• 6902 Citations
  • 41 h-Index
1972 …2018
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Research Output 1972 2018

2018

Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia

Bossi, S., Musante, I., Bonfiglio, T., Bonifacino, T., Emionite, L., Cerminara, M., Cervetto, C., Marcoli, M., Bonanno, G., Ravazzolo, R., Pittaluga, A. & Puliti, A., Jan 2018, In : Neurobiology of Disease. 109, Pt A, p. 44-53 10 p.

Research output: Contribution to journalArticle

Ataxia
Glutamic Acid
Cerebellar Ataxia
alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid
Synaptosomes
5 Citations (Scopus)

Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia

Bossi, S., Musante, I., Bonfiglio, T., Bonifacino, T., Emionite, L., Cerminara, M., Cervetto, C., Marcoli, M., Bonanno, G., Ravazzolo, R., Pittaluga, A. & Puliti, A., Jan 1 2018, In : Neurobiology of Disease. 109, p. 44-53 10 p.

Research output: Contribution to journalArticle

Ataxia
Glutamic Acid
Cerebellar Ataxia
alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid
Synaptosomes
7 Citations (Scopus)

High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel

Tomati, V., Pesce, E., Caci, E., Sondo, E., Scudieri, P., Marini, M., Amato, F., Castaldo, G., Ravazzolo, R., Galietta, L. J. V. & Pedemonte, N., Jan 1 2018, In : Journal of Biological Chemistry. 293, 4, p. 1203-1217 15 p.

Research output: Contribution to journalArticle

Cystic Fibrosis Transmembrane Conductance Regulator
Screening
Throughput
Proteins
Cell membranes
1 Citation (Scopus)

Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva

Ravazzolo, R., Cappato, S. & Bocciardi, R., Apr 1 2018, In : Bone. 109, p. 187-191 5 p.

Research output: Contribution to journalReview article

Myositis Ossificans
Heterotopic Ossification
Bone Morphogenetic Proteins
Osteogenesis
Genes
Myositis Ossificans
Immunophenotyping
Monocytes
Blood Cells
Up-Regulation

Pharmacological Inhibition of the Ubiquitin Ligase RNF5 Rescues F508del-CFTR in Cystic Fibrosis Airway Epithelia

Sondo, E., Falchi, F., Caci, E., Ferrera, L., Giacomini, E., Pesce, E., Tomati, V., Mandrup Bertozzi, S., Goldoni, L., Armirotti, A., Ravazzolo, R., Cavalli, A. & Pedemonte, N., Jul 19 2018, In : Cell Chemical Biology. 25, 7, p. 891-905.e8

Research output: Contribution to journalArticle

Ligases
Ubiquitin
Cystic Fibrosis
Epithelium
Pharmacology
9 Citations (Scopus)
Myositis Ossificans
Bone Morphogenetic Proteins
Inborn Genetic Diseases
Rare Diseases
bones
2017
7 Citations (Scopus)

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2

Pagani, A., Colucci, S., Bocciardi, R., Bertamino, M., Dufour, C., Ravazzolo, R., Silvestri, L. & Camaschella, C., Jun 22 2017, In : Blood. 129, 25, p. 3392-3395 4 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)
Bone Morphogenetic Protein Receptors
Mutation

Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d’un cas de diagnostic tardif

Translated title of the contribution: Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed latePaysal, J., Sarret, C., Merlin, E., Ravazzolo, R., Bocciardi, R., Garcier, J-M., Monnot, S., Laffargue, F., Baujat, G. & Echaubard, S., Jun 2017, In : Archives de Pediatrie. 24, 6, p. 547-551 5 p.

Research output: Contribution to journalArticle

Myositis Ossificans
Osteogenesis
Early Diagnosis
Delayed Diagnosis
Fascia
9 Citations (Scopus)

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease

Di Zanni, E., Adamo, A., Belligni, E., Lerone, M., Martucciello, G., Mattioli, G., Pini Prato, A., Ravazzolo, R., Silengo, M., Bachetti, T. & Ceccherini, I., Jul 2017, In : Biochimica et Biophysica Acta - General Subjects. 1863, 7, p. 1770-1777 8 p.

