CRIS Current Research Information System

MAGINI, PAMELA
 Distribuzione geografica
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Continente #
NA - Nord America 2.589
AS - Asia 2.069
EU - Europa 1.970
AF - Africa 169
SA - Sud America 127
OC - Oceania 2
Totale 6.926
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Nazione #
US - Stati Uniti d'America 2.560
SG - Singapore 610
CN - Cina 600
IT - Italia 598
VN - Vietnam 435
GB - Regno Unito 317
SE - Svezia 235
DE - Germania 214
HK - Hong Kong 164
NL - Olanda 108
IN - India 97
BR - Brasile 92
FR - Francia 87
RU - Federazione Russa 85
IE - Irlanda 70
KR - Corea 67
CI - Costa d'Avorio 63
UA - Ucraina 60
FI - Finlandia 44
TG - Togo 35
SC - Seychelles 31
ZA - Sudafrica 30
CH - Svizzera 24
AT - Austria 21
BG - Bulgaria 21
JO - Giordania 20
JP - Giappone 20
ID - Indonesia 19
BE - Belgio 18
CA - Canada 18
EE - Estonia 18
PL - Polonia 17
AR - Argentina 15
EC - Ecuador 12
UZ - Uzbekistan 9
ES - Italia 8
MX - Messico 8
HR - Croazia 7
NG - Nigeria 7
TR - Turchia 6
BD - Bangladesh 5
IR - Iran 5
CZ - Repubblica Ceca 4
PY - Paraguay 4
LT - Lituania 3
AL - Albania 2
AU - Australia 2
CL - Cile 2
CO - Colombia 2
GR - Grecia 2
IQ - Iraq 2
LB - Libano 2
PT - Portogallo 2
RO - Romania 2
AZ - Azerbaigian 1
BH - Bahrain 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
GM - Gambi 1
IS - Islanda 1
KG - Kirghizistan 1
LK - Sri Lanka 1
MA - Marocco 1
MD - Moldavia 1
MN - Mongolia 1
MY - Malesia 1
PA - Panama 1
PH - Filippine 1
SK - Slovacchia (Repubblica Slovacca) 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
Totale 6.926
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Città #
Singapore 413
Ashburn 319
Southend 263
Fairfield 258
Chandler 209
Hong Kong 162
Hefei 158
Bologna 157
Woodbridge 144
Dong Ket 127
Seattle 110
Wilmington 110
Ann Arbor 101
Cambridge 98
Santa Clara 97
Houston 92
Princeton 78
Dublin 70
Beijing 69
Seoul 67
Abidjan 63
Boardman 57
Los Angeles 46
Ho Chi Minh City 44
Dallas 36
Lomé 35
Milan 35
Helsinki 34
Redmond 34
Turin 34
Hanoi 33
Florence 30
Westminster 30
Jacksonville 29
Nanjing 29
New York 29
Redondo Beach 24
Berlin 23
Padova 21
Sofia 21
Amman 20
Munich 20
Tokyo 20
Shenyang 19
Brussels 18
Jinan 18
Saint Petersburg 18
Buffalo 17
San Diego 17
Changsha 15
Jakarta 15
Bern 14
Warsaw 14
Nanchang 13
Bengaluru 12
Dearborn 12
Nuremberg 12
Rome 12
Shanghai 12
Frankfurt am Main 11
Mülheim 11
Amsterdam 10
Chicago 10
Hebei 10
Phoenix 10
São Paulo 10
Boydton 9
Zhengzhou 9
Chiari 8
Des Moines 8
Falkenstein 8
Falls Church 8
London 8
Vienna 8
Guayaquil 7
Modena 7
Ottawa 7
Paris 7
Parma 7
Shijiazhuang 7
Tianjin 7
Abeokuta 6
Bari 6
Brooklyn 6
Fornovo di Taro 6
Kuban 6
Qingdao 6
Suzhou 6
Xi'an 6
Atlanta 5
Calderara Di Reno 5
Chennai 5
Frankfurt Am Main 5
Guangzhou 5
Mahé 5
Olalla 5
Turku 5
Verona 5
Bremen 4
Council Bluffs 4
Totale 4.375
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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. 310
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 275
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 231
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 230
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 226
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases 217
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 213
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 201
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 196
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 195
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 188
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 185
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 175
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 174
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 173
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 165
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 165
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 159
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 153
Long read sequencing on its way to the routine diagnostics of genetic diseases 152
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 149
EX-HOM (EXome-HOMozygosity): a proof of principle 148
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 148
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 147
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 143
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 139
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 135
Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells 132
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 129
Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers 121
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 120
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 120
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome 120
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 113
Corrigendum: Messenger RNA processing is altered in autosomal dominant leukodystrophy [Human Molecular Genetics, 24 (2015) (2746-2756)] DOI:10.1093/hmg/ddv034 111
Familial DMRT1-related non-obstructive azoospermia: a case report 107
null 103
Characterization of BRCA Deficiency in Ovarian Cancer 103
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? 102
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 101
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) 101
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 96
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature 96
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders 75
Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder 58
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype 57
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force 54
Corrigendum: Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients(EMBO Mol Med, (2014), 6, (795–809), 10.1002/emmm.201303235) 42
Corrigendum to “Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders” [Gene 706 (2019) 162–171](S037811191930469X)(10.1016/j.gene.2019.05.007) 39
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy 36
Totale 7.128
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Categoria #
all - tutte 20.038
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 20.038
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021565 0 0 0 0 0 25 11 48 139 34 27 281
2021/2022923 138 40 45 60 81 44 22 47 43 67 237 99
2022/20231.000 88 127 53 103 71 77 38 59 181 30 114 59
2023/2024329 22 63 17 26 18 75 15 18 18 25 15 17
2024/20251.324 50 162 112 111 160 67 94 65 33 134 82 254
2025/20261.496 272 318 260 278 300 68 0 0 0 0 0 0
Totale 7.128