IRIS
FRANCO, BRUNELLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.277
EU - Europa 2.180
AS - Asia 1.354
AF - Africa 17
SA - Sud America 6
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 4
Totale 6.842
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Nazione #
US - Stati Uniti d'America 3.206
SG - Singapore 828
IT - Italia 765
CN - Cina 487
UA - Ucraina 451
FI - Finlandia 253
DE - Germania 204
NL - Olanda 117
SE - Svezia 113
IE - Irlanda 112
GB - Regno Unito 78
CA - Canada 71
RU - Federazione Russa 49
FR - Francia 15
CI - Costa d'Avorio 13
VN - Vietnam 13
HK - Hong Kong 11
BE - Belgio 8
IN - India 6
CH - Svizzera 4
EU - Europa 4
AU - Australia 3
BR - Brasile 3
ES - Italia 3
KR - Corea 3
PK - Pakistan 3
AT - Austria 2
IL - Israele 2
AL - Albania 1
AR - Argentina 1
BO - Bolivia 1
EC - Ecuador 1
EG - Egitto 1
GR - Grecia 1
LI - Liechtenstein 1
LT - Lituania 1
LV - Lettonia 1
MA - Marocco 1
NZ - Nuova Zelanda 1
PL - Polonia 1
SN - Senegal 1
TD - Ciad 1
TR - Turchia 1
Totale 6.842
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Città #
Singapore 685
Jacksonville 499
Chandler 413
Santa Clara 295
Princeton 239
Nanjing 171
Millbury 165
Ashburn 131
Boston 114
Wilmington 106
Naples 100
Amsterdam 99
Ottawa 65
Napoli 62
Beijing 48
Des Moines 48
Nanchang 45
Cagliari 42
Jiaxing 35
Hebei 32
Norwalk 31
Moscow 29
Shenyang 28
Lawrence 27
Changsha 25
Rome 24
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
Redwood City 8
Fairfield 7
Pozzuoli 7
Shanghai 7
Formia 6
Helsinki 6
Palermo 6
Pavia 6
Seattle 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
Hong Kong 3
Indiana 3
Lahore 3
Lucca 3
Madrid 3
Mountain View 3
Paris 3
Pisticci 3
Portici 3
Shenzhen 3
Toronto 3
Varazze 3
Verona 3
Ann Arbor 2
Boscoreale 2
Budrio 2
Cambridge 2
Campegine 2
Carife 2
Cellatica 2
Ercolano 2
Faenza 2
Falkenstein 2
Fort Worth 2
Totale 3.993
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Nome #
Il ciglio primario e le malattie genetiche da disfunzione ciliare 133
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 78
Integrated genomics identifies MiR-181/TFAM pathway as a critical driver of drug resistance in melanoma 72
The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets. 66
Study of the role of the Ofd1 protein in the hippocampus 58
Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis 58
Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. 57
Ofd1 controls dorso-ventral patterning in the brain and plays a developmental stage dependent role in ciliogenesis. 56
Pemiganitib. Fibroblast growth factor receptor inhibitor, Treatment of cholangiocarcinoma. 56
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22 53
Role of uL3 in the crosstalk between nucleolar stress and autophagy in colon cancer cells 53
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 51
Oral-Facial-Digital Type I Syndrome 48
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy 46
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery 45
A new candidate region for the positional cloning of the XLP gene 44
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 44
A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells 42
miR-181a/b downregulation exerts a protective action on mitochondrial disease models 42
The deubiquitinating enzyme USP14 controls ciliogenesis and hedgehog signalling 42
The pervasive role of the MiR-181 family in development, neurodegeneration, and cancer 42
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells 41
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-liked nonspecific mental retardation. 40
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 40
Basal body proteins regulate broad paracrine signaling by context-specific proteasomal degradation of signaling mediators. 40
Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease 39
Novel functional features of the LIS-H domain: role in protein dimerization, half-life and cellular localization 39
A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells. 39
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 39
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin-remodeling complex 38
“A gene from the critical region for X-linked juvanile retinoschisis on Xp22.3 is homologous to the drosophila retinal degeneration C(rdgc) gene”. 38
“An international collaborative effort on the mutation analysis of the XLRS1 gene in 238 cases of X-linked retinoschisis”. 38
Cerebral dysgenesis does not exclude OFD I syndrome. 38
Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics 37
The Oral-Facial-Digital Type I protein is required for primary cilia formation and for left-right axis specification. 37
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. 37
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 37
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models 37
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 37
CDKL5/Stk9 Kinase Inactivation is Associated with Neuronal Developmental Disorders 36
