BUONFIGLIO PAULA; MENAZZI SEBASTIAN; FRANCIPANE, LILIANA; LOTERSZTEIN VANESA; FERREIRO VERONICA; ELGOYHEN ANA BELEN; DALAMON, VIVIANA

Mitochondrial DNA Variants in a cohort from Argentina with suspected Leber's Hereditary Optic Neuropathy (LHON).

PLOS ONE; Lugar: San Francisco; Año: 2023

MARÍA DOMÍNGUEZ-RUIZ ; LAURA RUIZ-PALMERO; PAULA I. BUONFIGLIO; IRENE GARCÍA-VAQUERO; ELENA GÓMEZ-ROSAS; MARINA GOÑI; MANUELA VILLAMAR; MATÍAS MORÍN; MIGUEL A. MORENO-PELAYO; ANA B. ELGOYHEN; FRANCISCO J. DEL CASTILLO; DALAMÓN, VIVIANA KARINA; IGNACIO DEL CASTILLO

Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

biomedicines; Lugar: Basel; Año: 2023 vol. 11

BUONFIGLIO, PAULA I.; BRUQUE, CARLOS D.; LOTERSZTEIN, VANESA; LUCE, LEONELA; GILIBERTO, FLORENCIA; MENAZZI, SEBASTIÁN; FRANCIPANE, LILIANA; PAOLI, BIBIANA; GOLDSCHMIDT, ERNESTO; ELGOYHEN, ANA BELÉN; DALAMÓN, VIVIANA

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Scientific Reports; Año: 2022 vol. 12 p. 301 - 315

LEONELA LUCE; MICAELA CARCIONE; CHIARA MAZZANT; PAULA I. BUONFIGLIO; DALAMON VIVIANA KARINA; LILIA MESA; ALBERTO DUBROVSKY; JOSÉ CORDERÍ; FLORENCIA GILIBERTO

Theragnosis for Duchenne Muscular Dystrophy

frontiers in pharmacology; Lugar: Lausanne; Año: 2021

BUONFIGLIO PAULA; BRUQUE CARLOS DAVID; LEONELA N LUCE; FLORENCIA GILIBERTO; VANESA LOTERSZTEIN; MENAZZI SEBASTIAN; BIBIANA PAOLI; ANA BELEN ELGOYHEN; DALAMÓN, VIVIANA KARINA

GJB2 and GJB6 genetic variant curation in an Argentinean non-syndromic hearing impaired cohort

genes; Lugar: Basel; Año: 2020

BUONFIGLIO PAULA; ANA BELEN ELGOYHEN; DALAMON VIVIANA KARINA

Genetica de la audición en Argentina: escuchando al genoma

Ciencia e Investigación; Lugar: Buenos Aires; Año: 2020 p. 27 - 39

LEONELA N LUCE; VIVIANA DALAMON; MARCELA FERRER; DIANA PARMA; IRENE SZIJAN; FLORENCIA GILIBERTO

MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene

JOURNAL OF THE NEUROLOGICAL SCIENCES; Lugar: Amsterdam ; Año: 2016 vol. 365 p. 22 - 30

LEONELA N LUCE; VIVIANA DALAMON; MARCELA FERRER; DIANA PARMA; IRENE SZIJAN; FLORENCIA GILIBERTO

MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene

JOURNAL OF THE NEUROLOGICAL SCIENCES; Lugar: Amsterdam ; Año: 2016 vol. 365 p. 22 - 30

DALAMÓN, VIVIANA KARINA; FIORI MC; FIGUEROA VA; OLIVA CA; DEL RIO R; GONZALEZ W; CANAN J; ELGOYHEN AB; ALTENBERG GA; RETAMAL MA

Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY; Lugar: Berlin; Año: 2016 vol. 468 p. 1 - 10

DALAMÓN, VIVIANA KARINA; BUONFIGLIO PAULA; LARRALDE MARGARITA; CRAIG PO; LOTERSZTEIN VANESA; CHOATE KEITH; PALLARES NORMA; DIAMANTE VICENTE; ELGOYHEN ANA BELEN

