IRIS
MATTINA, Teresa
 Distribuzione geografica
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Continente #
NA - Nord America 2717
EU - Europa 2304
AS - Asia 811
AF - Africa 11
Continente sconosciuto - Info sul continente non disponibili 5
SA - Sud America 5
OC - Oceania 1
Totale 5854
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Nazione #
US - Stati Uniti d'America 2534
IE - Irlanda 645
UA - Ucraina 630
CN - Cina 552
IT - Italia 535
HK - Hong Kong 207
CA - Canada 183
RU - Federazione Russa 154
DE - Germania 122
SE - Svezia 77
FR - Francia 41
GB - Regno Unito 27
CH - Svizzera 15
AT - Austria 14
IR - Iran 13
VN - Vietnam 13
GR - Grecia 12
SN - Senegal 11
UZ - Uzbekistan 7
HU - Ungheria 6
IN - India 6
NL - Olanda 6
PL - Polonia 6
LB - Libano 5
EU - Europa 4
BR - Brasile 3
CZ - Repubblica Ceca 3
FI - Finlandia 3
AR - Argentina 2
BG - Bulgaria 2
MD - Moldavia 2
SM - San Marino 2
TR - Turchia 2
A1 - ???statistics.table.value.countryCode.A1??? 1
AU - Australia 1
CY - Cipro 1
IQ - Iraq 1
JP - Giappone 1
KH - Cambogia 1
MT - Malta 1
PK - Pakistan 1
SG - Singapore 1
SI - Slovenia 1
Totale 5854
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Città #
Dublin 642
Jacksonville 634
Chandler 561
Nanjing 209
Cambridge 167
Lawrence 167
Andover 165
Toronto 157
San Mateo 110
Houston 103
Des Moines 86
Catania 78
Wilmington 75
Bremen 68
Nanchang 64
Hebei 51
Boardman 48
Shenyang 47
Saint Petersburg 39
Grafing 32
Changsha 31
Tianjin 30
Jiaxing 28
Ottawa 25
Rome 25
Beijing 18
Milan 14
Ardabil 12
Moscow 12
Norwalk 12
Dakar 11
Dong Ket 11
Hangzhou 11
Ningbo 11
Falls Church 10
Civitavecchia 9
Dearborn 9
Leawood 9
Ann Arbor 8
Jinan 8
Kunming 8
Liberty Lake 8
Napoli 8
Zhengzhou 8
Augusta 7
Bologna 7
Gela 7
Palermo 7
Budapest 6
Frankfurt Am Main 6
Rovigo 6
Livorno 5
Ludwigshafen 5
Taizhou 5
Turin 5
Ashburn 4
Changchun 4
Den Haag 4
Lanzhou 4
Modica 4
Redwood City 4
Siracusa 4
Trapani 4
Vercelli 4
Carlentini 3
Fiumefreddo Di Sicilia 3
Foggia 3
Hanover 3
Helsinki 3
Jesi 3
Valmadrera 3
Zafferana Etnea 3
Aci Catena 2
Amsterdam 2
Buenos Aires 2
Castronno 2
Chisinau 2
Eboli 2
Enna 2
Giarre 2
Gravina di Catania 2
Hanoi 2
Kiev 2
Las Vegas 2
London 2
Los Angeles 2
Lucca 2
Modena 2
Mumbai 2
Padova 2
Portici 2
Ripe San Ginesio 2
Stockholm 2
Varese 2
Agrate Conturbia 1
Agropoli 1
Asiago 1
Baranzate 1
Bari 1
Barzanò 1
Totale 4015
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Nome #
B-cell acute lymphoblastic leukemia and isochromosome 7q 240
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 129
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 109
PARALISI CEREBRALI INFANTILI E PARAPLEGIE SPASTICHE EREDITARIE 100
RIARRANGIAMENTI DEL TIPO INV DUP DEL IN CINQUE DIVERSI CROMOSOMI AD ANELLO: UN NUOVO MECCANISMO PER LA STABILIZZAZIONE DI CROMOSOMI ROTTI. 96
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 77
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 73
Correlazione genotipo/fenotipo nella Sclerosi Tuberosa (TSC1 vs. TSC2) in 81 pazienti siciliani 62
Mosaicismo diploide tetraploide: Caso clinico 60
Trisomia 9 completa, in un soggetto portatore di una rara variante del cromosoma 9 58
Familial 18q12.2 deletion supports the role of RNA-bindingprotein CELF4 in autism spectrum disorders 56
La sindrome di Williams. Caso clinico 53
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation 53
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 53
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 51
Un caso di sindrome di Satoyoshi 51
Array-CGH in 400 patients with idiopathic mental retardation 50
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 50
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome 49
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 49
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 49
Su di un caso di cromosoma Y con satelliti (Yqs) associato a trisomia 21 48
Duplication 9p due to unequal sister chromatid exchange 47
Narrowing the deleted region associated with the 15q21 syndrome 46
Chromosome 15 structural abnormalities: effect on the IGF1R gene expression and function 46
A prospective study of 18 infants of chronic HBsAg mothers 46
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) 45
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome 45
Opposite effects on facial morphology due to gene dosage sensitivity. 45
Jacobsen syndrome 44
Safety and effectiveness of an acellular pertussis vaccine in subjects with Down's syndrome 43
Maternal transmission of HBV infection 43
Prophylaxis with the novel immunomodulator pidotimod reduces the frequency and severity of upper respiratory tract infections in children with Down's syndrome 43
Twins with acardia and anencephaly 43
Phenotipic variability in the Nager syndrome. Report of 4 unrelated patients. A collaborative study 43
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 43
