IRIS
MATTINA, Teresa
 Distribuzione geografica
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Continente #
NA - Nord America 3.039
EU - Europa 2.378
AS - Asia 847
AF - Africa 87
SA - Sud America 6
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 5
Totale 6.367
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Nazione #
US - Stati Uniti d'America 2.854
IT - Italia 663
UA - Ucraina 630
IE - Irlanda 575
CN - Cina 571
HK - Hong Kong 209
CA - Canada 183
RU - Federazione Russa 154
DE - Germania 123
SE - Svezia 78
CI - Costa d'Avorio 74
FR - Francia 41
GB - Regno Unito 34
CH - Svizzera 15
AT - Austria 14
IN - India 14
IR - Iran 13
VN - Vietnam 13
GR - Grecia 12
SN - Senegal 11
SG - Singapore 8
HU - Ungheria 7
UZ - Uzbekistan 7
NL - Olanda 6
PL - Polonia 6
LB - Libano 5
BR - Brasile 4
EU - Europa 4
AU - Australia 3
CZ - Repubblica Ceca 3
FI - Finlandia 3
MD - Moldavia 3
AR - Argentina 2
BG - Bulgaria 2
ES - Italia 2
MX - Messico 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
SM - San Marino 2
TR - Turchia 2
A1 - Anonimo 1
BE - Belgio 1
CY - Cipro 1
IQ - Iraq 1
IS - Islanda 1
JP - Giappone 1
KH - Cambogia 1
MC - Monaco 1
MT - Malta 1
PK - Pakistan 1
SI - Slovenia 1
Totale 6.367
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Città #
Jacksonville 634
Dublin 570
Chandler 561
Nanjing 209
Cambridge 167
Lawrence 167
Andover 165
Toronto 157
San Mateo 110
Houston 103
Boardman 87
Catania 87
Des Moines 86
Wilmington 75
Abidjan 74
Ashburn 70
Bremen 68
Nanchang 64
Hebei 51
Shenyang 47
Saint Petersburg 39
Grafing 32
Changsha 31
Tianjin 30
Jiaxing 28
Rome 28
Ottawa 25
Milan 24
Beijing 18
Palermo 17
Seattle 13
Ardabil 12
Moscow 12
Norwalk 12
Dakar 11
Dong Ket 11
Hangzhou 11
Los Angeles 11
Ningbo 11
Falls Church 10
Civitavecchia 9
Dearborn 9
Leawood 9
Ann Arbor 8
Jinan 8
Kunming 8
Liberty Lake 8
Napoli 8
Pune 8
Washington 8
Zhengzhou 8
Augusta 7
Bologna 7
Budapest 7
Gela 7
Turin 7
Edinburgh 6
Frankfurt Am Main 6
Livorno 6
Palagonia 6
Rovigo 6
Alcamo 5
Bari 5
Lucca 5
Ludwigshafen 5
Naples 5
Taizhou 5
Brescia 4
Changchun 4
Den Haag 4
Lanzhou 4
Modica 4
Padova 4
Redwood City 4
Siracusa 4
Trapani 4
Vercelli 4
Carlentini 3
Chisinau 3
Fiumefreddo Di Sicilia 3
Florence 3
Foggia 3
Hanover 3
Helsinki 3
Jesi 3
Lecce 3
L’Aquila 3
Sant'Antimo 3
Sassari 3
Scandicci 3
Stockholm 3
Tappahannock 3
Valmadrera 3
Zafferana Etnea 3
Abuja 2
Aci Catena 2
Amsterdam 2
Avellino 2
Besana in Brianza 2
Buenos Aires 2
Totale 4.227
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Nome #
B-cell acute lymphoblastic leukemia and isochromosome 7q 244
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 135
RIARRANGIAMENTI DEL TIPO INV DUP DEL IN CINQUE DIVERSI CROMOSOMI AD ANELLO: UN NUOVO MECCANISMO PER LA STABILIZZAZIONE DI CROMOSOMI ROTTI. 119
PARALISI CEREBRALI INFANTILI E PARAPLEGIE SPASTICHE EREDITARIE 117
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 114
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 91
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 77
Mosaicismo diploide tetraploide: Caso clinico 71
Correlazione genotipo/fenotipo nella Sclerosi Tuberosa (TSC1 vs. TSC2) in 81 pazienti siciliani 71
La sindrome di Williams. Caso clinico 66
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 60
Trisomia 9 completa, in un soggetto portatore di una rara variante del cromosoma 9 59
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome 59
Familial 18q12.2 deletion supports the role of RNA-bindingprotein CELF4 in autism spectrum disorders 59
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 58
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 57
Trisomia 8 a mosaico. Descrizione di un caso. 56
Chromosome 15 structural abnormalities: effect on the IGF1R gene expression and function 56
Un caso di sindrome di Satoyoshi 55
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 54
Array-CGH in 400 patients with idiopathic mental retardation 53
Su di un caso di cromosoma Y con satelliti (Yqs) associato a trisomia 21 53
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation 53
Narrowing the deleted region associated with the 15q21 syndrome 51
A prospective study of 18 infants of chronic HBsAg mothers 51
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 51
Prophylaxis with the novel immunomodulator pidotimod reduces the frequency and severity of upper respiratory tract infections in children with Down's syndrome 50
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome 50
Analisi cromosomica 50
Duplication 9p due to unequal sister chromatid exchange 49
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes 48
Opposite effects on facial morphology due to gene dosage sensitivity. 47
Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome 46
Maternal transmission of HBV infection 46
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) 46
2. Micromegakarycytes in a patient with partial deletion of the long arm of chromosome 11 del (ll)(q24.2qter)] and chronic thrombocytopenic purpura 46