Research output: Contribution to journalArticle

Hirschsprung Disease
Transcription
Alanine
Genes
Mutation
11 Citations (Scopus)

Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization

Lasigliè, D., Mensa-Vilaro, A., Ferrera, D., Caorsi, R., Penco, F., Santamaria, G., Di Duca, M., Amico, G., Nakagawa, K., Antonini, F., Tommasini, A., Consolini, R., Insalaco, A., Cattalini, M., Obici, L., Gallizzi, R., Santarelli, F., Del Zotto, G., Severino, M., Rubartelli, A. & 7 others, Ravazzolo, R., Martini, A., Ceccherini, I., Nishikomori, R., Gattorno, M., Arostegui, J. I. & Borghini, S., Nov 1 2017, In : Journal of Rheumatology. 44, 11, p. 1667-1673 7 p.

Research output: Contribution to journalArticle

Cryopyrin-Associated Periodic Syndromes
Mosaicism
Mutation
High-Throughput Nucleotide Sequencing
Rheumatology
11 Citations (Scopus)

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization

Lasigliè, D., Mensa-Vilaro, A., Ferrera, D., Caorsi, R., Penco, F., Santamaria, G., Di Duca, M., Amico, G., Nakagawa, K., Antonini, F., Tommasini, A., Consolini, R., Insalaco, A., Cattalini, M., Obici, L., Gallizzi, R., Santarelli, F., Del Zotto, G., Severino, M., Rubartelli, A. & 7 others, Ravazzolo, R., Martini, A., Ceccherini, I., Nishikomori, R., Gattorno, M., Arostegui, J. I. & Borghini, S., Nov 2017, In : Journal of Rheumatology. 44, 11, p. 1667-1673 7 p.

Research output: Contribution to journalArticle

Cryopyrin-Associated Periodic Syndromes
Mosaicism
Mutation
High-Throughput Nucleotide Sequencing
Neurologic Manifestations
11 Citations (Scopus)

Cryopyrin-associated Periodic Syndromes in Italian Patients

Lasigliè, D., Mensa-Vilaro, A., Ferrera, D., Caorsi, R., Penco, F., Santamaria, G., Di Duca, M., Amico, G., Nakagawa, K., Antonini, F., Tommasini, A., Consolini, R., Insalaco, A., Cattalini, M., Obici, L., Gallizzi, R., Santarelli, F., Del Zotto, G., Severino, M., Rubartelli, A. & 7 others, Ravazzolo, R., Martini, A., Ceccherini, I., Nishikomori, R., Gattorno, M., Arostegui, J. I. & Borghini, S., Nov 2017, In : Journal of Rheumatology. 44, 11, p. 1667-1673 7 p.

Research output: Contribution to journalArticle

Cryopyrin-Associated Periodic Syndromes
Mosaicism
Mutation
High-Throughput Nucleotide Sequencing
Neurologic Manifestations
11 Citations (Scopus)

Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization

Lasigliè, D., Mensa-Vilaro, A., Ferrera, D., Caorsi, R., Penco, F., Santamaria, G., Di Duca, M., Amico, G., Nakagawa, K., Antonini, F., Tommasini, A., Consolini, R., Insalaco, A., Cattalini, M., Obici, L., Gallizzi, R., Santarelli, F., Del Zotto, G., Severino, M., Rubartelli, A. & 7 others, Ravazzolo, R., Martini, A., Ceccherini, I., Nishikomori, R., Gattorno, M., Arostegui, J. I. & Borghini, S., 2017, In : Journal of Rheumatology. 44, 11, p. 1667-1673 7 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
Myositis Ossificans
Immunophenotyping
Monocytes
Blood Cells
Up-Regulation
3 Citations (Scopus)

Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization

Musante, I., Mattinzoli, D., Otescu, L. A., Bossi, S., Ikehata, M., Gentili, C., Cangemi, G., Gatti, C., Emionite, L., Messa, P., Ravazzolo, R., Rastaldi, M. P., Riccardi, D. & Puliti, A., Jan 1 2017, In : Bone. 94, p. 114-123 10 p.