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: case report

BMC MEDICAL GENETICS; Lugar: Londres; Año: 2016

DALAMON V; WERNERT MF; LOTERSZTEIN V; CRAIG PO; REYNOSO R; BARTEIK ME; CURET C; PAOLI B; MANSILLA E; ELGOYHEN AB

Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype/phenotype analysis in moderate cases

MOLECULAR BIOLOGY REPORTS; Lugar: Berlin; Año: 2013 vol. 40 p. 6945 - 6955

VIVIANA DALAMON; VANESA LOTERSZTEIN; AGUSTINA BEHERAN; MARCELA LIPOVSEK; FERNANDO DIAMANTE; NORMA PALLARES; LILIANA FRANCIPANE; GUSTAVO FRECHTEL; BIBIANA PAOLI; ENRIQUE MANSILLA; VICENTE DIAMANTE; ANA BELEN ELGOYHEN

GJB2 and GJB6 Genes: Molecular Study and Identification of Novel Mutations in the Hearing-Impaired Argentinean Population

AUDIOLOGY AND NEURO-OTOLOGY; Lugar: Basel; Año: 2010 vol. 15 p. 194 - 202

DALAMON V; ELGOYHEN AB

Genetic sensorineural hearing loss: up to date

Rev. Med. Clin. Condes; Lugar: Santiago de Chile; Año: 2009 vol. 20 p. 408 - 417

PARMA DL; PARMA DL, DALAMON VK, FERNÁNDEZ C, SZIJAN I, DAMEL A.; FERNÁNDEZ C; SZIJAN I; DAMEL A.

“THE RELEVANCE OF MOLECULAR BIOLOGY STUDIES IN THE GENETIC COUNSELLING OF ARGENTINE RETINOBLASTOMA FAMILIES”

Arch Soc Esp Oftalmol; Lugar: Barcelona ; Año: 2009 vol. 84 p. 557 - 562

DALAMÓN V; LOTERSZTEIN V; LIPOVSEK M,; BÈHERÁN A; MONDINO ME; DIAMANTE F; PALLARES N; DIAMANTE V; ELGOYHEN AB

“PERFORMANCE OF SPEECH PERCEPTION AFTER COCHLEAR IMPLANTATION IN DFNB1 PATIENTS.

ACTA OTO-LARYNGOLOGICA; Lugar: Stockholm, Sweden ; Año: 2009 vol. 129 p. 395 - 398

GÓMEZ-CASATI ME; WEDEMEYER C; TARANDA J; LIPOVSEK M; DALAMON V; ELGOYHEN AB; KATZ E.

“ELECTRICAL PROPERTIES AND FUNCTIONAL EXPRESSION OF IONIC CHANNELS IN COCHLEAR INNER HAIR CELLS OF MICE LACKING THE ALPHA10 NICOTINIC CHOLINERGIC RECEPTOR SUBUNIT.

JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY; Lugar: New York; Año: 2009 vol. 10 p. 221 - 232

PARMA DL; PARMA DL, DALAMON VK, FERNÁNDEZ C, SZIJAN I, DAMEL A.; FERNÁNDEZ C; SZIJAN I; DAMEL A.

“THE RELEVANCE OF MOLECULAR BIOLOGY STUDIES IN THE GENETIC COUNSELLING OF ARGENTINE RETINOBLASTOMA FAMILIES”

Arch Soc Esp Oftalmol; Lugar: Barcelona ; Año: 2009 vol. 84 p. 557 - 562

DALAMON V; ELGOYHEN AB

Genetic sensorineural hearing loss: up to date

Rev. Med. Clin. Condes; Lugar: Santiago de Chile; Año: 2009 vol. 20 p. 408 - 417

DALAMÓN V; LOTERSZTEIN V; LIPOVSEK M,; BÈHERÁN A; MONDINO ME; DIAMANTE F; PALLARES N; DIAMANTE V; ELGOYHEN AB

“PERFORMANCE OF SPEECH PERCEPTION AFTER COCHLEAR IMPLANTATION IN DFNB1 PATIENTS.

ACTA OTO-LARYNGOLOGICA; Lugar: Stockholm, Sweden ; Año: 2009 vol. 129 p. 395 - 398

GÓMEZ-CASATI ME; WEDEMEYER C; TARANDA J; LIPOVSEK M; DALAMON V; ELGOYHEN AB; KATZ E.

