IRIS
MATTINA, Teresa
 Distribuzione geografica
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Continente #
NA - Nord America 4.755
EU - Europa 2.686
AS - Asia 1.957
SA - Sud America 317
AF - Africa 126
Continente sconosciuto - Info sul continente non disponibili 6
OC - Oceania 6
Totale 9.853
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Nazione #
US - Stati Uniti d'America 4.548
SG - Singapore 878
IT - Italia 869
CN - Cina 683
UA - Ucraina 629
IE - Irlanda 572
BR - Brasile 282
HK - Hong Kong 210
CA - Canada 189
RU - Federazione Russa 156
DE - Germania 142
CI - Costa d'Avorio 94
SE - Svezia 85
GB - Regno Unito 51
IN - India 47
FR - Francia 42
NL - Olanda 40
VN - Vietnam 26
KR - Corea 19
AT - Austria 17
CH - Svizzera 15
UZ - Uzbekistan 15
BD - Bangladesh 14
IR - Iran 14
AR - Argentina 12
FI - Finlandia 12
GR - Grecia 12
MX - Messico 11
PL - Polonia 11
SN - Senegal 11
TR - Turchia 11
EC - Ecuador 9
ZA - Sudafrica 8
HU - Ungheria 7
LB - Libano 7
MA - Marocco 6
ES - Italia 5
IQ - Iraq 5
PK - Pakistan 5
VE - Venezuela 5
CO - Colombia 4
CZ - Repubblica Ceca 4
EU - Europa 4
JP - Giappone 4
AU - Australia 3
CL - Cile 3
MD - Moldavia 3
NP - Nepal 3
SA - Arabia Saudita 3
BE - Belgio 2
BG - Bulgaria 2
JM - Giamaica 2
KZ - Kazakistan 2
LT - Lituania 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
PY - Paraguay 2
SM - San Marino 2
TN - Tunisia 2
A1 - Anonimo 1
AL - Albania 1
AM - Armenia 1
AZ - Azerbaigian 1
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CG - Congo 1
CY - Cipro 1
DO - Repubblica Dominicana 1
EG - Egitto 1
GE - Georgia 1
HN - Honduras 1
ID - Indonesia 1
IS - Islanda 1
JO - Giordania 1
KE - Kenya 1
KG - Kirghizistan 1
KH - Cambogia 1
MC - Monaco 1
MT - Malta 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 9.853
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Città #
Jacksonville 632
Dublin 567
Chandler 561
Santa Clara 551
Singapore 522
Chicago 311
Boardman 256
Nanjing 209
Dallas 191
Cambridge 166
Lawrence 166
Andover 164
Toronto 157
Catania 109
San Mateo 109
Ashburn 107
Houston 104
Abidjan 94
Des Moines 85
Wilmington 75
Bremen 68
Nanchang 64
Hefei 56
Beijing 55
Milan 55
Hebei 51
Shenyang 47
Rome 41
Los Angeles 39
Saint Petersburg 39
Civitanova Marche 34
Grafing 32
Changsha 31
Tianjin 29
Jiaxing 28
Ottawa 25
Council Bluffs 22
Munich 20
The Dalles 20
Palermo 19
Seoul 19
São Paulo 19
Columbus 17
Seattle 16
Kochi 15
New York 13
Turin 13
Ardabil 12
Mumbai 12
Norwalk 12
Rio de Janeiro 12
Brooklyn 11
Dakar 11
Dong Ket 11
Hangzhou 11
Moscow 11
Ningbo 11
Falls Church 10
Stockholm 10
Bologna 9
Civitavecchia 9
Dearborn 9
Jinan 9
Leawood 9
Phoenix 9
Amsterdam 8
Ann Arbor 8
Augusta 8
Belo Horizonte 8
Guarulhos 8
Ho Chi Minh City 8
Kunming 8
Liberty Lake 8
Napoli 8
Pune 8
San Francisco 8
Washington 8
Zhengzhou 8
Budapest 7
Charlotte 7
Gela 7
Helsinki 7
Johannesburg 7
Palagonia 7
Tashkent 7
Curitiba 6
Edinburgh 6
Frankfurt Am Main 6
Livorno 6
Modena 6
Padova 6
Rovigo 6
Utrecht 6
Alcamo 5
Bari 5
Brasília 5
Dhaka 5
Lecce 5
Lucca 5
Ludwigshafen 5
Totale 6.447
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Nome #
B-cell acute lymphoblastic leukemia and isochromosome 7q 264
RIARRANGIAMENTI DEL TIPO INV DUP DEL IN CINQUE DIVERSI CROMOSOMI AD ANELLO: UN NUOVO MECCANISMO PER LA STABILIZZAZIONE DI CROMOSOMI ROTTI. 175
PARALISI CEREBRALI INFANTILI E PARAPLEGIE SPASTICHE EREDITARIE 169
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 157
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 146
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 123
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes 112
Familial 18q12.2 deletion supports the role of RNA-bindingprotein CELF4 in autism spectrum disorders 109
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 106
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 105
Correlazione genotipo/fenotipo nella Sclerosi Tuberosa (TSC1 vs. TSC2) in 81 pazienti siciliani 104
Prophylaxis with the novel immunomodulator pidotimod reduces the frequency and severity of upper respiratory tract infections in children with Down's syndrome 99
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 98
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome 94
Mosaicismo diploide tetraploide: Caso clinico 92
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 91
A new cause of ambiguous genitalia: multiple malformation syndrome related to unbalanced translocation 46,XY t(7;16) 89
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome 88
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 88
La sindrome di Williams. Caso clinico 87
Chromosome 15 structural abnormalities: effect on the IGF1R gene expression and function 85
Trisomia 9 completa, in un soggetto portatore di una rara variante del cromosoma 9 81
Trisomia 8 a mosaico. Descrizione di un caso. 78
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 78
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation 76
Analisi cromosomica 76
A prospective study of 18 infants of chronic HBsAg mothers 76
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 75