Research output: Contribution to journalArticle

Physiologic Calcification
Bone and Bones
Osteoblasts
Wild Animals
Ionotropic Glutamate Receptors
3 Citations (Scopus)

Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization

Musante, I., Mattinzoli, D., Otescu, L. A., Bossi, S., Ikehata, M., Gentili, C., Cangemi, G., Gatti, C., Emionite, L., Messa, P., Ravazzolo, R., Rastaldi, M. P., Riccardi, D. & Puliti, A., Jan 2017, In : Bone. 94, p. 114-123 10 p.

Research output: Contribution to journalArticle

Physiologic Calcification
Bone and Bones
Osteoblasts
Wild Animals
Ionotropic Glutamate Receptors
Neuroblastoma
Growth
Pharmaceutical Preparations
Down-Regulation
Mycophenolic Acid
2016
13 Citations (Scopus)

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: Loss of function effect and plausibility of a dominant negative mechanism

Panza, E., Escamilla-Honrubia, J. M., Marco-Marín, C., Gougeard, N., De Michele, G., Morra, V. B., Liguori, R., Salviati, L., Donati, M. A., Cusano, R., Pippucci, T., Ravazzolo, R., Németh, A. H., Smithson, S., Davies, S., Hurst, J. A., Bordo, D., Rubio, V. & Seri, M., Jan 1 2016, In : Brain. 139, 1, e3.

Research output: Contribution to journalLetter

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Panza, E., Escamilla-Honrubia, J. M., Marco-Marín, C., Gougeard, N., De Michele, G., Morra, V. B., Liguori, R., Salviati, L., Donati, M. A. L., Cusano, R., Pippucci, T., Ravazzolo, R., Németh, A. H., Smithson, S., Davies, S., Hurst, J. A., Bordo, D., Rubio, V. & Seri, M., Jan 1 2016, In : Brain. 139, p. e3

Research output: Contribution to journalLetter

Assessment of copy number variations in 120 patients with Poland syndrome

Vaccari, C. M., Tassano, E., Torre, M., Gimelli, S., Divizia, M. T., Romanini, M. V., Bossi, S., Musante, I., Valle, M., Senes, F., Catena, N., Bedeschi, M. F., Baban, A., Calevo, M. G., Acquaviva, A. M., Lerone, M., Ravazzolo, R. & Puliti, A., 2016, In : BMC Medical Genetics. 17, 1

Research output: Contribution to journalArticle

Assessment of copy number variations in 120 patients with Poland syndrome

Vaccari, C., Tassano, E., Torre, M., Gimelli, S., Divizia, M. T., Romanini, M. V., Bossi, S., Musante, I., Valle, M., Senes, F., Catena, N., Bedeschi, M. F., Baban, A., Calevo, M. G., Acquaviva, M., Lerone, M., Ravazzolo, R. & Puliti, A., Nov 25 2016, In : BMC Medical Genetics. 17, 1, 89.

Research output: Contribution to journalArticle

Poland Syndrome
Pectoralis Muscles
Comparative Genomic Hybridization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Chromosome Deletion
7 Citations (Scopus)

Assessment of copy number variations in 120 patients with Poland syndrome

Vaccari, C. M., Tassano, E., Torre, M., Gimelli, S., Divizia, M. T., Romanini, M. V. C., Bossi, S., Musante, I., Valle, M. M., Senes, F., Catena, N., Bedeschi, M. F., Baban, A., Calevo, M. G., Acquaviva, M., Lerone, M., Ravazzolo, R. & Puliti, A., Nov 25 2016, In : BMC Medical Genetics. 17, 1, 89.

