IRIS
MATTINA, Teresa
 Distribuzione geografica
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Continente #
NA - Nord America 5.728
EU - Europa 2.729
AS - Asia 2.325
SA - Sud America 461
AF - Africa 171
Continente sconosciuto - Info sul continente non disponibili 6
OC - Oceania 6
Totale 11.426
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Nazione #
US - Stati Uniti d'America 5.512
SG - Singapore 1.050
IT - Italia 894
CN - Cina 789
UA - Ucraina 630
IE - Irlanda 573
BR - Brasile 387
HK - Hong Kong 210
CA - Canada 192
RU - Federazione Russa 159
DE - Germania 142
CI - Costa d'Avorio 127
VN - Vietnam 99
SE - Svezia 86
GB - Regno Unito 56
IN - India 48
FR - Francia 42
NL - Olanda 41
EC - Ecuador 23
AR - Argentina 22
KR - Corea 19
AT - Austria 17
BD - Bangladesh 17
CH - Svizzera 16
UZ - Uzbekistan 16
MX - Messico 15
IR - Iran 14
TR - Turchia 13
FI - Finlandia 12
GR - Grecia 12
PL - Polonia 12
SN - Senegal 12
ZA - Sudafrica 12
MA - Marocco 9
CL - Cile 7
HU - Ungheria 7
LB - Libano 7
VE - Venezuela 7
ES - Italia 6
JP - Giappone 6
CO - Colombia 5
ID - Indonesia 5
IQ - Iraq 5
PK - Pakistan 5
CZ - Repubblica Ceca 4
EU - Europa 4
PY - Paraguay 4
AU - Australia 3
EG - Egitto 3
LT - Lituania 3
MD - Moldavia 3
NP - Nepal 3
PE - Perù 3
SA - Arabia Saudita 3
TN - Tunisia 3
UY - Uruguay 3
BE - Belgio 2
BG - Bulgaria 2
BN - Brunei Darussalam 2
HN - Honduras 2
JM - Giamaica 2
KE - Kenya 2
KZ - Kazakistan 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
SM - San Marino 2
A1 - Anonimo 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
AM - Armenia 1
AZ - Azerbaigian 1
BB - Barbados 1
BH - Bahrain 1
BY - Bielorussia 1
CG - Congo 1
CY - Cipro 1
DO - Repubblica Dominicana 1
GE - Georgia 1
HR - Croazia 1
IL - Israele 1
IS - Islanda 1
JO - Giordania 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
MC - Monaco 1
MT - Malta 1
NI - Nicaragua 1
NR - Nauru 1
OM - Oman 1
PA - Panama 1
PT - Portogallo 1
SI - Slovenia 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 11.426
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Città #
Dallas 1.052
Jacksonville 632
Dublin 568
Chandler 561
Santa Clara 554
Singapore 525
Chicago 312
Boardman 256
Nanjing 209
Cambridge 166
Lawrence 166
Andover 164
Toronto 159
Abidjan 127
Ashburn 124
Catania 114
San Mateo 109
Houston 104
Beijing 86
Des Moines 85
Wilmington 75
Bremen 68
Nanchang 64
Hefei 59
Milan 58
Los Angeles 57
Hebei 51
Shenyang 47
Rome 44
Saint Petersburg 39
Civitanova Marche 34
Ho Chi Minh City 33
Grafing 32
Changsha 31
Tianjin 29
Jiaxing 28
São Paulo 27
Ottawa 25
Council Bluffs 22
Hanoi 22
Munich 20
The Dalles 20
Palermo 19
Seoul 19
Seattle 18
Columbus 17
New York 17
Rio de Janeiro 16
Kochi 15
Buffalo 14
Turin 13
Ardabil 12
Brooklyn 12
Dakar 12
Mumbai 12
Norwalk 12
Dong Ket 11
Hangzhou 11
Moscow 11
Ningbo 11
Stockholm 11
Belo Horizonte 10
Falls Church 10
Guayaquil 10
Phoenix 10
Redondo Beach 10
Amsterdam 9
Augusta 9
Bologna 9
Civitavecchia 9
Dearborn 9
Guarulhos 9
Jinan 9
Leawood 9
Ann Arbor 8
Brasília 8
Curitiba 8
Kunming 8
Liberty Lake 8
Napoli 8
Pune 8
San Francisco 8
Tashkent 8
Washington 8
Zhengzhou 8
Budapest 7
Charlotte 7
Gela 7
Helsinki 7
Johannesburg 7
Palagonia 7
Campinas 6
Edinburgh 6
Frankfurt Am Main 6
Livorno 6
Modena 6
Naples 6
Padova 6
Rovigo 6
Salvador 6
Totale 7.527
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Nome #
B-cell acute lymphoblastic leukemia and isochromosome 7q 271
RIARRANGIAMENTI DEL TIPO INV DUP DEL IN CINQUE DIVERSI CROMOSOMI AD ANELLO: UN NUOVO MECCANISMO PER LA STABILIZZAZIONE DI CROMOSOMI ROTTI. 190
PARALISI CEREBRALI INFANTILI E PARAPLEGIE SPASTICHE EREDITARIE 178
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 168
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 155
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes 138
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 131
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 131
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 129
Familial 18q12.2 deletion supports the role of RNA-bindingprotein CELF4 in autism spectrum disorders 120
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome 117
Correlazione genotipo/fenotipo nella Sclerosi Tuberosa (TSC1 vs. TSC2) in 81 pazienti siciliani 112
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 112
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 108
Prophylaxis with the novel immunomodulator pidotimod reduces the frequency and severity of upper respiratory tract infections in children with Down's syndrome 106
A new cause of ambiguous genitalia: multiple malformation syndrome related to unbalanced translocation 46,XY t(7;16) 103
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 100
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 99
Mosaicismo diploide tetraploide: Caso clinico 98
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome 97
Chromosome 15 structural abnormalities: effect on the IGF1R gene expression and function 96
La sindrome di Williams. Caso clinico 95
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation 91
Altered replication timing in the 22q11.2 band of the non-deleted DiGeorge and Velocardiofacial sindrome patients 89
Trisomia 9 completa, in un soggetto portatore di una rara variante del cromosoma 9 88
La sindrome di Down 88
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 88
