CRIS Current Research Information System

MAGINI, PAMELA
 Distribuzione geografica
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Continente #
NA - Nord America 513
EU - Europa 231
AS - Asia 28
AF - Africa 5
OC - Oceania 5
SA - Sud America 2
Totale 784
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Nazione #
US - Stati Uniti d'America 509
IT - Italia 100
FR - Francia 31
IE - Irlanda 18
GB - Regno Unito 16
DE - Germania 14
BG - Bulgaria 13
NL - Olanda 9
UA - Ucraina 9
CN - Cina 7
AE - Emirati Arabi Uniti 6
CZ - Repubblica Ceca 6
AU - Australia 5
ZA - Sudafrica 5
CA - Canada 4
FI - Finlandia 4
IN - India 4
JP - Giappone 4
RU - Federazione Russa 4
IL - Israele 3
DK - Danimarca 2
SE - Svezia 2
CH - Svizzera 1
CL - Cile 1
CO - Colombia 1
LU - Lussemburgo 1
PH - Filippine 1
PK - Pakistan 1
PT - Portogallo 1
SA - Arabia Saudita 1
TH - Thailandia 1
Totale 784
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Città #
Ashburn 43
Fairfield 40
Santa Cruz 40
Chicago 30
Bologna 27
Seattle 26
Buffalo 23
Houston 19
Los Angeles 19
Dublin 18
Cambridge 17
Woodbridge 16
Sofia 13
Wilmington 12
Mountain View 11
Boardman 10
Columbus 8
Henderson 7
Milan 7
Lacchiarella 6
Las Vegas 6
Ann Arbor 5
Paris 5
Bergamo 4
Cinisello Balsamo 4
Council Bluffs 4
Helsinki 4
Melbourne 4
Muizenberg 4
Phoenix 4
Shanghai 4
Southend 4
Tappahannock 4
Amsterdam 3
Ancona 3
Holon 3
Riva 3
Auburn 2
Basking Ridge 2
Broxburn 2
Castellamonte 2
Chandler 2
Clearwater 2
Comano 2
Dallas 2
Dulles 2
Flushing 2
Frederiksberg 2
Hartford 2
Imola 2
Ishie 2
Lake Forest 2
London 2
Lurate Caccivio 2
Mariglianella 2
Munich 2
New York 2
Ottawa 2
Parma 2
Pavia 2
Provo 2
Pune 2
Rimini 2
San Diego 2
Santa Clara 2
Shibuya 2
Stockholm 2
Trabia 2
Vedelago 2
Wuhan 2
Acton 1
Angeles City 1
Atlanta 1
Bengaluru 1
Besnate 1
Bromley 1
Budrio 1
Böblingen 1
Changchun 1
Columbia 1
Crugers 1
Dayton 1
Fleming Island 1
Foggia 1
Gentilino 1
Guimarães 1
Herndon 1
Hyderabad 1
Jersey City 1
Krasnodar 1
La Serena 1
Lagaro 1
Lambeth 1
Lecce 1
Lombard 1
Luxembourg 1
Milpitas 1
Monmouth Junction 1
Montreal 1
Naples 1
Totale 556
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Nome #
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder., file e1dcb337-6bb6-7715-e053-1705fe0a6cc9 153
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients., file e1dcb331-9377-7715-e053-1705fe0a6cc9 123
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration, file e1dcb32c-dce3-7715-e053-1705fe0a6cc9 98
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21, file e1dcb333-4408-7715-e053-1705fe0a6cc9 89
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy, file e1dcb335-6972-7715-e053-1705fe0a6cc9 76
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes, file e1dcb339-a6e8-7715-e053-1705fe0a6cc9 41
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders, file e1dcb337-6ce0-7715-e053-1705fe0a6cc9 27
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21, file e1dcb335-45e6-7715-e053-1705fe0a6cc9 22
Characterization of BRCA Deficiency in Ovarian Cancer, file 06b49f9b-7445-4eab-b1e5-ffdcabc52ade 18
Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells, file e1dcb336-ed7e-7715-e053-1705fe0a6cc9 17
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature, file e1dcb338-a408-7715-e053-1705fe0a6cc9 17
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association, file f9a07972-285c-4834-a921-25a2eb23885e 16
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy, file b34a4590-1adb-429a-a236-7032a4b5927a 15
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations, file c9dcd477-7a04-4dd3-a7bd-30a61cec7048 14
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup, file e991dfdd-7e16-4144-aeec-595fefa0801c 14
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype., file e1dcb32d-24ed-7715-e053-1705fe0a6cc9 11
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, file dfa86ccc-b1cc-4c73-9ddd-582bcfb305ab 10
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5), file e1dcb337-83fc-7715-e053-1705fe0a6cc9 10
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21, file e1dcb335-222c-7715-e053-1705fe0a6cc9 7
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association, file 9df30eca-7c08-4e29-9fe5-f8be01e75b1e 5
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder, file 7e62d7bc-3575-4815-bcaa-aa5a011395b6 3
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations, file c9aa953a-7a28-438c-9b2c-3211b728bb1b 2
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy, file e1dcb335-6974-7715-e053-1705fe0a6cc9 2
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis, file e1dcb337-89a9-7715-e053-1705fe0a6cc9 2
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy, file 304c2e0a-8a52-4554-8c65-5c4690ec1d5a 1
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup, file 8a7341a6-63a7-44f0-9c89-06c0090fcaa5 1
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome, file e1dcb32d-31cc-7715-e053-1705fe0a6cc9 1
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes, file e1dcb336-1d2f-7715-e053-1705fe0a6cc9 1
Totale 796
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Categoria #
all - tutte 2.483
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 2.483
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202086 0 0 0 3 8 12 10 14 10 7 7 15
2020/202196 3 9 1 7 9 7 3 3 19 17 11 7
2021/2022147 8 5 8 6 16 5 11 7 7 6 52 16
2022/2023270 1 6 36 28 18 12 17 42 69 11 26 4
2023/2024189 1 9 21 20 22 41 14 22 26 7 6 0
Totale 796