Altered replication timing in the 22q11.2 band of the non-deleted DiGeorge and Velocardiofacial sindrome patients 75
Anorectal malformation associated with spinal dysraphism: clinical and genetic evaluation 74
Un caso di sindrome di Satoyoshi 73
La sindrome di Down 73
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 73
Narrowing the deleted region associated with the 15q21 syndrome 72
Micromegakarycytes in a patient with partial deletion of the long arm of chromosome 11 del (ll)(q24.2qter)] and chronic thrombocytopenic purpura 72
Analisi per array-CGH di 14 casi di riarrangiamenti del cromosoma 13: correlazioni genotipo/fenotipo 72
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 72
Maternal transmission of HBV infection 71
Anomalie delle pigmentazione cutanea nelle sindromi cromosomiche 71
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 70
Profilo metacarpofalangeo in una paziente con mos46,XX, del8p23.2/46,XX, iso8qter->p23.1::p23.1->qter:rappresentazione grafica e discussione 69
Array-CGH in 400 patients with idiopathic mental retardation 69
Su di un caso di cromosoma Y con satelliti (Yqs) associato a trisomia 21 69
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 68
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 68
Bone islands. 68
Duplication 9p due to unequal sister chromatid exchange 67
Reperti citogenetici in un caso di leucemia connatale indifferenziata 67
TRISOMY 8 MOSAICISM - CASE-REPORT 66
Twins with acardia and anencephaly 66
Opposite effects on facial morphology due to gene dosage sensitivity 66
Wolfram's syndrome and HLA 65
Il pediatra di famiglia e il bambino Down. Proposta di un protocollo di assistenza.1993 65
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. 65
Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome 64
Jacobsen syndrome 64
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 64
Mutation of FGFR3 in a patient with craniosynostosis, hypocondroplasia and growth hormone deficiency 63
Partial trisomy 12q: report of a case and review 63
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 63
Angelman syndrome and vermian cyst 63
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 63
Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion 62
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) 62
A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)] 62
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 62
Growth hormone, gender and face shape in prader-willi syndrome 61
RFLP analysis in 5 Sicilian families with the fragile X syndrome 61
Craniofacial characteristics of fragile X syndrome in mouse and man. 61
Phenotipic variability in the Nager syndrome. Report of 4 unrelated patients. A collaborative study 61
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 61
Antley-Bixler syndrome 61
Siindrome dii Gorlli in un paziente con mutazione del gene PTCH1 60
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 60
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 60
Sindrome polimalformativa associata a ipersensibilità a diversi agenti mutageni in un paziente figlio di consanguinei 59
Complex chromosome rearrangements. Report of three new cases 58
Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1 58
Non-contiguous 8p23 deletions in a case with del(8)(p23.1)/psu dic(8)(p23.2) mosaicism 58
La sindrome del cri du chat 57
Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients 57
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 57
Unstable translocations: a new case? 56
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 56
L'ospedale di giorno pediatrico. Consuntivo di un anno di attività. 55
Esposizione al benzene: confronto tra indici biochimici, SCE e tipizzazione genica 55
Bassa statura e deformità di Madelung (Leri-Weill Dyscondrosteosis) in una paziente con una nuova mutazione del gene SHOX: G>A nt503 (R168Q) 55
Due casi di sindrome da microdelezione 17q21.31 55
Un caso di disostosi acrodentale di Weyers con nuova mutazione del gene EVC2 55
Balanced complex rearrangements: how many are really balanced? 55
Mild cystic fibrosis in patients with the rare P5L CFTR mutation 54
Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion 54
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation 53
IGF-1R: it is involved in etiopathogenesis of human gonadal abnormalities? 52
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) 51
La Biologia clinica e Ambientale, fra routine e nuove frontiere Cariotipo e scambi fra cromatidi fratelli 51
Clinical and cytogentics assesment of patients with chromosome disorders 50
Evidenza di un fenotipo evolutivo nella delezione 2q37.3 50
Un caso di displasia di Kniest 49
High occurrence of Brachydactyly-Mental Retardation syndrome among mentally retarded subjects in Italy 49
Totale 7.487
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Categoria #
all - tutte 36.556
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 36.556
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021997 0 0 166 20 291 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
2025/2026616 295 216 105 0 0 0 0 0 0 0 0 0
Totale 10.071