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Your search keyword '"Rinaldi, Ernesto"' showing total 26 results
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26 results on '"Rinaldi, Ernesto"'

5. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

Author

Miano, Maria Giuseppina, Filippini, Francesco, Trujillo, Mariajos, Conte, Ivan, Lanzara, Carmela, Milln, Jos Maria, De Bernardo, Carmelilia, Grammatico, Barbara, Mangino, Massimo, Torrente, Isabella, Carrozzo, Romeo, Rinaldi, Ernesto, Ventruto, Valerio, Durso, Michele, Ayuso, Carmen, Ciccodicola, Alfredo, TESTA, Francesco, SIMONELLI, Francesca, Miano, Maria Giuseppina, Testa, Francesco, Filippini, Francesco, Trujillo, Mariajo, Conte, Ivan, Lanzara, Carmela, Milln, Jos Maria, De Bernardo, Carmelilia, Grammatico, Barbara, Mangino, Massimo, Torrente, Isabella, Carrozzo, Romeo, Simonelli, Francesca, Rinaldi, Ernesto, Ventruto, Valerio, Durso, Michele, Ayuso, Carmen, and Ciccodicola, Alfredo

Subjects
Comparative protein modeling, Male, Models, Molecular, DFNB10, Chromosomes, Human, Pair 21, Genetic Linkage, medicine.medical_treatment, DNA Mutational Analysis, Conserved sequence, Protease, serine, Consanguinity, Genes, Recessive/genetics, Serine Endopeptidases/chemistry/ genetics, Missense mutation, Membrane Protein, Genetics (clinical), Conserved Sequence, ddc:616, Genetics, biology, Linkage, Mutation analysi, Serine Endopeptidases, Chromosomes, Human, Pair 21/genetics, Chromosome Mapping, Neoplasm Proteins, Pedigree, Serine protease, Serine Endopeptidase, Mutation (genetic algorithm), Female, Conserved Sequence/genetics, Human, Tunisia, Genotype, Mutation, Missense/ genetics, Hearing Loss, Sensorineural, Molecular Sequence Data, Hearing Loss, Sensorineural/congenital/ genetics, Mutation, Missense, Locus (genetics), Genes, Recessive, DNA Mutational Analysi, Neoplasm Protein, Genetic, Audiometry, Genetic linkage, DFNB8, Linkage (Genetics)/genetics, medicine, Humans, Amino Acid Sequence, Deafne, Gene, TMPRSS3, Protease, Binding Sites, Base Sequence, Binding Site, Membrane Proteins, Molecular biology, Protein Structure, Tertiary, biology.protein, Transmembrane protease, serine, 3, Non syndromic
Abstract

Recently the TMPRSS3 gene, which encodes a transmembrane serine protease, was found to be responsible for two non-syndromic recessive deafness loci located on human chromosome 21q22.3, DFNB8 and DFNB10. We found evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian families segregating congenital autosomal recessive sensorineural deafness. The audiometric tests showed a loss of hearing greater than 70 dB, in all affected individuals of both families. Mutation screening of TMPRSS3 revealed two novel missense mutations, W251C and P404L, altering highly conserved amino acids of the serine protease domain. Both mutations were not found in 200 control Tunisian chromosomes. The detection of naturally-occurring TMPRSS3 missense mutations in deafness families identifies functionally important amino acids. Comparative protein modeling of the TMPRSS3 protease domain predicted that W251C might lead to a structural rearrangement affecting the active site H257 and that P404L might alter the geometry of the active site loop and therefore affect the serine protease activity.

Published
2001

6. Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients

Author

Simonelli, Francesca, primary, Ziviello, Carmela, additional, Testa, Francesco, additional, Rossi, Settimio, additional, Fazzi, Elisa, additional, Bianchi, Paolo Emilio, additional, Fossarello, Maurizio, additional, Signorini, Sabrina, additional, Bertone, Chiara, additional, Galantuomo, Silvana, additional, Brancati, Francesco, additional, Valente, Enza Maria, additional, Ciccodicola, Alfredo, additional, Rinaldi, Ernesto, additional, Auricchio, Alberto, additional, and Banfi, Sandro, additional

Published
2007
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9. Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa

Author

Lavorgna, Giovanni, primary, Lestingi, Marta, additional, Ziviello, Carmela, additional, Testa, Francesco, additional, Simonelli, Francesca, additional, Manitto, Maria Pia, additional, Brancato, Rosario, additional, Ferrari, Maurizio, additional, Rinaldi, Ernesto, additional, Ciccodicola, Alfredo, additional, and Banfi, Sandro, additional

Published
2003
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10. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa

Author

Conte, Ivan, primary, Lestingi, Marta, additional, den Hollander, Anneke, additional, Miano, Maria Giuseppina, additional, Alfano, Giovanna, additional, Circolo, Diego, additional, Pugliese, Mariarosaria, additional, Testa, Francesco, additional, Simonelli, Francesca, additional, Rinaldi, Ernesto, additional, Baiget, Montserrat, additional, Banfi, Sandro, additional, and Ciccodicola, Alfredo, additional

Published
2002
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11. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

Author

Miano, Maria Giuseppina, primary, Testa, Francesco, additional, Filippini, Francesco, additional, Trujillo, Mariajosè, additional, Conte, Ivan, additional, Lanzara, Carmela, additional, Millán, Josè Maria, additional, De Bernardo, Carmelilia, additional, Grammatico, Barbara, additional, Mangino, Massimo, additional, Torrente, Isabella, additional, Carrozzo, Romeo, additional, Simonelli, Francesca, additional, Rinaldi, Ernesto, additional, Ventruto, Valerio, additional, D’Urso, Michele, additional, Ayuso, Carmen, additional, and Ciccodicola, Alfredo, additional