Research output: Contribution to journalArticle

Poland Syndrome
Pectoralis Muscles
Comparative Genomic Hybridization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Chromosome Deletion
24 Citations (Scopus)

Goblet Cell Hyperplasia Requires High Bicarbonate Transport to Support Mucin Release

Gorrieri, G., Scudieri, P., Caci, E., Schiavon, M., Tomati, V., Sirci, F., Napolitano, F., Carrella, D., Gianotti, A., Musante, I., Favia, M., Casavola, V., Guerra, L., Rea, F., Ravazzolo, R., Di Bernardo, D. & Galietta, L. J. V., Oct 27 2016, In : Scientific Reports. 6, 36016.

Research output: Contribution to journalArticle

Goblet Cells
Mucins
Bicarbonates
Hyperplasia
Interleukin-4
14 Citations (Scopus)

High-throughput screening for modulators of ACVR1 transcription: Discovery of potential therapeutics for fibrodysplasia ossificans progressiva

Cappato, S., Tonachini, L., Giacopelli, F., Tirone, M., Galietta, L. J. V., Sormani, M., Giovenzana, A., Spinelli, A. E., Canciani, B., Brunelli, S., Ravazzolo, R. & Bocciardi, R., Jun 1 2016, In : DMM Disease Models and Mechanisms. 9, 6, p. 685-696 12 p.

Research output: Contribution to journalArticle

Myositis Ossificans
Transcription
Modulators
Dipyridamole
Assays

High-throughput screening for modulators of ACVR1 transcription: Discovery of potential therapeutics for fibrodysplasia ossificans progressiva

Cappato, S., Tonachini, L., Giacopelli, F., Tirone, M., Galietta, L. J. V., Sormani, M., Giovenzana, A., Spinelli, A., Canciani, B., Brunelli, S., Ravazzolo, R. & Bocciardi, R., Jun 1 2016, In : DMM Disease Models and Mechanisms. 9, 6, p. 685-696 12 p.

Research output: Contribution to journalArticle

Myositis Ossificans
Transcription
Modulators
Dipyridamole
Assays
2 Citations (Scopus)

Hypogonadotropic hypogonadism in a trisomy X carrier: Phenotype description and genotype correlation

Fiorio, P., Rosaia De Santis, L., Cuoco, C., Gimelli, G., Gastaldi, R., Bonatti, F., Ravazzolo, R. & Bocciardi, R., Jan 2 2016, In : Gynecological Endocrinology. 32, 1, p. 14-17 4 p.

Research output: Contribution to journalArticle

Hypogonadism
Cytogenetic Analysis
Genetic Association Studies
Chromosome Deletion
Amenorrhea

IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma

Prigione, I., Covone, A. E., Giacopelli, F., Bocca, P., Risso, M., Tripodi, G., Pistorio, A., Sozzi, G., Airoldi, I., Ravazzolo, R. & Pistoia, V., Feb 1 2016, In : Immunobiology. 221, 2, p. 291-299 9 p.

Research output: Contribution to journalArticle

Interleukin-12
Haplotypes
Alleles
Knockout Mice
Genes
2 Citations (Scopus)

IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma

Prigione, I., Covone, A. E. L., Giacopelli, F., Bocca, P., Risso, F. M., Tripodi, G., Pistorio, A., Sozzi, G., Airoldi, I., Ravazzolo, R. & Pistoia, V., Feb 1 2016, In : Immunobiology. 221, 2, p. 291-299 9 p.

Research output: Contribution to journalArticle

Interleukin-12
Haplotypes
Alleles
Knockout Mice
Genes
23 Citations (Scopus)

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

Rusmini, M., Federici, S., Caroli, F., Grossi, A., Baldi, M., Obici, L., Insalaco, A., Tommasini, A., Caorsi, R., Gallo, E., Olivieri, A. N., Marzano, A., Coviello, D., Ravazzolo, R., Martini, A., Gattorno, M. & Ceccherini, I., 2016, In : Annals of the Rheumatic Diseases.

