
Santa Marinella 1
Serra 1
Sioux Falls 1
Stimigliano 1
São Paulo 1
Tianjin 1
Toronto 1
Wuxi 1
Totale 382
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Nome #
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay 79
The first case of congenital myasthenic syndrome caused by a large homozygous deletion in the cterminal region of colq (Collagen like tail subunit of asymmetric acetylcholinesterase) protein 61
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma 61
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 59
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 57
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report 40
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects 37
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth 35
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants 32
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al 29
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome 27
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: another piece added to the puzzle of mosaic RASopathies 9
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) 2
A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis 1
Totale 529
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Categoria #
all - tutte 4.175
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 4.175
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202040 0 0 0 0 6 4 6 6 6 7 2 3
2020/202189 0 5 0 5 13 0 21 10 11 10 8 6
2021/202297 11 7 2 1 2 8 4 5 10 10 23 14
2022/2023167 17 34 8 6 12 17 2 22 38 5 4 2
2023/202464 3 12 2 8 10 19 0 4 1 1 0 4
2024/202555 17 0 20 14 4 0 0 0 0 0 0 0
Totale 529