IRIS
MATTINA, Teresa
 Distribuzione geografica
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Continente #
NA - Nord America 6.840
EU - Europa 3.840
AS - Asia 3.358
SA - Sud America 589
AF - Africa 293
Continente sconosciuto - Info sul continente non disponibili 225
OC - Oceania 6
Totale 15.151
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Nazione #
US - Stati Uniti d'America 6.539
SG - Singapore 1.693
IT - Italia 1.050
RU - Federazione Russa 858
CN - Cina 852
UA - Ucraina 631
IE - Irlanda 572
BR - Brasile 454
CA - Canada 233
VN - Vietnam 229
HK - Hong Kong 220
FR - Francia 204
DE - Germania 160
CI - Costa d'Avorio 127
SE - Svezia 114
NG - Nigeria 85
GB - Regno Unito 69
IN - India 67
KR - Corea 63
BD - Bangladesh 59
AR - Argentina 47
NL - Olanda 46
EC - Ecuador 32
IQ - Iraq 28
MX - Messico 26
TR - Turchia 22
ZA - Sudafrica 21
AT - Austria 19
VE - Venezuela 19
CH - Svizzera 18
PL - Polonia 16
UZ - Uzbekistan 16
IR - Iran 14
ES - Italia 13
FI - Finlandia 13
SN - Senegal 13
ID - Indonesia 12
JP - Giappone 12
CL - Cile 11
CO - Colombia 11
EG - Egitto 11
GR - Grecia 11
MA - Marocco 11
JM - Giamaica 10
PK - Pakistan 9
CR - Costa Rica 8
LB - Libano 8
SA - Arabia Saudita 8
HU - Ungheria 7
TN - Tunisia 7
LT - Lituania 6
PE - Perù 6
CZ - Repubblica Ceca 5
KE - Kenya 5
MY - Malesia 5
NP - Nepal 5
DZ - Algeria 4
EU - Europa 4
GT - Guatemala 4
JO - Giordania 4
MD - Moldavia 4
PH - Filippine 4
PY - Paraguay 4
RO - Romania 4
UY - Uruguay 4
AE - Emirati Arabi Uniti 3
AL - Albania 3
AU - Australia 3
BB - Barbados 3
BE - Belgio 3
ET - Etiopia 3
GE - Georgia 3
HN - Honduras 3
KZ - Kazakistan 3
PT - Portogallo 3
TT - Trinidad e Tobago 3
AM - Armenia 2
AO - Angola 2
AZ - Azerbaigian 2
BG - Bulgaria 2
BH - Bahrain 2
BJ - Benin 2
BN - Brunei Darussalam 2
DO - Repubblica Dominicana 2
IL - Israele 2
KW - Kuwait 2
LA - Repubblica Popolare Democratica del Laos 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
SM - San Marino 2
A1 - Anonimo 1
AG - Antigua e Barbuda 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
Totale 14.917
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Città #
Dallas 1.057
Singapore 926
Jacksonville 630
Dublin 567
Santa Clara 565
Chandler 561
San Jose 446
Chicago 322
Moscow 315
Ashburn 280
Boardman 256
Nanjing 208
Toronto 170
Cambridge 166
Lawrence 165
Andover 163
Catania 156
Lauterbourg 145
Abidjan 127
Houston 110
San Mateo 109
Beijing 92
Des Moines 86
Los Angeles 83
Ho Chi Minh City 81
Wilmington 75
Milan 69
Bremen 68
Nanchang 64
Seoul 63
Hefei 59
Hanoi 56
Rome 51
Hebei 50
Shenyang 47
Council Bluffs 46
New York 41
Abuja 39
Saint Petersburg 39
São Paulo 37
Civitanova Marche 34
Lagos 33
Buffalo 32
Changsha 31
Grafing 31
Tianjin 30
Jiaxing 28
Ottawa 25
Palermo 23
Seattle 21
The Dalles 21
Columbus 20
Munich 20
Orem 18
Rio de Janeiro 17
Brooklyn 16
Mumbai 16
Stockholm 16
Kochi 15
Montreal 15
Turin 15
Amsterdam 14
Denver 14
Johannesburg 14
Dakar 13
Guayaquil 13
Naples 13
Phoenix 13
Port Harcourt 13
Ardabil 12
Norwalk 12
Belo Horizonte 11
Dong Ket 11
Hangzhou 11
Hong Kong 11
Ningbo 11
Augusta 10
Baghdad 10
Bologna 10
Falls Church 10
Redondo Beach 10
Tokyo 10
Warsaw 10
Brasília 9
Charlotte 9
Civitavecchia 9
Da Nang 9
Dearborn 9
Guarulhos 9
Jinan 9
Leawood 9
London 9
Quito 9
San Francisco 9
Washington 9
Ann Arbor 8
Atlanta 8
Curitiba 8
Florence 8
Kunming 8
Totale 9.471
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Nome #
B-cell acute lymphoblastic leukemia and isochromosome 7q 296
RIARRANGIAMENTI DEL TIPO INV DUP DEL IN CINQUE DIVERSI CROMOSOMI AD ANELLO: UN NUOVO MECCANISMO PER LA STABILIZZAZIONE DI CROMOSOMI ROTTI. 272
PARALISI CEREBRALI INFANTILI E PARAPLEGIE SPASTICHE EREDITARIE 203
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 193
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 190
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes 185
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 185
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 178
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 164
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome 162
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 158
Correlazione genotipo/fenotipo nella Sclerosi Tuberosa (TSC1 vs. TSC2) in 81 pazienti siciliani 153
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 146
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 142
Familial 18q12.2 deletion supports the role of RNA-bindingprotein CELF4 in autism spectrum disorders 140
A new cause of ambiguous genitalia: multiple malformation syndrome related to unbalanced translocation 46,XY t(7;16) 138
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 135
Chromosome 15 structural abnormalities: effect on the IGF1R gene expression and function 135
Analisi cromosomica 131
Altered replication timing in the 22q11.2 band of the non-deleted DiGeorge and Velocardiofacial sindrome patients 131
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome 128
Anorectal malformation associated with spinal dysraphism: clinical and genetic evaluation 127
Prophylaxis with the novel immunomodulator pidotimod reduces the frequency and severity of upper respiratory tract infections in children with Down's syndrome 125
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 120
La sindrome di Down 119
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 119