Research output: Contribution to journalArticle

Genes
Workflow
Mutation
Screening
Immune system

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

Rusmini, M., Federici, S., Caroli, F., Grossi, A., Baldi, M., Obici, L., Insalaco, A., Tommasini, A., Caorsi, R., Gallo, E., Olivieri, A. N., Marzano, A., Coviello, D., Ravazzolo, R., Martini, A., Gattorno, M. & Ceccherini, I., Aug 2016, In : Annals of the Rheumatic Diseases. 75, 8, p. 1550-7 8 p.

Research output: Contribution to journalArticle

Genes
Workflow
Mutation
Screening
Immune system

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

Rusmini, M., Federici, S., Caroli, F., Grossi, A., Baldi, M., Obici, L., Insalaco, A., Tommasini, A., Caorsi, R., Gallo, E., Olivieri, A. N., Marzano, A., Coviello, D., Ravazzolo, R., Martini, A., Gattorno, M. & Ceccherini, I., 2016, In : Annals of the Rheumatic Diseases. 75, 8, p. 1550-1557 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
Myositis Ossificans
Mutation
Brain Stem
Cerebellar Nuclei
Basal Ganglia
16 Citations (Scopus)

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

Matera, I., Rusmini, M., Guo, Y., Lerone, M., Li, J., Zhang, J., Di Duca, M., Nozza, P., Mosconi, M., Prato, A. P., Martucciello, G., Barabino, A., Morandi, F., de Giorgio, R., Stanghellini, V., Ravazzolo, R., Devoto, M., Hakonarson, H. & Ceccherini, I., Jan 27 2016, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Intestinal Pseudo-Obstruction
Exome
Genes
Urinary Catheterization
Peristalsis
5 Citations (Scopus)

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease

Covone, A. E., Fiorillo, C., Acquaviva, M., Trucco, F., Morana, G., Ravazzolo, R. & Minetti, C., Aug 1 2016, In : Clinical Genetics. 90, 2, p. 182-185 4 p.

Research output: Contribution to journalArticle

Motor Neuron Disease
Exome
Heterozygote
Genes
Hereditary Spastic Paraplegia
2015
1 Citation (Scopus)

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: Diagnosis improvement and interpretation of complex clinical phenotypes

Rusmini, M., Federici, S., Caroli, F., Grossi, A., Baldi, M., Obici, L., Insalaco, A., Tommasini, A., Caorsi, R., Gallo, E., Olivieri, A. N., Marzano, A. V., Coviello, D., Ravazzolo, R., Martini, A., Gattorno, M. & Ceccherini, I., Sep 28 2015, In : Pediatric Rheumatology. 13, 1, O24.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Functional analysis of acid-activated Cl- channels: Properties and mechanisms of regulation

Capurro, V., Gianotti, A., Caci, E., Ravazzolo, R., Galietta, L. J. V. & Zegarra-Moran, O., 2015, In : BBA - Biomembranes. Part A, p. 105-114 10 p.

Research output: Contribution to journalArticle

Functional analysis
Chemical activation
Phosphatidylinositol 3-Kinase
Dynamins
Phosphorylation
19 Citations (Scopus)

Genetic Inhibition of the Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated to F508del Cystic Fibrosis Mutation

Tomati, V., Sondo, E., Armirotti, A., Caci, E., Pesce, E., Marini, M., Gianotti, A., Ju Jeon, Y., Cilli, M., Pistorio, A., Mastracci, L., Ravazzolo, R., Scholte, B., Ronai, Z., Galietta, L. J. V. & Pedemonte, N., Jul 17 2015, In : Scientific Reports. 5, 12138.

Research output: Contribution to journalArticle

Ligases
Ubiquitin
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Phenotype
4 Citations (Scopus)
Preclinical Drug Evaluations
Neuroblastoma
Down-Regulation
Gene Expression
Curcumin
35 Citations (Scopus)

Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms

Scudieri, P., Caci, E., Venturini, A., Sondo, E., Pianigiani, G., Marchetti, C., Ravazzolo, R., Pagani, F. & Galietta, L. J. V., Sep 1 2015, In : Journal of Physiology. 593, 17, p. 3829-3848 20 p.

