IRIS
FRANCO, BRUNELLA
 Distribuzione geografica
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Continente #
NA - Nord America 2.565
EU - Europa 1.960
AS - Asia 489
AF - Africa 15
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 2
Totale 5.040
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Nazione #
US - Stati Uniti d'America 2.499
IT - Italia 642
UA - Ucraina 450
CN - Cina 449
FI - Finlandia 237
DE - Germania 193
SE - Svezia 113
IE - Irlanda 112
NL - Olanda 110
GB - Regno Unito 78
CA - Canada 66
CI - Costa d'Avorio 13
VN - Vietnam 12
FR - Francia 11
SG - Singapore 11
IN - India 6
BE - Belgio 5
CH - Svizzera 4
EU - Europa 4
KR - Corea 3
PK - Pakistan 3
BR - Brasile 2
HK - Hong Kong 2
IL - Israele 2
AL - Albania 1
AR - Argentina 1
AT - Austria 1
AU - Australia 1
BO - Bolivia 1
EC - Ecuador 1
EG - Egitto 1
ES - Italia 1
LI - Liechtenstein 1
NZ - Nuova Zelanda 1
PL - Polonia 1
SN - Senegal 1
TR - Turchia 1
Totale 5.040
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Città #
Jacksonville 499
Chandler 406
Princeton 239
Nanjing 171
Millbury 165
Boston 114
Ashburn 108
Wilmington 104
Amsterdam 96
Naples 67
Ottawa 63
Napoli 60
Beijing 48
Des Moines 48
Nanchang 45
Cagliari 42
Jiaxing 35
Hebei 32
Norwalk 31
Shenyang 28
Lawrence 26
Changsha 24
Grumo Nevano 23
Tianjin 22
Houston 19
Milan 18
Rome 18
Kronberg 17
Kunming 16
Washington 13
Dong Ket 12
Falls Church 12
Boardman 9
Dublin 9
Redwood City 8
Fairfield 7
Palermo 6
Pavia 6
Seattle 6
Changchun 5
Como 5
Orange 5
Pozzuoli 5
Woodbridge 5
Wuhan 5
Benevento 4
Enna 4
Hanover 4
Padova 4
Redmond 4
Shanghai 4
Trento 4
Waanrode 4
Zurich 4
Bari 3
Bologna 3
Dresden 3
Formia 3
Guangzhou 3
Gurgaon 3
Indiana 3
Lahore 3
Lucca 3
Mountain View 3
Pisticci 3
Shenzhen 3
Turin 3
Varazze 3
Acerra 2
Afragola 2
Ann Arbor 2
Boscoreale 2
Cambridge 2
Carife 2
Faenza 2
Hong Kong 2
Lanzhou 2
Lappeenranta 2
Lusciano 2
Marcignago 2
Parma 2
Pellezzano 2
Poli 2
Portici 2
Pune 2
San Francisco 2
San Giorgio Del Sannio 2
Savigliano 2
Scafati 2
Singapore 2
Tel Aviv 2
Torino 2
Venice 2
Albano Sant'Alessandro 1
Amgaon 1
Andover 1
Angri 1
Beaufays 1
Bergamo 1
Bolzano 1
Totale 2.837
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Nome #
Il ciglio primario e le malattie genetiche da disfunzione ciliare 128
The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets. 60
Integrated genomics identifies MiR-181/TFAM pathway as a critical driver of drug resistance in melanoma 54
Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. 53
Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis 48
Pemiganitib. Fibroblast growth factor receptor inhibitor, Treatment of cholangiocarcinoma. 46
Ofd1 controls dorso-ventral patterning in the brain and plays a developmental stage dependent role in ciliogenesis. 45
Study of the role of the Ofd1 protein in the hippocampus 45
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22 42
Oral-Facial-Digital Type I Syndrome 41
Role of uL3 in the crosstalk between nucleolar stress and autophagy in colon cancer cells 41
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery 40
A new candidate region for the positional cloning of the XLP gene 39
A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells 39
Generation and Characterization of a Tumor Stromal Microenvironment and Analysis of Its Interplay with Breast Cancer Cells: An In Vitro Model to Study Breast Cancer-Associated Fibroblast Inactivation 39
The deubiquitinating enzyme USP14 controls ciliogenesis and hedgehog signalling 37
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells 35
“A gene from the critical region for X-linked juvanile retinoschisis on Xp22.3 is homologous to the drosophila retinal degeneration C(rdgc) gene”. 35
Cerebral dysgenesis does not exclude OFD I syndrome. 35
miR-181a/b downregulation exerts a protective action on mitochondrial disease models 35
Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease 34
The Oral-Facial-Digital Type I protein is required for primary cilia formation and for left-right axis specification. 34
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-liked nonspecific mental retardation. 34
A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin 34
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 34
Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics 33
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin-remodeling complex 33
Novel functional features of the LIS-H domain: role in protein dimerization, half-life and cellular localization 33
The pervasive role of the MiR-181 family in development, neurodegeneration, and cancer 33
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy 33
A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells. 32
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 32
Basal body proteins regulate broad paracrine signaling by context-specific proteasomal degradation of signaling mediators. 32
A novel human serine-threonine phosphatase related to the Drosophila retinal degeration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. 31
“An international collaborative effort on the mutation analysis of the XLRS1 gene in 238 cases of X-linked retinoschisis”. 31
X-inactivation and human disease: X-linked dominant male-lethal disorders. 30
Oral -facial-digital syndromes: a review and diagnostic guidelines 30
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. 30
A new gene on Xp22.3 escapes X-inactivation. 30
“A cluster of Sulfatase genes on Xp22.3: Mutations in Chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy”. 30
