IRIS
MATTINA, Teresa
 Distribuzione geografica
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Continente #
NA - Nord America 6.604
EU - Europa 3.782
AS - Asia 3.336
SA - Sud America 566
AF - Africa 293
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 6
Totale 14.594
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Nazione #
US - Stati Uniti d'America 6.341
SG - Singapore 1.691
IT - Italia 1.023
RU - Federazione Russa 858
CN - Cina 850
UA - Ucraina 631
IE - Irlanda 572
BR - Brasile 447
VN - Vietnam 229
HK - Hong Kong 220
CA - Canada 213
FR - Francia 200
DE - Germania 157
CI - Costa d'Avorio 127
SE - Svezia 93
NG - Nigeria 85
GB - Regno Unito 69
IN - India 67
KR - Corea 63
BD - Bangladesh 46
NL - Olanda 46
AR - Argentina 45
EC - Ecuador 27
IQ - Iraq 27
MX - Messico 25
TR - Turchia 22
ZA - Sudafrica 21
AT - Austria 19
CH - Svizzera 17
PL - Polonia 16
UZ - Uzbekistan 16
VE - Venezuela 16
IR - Iran 14
FI - Finlandia 13
SN - Senegal 13
ES - Italia 12
ID - Indonesia 12
JP - Giappone 12
EG - Egitto 11
GR - Grecia 11
MA - Marocco 11
CL - Cile 9
PK - Pakistan 9
LB - Libano 8
SA - Arabia Saudita 8
CO - Colombia 7
HU - Ungheria 7
TN - Tunisia 7
JM - Giamaica 6
LT - Lituania 6
PE - Perù 6
CZ - Repubblica Ceca 5
KE - Kenya 5
MY - Malesia 5
NP - Nepal 5
CR - Costa Rica 4
DZ - Algeria 4
EU - Europa 4
JO - Giordania 4
MD - Moldavia 4
PY - Paraguay 4
RO - Romania 4
UY - Uruguay 4
AE - Emirati Arabi Uniti 3
AU - Australia 3
BE - Belgio 3
ET - Etiopia 3
GE - Georgia 3
GT - Guatemala 3
KZ - Kazakistan 3
PH - Filippine 3
PT - Portogallo 3
AL - Albania 2
AM - Armenia 2
AO - Angola 2
AZ - Azerbaigian 2
BB - Barbados 2
BG - Bulgaria 2
BJ - Benin 2
BN - Brunei Darussalam 2
DO - Repubblica Dominicana 2
HN - Honduras 2
IL - Israele 2
KW - Kuwait 2
NZ - Nuova Zelanda 2
SM - San Marino 2
TT - Trinidad e Tobago 2
A1 - Anonimo 1
BH - Bahrain 1
BS - Bahamas 1
BY - Bielorussia 1
CG - Congo 1
CY - Cipro 1
GY - Guiana 1
HR - Croazia 1
IS - Islanda 1
KG - Kirghizistan 1
KH - Cambogia 1
MC - Monaco 1
MT - Malta 1
Totale 14.583
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Città #
Dallas 1.055
Singapore 925
Jacksonville 629
Dublin 567
Chandler 561
Santa Clara 561
San Jose 444
Chicago 317
Moscow 315
Ashburn 267
Boardman 256
Nanjing 208
Toronto 167
Cambridge 165
Lawrence 165
Andover 163
Catania 155
Lauterbourg 145
Abidjan 127
Houston 109
San Mateo 109
Beijing 90
Des Moines 85
Los Angeles 82
Ho Chi Minh City 81
Wilmington 75
Bremen 68
Milan 67
Nanchang 64
Seoul 63
Hefei 59
Hanoi 56
Hebei 50
Rome 50
Shenyang 47
Council Bluffs 46
New York 40
Abuja 39
Saint Petersburg 39
São Paulo 37
Civitanova Marche 34
Lagos 33
Changsha 31
Grafing 31
Buffalo 30
Tianjin 30
Jiaxing 28
Ottawa 25
Palermo 21
Seattle 21
The Dalles 21
Munich 20
Columbus 18
Orem 18
Rio de Janeiro 17
Mumbai 16
Stockholm 16
Kochi 15
Turin 15
Amsterdam 14
Brooklyn 14
Johannesburg 14
Dakar 13
Montreal 13
Port Harcourt 13
Ardabil 12
Guayaquil 12
Norwalk 12
Phoenix 12
Belo Horizonte 11
Dong Ket 11
Hangzhou 11
Hong Kong 11
Naples 11
Ningbo 11
Baghdad 10
Bologna 10
Denver 10
Falls Church 10
Redondo Beach 10
Tokyo 10
Warsaw 10
Augusta 9
Brasília 9
Civitavecchia 9
Da Nang 9
Dearborn 9
Guarulhos 9
Jinan 9
Leawood 9
Ann Arbor 8
Charlotte 8
Curitiba 8
Kunming 8
Liberty Lake 8
London 8
Napoli 8
Pune 8
San Francisco 8
Tashkent 8
Totale 9.405
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Nome #
B-cell acute lymphoblastic leukemia and isochromosome 7q 294
RIARRANGIAMENTI DEL TIPO INV DUP DEL IN CINQUE DIVERSI CROMOSOMI AD ANELLO: UN NUOVO MECCANISMO PER LA STABILIZZAZIONE DI CROMOSOMI ROTTI. 257
PARALISI CEREBRALI INFANTILI E PARAPLEGIE SPASTICHE EREDITARIE 202
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 191
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 186