“ELECTRICAL PROPERTIES AND FUNCTIONAL EXPRESSION OF IONIC CHANNELS IN COCHLEAR INNER HAIR CELLS OF MICE LACKING THE ALPHA10 NICOTINIC CHOLINERGIC RECEPTOR SUBUNIT.

JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY; Lugar: New York; Año: 2009 vol. 10 p. 221 - 232

FERNANDEZ C,; REPETTO K,; DALAMON V; BERGONZI F,; FERREIRO V,; SZIJAN I

RB1 germ-line deletions in Argentine retinoblastoma patients.

MOLECULAR DIAGNOSIS & THERAPY; Lugar: Auckland, New Zealand; Año: 2007 vol. 11 p. 55 - 61

FERNANDEZ C,; REPETTO K,; DALAMON V; BERGONZI F,; FERREIRO V,; SZIJAN I

RB1 germ-line deletions in Argentine retinoblastoma patients.

MOLECULAR DIAGNOSIS & THERAPY; Lugar: Auckland, New Zealand; Año: 2007 vol. 11 p. 55 - 61

DALAMÓN V; BÉHÈRAN A,; DIAMANTE F; PALLARES N; DIAMANTE V; ELGOYHEN AB

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.

HEARING RESEARCH.; Lugar: Netherlands; Año: 2005 vol. 207 p. 43 - 49

DALAMÓN V; SURACE E; GILIBERTO F; FERREIRO V; SZIJAJN I.

“DETECTION OF GERMLINE MUTATIONS IN ARGENTINE RETINOBLASTOMA PATIENTS. LOW AND FULL PENETRANCE RETINOBLASTOMA CAUSED BY THE SAME GERMLINE TRUNCATING MUTATION”

JOURNAL OF BIOLOGICAL CHEMISTRY; Lugar: Seoul, Korea; Año: 2004 vol. 37 p. 246 - 253

DALAMON V; ELGOYHEN AB

Hipoacusias neurosensoriales: su estudio genético y diagnóstico molecular

Ear, Nose and Throat Journal; Lugar: Cleveland.; Año: 2004 vol. 2 p. 14 - 19

GILIBERTO FLORENCIA, FERREIRO VERO´NICA, DALAMON VIVIANA AND SZIJAN IRENE

Dystrophin deletions and cognitive impairment Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy in Duchenne/Becker muscular dystrophy

Neurological Research; Lugar: Detroit, United States; Año: 2004 vol. 26 p. 83 - 87

DALAMON V; ELGOYHEN AB

Hipoacusias neurosensoriales: su estudio genético y diagnóstico molecular

Ear, Nose and Throat Journal; Lugar: Cleveland.; Año: 2004 vol. 2 p. 14 - 19

DALAMÓN V; SURACE E; GILIBERTO F; FERREIRO V; SZIJAJN I.

“DETECTION OF GERMLINE MUTATIONS IN ARGENTINE RETINOBLASTOMA PATIENTS. LOW AND FULL PENETRANCE RETINOBLASTOMA CAUSED BY THE SAME GERMLINE TRUNCATING MUTATION”

JOURNAL OF BIOLOGICAL CHEMISTRY; Lugar: Seoul, Korea; Año: 2004 vol. 37 p. 246 - 253

GILIBERTO FLORENCIA, FERREIRO VERO´NICA, DALAMON VIVIANA AND SZIJAN IRENE

Dystrophin deletions and cognitive impairment Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy in Duchenne/Becker muscular dystrophy

Neurological Research; Lugar: Detroit, United States; Año: 2004 vol. 26 p. 83 - 87

SZIJAN, ; ROCHEFORT,; E. SURACE,; V. DALAMÓN; G. ROULEAU.

