CRIS Current Research Information System

MAGINI, PAMELA
 Distribuzione geografica
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Continente #
NA - Nord America 3.221
AS - Asia 2.996
EU - Europa 2.233
Continente sconosciuto - Info sul continente non disponibili 220
AF - Africa 187
SA - Sud America 164
OC - Oceania 3
Totale 9.024
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Nazione #
US - Stati Uniti d'America 3.154
VN - Vietnam 879
IT - Italia 747
SG - Singapore 741
CN - Cina 730
GB - Regno Unito 330
SE - Svezia 239
DE - Germania 220
HK - Hong Kong 195
FR - Francia 130
BR - Brasile 118
IN - India 115
NL - Olanda 113
RU - Federazione Russa 86
KR - Corea 78
IE - Irlanda 71
BD - Bangladesh 67
CI - Costa d'Avorio 64
UA - Ucraina 62
FI - Finlandia 53
CA - Canada 37
JP - Giappone 37
ZA - Sudafrica 36
TG - Togo 35
SC - Seychelles 33
CH - Svizzera 25
PL - Polonia 25
ID - Indonesia 24
BG - Bulgaria 23
AT - Austria 21
JO - Giordania 21
PH - Filippine 21
BE - Belgio 19
EE - Estonia 19
AR - Argentina 18
ES - Italia 15
EC - Ecuador 14
TH - Thailandia 13
TR - Turchia 11
UZ - Uzbekistan 11
IQ - Iraq 10
MX - Messico 10
TW - Taiwan 10
HR - Croazia 8
NG - Nigeria 8
SA - Arabia Saudita 7
IR - Iran 6
JM - Giamaica 6
LT - Lituania 6
PY - Paraguay 5
CO - Colombia 4
CZ - Repubblica Ceca 4
DZ - Algeria 4
TT - Trinidad e Tobago 4
AL - Albania 3
AU - Australia 3
BH - Bahrain 3
CL - Cile 3
ET - Etiopia 3
LB - Libano 3
RO - Romania 3
CR - Costa Rica 2
DO - Repubblica Dominicana 2
GR - Grecia 2
IL - Israele 2
MA - Marocco 2
MD - Moldavia 2
MY - Malesia 2
PK - Pakistan 2
PT - Portogallo 2
SK - Slovacchia (Repubblica Slovacca) 2
SV - El Salvador 2
AZ - Azerbaigian 1
BB - Barbados 1
DK - Danimarca 1
EG - Egitto 1
GE - Georgia 1
GM - Gambi 1
IS - Islanda 1
KG - Kirghizistan 1
KH - Cambogia 1
KY - Cayman, isole 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LV - Lettonia 1
MN - Mongolia 1
NI - Nicaragua 1
PA - Panama 1
SY - Repubblica araba siriana 1
UY - Uruguay 1
VE - Venezuela 1
Totale 8.804
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Città #
Singapore 528
Ashburn 359
Southend 263
Fairfield 258
Chandler 209
Hong Kong 179
Bologna 175
San Jose 175
Ho Chi Minh City 164
Hefei 158
Woodbridge 144
Dong Ket 127
Hanoi 123
Seattle 111
Wilmington 110
Santa Clara 108
Ann Arbor 101
Cambridge 99
Houston 93
Council Bluffs 82
Princeton 78
Beijing 77
Dublin 71
Seoul 69
Abidjan 64
Boardman 62
Los Angeles 62
Dallas 51
New York 51
Milan 44
Helsinki 43
Lauterbourg 41
Lomé 35
Turin 35
Florence 34
Redmond 34
Tokyo 34
Westminster 30
Jacksonville 29
Nanjing 29
Da Nang 28
Buffalo 27
Haiphong 25
Redondo Beach 24
Berlin 23
Amman 21
Padova 21
Rome 21
Sofia 21
Munich 20
Shenyang 20
Warsaw 20
Brussels 19
Shanghai 19
Jinan 18
Saint Petersburg 18
São Paulo 18
San Diego 17
Frankfurt am Main 16
Changsha 15
Chicago 15
Jakarta 15
Bern 14
Amsterdam 13
Bengaluru 13
Nanchang 13
Dearborn 12
Nuremberg 12
Phoenix 12
London 11
Mülheim 11
Boydton 10
Hebei 10
Bari 9
Brooklyn 9
Guangzhou 9
Zhengzhou 9
Atlanta 8
Chiari 8
Des Moines 8
Falkenstein 8
Falls Church 8
Guayaquil 8
Johannesburg 8
Modena 8
Parma 8
Vienna 8
Xi'an 8
Bangkok 7
Denver 7
Hangzhou 7
Montreal 7
Ottawa 7
Paris 7
Qingdao 7
Rio de Janeiro 7
Shenzhen 7
Shijiazhuang 7
Tianjin 7
Abeokuta 6
Totale 5.318
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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. 361
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 314
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 297
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 257
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 253
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases 253
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 251
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 248
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 233
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 231
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 230
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 224
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 222
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 220
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 219
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 216
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 210
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 207
Long read sequencing on its way to the routine diagnostics of genetic diseases 203
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 198
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 182
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 177
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 177
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 171
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 170
Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells 167
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 165
EX-HOM (EXome-HOMozygosity): a proof of principle 159
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 159
Familial DMRT1-related non-obstructive azoospermia: a case report 156
Characterization of BRCA Deficiency in Ovarian Cancer 151
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome 148
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 145
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 145
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 143
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature 143
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) 141
Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers 136
Corrigendum: Messenger RNA processing is altered in autosomal dominant leukodystrophy [Human Molecular Genetics, 24 (2015) (2746-2756)] DOI:10.1093/hmg/ddv034 136
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 128
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 125
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? 117
Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder 115
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders 107
null 103
Is it worth a CGH array? MBD5 haploinsufficiency and clinical variability in MBD5-associated neurodevelopmental disorder: a case report 88
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype 84
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) 75
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force 73
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy 68
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) 68
Cascade testing as the missing link in cancer prevention among Lynch syndrome families 55
Totale 9.024
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Categoria #
all - tutte 24.835
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 24.835
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022785 0 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
2025/20263.166 272 318 260 278 300 155 312 116 584 273 182 116
2026/2027226 104 122 0 0 0 0 0 0 0 0 0 0
Totale 9.024