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 46
Jacobsen syndrome 45
Phenotipic variability in the Nager syndrome. Report of 4 unrelated patients. A collaborative study 45
Altered replication timing in the 22q11.2 band of the non-deleted DiGeorge and Velocardiofacial sindrome patients 45
Profilo metacarpofalangeo in una paziente con mos46,XX, del8p23.2/46,XX, iso8qter->p23.1::p23.1->qter:rappresentazione grafica e discussione 44
13Q DELETION AND CNS ANOMALIES: FURTHER INSIGHTS FROM KARYOTYPE-PHENOTYPE ANALYSES OF 14 PATIENTS 44
Twins with acardia and anencephaly 44
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet. 2010 19(4):648-56. Epub 2009 Nov 26 44
Partial trisomy 12q: report of a case and review 44
A new cause of ambiguous genitalia: multiple malformation syndrome related to unbalanced translocation 46,XY t(7;16) 44
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 44
Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion 43
Reperti citogenetici in un caso di leucemia connatale indifferenziata 43
Complex chromosome rearrangements. Report of three new cases 43
Sindrome polimalformativa associata a ipersensibilità a diversi agenti mutageni in un paziente figlio di consanguinei 43
Craniofacial characteristics of fragile X syndrome in mouse and man. 42
Anorectal malformation associated with spinal dysraphism: clinical and genetic evaluation 42
TRISOMY 8 MOSAICISM - CASE-REPORT 41
Mutation of FGFR3 in a patient with craniosynostosis, hypocondroplasia and growth hormone deficiency 41
Growth hormone, gender and face shape in prader-willi syndrome. 41
Analisi per array-CGH di 14 casi di riarrangiamenti del cromosoma 13: correlazioni genotipo/fenotipo 41
Siindrome dii Gorlli in un paziente con mutazione del gene PTCH1 41
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 41
RFLP analysis in 5 Sicilian families with the fragile X syndrome 40
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 40
Non-contiguous 8p23 deletions in a case with del(8)(p23.1)/psu dic(8)(p23.2) mosaicism 40
Wolfram's syndrome and HLA 39
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 39
A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)] 39
Anomalie delle pigmentazione cutanea nelle sindromi cromosomiche 38
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 38
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 38
L'ospedale di giorno pediatrico. Consuntivo di un anno di attività. 37
Esposizione al benzene: confronto tra indici biochimici, SCE e tipizzazione genica. 37
Bassa statura e deformità di Madelung (Leri-Weill Dyscondrosteosis) in una paziente con una nuova mutazione del gene SHOX: G>A nt503 (R168Q) 37
Il pediatra di famiglia e il bambino Down. Proposta di un protocollo di assistenza.1993 36
IGF-1R: it is involved in etiopathogenesis of human gonadal abnormalities? 36
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 36
Antley-Bixler syndrome 36
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 36
Mild cystic fibrosis in patients with the rare P5L CFTR mutation 35
La sindrome del cri du chat 35
Due casi di sindrome da microdelezione 17q21.31 35
La Biologia clinica e Ambientale, fra routine e nuove frontiere Cariotipo e scambi fra cromatidi fratelli 35
Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion 35
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) 34
Chromosome fragility in glutathione synthetase deficiency 34
Clinical and cytogentics assesment of patients with chromosome disorders 34
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 34
Un caso di displasia di Kniest 34
Un caso di disostosi acrodentale di Weyers con nuova mutazione del gene EVC2 34
Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion 34
Bone islands. 34
Unstable translocations: a new case? 33
Multiple malformations in a patient with unbalanced translocation 46,XY T(7;16) and ambiguous genitalia 33
Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients 33
Il genetista, il suo contributo, le sue scelte. 33
Evidenza di un fenotipo evolutivo nella delezione 2q37.3 33
Angelman syndrome and vermian cyst 33
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 33
CLINICAL AND CYTOGENETICS ASSESSMENT OF PATIENTS WITH CHROMOSOME DISORDERS 32
Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1 32
Mulibrey nanism. Clinical and molecular aspects 32
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 32
Totale 4.907
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Categoria #
all - tutte 19.109
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 19.109
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201958 0 0 0 0 0 0 0 0 0 2 8 48
2019/20201.108 401 62 99 17 107 19 96 7 111 13 133 43
2020/20211.135 22 112 167 20 293 25 119 8 129 16 170 54
2021/20221.258 161 174 18 24 188 8 177 47 142 16 37 266
2022/20232.091 176 54 19 203 203 335 8 510 453 40 65 25
2023/2024455 49 69 35 62 36 92 6 54 8 44 0 0
Totale 6.582