“NF2 TUMOR SUPPRESSOR GENE, A COMPREHENSIVE AND EFFICIENT DETECTION OF SOMATIC MUTATIONS BY DENATURING HPLC AND MICROARRAY – CGH”

NEUROMOLECULAR MEDICINE; Año: 2003 vol. 3 p. 41 - 52

FLORENCIA GILIBERTO; FERREIRO V; DALAMON V; EZEQUIEL SURACE; COTIGNOLA J; ESPERANTE S; BORELINA D; BARANZINI SE; IRENE SZIJAN

Direct Deletion Analysis in Two Duchenne Muscular Dystrophy Symptomatic Females Using Polymorphic Dinucleotide (CA)n Loci within the Dystrophin Gene

Journal of Biochemistry and Molecular Biology; Lugar: Seoul 135-703, Korea ; Año: 2003 vol. 36 p. 179 - 184

SZIJAN, ; ROCHEFORT,; E. SURACE,; V. DALAMÓN; G. ROULEAU.

“NF2 TUMOR SUPPRESSOR GENE, A COMPREHENSIVE AND EFFICIENT DETECTION OF SOMATIC MUTATIONS BY DENATURING HPLC AND MICROARRAY – CGH”

NEUROMOLECULAR MEDICINE; Año: 2003 vol. 3 p. 41 - 52

FLORENCIA GILIBERTO; FERREIRO V; DALAMON V; EZEQUIEL SURACE; COTIGNOLA J; ESPERANTE S; BORELINA D; BARANZINI SE; IRENE SZIJAN

Direct Deletion Analysis in Two Duchenne Muscular Dystrophy Symptomatic Females Using Polymorphic Dinucleotide (CA)n Loci within the Dystrophin Gene

Journal of Biochemistry and Molecular Biology; Lugar: Seoul 135-703, Korea ; Año: 2003 vol. 36 p. 179 - 184

CERRUTI S; TESTONI G; DALAMON V; KADE P; VARELA A; SAVINO EA

Effects of fasting and hypoxic preconditioning on the hypoxic-reoxygenated ventricular strips of the rat heart.

JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY; Año: 2002 vol. 58 p. 95 - 101

CERRUTI S; TESTONI G; DALAMON V; KADE P; VARELA A; SAVINO EA

Effects of fasting and hypoxic preconditioning on the hypoxic-reoxygenated ventricular strips of the rat heart.

JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY; Año: 2002 vol. 58 p. 95 - 101

VIVIANA DALAMON; EZEQUIEL SURACE; DANIEL BORELINA; MARIA ZIEMBAR; SEBASTIAN ESPERANTE; LILIANA FRANCIPANE; MARIA DAVILA; DIANA PARMA; IRENE SZIJAN

Detection of Mutations in Argentine Retinoblastoma Patients by Segregation of Polymorphisms, Exon Analysis and Cytogenetic Test

OPHTHALMIC RESEARCH.; Año: 2001 vol. 33 p. 336 - 339

VIVIANA DALAMON; EZEQUIEL SURACE; DANIEL BORELINA; MARIA ZIEMBAR; SEBASTIAN ESPERANTE; LILIANA FRANCIPANE; MARIA DAVILA; DIANA PARMA; IRENE SZIJAN

Detection of Mutations in Argentine Retinoblastoma Patients by Segregation of Polymorphisms, Exon Analysis and Cytogenetic Test

OPHTHALMIC RESEARCH.; Año: 2001 vol. 33 p. 336 - 339

SZIJAN IRENE, ORLOW IRENE, DALAMÓN VIVIANA, VERGANI PATRICIA, DANILOWICZ KARINA, MEZZADRI NORBERTO, CORDON-CARDO CARLOS, BRUNO OSCAR

“ALTERATIONS IN THE RETINOBLASTOMA PATHWAY OF CELL CYCLE CONTROL IN PARATHYROID TUMORS."

ONCOLOGY REPORTS; Lugar: Athens , Greece; Año: 2000 vol. 7 p. 421 - 425

SZIJAN IRENE, ORLOW IRENE, DALAMÓN VIVIANA, VERGANI PATRICIA, DANILOWICZ KARINA, MEZZADRI NORBERTO, CORDON-CARDO CARLOS, BRUNO OSCAR

“ALTERATIONS IN THE RETINOBLASTOMA PATHWAY OF CELL CYCLE CONTROL IN PARATHYROID TUMORS."

