CRIS Current Research Information System

MAGINI, PAMELA
 Distribuzione geografica
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Continente #
AS - Asia 2.912
NA - Nord America 2.864
EU - Europa 2.117
AF - Africa 185
SA - Sud America 153
OC - Oceania 3
Totale 8.234
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Nazione #
US - Stati Uniti d'America 2.824
VN - Vietnam 878
SG - Singapore 728
CN - Cina 721
IT - Italia 641
GB - Regno Unito 330
SE - Svezia 237
DE - Germania 220
HK - Hong Kong 186
FR - Francia 130
IN - India 114
NL - Olanda 111
BR - Brasile 109
RU - Federazione Russa 86
KR - Corea 78
IE - Irlanda 71
CI - Costa d'Avorio 64
UA - Ucraina 62
FI - Finlandia 53
JP - Giappone 37
ZA - Sudafrica 36
TG - Togo 35
SC - Seychelles 31
CA - Canada 24
CH - Svizzera 24
ID - Indonesia 24
BG - Bulgaria 23
PL - Polonia 23
AT - Austria 21
JO - Giordania 21
PH - Filippine 21
BE - Belgio 19
EE - Estonia 19
AR - Argentina 18
BD - Bangladesh 16
ES - Italia 14
EC - Ecuador 13
TH - Thailandia 13
TR - Turchia 11
UZ - Uzbekistan 11
IQ - Iraq 10
TW - Taiwan 10
MX - Messico 9
HR - Croazia 8
NG - Nigeria 8
SA - Arabia Saudita 7
IR - Iran 6
LT - Lituania 6
PY - Paraguay 5
CO - Colombia 4
CZ - Repubblica Ceca 4
DZ - Algeria 4
AL - Albania 3
AU - Australia 3
BH - Bahrain 3
CL - Cile 3
ET - Etiopia 3
JM - Giamaica 3
LB - Libano 3
RO - Romania 3
DO - Repubblica Dominicana 2
GR - Grecia 2
IL - Israele 2
MA - Marocco 2
MY - Malesia 2
PK - Pakistan 2
PT - Portogallo 2
AZ - Azerbaigian 1
DK - Danimarca 1
EG - Egitto 1
GE - Georgia 1
GM - Gambi 1
IS - Islanda 1
KG - Kirghizistan 1
KH - Cambogia 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LV - Lettonia 1
MD - Moldavia 1
MN - Mongolia 1
PA - Panama 1
SK - Slovacchia (Repubblica Slovacca) 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
VE - Venezuela 1
Totale 8.234
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Città #
Singapore 518
Ashburn 342
Southend 263
Fairfield 258
Chandler 209
Hong Kong 170
Bologna 167
Ho Chi Minh City 164
Hefei 158
San Jose 145
Woodbridge 144
Dong Ket 127
Hanoi 123
Seattle 111
Wilmington 110
Ann Arbor 101
Cambridge 98
Santa Clara 98
Houston 92
Princeton 78
Beijing 73
Dublin 71
Seoul 69
Abidjan 64
Boardman 57
Los Angeles 53
Helsinki 43
Lauterbourg 41
Dallas 39
Milan 38
Council Bluffs 36
Lomé 35
Turin 35
New York 34
Redmond 34
Tokyo 34
Florence 31
Westminster 30
Jacksonville 29
Nanjing 29
Da Nang 28
Haiphong 25
Redondo Beach 24
Berlin 23
Amman 21
Padova 21
Sofia 21
Munich 20
Brussels 19
Shenyang 19
Warsaw 19
Buffalo 18
Jinan 18
Saint Petersburg 18
San Diego 17
Shanghai 17
Frankfurt am Main 16
Changsha 15
Jakarta 15
Bern 14
São Paulo 14
Amsterdam 13
Bengaluru 13
Nanchang 13
Chicago 12
Dearborn 12
Nuremberg 12
Rome 12
London 11
Mülheim 11
Boydton 10
Hebei 10
Phoenix 10
Guangzhou 9
Zhengzhou 9
Chiari 8
Des Moines 8
Falkenstein 8
Falls Church 8
Johannesburg 8
Vienna 8
Xi'an 8
Bangkok 7
Bari 7
Brooklyn 7
Guayaquil 7
Hangzhou 7
Modena 7
Ottawa 7
Paris 7
Parma 7
Qingdao 7
Shenzhen 7
Shijiazhuang 7
Tianjin 7
Abeokuta 6
Bến Tre 6
Chennai 6
Fornovo di Taro 6
Hải Dương 6
Totale 5.087
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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. 344
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 303
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 253
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 249
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases 247
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? 243
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 243
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 237
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 228
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 224
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 215
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 213
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 211
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 207
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 207
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 203
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 201
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration 200
Long read sequencing on its way to the routine diagnostics of genetic diseases 187
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 186
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 176
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 171
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations 169
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 165
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. 161
Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells 160
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 158
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 157
EX-HOM (EXome-HOMozygosity): a proof of principle 154
Familial DMRT1-related non-obstructive azoospermia: a case report 145
Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion 143
Characterization of BRCA Deficiency in Ovarian Cancer 143
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome 141
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 138
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield 133
Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers 133
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) 133
Corrigendum: Messenger RNA processing is altered in autosomal dominant leukodystrophy [Human Molecular Genetics, 24 (2015) (2746-2756)] DOI:10.1093/hmg/ddv034 131
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype. 126
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 120
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature 117
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? 114
null 103
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders 100
Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder 91
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype 75
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) 69
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force 64
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy 60
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) 59
Is it worth a CGH array? MBD5 haploinsufficiency and clinical variability in MBD5-associated neurodevelopmental disorder: a case report 32
Cascade testing as the missing link in cancer prevention among Lynch syndrome families 12
Totale 8.454
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Categoria #
all - tutte 22.137
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 22.137
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021342 0 0 0 0 0 0 0 0 0 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
2025/20262.822 272 318 260 278 300 155 312 116 584 227 0 0
Totale 8.454