X-inactivation and human disease: X-linked dominant male-lethal disorders. 36
“A cluster of Sulfatase genes on Xp22.3: Mutations in Chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy”. 36
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). 35
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation 35
Xp contiguous gene syndromes: from clinical observation to disease gene identification 35
Ofd1 is Required in Limb Bud Patterning and Endochondral Bone Development 35
Histone Deacetylase SIRT1 promotes loss of primary cilia in Cholangiocarcinoma 35
Oral -facial-digital syndromes: a review and diagnostic guidelines 34
New insights into the centrosome-associated spliceosome components as regulators of ciliogenesis and tissue identity 33
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. 33
Xp contigous gene syndromes: fom clinical observation to disease gene identification. 33
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 33
The aberrant host response to EBV infection in X-linked Lymphoproliferative disease results from mutations in a novel SH2-domain encoding gene 33
A new gene on Xp22.3 escapes X-inactivation. 33
Kidney-specific inactivation of Ofd1 leads to relal cystic disease associated with upregulation of the mTOR pathway. 33
Are primary cilia involved in Embryonic Stem Cells differentiation and/or the maintenance of the undifferentiated state? 33
The role of the centrosomal/basal body protein Ofd1 in the postnatal liver. 33
La sindrome Oro-facio-digitale come sistema modello per studiare i diversi aspetti patologici delle ciliopatie. 33
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 33
A medaka model to study the molecular basis of Microphhalmia with linear skin defects (MLS) syndrome. 32
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma 31
New therapeutic strategies for drug-resistant melanoma 31
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region. 31
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for MRX locus. 31
Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. 31
“ An eXceptional chromosome” 31
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP diacylglycerol synthase gene. 30
Identification of the Gene for Oral-Facial-Digital Type I Syndrome 30
La microftalmia con lesioni cutanee lineari (MLS): approcci diversificati per l'identificazione delle basi molecolari della patologia. 30
“Malattie ereditarie con rene policistico: l'esempio della sindrome oro-facio-digitale di tipo I.” 30
“Strategie per l'identificazione di geni: lo stato dell'arte” 30
“Le Basi Molecolari della sindrome Oro-Facio-Digitale di tipo 1”. 30
The role of OFD1 in renal cystic disease. 30
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia 30
Expansion of the phenotype of lateral meningocele syndrome 30
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 29
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 29
The Molecular basis of Oral-facial-digital type 1 (OFD1) syndrome. 29
Identification and characterization of a novel member of the dystrobrevin gene family. 29
Identification and characterization of AFG3L2, a novel paraplegin-related gene. 29
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy terminal domain. 29
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil a-helical domains. 29
Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. 29
Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development. 29
Update on oral-facial-digital syndromes (OFDS) 29
Microphthalmia with linear skin lesions (MLS) syndrome, an unconventional mitochondrial disorder 29
MID2, a homolog of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. 28
Mutations of the Mitochondrial Holocytochrome c-Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome. 28
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. 28
Una proposta di valutazione dello sviluppo infantile/A model for the assessment of the infantile development 28
Apoptosome independent caspase 9 activation underlies Microphthalmia with linear skin defects (MLS) syndrome. 28
Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo 28
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 27
Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster on Xp22. 27
Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster in Xp22 27
From Xp22 Disease genes identification to the generation of an animal model for the Oral Facial-digital type 1 syndrome. 27
Child development in Neapolitan Public Day Care Centres 27
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 27
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. 26
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. 26
Totale 3.746
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Categoria #
all - tutte 33.659
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 33.659
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020332 0 0 0 0 0 1 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
2024/20251.430 378 605 16 92 63 276 0 0 0 0 0 0
Totale 7.132