Research output: Contribution to journalArticle

Phosphatidylserines
Ion Channels
Phospholipid Transfer Proteins
Protein Isoforms
Lipids
11 Citations (Scopus)
Gene Expression Regulation
Neuroblastoma
Gene expression
3' Untranslated Regions
MicroRNAs
5 Citations (Scopus)
Central Nervous System
Mutation
Activin Receptors
Heterotopic Ossification
Incidental Findings
13 Citations (Scopus)

Upregulation of TMEM16A protein in bronchial epithelial cells by bacterial pyocyanin

Caci, E., Scudieri, P., Carlo, E. D., Morelli, P., Bruno, S., De Fino, I., Bragonzi, A., Gianotti, A., Sondo, E., Ferrera, L., Palleschi, A., Santambrogio, L., Ravazzolo, R. & Galietta, L. J. V., Jun 29 2015, In : PLoS One. 10, 6, e0131775.

Research output: Contribution to journalArticle

Pyocyanine
cystic fibrosis
Cystic Fibrosis
epithelial cells
Up-Regulation
2014
24 Citations (Scopus)

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

Haupt, J., Deichsel, A., Stange, K., Ast, C., Bocciardi, R., Ravazzolo, R., Di Rocco, M., Ferrari, P., Landi, A., Kaplan, F. S., Shore, E. M., Reissner, C. & Seemann, P., Oct 15 2014, In : Human Molecular Genetics. 23, 20, p. 5364-5377 14 p.

Research output: Contribution to journalArticle

Type I Activin Receptors
Myositis Ossificans
Mutation
Heterotopic Ossification
Ligands
15 Citations (Scopus)

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

Vaccari, C. M., Romanini, M. V., Musante, I., Tassano, E., Gimelli, S., Divizia, M. T., Torre, M., Morovic, C. G., Lerone, M., Ravazzolo, R. & Puliti, A., May 30 2014, In : BMC Medical Genetics. 15, 1, 63.

Research output: Contribution to journalArticle

Poland Syndrome
Chromosome Deletion
Monozygotic Twins
Pectoralis Muscles
Genes
4 Citations (Scopus)

Expression variability and function of the RET gene in adult peripheral blood mononuclear cells

Rusmini, M., Griseri, P., Matera, I., Pontarini, E., Ravazzolo, R., Mavilio, D. & Ceccherini, I., 2014, In : Journal of Cellular Physiology. 229, 12, p. 2027-2037 11 p.

Research output: Contribution to journalArticle

Blood Cells
Blood
Genes
T-cells
Lymphocytes
27 Citations (Scopus)

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot

Baban, A., Postma, A. V., Marini, M., Trocchio, G., Santilli, A., Pelegrini, M., Sirleto, P., Lerone, M., Albanese, S. B., Barnett, P., Boogerd, C. J., Dallapiccola, B., Digilio, M. C., Ravazzolo, R. & Pongiglione, G., Dec 1 2014, In : American Journal of Medical Genetics, Part A. 164, 12, p. 3100-3107 8 p.

Research output: Contribution to journalArticle

Tetralogy of Fallot
Mutation
Genetic Databases
Atrial Heart Septal Defects
Exons
18 Citations (Scopus)

Non-canonical translation start sites in the TMEM16A chloride channel

Sondo, E., Scudieri, P., Tomati, V., Caci, E., Mazzone, A., Farrugia, G., Ravazzolo, R. & Galietta, L. J. V., 2014, In : BBA - Biomembranes. 1838, 1 PARTB, p. 89-97 9 p.

Research output: Contribution to journalArticle

Chloride Channels
Epitopes
Initiator Codon
Codon
Calcium Chloride
2 Citations (Scopus)
Juvenile Arthritis
Arthritis
Genes
Joints
Alleles