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 30
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation 29
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 29
CDKL5/Stk9 Kinase Inactivation is Associated with Neuronal Developmental Disorders 28
Kidney-specific inactivation of Ofd1 leads to relal cystic disease associated with upregulation of the mTOR pathway. 28
Histone Deacetylase SIRT1 promotes loss of primary cilia in Cholangiocarcinoma 28
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 28
La microftalmia con lesioni cutanee lineari (MLS): approcci diversificati per l'identificazione delle basi molecolari della patologia. 27
“Le Basi Molecolari della sindrome Oro-Facio-Digitale di tipo 1”. 27
Ofd1 is Required in Limb Bud Patterning and Endochondral Bone Development 27
Xp contiguous gene syndromes: from clinical observation to disease gene identification 26
“ An eXceptional chromosome” 26
High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). 25
The aberrant host response to EBV infection in X-linked Lymphoproliferative disease results from mutations in a novel SH2-domain encoding gene 25
“Strategie per l'identificazione di geni: lo stato dell'arte” 25
Are primary cilia involved in Embryonic Stem Cells differentiation and/or the maintenance of the undifferentiated state? 25
La sindrome Oro-facio-digitale come sistema modello per studiare i diversi aspetti patologici delle ciliopatie. 25
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models 25
New therapeutic strategies for drug-resistant melanoma 24
“Malattie ereditarie con rene policistico: l'esempio della sindrome oro-facio-digitale di tipo I.” 24
The role of OFD1 in renal cystic disease. 24
The role of the centrosomal/basal body protein Ofd1 in the postnatal liver. 24
Child development in Neapolitan Public Day Care Centres 24
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia 24
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP diacylglycerol synthase gene. 23
A medaka model to study the molecular basis of Microphhalmia with linear skin defects (MLS) syndrome. 23
Unraveling the role of the OFD1 protein in protein synthesis and mTOR pathway activation. 23
Microphthalmia with linear skin lesions (MLS) syndrome, an unconventional mitochondrial disorder 23
New insights into the centrosome-associated spliceosome components as regulators of ciliogenesis and tissue identity 22
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region. 22
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. 22
“Le malattie da disfunzione del ciglio primario:l'esempio della sindrome Oro-facio-digitale di tipo I”. 22
Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development. 22
Expansion of the phenotype of lateral meningocele syndrome 22
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 21
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. 21
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. 21
Identification and characterization of AFG3L2, a novel paraplegin-related gene. 21
Identification of the Gene for Oral-Facial-Digital Type I Syndrome 21
Mutations of the Mitochondrial Holocytochrome c-Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome. 21
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for MRX locus. 21
Identification and expression studies of two mammalian homologs of the Drosophila CDP diacylglycerol synthase (CDS) gene: implications for the evolution of phototransduction mechanisms 21
Chromosome X 21
“A complete collection of X chromosome genes: an important tool for systematic expression studies and disease gene identification”. 21
Anomalie di sviluppo del sistema nervoso centrale nella sindrome orofaciodigitale tipo I (OFD1) e loro correlazione con il tipo di mutazione causativa 21
The Oral-facial-digital type I syndrome as a model system to study ciliary function. 21
Development of left and right: the example of Oral-Facial-Digital Syndrome. 21
Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo 21
Identification and characterization of a novel member of the dystrobrevin gene family. 20
Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. 20
Xp contigous gene syndromes: fom clinical observation to disease gene identification. 20
Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. 20
Identification and characterization of a highly conserved protein absent in the Alport (A), Mental retardation (M), Midface hypoplasia (M) and Elliptocytosis (E) contiguous gene deletion syndrome 20
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum 20
The Ofd1 transcript is involved in Antero-Posterior Patterning and Primary Cilia formation during Limb Morphogenesis. 20
L’inattivazione del cromosoma X nella variabilità fenotipica osservata nelle malattie dominanti legate al cromosoma X. 20
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) 20
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 20
Update on oral-facial-digital syndromes (OFDS) 20
The Molecular basis of Oral-facial-digital type 1 (OFD1) syndrome. 19
Totale 2.964
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Categoria #
all - tutte 22.221
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 22.221
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201919 0 0 0 0 0 0 0 0 0 3 3 13
2019/2020798 290 0 89 5 82 1 4 11 22 38 73 183
2020/2021999 16 86 117 104 105 183 91 16 124 25 106 26
2021/20221.021 19 5 15 56 12 27 17 36 126 126 132 450
2022/20231.125 273 62 19 86 141 116 8 84 157 103 53 23
2023/2024523 36 109 87 52 40 54 27 86 19 13 0 0
Totale 5.314