IRIS
MATTINA, Teresa
 Distribuzione geografica
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Continente #
NA - Nord America 5.823
EU - Europa 3.445
AS - Asia 2.795
SA - Sud America 486
AF - Africa 176
Continente sconosciuto - Info sul continente non disponibili 6
OC - Oceania 6
Totale 12.737
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Nazione #
US - Stati Uniti d'America 5.601
SG - Singapore 1.477
IT - Italia 910
RU - Federazione Russa 856
CN - Cina 797
UA - Ucraina 630
IE - Irlanda 570
BR - Brasile 401
HK - Hong Kong 211
CA - Canada 196
DE - Germania 143
CI - Costa d'Avorio 127
VN - Vietnam 119
SE - Svezia 88
GB - Regno Unito 57
IN - India 49
FR - Francia 42
NL - Olanda 40
AR - Argentina 27
EC - Ecuador 23
BD - Bangladesh 20
KR - Corea 19
AT - Austria 17
CH - Svizzera 16
MX - Messico 16
UZ - Uzbekistan 16
IR - Iran 14
PL - Polonia 14
TR - Turchia 14
ZA - Sudafrica 14
FI - Finlandia 12
SN - Senegal 12
GR - Grecia 11
CL - Cile 9
JP - Giappone 9
MA - Marocco 9
VE - Venezuela 9
ID - Indonesia 8
ES - Italia 7
HU - Ungheria 7
IQ - Iraq 7
LB - Libano 7
CO - Colombia 5
PK - Pakistan 5
CZ - Repubblica Ceca 4
EG - Egitto 4
EU - Europa 4
LT - Lituania 4
NP - Nepal 4
PE - Perù 4
PY - Paraguay 4
AU - Australia 3
JM - Giamaica 3
MD - Moldavia 3
SA - Arabia Saudita 3
TN - Tunisia 3
UY - Uruguay 3
BE - Belgio 2
BG - Bulgaria 2
BJ - Benin 2
BN - Brunei Darussalam 2
HN - Honduras 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
GY - Guiana 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 12.737
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Città #
Dallas 1.051
Singapore 791
Jacksonville 628
Dublin 565
Chandler 561
Santa Clara 553
Moscow 315
Chicago 313
Boardman 255
Nanjing 208
Ashburn 171
Cambridge 165
Lawrence 165
Andover 163
Toronto 161
Abidjan 127
Catania 121
San Mateo 109
Houston 105
Beijing 86
Des Moines 85
Wilmington 74
Los Angeles 69
Bremen 68
Nanchang 64
Hefei 59
Milan 59
Hebei 50
Shenyang 47
Rome 44
Ho Chi Minh City 39
Saint Petersburg 39
Civitanova Marche 34
Changsha 31
Grafing 31
São Paulo 31
Tianjin 30
Buffalo 29
Jiaxing 28
Ottawa 25
Hanoi 24
Council Bluffs 22
Munich 20
The Dalles 20
New York 19
Palermo 19
Seoul 19
Columbus 17
Seattle 17
Rio de Janeiro 16
Kochi 15
Stockholm 13
Turin 13
Amsterdam 12
Ardabil 12
Brooklyn 12
Dakar 12
Mumbai 12
Norwalk 12
Dong Ket 11
Hangzhou 11
Ningbo 11
Phoenix 11
Belo Horizonte 10
Falls Church 10
Guayaquil 10
Redondo Beach 10
San Jose 10
Augusta 9
Bologna 9
Civitavecchia 9
Dearborn 9
Guarulhos 9
Jinan 9
Leawood 9
Ann Arbor 8
Brasília 8
Curitiba 8
Johannesburg 8
Kunming 8
Liberty Lake 8
Napoli 8
Pune 8
San Francisco 8
Tashkent 8
Tokyo 8
Warsaw 8
Washington 8
Zhengzhou 8
Budapest 7
Charlotte 7
Gela 7
Helsinki 7
Palagonia 7
Campinas 6
Edinburgh 6
Florence 6
Frankfurt Am Main 6
Livorno 6
Modena 6
Totale 8.195
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Nome #
B-cell acute lymphoblastic leukemia and isochromosome 7q 279
RIARRANGIAMENTI DEL TIPO INV DUP DEL IN CINQUE DIVERSI CROMOSOMI AD ANELLO: UN NUOVO MECCANISMO PER LA STABILIZZAZIONE DI CROMOSOMI ROTTI. 198
PARALISI CEREBRALI INFANTILI E PARAPLEGIE SPASTICHE EREDITARIE 185
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 176
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 175
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes 167
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 154
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 152
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 152
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome 141
Correlazione genotipo/fenotipo nella Sclerosi Tuberosa (TSC1 vs. TSC2) in 81 pazienti siciliani 133
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 132
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 127
Familial 18q12.2 deletion supports the role of RNA-bindingprotein CELF4 in autism spectrum disorders 127
A new cause of ambiguous genitalia: multiple malformation syndrome related to unbalanced translocation 46,XY t(7;16) 123
Chromosome 15 structural abnormalities: effect on the IGF1R gene expression and function 120
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 119
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome 118
Prophylaxis with the novel immunomodulator pidotimod reduces the frequency and severity of upper respiratory tract infections in children with Down's syndrome 112
Altered replication timing in the 22q11.2 band of the non-deleted DiGeorge and Velocardiofacial sindrome patients 112
Anorectal malformation associated with spinal dysraphism: clinical and genetic evaluation 109
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 108
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 106
Anomalie delle pigmentazione cutanea nelle sindromi cromosomiche 105
Mosaicismo diploide tetraploide: Caso clinico 103
La sindrome di Williams. Caso clinico 102
Analisi cromosomica 101
A prospective study of 18 infants of chronic HBsAg mothers 101
Analisi per array-CGH di 14 casi di riarrangiamenti del cromosoma 13: correlazioni genotipo/fenotipo 99