Published
2001
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13. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

Author

Miano, Maria Giuseppina, primary, Testa, Francesco, additional, Strazzullo, Maria, additional, Trujillo, Mariajose, additional, De Bernardo, Carmelilia, additional, Grammatico, Barbara, additional, Simonelli, Francesca, additional, Mangino, Massimo, additional, Torrente, Isabella, additional, Ruberto, Giulio, additional, Beneyto, Magdalena, additional, Antinolo, Guillermo, additional, Rinaldi, Ernesto, additional, Danesino, Cesare, additional, Ventruto, Valerio, additional, D'Urso, Michele, additional, Ayuso, Carmen, additional, Baiget, Monserrat, additional, and Ciccodicola, Alfredo, additional

Published
1999
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20. Chronobiology and Closed-Angle Glaucoma

Author

Costagliola, Ciro, primary, Rinaldi, Ernesto, additional, Vito, Pasquale, additional, Manni, Eugenio, additional, Iura, Attilio, additional, and Cati-Giovannelli, Bernardino, additional

Published
1988
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24. Morning glory syndrome with chronic simple glaucoma

Author

Gilda Cennamo, Ernesto Rinaldi, G De Rosa, R Severino, Rinaldi, E, De Rosa, G, Severino, R, Cennamo, Giovanni, Rinaldi, Ernesto, and Cennamo, G.

Subjects
Adult, medicine.medical_specialty, Intraocular pressure, genetic structures, Fundus Oculi, Fundus (eye), Anterior chamber angle, Ophthalmology, Lens, Crystalline, medicine, Chronic simple glaucoma, Humans, Intraocular Pressure, Genetics (clinical), Normal intraocular pressure, Morning, business.industry, Staphyloma, Glaucoma, medicine.disease, eye diseases, Surgery, Pediatrics, Perinatology and Child Health, Female, sense organs, business
Abstract

A 42-year-old woman had morning glory syndrome of the fundus of the right eye. The finding was related to chronic simple glaucoma and without pulsation of the staphyloma. The clinical symptoms and echographic pattern during the endocular hypertensive phase with normal intraocular pressure was studied after appropriate medication. This associated disease is attributed to the presence of a congenital malformation of the anterior chamber angle.

Published
1986

25. An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration

Author

Mario Bifani, Anna Nesti, Maria Michela Rinaldi, Francesca Simonelli, Maria Luisa Cavaliere, Giuseppe de Crecchio, Francesco Testa, Ernesto Rinaldi, Simonelli, Francesca, Testa, Francesco, Nesti, Anna, de Crecchio, Giuseppe, BIFANI SCONOCCHIA, Mario, Cavaliere, Maria Luisa, Rinaldi, Ernesto, Rinaldi, Maria Michela, Simonell, F, Testa, F, Nesti, A, DE CRECCHIO, Giuseppe, Bifani, M, Cavaliere, Ml, Rinaldi, E, and Rinaldi, M. M.

Subjects
Retinal degeneration, Adult, Male, medicine.medical_specialty, Pediatrics, Microcephaly, Visual acuity, genetic structures, Fundus Oculi, Eye disease, Genetic counseling, Visual Acuity, Short stature, Choroid Disease, Ophthalmology, Intellectual Disability, medicine, Myopia, Humans, medicine.diagnostic_test, business.industry, Retinal Degeneration, Fundus photography, Chorioretinitis, Choroid Diseases, General Medicine, Middle Aged, medicine.disease, eye diseases, Pedigree, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Human
Abstract

Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and Chorioretinal degeneration that was characterized by various degrees of clinical expression. Methods: An ophthalmologic examination, including visual acuity, visual field testing, an electroretinogram, and fundus photography, and a neurologic examination, including neurodevelopmental status and neuroimaging studies, were performed for all subjects. Skeletal radiography, chromosome studies, and serologie investigations were also performed. Results: In this family, only two of the six affected members had an association of microcephaly, myopia, and chorioretinal degeneration. The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy. Conclusions: The significant finding in members from this dominant pedigree of microcephaly was the association of short stature and high myopia, heretofore seen only in families with recessive microcephaly. These findings could be useful for genetic counseling in the apparently isolated forms of microcephaly with chorioretinopathy. J Pediatr Ophthalmol Strabismus 2002;39:288292.

26. An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.

Author

Simonell F, Testa F, Nesti A, de Crecchio G, Bifani M, Cavaliere ML, Rinaldi E, and Rinaldi MM

Subjects
Adult, Child, Preschool, Female, Fundus Oculi, Humans, Intellectual Disability genetics, Male, Middle Aged, Myopia genetics, Pedigree, Visual Acuity, Choroid Diseases genetics, Microcephaly genetics, Retinal Degeneration genetics
Abstract

Purpose: We studied an Italian family affected by the autosomal dominant form of microcephaly and chorioretinal degeneration that was characterized by various degrees of clinical expression., Methods: An ophthalmologic examination, including visual acuity, visual field testing, an electroretinogram, and fundus photography, and a neurologic examination, including neurodevelopmental status and neuroimaging studies, were performed for all subjects. Skeletal radiography, chromosome studies, and serologic investigations were also performed., Results: In this family, only two of the six affected members had an association of microcephaly, myopia, and chorioretinal degeneration. The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy., Conclusions: The significant finding in members from this dominant pedigree of microcephaly was the association of short stature and high myopia, heretofore seen only in families with recessive microcephaly. These findings could be useful for genetic counseling in the apparently isolated forms of microcephaly with chorioretinopathy.

Published
2002
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