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 185
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes 180
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 174
Aglossia e Tetralogia di Fallot in una paziente con cariotipo 46, XX, cgh ish der (18)t (6; 18) (p22.1; p11.23) pat, confermato con FISH e CGH 162
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome 159
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 155
Correlazione genotipo/fenotipo nella Sclerosi Tuberosa (TSC1 vs. TSC2) in 81 pazienti siciliani 151
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 142
Aglossia e Tetralogia di Fallot in una paziente con cariotipo 46, XX, cgh ish der(18)t(6;18)(p22.3;p11.23) pat, confermato da indagini FISH e CGH 140
Familial 18q12.2 deletion supports the role of RNA-bindingprotein CELF4 in autism spectrum disorders 138
A new cause of ambiguous genitalia: multiple malformation syndrome related to unbalanced translocation 46,XY t(7;16) 136
Chromosome 15 structural abnormalities: effect on the IGF1R gene expression and function 134
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 131
Analisi cromosomica 128
Altered replication timing in the 22q11.2 band of the non-deleted DiGeorge and Velocardiofacial sindrome patients 128
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome 126
Anorectal malformation associated with spinal dysraphism: clinical and genetic evaluation 125
Prophylaxis with the novel immunomodulator pidotimod reduces the frequency and severity of upper respiratory tract infections in children with Down's syndrome 123
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 118
La sindrome di Down 116
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 114
Bone islands. 114
Anomalie delle pigmentazione cutanea nelle sindromi cromosomiche 113
A prospective study of 18 infants of chronic HBsAg mothers 113
La sindrome di Williams. Caso clinico 111
Analisi per array-CGH di 14 casi di riarrangiamenti del cromosoma 13: correlazioni genotipo/fenotipo 111
Mosaicismo diploide tetraploide: Caso clinico 110
A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)] 108
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation 105
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 103
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 101
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 100
Trisomia 9 completa, in un soggetto portatore di una rara variante del cromosoma 9 99
Micromegakarycytes in a patient with partial deletion of the long arm of chromosome 11 del (ll)(q24.2qter)] and chronic thrombocytopenic purpura 98
Narrowing the deleted region associated with the 15q21 syndrome 97
Jacobsen syndrome 96
Reperti citogenetici in un caso di leucemia connatale indifferenziata 96
Angelman syndrome and vermian cyst 96
Antley-Bixler syndrome 96
Trisomia 8 a mosaico. Descrizione di un caso. 95
Twins with acardia and anencephaly 94
Annales del Génétique - The natural history of AHO/del12q37 syndrome: evidence of evolutionary aspects from prospective and retrospective studies in 2 patients for a period of 23 and 4 years 94
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 94
Su di un caso di cromosoma Y con satelliti (Yqs) associato a trisomia 21 [A satellited Y chromosome (Yqs) associated with trisomy 21: Case report] 93
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 93
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 92
Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome 92
Array-CGH in 400 patients with idiopathic mental retardation 92
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 91
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 91
Profilo metacarpofalangeo in una paziente con mos46,XX, del8p23.2/46,XX, iso8qter->p23.1::p23.1->qter:rappresentazione grafica e discussione 90