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 99
Bone islands. 98
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation 97
A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)] 93
La sindrome di Down 93
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 93
Trisomia 9 completa, in un soggetto portatore di una rara variante del cromosoma 9 92
Trisomia 8 a mosaico. Descrizione di un caso. 91
Narrowing the deleted region associated with the 15q21 syndrome 88
Micromegakarycytes in a patient with partial deletion of the long arm of chromosome 11 del (ll)(q24.2qter)] and chronic thrombocytopenic purpura 88
Angelman syndrome and vermian cyst 88
Antley-Bixler syndrome 87
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 85
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 85
Reperti citogenetici in un caso di leucemia connatale indifferenziata 84
Twins with acardia and anencephaly 84
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 84
Array-CGH in 400 patients with idiopathic mental retardation 83
Growth hormone, gender and face shape in prader-willi syndrome 82
Un caso di sindrome di Satoyoshi 82
Maternal transmission of HBV infection 81
Profilo metacarpofalangeo in una paziente con mos46,XX, del8p23.2/46,XX, iso8qter->p23.1::p23.1->qter:rappresentazione grafica e discussione 81
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 81
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] 80
Jacobsen syndrome 79
Il pediatra di famiglia e il bambino Down. Proposta di un protocollo di assistenza.1993 78
Mutation of FGFR3 in a patient with craniosynostosis, hypocondroplasia and growth hormone deficiency 78
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) 78
Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome 77
Duplication 9p due to unequal sister chromatid exchange 77
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. 77
Partial trisomy 12q: report of a case and review 77
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 77
TRISOMY 8 MOSAICISM - CASE-REPORT 76
Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion 76
Cri du Chat Syndrome [La sindrome del cri du chat] 76
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 76
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 76
Wolfram's syndrome and HLA 75
Opposite effects on facial morphology due to gene dosage sensitivity 75
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 75
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 75
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation 75
Craniofacial characteristics of fragile X syndrome in mouse and man 74
Siindrome dii Gorlli in un paziente con mutazione del gene PTCH1 74
Sindrome polimalformativa associata a ipersensibilità a diversi agenti mutageni in un paziente figlio di consanguinei 73
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 73
Non-contiguous 8p23 deletions in a case with del(8)(p23.1)/psu dic(8)(p23.2) mosaicism 73
RFLP analysis in 5 Sicilian families with the fragile X syndrome 72
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 72
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 72
Phenotipic variability in the Nager syndrome. Report of 4 unrelated patients. A collaborative study 71
Complex chromosome rearrangements. Report of three new cases 71
Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients 71
Clinical and cytogentics assesment of patients with chromosome disorders 71
Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1 70
Nuovi orizzonti della vecchia genetica. 69
Multiple malformations in a patient with unbalanced translocation 46,XY T(7;16) and ambiguous genitalia 69
L'ospedale di giorno pediatrico. Consuntivo di un anno di attività [The pediatric day-hospital. Report of the first year's activity] 69
CLINICAL AND CYTOGENETICS ASSESSMENT OF PATIENTS WITH CHROMOSOME DISORDERS 69
Un caso di disostosi acrodentale di Weyers con nuova mutazione del gene EVC2 69
Balanced complex rearrangements: how many are really balanced? 69
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 68
Mild cystic fibrosis in patients with the rare P5L CFTR mutation 68
Bassa statura e deformità di Madelung (Leri-Weill Dyscondrosteosis) in una paziente con una nuova mutazione del gene SHOX: G>A nt503 (R168Q) 68
Unstable translocations: a new case? 67
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) 67
Esposizione al benzene: confronto tra indici biochimici, SCE e tipizzazione genica 67
Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion 67
IGF-1R: it is involved in etiopathogenesis of human gonadal abnormalities? 66
Due casi di sindrome da microdelezione 17q21.31 66
Totale 9.443
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Categoria #
all - tutte 42.463
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 42.463
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021516 0 0 0 0 0 25 118 8 127 16 168 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
2025/20263.534 295 215 1.091 360 827 746 0 0 0 0 0 0
Totale 12.955