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 42
Sindrome polimalformativa associata a ipersensibilità a diversi agenti mutageni in un paziente figlio di consanguinei 42
Trisomia 8 a mosaico. Descrizione di un caso. 42
Profilo metacarpofalangeo in una paziente con mos46,XX, del8p23.2/46,XX, iso8qter->p23.1::p23.1->qter:rappresentazione grafica e discussione 41
13Q DELETION AND CNS ANOMALIES: FURTHER INSIGHTS FROM KARYOTYPE-PHENOTYPE ANALYSES OF 14 PATIENTS 41
2. Micromegakarycytes in a patient with partial deletion of the long arm of chromosome 11 del (ll)(q24.2qter)] and chronic thrombocytopenic purpura 41
Craniofacial characteristics of fragile X syndrome in mouse and man. 41
Partial trisomy 12q: report of a case and review 41
Complex chromosome rearrangements. Report of three new cases 41
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 41
Reperti citogenetici in un caso di leucemia connatale indifferenziata 40
Altered replication timing in the 22q11.2 band of the non-deleted DiGeorge and Velocardiofacial sindrome patients 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
TRISOMY 8 MOSAICISM - CASE-REPORT 39
RFLP analysis in 5 Sicilian families with the fragile X syndrome 39
Analisi cromosomica 39
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 39
Mutation of FGFR3 in a patient with craniosynostosis, hypocondroplasia and growth hormone deficiency 38
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 38
Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion 37
Growth hormone, gender and face shape in prader-willi syndrome. 37
A new cause of ambiguous genitalia: multiple malformation syndrome related to unbalanced translocation 46,XY t(7;16) 37
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes 37
L'ospedale di giorno pediatrico. Consuntivo di un anno di attività. 36
Anorectal malformation associated with spinal dysraphism: clinical and genetic evaluation 36
Siindrome dii Gorlli in un paziente con mutazione del gene PTCH1 36
A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)] 36
Il pediatra di famiglia e il bambino Down. Proposta di un protocollo di assistenza.1993 35
La sindrome del cri du chat 35
Esposizione al benzene: confronto tra indici biochimici, SCE e tipizzazione genica. 35
Anomalie delle pigmentazione cutanea nelle sindromi cromosomiche 35
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 35
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 35
Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients 34
Antley-Bixler syndrome 34
MULTIPLE MALFORMATIONS IN A PATIENT WITH UNBALANCED TRANSLOCATION 46,XY T(7;16) AND AMBIGUOUS GENITALIA 33
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) 33
Chromosome fragility in glutathione synthetase deficiency 33
Clinical and cytogentics assesment of patients with chromosome disorders 33
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 33
Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion 33
CLINICAL AND CYTOGENETICS ASSESSMENT OF PATIENTS WITH CHROMOSOME DISORDERS 32
Il genetista, il suo contributo, le sue scelte. 32
Evidenza di un fenotipo evolutivo nella delezione 2q37.3 32
Un caso di displasia di Kniest 32
La Biologia clinica e Ambientale, fra routine e nuove frontiere Cariotipo e scambi fra cromatidi fratelli 32
Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion 32
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 32
Bone islands. 32
Unstable translocations: a new case? 31
Analisi per array-CGH di 14 casi di riarrangiamenti del cromosoma 13: correlazioni genotipo/fenotipo 31
IGF-1R: it is involved in etiopathogenesis of human gonadal abnormalities? 31
Due casi di sindrome da microdelezione 17q21.31 31
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 31
Nuovi orizzonti della vecchia genetica. 30
Paraplegie spastiche ereditarie 30
Dysmorphic features in 37 patients with the Jacobsen Syndrome 30
Sindrome malformativa con aspetti della sindrome di Grieg e della sindrome di Pallister-Hall in una paziente con delezione interstiziale del braccio corto del cromosoma 7 30
Un caso di disostosi acrodentale di Weyers con nuova mutazione del gene EVC2 30
The fragile X in Sicily: an epidemiological survey 30
Triple-X constitution in a child with multiple congenital anomalies 29
Mild cystic fibrosis in patients with the rare P5L CFTR mutation 29
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture 29
Totale 4488
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Categoria #
all - tutte 10422
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 10422
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201822 0000 00 00 4369
2018/2019333 120511 53171 153 52848
2019/20201108 401629917 10719 967 1111313343
2020/20211135 2211216720 29325 1198 1291617054
2021/20221258 1611741824 1888 17747 1421637266
2022/20232033 1765419203 203335 8541 494000
Totale 6069