ONCOLOGY REPORTS; Lugar: Athens , Greece; Año: 2000 vol. 7 p. 421 - 425

VARELA A; TESTONI G; DALAMON V; KADE P; CARREGAL M; SAVINO EA

Lack of protective effects of adenosine on the hypoxic and reoxigenated atria and ventricular strips of the rat

JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY; Año: 1999 vol. 55 p. 17 - 24

VARELA A; DALAMON V; TESTONI G; CARREGAL M; CERRUTI S; SAVINO EA

Effects of pentanoate, 4 pentanoate, 3hidroxybutirate and insuline on the tissue-levels of long chain acylCoa and carnitine in the oxigenated and hypoxic rat atria

ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY; Año: 1999 vol. 107 p. 22 - 26

VARELA A; TESTONI G; DALAMON V; KADE P; CARREGAL M; SAVINO EA

Lack of protective effects of adenosine on the hypoxic and reoxigenated atria and ventricular strips of the rat

JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY; Año: 1999 vol. 55 p. 17 - 24

VARELA A; DALAMON V; TESTONI G; CARREGAL M; CERRUTI S; SAVINO EA

Effects of pentanoate, 4 pentanoate, 3hidroxybutirate and insuline on the tissue-levels of long chain acylCoa and carnitine in the oxigenated and hypoxic rat atria

ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY; Año: 1999 vol. 107 p. 22 - 26

BARANZINI SE; GILIBERTO F; DALAMON V; BARREIRO C; GARCÍA-ERRO M; GRIPPO J; SZIJAN I

Carrier detection in Duchenne and Becker muscular dystrophy Argentine families.

CLINICAL GENETICS; Lugar: Ireland; Año: 1998 vol. 54 p. 503 - 511

BARANZINI SE; GILIBERTO F; DALAMON V; BARREIRO C; GARCÍA-ERRO M; GRIPPO J; SZIJAN I

Carrier detection in Duchenne and Becker muscular dystrophy Argentine families.

CLINICAL GENETICS; Lugar: Ireland; Año: 1998 vol. 54 p. 503 - 511

VARELA A; TESTONI G; CARREGAL M; DALAMON V

Effects of fasting, hypoxia, methylpalmoxirate and oxfenicine on the tissue-levels of long-chain acyl CoA and acylcarnitine in the rat atria.

ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY; Lugar: Archives of physiology and biochemistry ; Año: 1997 vol. 105 p. 572 - 576

VARELA A; TESTONI G; CARREGAL M; DALAMON V; SAVINO EA

Effects of 3-hydroxybutyrate on the hypoxic and reoxygenated atria from fed and fasted rats.

JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY; Lugar: Springer Netherlands; Año: 1997 vol. 53 p. 377 - 382

VARELA A; TESTONI G; CARREGAL M; DALAMON V; SAVINO EA

Effects of 3-hydroxybutyrate on the hypoxic and reoxygenated atria from fed and fasted rats.

JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY; Lugar: Springer Netherlands; Año: 1997 vol. 53 p. 377 - 382

VARELA A; TESTONI G; CARREGAL M; DALAMON V

Effects of fasting, hypoxia, methylpalmoxirate and oxfenicine on the tissue-levels of long-chain acyl CoA and acylcarnitine in the rat atria.

ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY; Lugar: Archives of physiology and biochemistry ; Año: 1997 vol. 105 p. 572 - 576

CARREGAL M; VARELA A; DALAMON V; SACKS S; SAVINO EA

Beneficial Effects of Oxfenicine on the Hypoxic Rat Atria

ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY; Año: 1995 vol. 103 p. 45 - 49

VARELA A; DALAMON V; SACKS S; CARREGAL M

Effects of L-carnitine on the hypoxic atria from fed and fasted rats.

JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY; Lugar: Revista espanola de fisiologia ; Año: 1995 vol. 51 p. 201 - 206

CARREGAL M; VARELA A; DALAMON V; SACKS S; SAVINO EA

Beneficial Effects of Oxfenicine on the Hypoxic Rat Atria

ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY; Año: 1995 vol. 103 p. 45 - 49

VARELA A; DALAMON V; SACKS S; CARREGAL M

Effects of L-carnitine on the hypoxic atria from fed and fasted rats.

JOURNAL OF PHYSIOLOGY AND BIOCHEMISTRY; Lugar: Revista espanola de fisiologia ; Año: 1995 vol. 51 p. 201 - 206