IRIS
FRANCO, BRUNELLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.339
EU - Europa 2.287
AS - Asia 1.709
AF - Africa 19
SA - Sud America 13
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 4
Totale 7.375
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Nazione #
US - Stati Uniti d'America 3.265
SG - Singapore 861
IT - Italia 800
CN - Cina 487
UA - Ucraina 451
HK - Hong Kong 332
FI - Finlandia 253
DE - Germania 212
NL - Olanda 119
SE - Svezia 113
IE - Irlanda 112
RU - Federazione Russa 107
GB - Regno Unito 78
CA - Canada 71
FR - Francia 15
CI - Costa d'Avorio 13
VN - Vietnam 13
BR - Brasile 10
BE - Belgio 8
IN - India 6
AT - Austria 5
CH - Svizzera 4
EU - Europa 4
AU - Australia 3
ES - Italia 3
KR - Corea 3
MX - Messico 3
PK - Pakistan 3
GR - Grecia 2
IL - Israele 2
MA - Marocco 2
AL - Albania 1
AR - Argentina 1
BO - Bolivia 1
EC - Ecuador 1
EG - Egitto 1
LI - Liechtenstein 1
LT - Lituania 1
LV - Lettonia 1
NZ - Nuova Zelanda 1
PL - Polonia 1
SN - Senegal 1
TD - Ciad 1
TN - Tunisia 1
TR - Turchia 1
UZ - Uzbekistan 1
Totale 7.375
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Città #
Singapore 691
Jacksonville 499
Chandler 413
Hong Kong 324
Santa Clara 295
Princeton 239
Nanjing 171
Millbury 165
Ashburn 131
Boston 114
Naples 109
Wilmington 106
Amsterdam 99
Ottawa 65
Napoli 62
Beijing 48
Des Moines 48
Nanchang 45
Cagliari 42
Rome 37
Jiaxing 35
Hebei 32
Norwalk 31
Moscow 29
Shenyang 28
Lawrence 27
Changsha 25
Seattle 25
Grumo Nevano 23
Tianjin 22
Milan 21
Houston 19
Kronberg 17
Kunming 16
Lappeenranta 13
Washington 13
Dong Ket 12
Falls Church 12
Guangzhou 12
Boardman 9
Dublin 9
Nuremberg 8
Redwood City 8
Fairfield 7
Pozzuoli 7
Shanghai 7
Curinga 6
Formia 6
Helsinki 6
Palermo 6
Pavia 6
Springfield 6
Acerra 5
Changchun 5
Como 5
Los Angeles 5
Orange 5
Orta di Atella 5
Padova 5
Turin 5
Woodbridge 5
Wuhan 5
Benevento 4
Casoria 4
Enna 4
Hanover 4
Munich 4
Prineville 4
Redmond 4
Trento 4
Waanrode 4
Zurich 4
Afragola 3
Bari 3
Berlin 3
Bologna 3
Brussels 3
Dresden 3
Gurgaon 3
Indiana 3
Lahore 3
Lucca 3
Madrid 3
Mexico City 3
Mountain View 3
Paris 3
Pisticci 3
Portici 3
Shenzhen 3
Toronto 3
Varazze 3
Verona 3
Vienna 3
Ann Arbor 2
Athens 2
Boscoreale 2
Budrio 2
Cambridge 2
Campegine 2
Carife 2
Totale 4.373
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Nome #
Il ciglio primario e le malattie genetiche da disfunzione ciliare 137
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 83
Integrated genomics identifies MiR-181/TFAM pathway as a critical driver of drug resistance in melanoma 83
The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets. 69
Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. 60
Study of the role of the Ofd1 protein in the hippocampus 60
Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis 60
Pemiganitib. Fibroblast growth factor receptor inhibitor, Treatment of cholangiocarcinoma. 60
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22 59
Ofd1 controls dorso-ventral patterning in the brain and plays a developmental stage dependent role in ciliogenesis. 58
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 57
Role of uL3 in the crosstalk between nucleolar stress and autophagy in colon cancer cells 56
Oral-Facial-Digital Type I Syndrome 51
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 50
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy 48
A new candidate region for the positional cloning of the XLP gene 47
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery 47
miR-181a/b downregulation exerts a protective action on mitochondrial disease models 45
The deubiquitinating enzyme USP14 controls ciliogenesis and hedgehog signalling 45
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells 44
A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells 44
The pervasive role of the MiR-181 family in development, neurodegeneration, and cancer 44
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-liked nonspecific mental retardation. 43
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 43
Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease 42
Novel functional features of the LIS-H domain: role in protein dimerization, half-life and cellular localization 42
Basal body proteins regulate broad paracrine signaling by context-specific proteasomal degradation of signaling mediators. 42
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin-remodeling complex 41
A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells. 41
“A gene from the critical region for X-linked juvanile retinoschisis on Xp22.3 is homologous to the drosophila retinal degeneration C(rdgc) gene”. 41
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 41
Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics 40
The Oral-Facial-Digital Type I protein is required for primary cilia formation and for left-right axis specification. 40
“A cluster of Sulfatase genes on Xp22.3: Mutations in Chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy”. 40
“An international collaborative effort on the mutation analysis of the XLRS1 gene in 238 cases of X-linked retinoschisis”. 40
Cerebral dysgenesis does not exclude OFD I syndrome. 40
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models 40
Combining β-Carotene with 5-FU via Polymeric Nanoparticles as a Novel Therapeutic Strategy to Overcome uL3-Mediated Chemoresistance in p53-Deleted Colorectal Cancer Cells 39