Anomalie delle pigmentazione cutanea nelle sindromi cromosomiche 115
Bone islands. 115
Analisi per array-CGH di 14 casi di riarrangiamenti del cromosoma 13: correlazioni genotipo/fenotipo 114
A prospective study of 18 infants of chronic HBsAg mothers 114
La sindrome di Williams. Caso clinico 113
Mosaicismo diploide tetraploide: Caso clinico 112
A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)] 110
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation 108
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 105
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 105
Trisomia 9 completa, in un soggetto portatore di una rara variante del cromosoma 9 101
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 101
Micromegakarycytes in a patient with partial deletion of the long arm of chromosome 11 del (ll)(q24.2qter)] and chronic thrombocytopenic purpura 99
Narrowing the deleted region associated with the 15q21 syndrome 98
Reperti citogenetici in un caso di leucemia connatale indifferenziata 98
Angelman syndrome and vermian cyst 98
Antley-Bixler syndrome 98
Jacobsen syndrome 97
Trisomia 8 a mosaico. Descrizione di un caso. 97
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 97
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 96
Twins with acardia and anencephaly 95
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 95
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 95
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] 94
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 93
Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome 93
Array-CGH in 400 patients with idiopathic mental retardation 93
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 93
Profilo metacarpofalangeo in una paziente con mos46,XX, del8p23.2/46,XX, iso8qter->p23.1::p23.1->qter:rappresentazione grafica e discussione 91
Un caso di sindrome di Satoyoshi 91
Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1 91
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 91
Mutation of FGFR3 in a patient with craniosynostosis, hypocondroplasia and growth hormone deficiency 90
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 90
Maternal transmission of HBV infection 89
Growth hormone, gender and face shape in prader-willi syndrome 89
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 89
Siindrome dii Gorlli in un paziente con mutazione del gene PTCH1 88
Il pediatra di famiglia e il bambino Down. Proposta di un protocollo di assistenza.1993 87
Craniofacial characteristics of fragile X syndrome in mouse and man 87
Clinical and cytogentics assesment of patients with chromosome disorders 87
TRISOMY 8 MOSAICISM - CASE-REPORT 86
Partial trisomy 12q: report of a case and review 86
Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients 86
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) 85
RFLP analysis in 5 Sicilian families with the fragile X syndrome 85
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. 85
Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion 84
Duplication 9p due to unequal sister chromatid exchange 84
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 84
Bassa statura e deformità di Madelung (Leri-Weill Dyscondrosteosis) in una paziente con una nuova mutazione del gene SHOX: G>A nt503 (R168Q) 84
Sindrome polimalformativa associata a ipersensibilità a diversi agenti mutageni in un paziente figlio di consanguinei 84
Un caso di displasia di Kniest 84
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 84
Wolfram's syndrome and HLA 83
Cri du Chat Syndrome [La sindrome del cri du chat] 83
Chromosome fragility in glutathione synthetase deficiency 83
Mild cystic fibrosis in patients with the rare P5L CFTR mutation 82
Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion 82
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation 82
Non-contiguous 8p23 deletions in a case with del(8)(p23.1)/psu dic(8)(p23.2) mosaicism 82
Opposite effects on facial morphology due to gene dosage sensitivity 81
Complex chromosome rearrangements. Report of three new cases 81
Paraplegie spastiche ereditarie 81
Balanced complex rearrangements: how many are really balanced? 81
High occurrence of Brachydactyly-Mental Retardation syndrome among mentally retarded subjects in Italy 81
Double partial trisomy 9q34.1->qter and 21 pter->q22.11:FISH and clinical findings 80
Phenotipic variability in the Nager syndrome. Report of 4 unrelated patients. A collaborative study 80
CLINICAL AND CYTOGENETICS ASSESSMENT OF PATIENTS WITH CHROMOSOME DISORDERS 80
L'ospedale di giorno pediatrico. Consuntivo di un anno di attività [The pediatric day-hospital. Report of the first year's activity] 79
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) 79
SPECIFIC CHANGES IN GENE EXPRESSION IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME 79
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 79
Totale 10.916
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Categoria #
all - tutte 50.516
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 50.516
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.086 0 172 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
2025/20265.419 295 215 1.091 360 827 901 747 136 273 322 123 129
2026/2027311 243 68 0 0 0 0 0 0 0 0 0 0
Totale 15.151