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 87
Anorectal malformation associated with spinal dysraphism: clinical and genetic evaluation 85
A prospective study of 18 infants of chronic HBsAg mothers 85
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 85
Anomalie delle pigmentazione cutanea nelle sindromi cromosomiche 84
Analisi cromosomica 83
Trisomia 8 a mosaico. Descrizione di un caso. 83
Narrowing the deleted region associated with the 15q21 syndrome 81
Micromegakarycytes in a patient with partial deletion of the long arm of chromosome 11 del (ll)(q24.2qter)] and chronic thrombocytopenic purpura 81
Analisi per array-CGH di 14 casi di riarrangiamenti del cromosoma 13: correlazioni genotipo/fenotipo 79
Array-CGH in 400 patients with idiopathic mental retardation 78
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] 78
Bone islands. 78
Growth hormone, gender and face shape in prader-willi syndrome 77
Twins with acardia and anencephaly 77
Un caso di sindrome di Satoyoshi 77
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 77
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 77
Profilo metacarpofalangeo in una paziente con mos46,XX, del8p23.2/46,XX, iso8qter->p23.1::p23.1->qter:rappresentazione grafica e discussione 76
Reperti citogenetici in un caso di leucemia connatale indifferenziata 76
Maternal transmission of HBV infection 75
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 74
A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)] 74
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 74
Duplication 9p due to unequal sister chromatid exchange 73
Jacobsen syndrome 73
Partial trisomy 12q: report of a case and review 73
Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome 72
TRISOMY 8 MOSAICISM - CASE-REPORT 71
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) 71
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. 71
Cri du Chat Syndrome [La sindrome del cri du chat] 71
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 71
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 71
Wolfram's syndrome and HLA 70
Il pediatra di famiglia e il bambino Down. Proposta di un protocollo di assistenza.1993 70
Mutation of FGFR3 in a patient with craniosynostosis, hypocondroplasia and growth hormone deficiency 70
Opposite effects on facial morphology due to gene dosage sensitivity 70
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 70
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 70
Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion 69
Siindrome dii Gorlli in un paziente con mutazione del gene PTCH1 69
Angelman syndrome and vermian cyst 69
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 69
Craniofacial characteristics of fragile X syndrome in mouse and man 68
Sindrome polimalformativa associata a ipersensibilità a diversi agenti mutageni in un paziente figlio di consanguinei 68
Antley-Bixler syndrome 68
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 67
Non-contiguous 8p23 deletions in a case with del(8)(p23.1)/psu dic(8)(p23.2) mosaicism 67
RFLP analysis in 5 Sicilian families with the fragile X syndrome 66
L'ospedale di giorno pediatrico. Consuntivo di un anno di attività [The pediatric day-hospital. Report of the first year's activity] 66
CLINICAL AND CYTOGENETICS ASSESSMENT OF PATIENTS WITH CHROMOSOME DISORDERS 66
Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients 66
Phenotipic variability in the Nager syndrome. Report of 4 unrelated patients. A collaborative study 65
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation 65
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 65
Complex chromosome rearrangements. Report of three new cases 64
Esposizione al benzene: confronto tra indici biochimici, SCE e tipizzazione genica 64
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 64
Balanced complex rearrangements: how many are really balanced? 64
Mild cystic fibrosis in patients with the rare P5L CFTR mutation 63
Multiple malformations in a patient with unbalanced translocation 46,XY T(7;16) and ambiguous genitalia 63
Nuovi orizzonti della vecchia genetica. 62
Clinical and cytogentics assesment of patients with chromosome disorders 62
Bassa statura e deformità di Madelung (Leri-Weill Dyscondrosteosis) in una paziente con una nuova mutazione del gene SHOX: G>A nt503 (R168Q) 62
Un caso di disostosi acrodentale di Weyers con nuova mutazione del gene EVC2 62
Unstable translocations: a new case? 61
Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1 61
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) 60
Due casi di sindrome da microdelezione 17q21.31 60
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 59
IGF-1R: it is involved in etiopathogenesis of human gonadal abnormalities? 59
Un caso di displasia di Kniest 59
Totale 8.458
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Categoria #
all - tutte 40.219
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 40.219
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021811 0 0 0 0 291 25 119 8 128 16 170 54
2021/20221.251 160 173 18 24 187 8 176 47 141 16 37 264
2022/20232.085 175 53 19 203 203 334 8 509 451 40 65 25
2023/2024655 49 69 35 62 36 92 6 54 8 45 126 73
2024/20252.696 59 574 181 93 564 188 43 115 224 284 186 185
2025/20262.190 295 216 1.093 361 225 0 0 0 0 0 0 0
Totale 11.645