CDKL5/Stk9 Kinase Inactivation is Associated with Neuronal Developmental Disorders 39
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. 39
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 39
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 39
X-inactivation and human disease: X-linked dominant male-lethal disorders. 38
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation 38
Xp contiguous gene syndromes: from clinical observation to disease gene identification 38
Ofd1 is Required in Limb Bud Patterning and Endochondral Bone Development 38
Oral -facial-digital syndromes: a review and diagnostic guidelines 37
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). 37
Histone Deacetylase SIRT1 promotes loss of primary cilia in Cholangiocarcinoma 37
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma 36
The aberrant host response to EBV infection in X-linked Lymphoproliferative disease results from mutations in a novel SH2-domain encoding gene 36
A new gene on Xp22.3 escapes X-inactivation. 36
Kidney-specific inactivation of Ofd1 leads to relal cystic disease associated with upregulation of the mTOR pathway. 36
Are primary cilia involved in Embryonic Stem Cells differentiation and/or the maintenance of the undifferentiated state? 36
L’inattivazione del cromosoma X nella variabilità fenotipica osservata nelle malattie dominanti legate al cromosoma X. 36
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 36
New therapeutic strategies for drug-resistant melanoma 35
New insights into the centrosome-associated spliceosome components as regulators of ciliogenesis and tissue identity 35
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. 35
Xp contigous gene syndromes: fom clinical observation to disease gene identification. 35
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 35
The role of the centrosomal/basal body protein Ofd1 in the postnatal liver. 35
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for MRX locus. 34
A medaka model to study the molecular basis of Microphhalmia with linear skin defects (MLS) syndrome. 34
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 33
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region. 33
Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. 33
“Strategie per l'identificazione di geni: lo stato dell'arte” 33
“Le Basi Molecolari della sindrome Oro-Facio-Digitale di tipo 1”. 33
“ An eXceptional chromosome” 33
The role of OFD1 in renal cystic disease. 33
La sindrome Oro-facio-digitale come sistema modello per studiare i diversi aspetti patologici delle ciliopatie. 33
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia 33
Microphthalmia with linear skin lesions (MLS) syndrome, an unconventional mitochondrial disorder 33
Expansion of the phenotype of lateral meningocele syndrome 33
The Molecular basis of Oral-facial-digital type 1 (OFD1) syndrome. 32
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP diacylglycerol synthase gene. 32
Identification of the Gene for Oral-Facial-Digital Type I Syndrome 32
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil a-helical domains. 32
La microftalmia con lesioni cutanee lineari (MLS): approcci diversificati per l'identificazione delle basi molecolari della patologia. 32
“Malattie ereditarie con rene policistico: l'esempio della sindrome oro-facio-digitale di tipo I.” 32
Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development. 32
Update on oral-facial-digital syndromes (OFDS) 32
Identification and characterization of a novel member of the dystrobrevin gene family. 31
Identification and characterization of AFG3L2, a novel paraplegin-related gene. 31
Mutations of the Mitochondrial Holocytochrome c-Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome. 31
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy terminal domain. 31
Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. 31
Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo 31
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy 31
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. 30
MID2, a homolog of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. 30
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. 30
Una proposta di valutazione dello sviluppo infantile/A model for the assessment of the infantile development 30
Apoptosome independent caspase 9 activation underlies Microphthalmia with linear skin defects (MLS) syndrome. 30
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 29
Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster on Xp22. 29
Unraveling the role of the OFD1 protein in protein synthesis and mTOR pathway activation. 29
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 29
α-synuclein overexpression in the retina leads to vision impairment and degeneration of dopaminergic amacrine cells 29
Totale 4.042
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Categoria #
all - tutte 35.764
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 35.764
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020331 0 0 0 0 0 0 4 11 22 38 73 183
2020/2021999 16 86 117 104 105 183 91 16 124 25 106 26
2021/20221.036 24 9 15 56 12 29 17 38 126 126 134 450
2022/20231.143 274 64 20 86 143 117 8 88 161 105 54 23
2023/2024878 39 109 92 53 41 56 29 86 21 42 213 97
2024/20251.970 378 605 16 92 63 306 510 0 0 0 0 0
Totale 7.672