Mutation of FGFR3 in a patient with craniosynostosis, hypocondroplasia and growth hormone deficiency 89
Un caso di sindrome di Satoyoshi 89
Maternal transmission of HBV infection 88
Growth hormone, gender and face shape in prader-willi syndrome 88
Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1 88
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 87
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 87
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 86
TRISOMY 8 MOSAICISM - CASE-REPORT 85
Il pediatra di famiglia e il bambino Down. Proposta di un protocollo di assistenza.1993 85
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. 85
Craniofacial characteristics of fragile X syndrome in mouse and man 85
Duplication 9p due to unequal sister chromatid exchange 84
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) 84
Partial trisomy 12q: report of a case and review 84
Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients 84
Clinical and cytogentics assesment of patients with chromosome disorders 84
Siindrome dii Gorlli in un paziente con mutazione del gene PTCH1 84
Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion 83
RFLP analysis in 5 Sicilian families with the fragile X syndrome 83
Sindrome polimalformativa associata a ipersensibilità a diversi agenti mutageni in un paziente figlio di consanguinei 83
THE NATURAL HISTORY OF AHO/DEL2Q37 SYNDROME: EVIDENCE OF EVOLUTIONARY ASPECTS FROM PROSPECTIVE AND RETROSPECTIVE STUDIES IN 2 PATIENTS FOR A PERIOD OF 23 AND 4 YEARS 82
Bassa statura e deformità di Madelung (Leri-Weill Dyscondrosteosis) in una paziente con una nuova mutazione del gene SHOX: G>A nt503 (R168Q) 82
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 82
Wolfram's syndrome and HLA 81
Mild cystic fibrosis in patients with the rare P5L CFTR mutation 81
Cri du Chat Syndrome [La sindrome del cri du chat] 81
Paraplegie spastiche ereditarie 81
Non-contiguous 8p23 deletions in a case with del(8)(p23.1)/psu dic(8)(p23.2) mosaicism 81
Opposite effects on facial morphology due to gene dosage sensitivity 80
Complex chromosome rearrangements. Report of three new cases 80
Chromosome fragility in glutathione synthetase deficiency 80
Balanced complex rearrangements: how many are really balanced? 80
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation 80
High occurrence of Brachydactyly-Mental Retardation syndrome among mentally retarded subjects in Italy 80
Phenotipic variability in the Nager syndrome. Report of 4 unrelated patients. A collaborative study 79
CLINICAL AND CYTOGENETICS ASSESSMENT OF PATIENTS WITH CHROMOSOME DISORDERS 79
Un caso di displasia di Kniest 79
Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion 79
Multiple malformations in a patient with unbalanced translocation 46,XY T(7;16) and ambiguous genitalia 78
L'ospedale di giorno pediatrico. Consuntivo di un anno di attività [The pediatric day-hospital. Report of the first year's activity] 78
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) 78
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 78
Esposizione al benzene: confronto tra indici biochimici, SCE e tipizzazione genica 76
Totale 10.703
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Categoria #
all - tutte 48.179
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 48.179
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202154 0 0 0 0 0 0 0 0 0 0 0 54
2021/20221.245 159 172 18 24 186 8 175 46 141 16 37 263
2022/20232.081 174 53 19 203 203 333 8 509 449 40 65 25
2023/2024653 49 69 35 62 36 92 6 53 8 45 125 73
2024/20252.684 59 573 180 93 561 188 43 115 218 283 186 185
2025/20265.391 295 215 1.091 360 827 901 747 136 273 322 123 101
Totale 14.812