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1
Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
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Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Pippucci, Tommaso ; Savoia, Anna ; Perrotta, Silverio ; Pujol-Moix, Núria ; Noris, Patrizia ; Castegnaro, Giovanni ; Pecci, Alessandro ; Gnan, Chiara ; Punzo, Francesca ; Marconi, Caterina ; Gherardi, Samuele ; Loffredo, Giuseppe ; De Rocco, Daniela ; Scianguetta, Saverio ; Barozzi, Serena ; Magini, Pamela ; Bozzi, Valeria ; Dezzani, Luca ; Di Stazio, Mariateresa ; Ferraro, Marcella ; Perini, Giovanni ; Seri, Marco ; Balduini, Carlo L.

American journal of human genetics, 2011-01, Vol.88 (1), p.115-120 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
TBL1Y: a new gene involved in syndromic hearing loss
TBL1Y: a new gene involved in syndromic hearing loss
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TBL1Y: a new gene involved in syndromic hearing loss

Di Stazio, Mariateresa ; Collesi, Chiara ; Vozzi, Diego ; Liu, Wei ; Myers, Mike ; Morgan, Anna ; D Adamo, Pio Adamo ; Girotto, Giorgia ; Rubinato, Elisa ; Giacca, Mauro ; Gasparini, Paolo

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.466-474 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss

Morgan, Anna ; Vuckovic, Dragana ; Krishnamoorthy, Navaneethakrishnan ; Rubinato, Elisa ; Ambrosetti, Umberto ; Castorina, Pierangela ; Franzè, Annamaria ; Vozzi, Diego ; La Bianca, Martina ; Cappellani, Stefania ; Di Stazio, Mariateresa ; Gasparini, Paolo ; Girotto, Giorgia

European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.70-79 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)
Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)
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Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

Donaudy, Francesca ; Snoeckx, Rik ; Pfister, Markus ; Zenner, Hans-Peter ; Blin, Nikolaus ; Di Stazio, Mariateresa ; Ferrara, Antonella ; Lanzara, Carmen ; Ficarella, Romina ; Declau, Frank ; Pusch, Carsten M. ; Nürnberg, Peter ; Melchionda, Salvatore ; Zelante, Leopoldo ; Ballana, Ester ; Estivill, Xavier ; Van Camp, Guy ; Gasparini, Paolo ; Savoia, Anna

American journal of human genetics, 2004-04, Vol.74 (4), p.770-776 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders
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Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders

Di Stazio, Mariateresa ; Zanus, Caterina ; Faletra, Flavio ; Pesaresi, Alessia ; Ziccardi, Ilaria ; Morgan, Anna ; Girotto, Giorgia ; Costa, Paola ; Carrozzi, Marco ; d'Adamo, Adamo P ; Musante, Luciana

Genes, 2023-01, Vol.14 (2), p.250 [Periódico revisado por pares]

Switzerland: MDPI AG

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6
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss
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Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

Vuckovic, Dragana ; Dawson, Sally ; Scheffer, Deborah I ; Rantanen, Taina ; Morgan, Anna ; Di Stazio, Mariateresa ; Vozzi, Diego ; Nutile, Teresa ; Concas, Maria P ; Biino, Ginevra ; Nolan, Lisa ; Bahl, Aileen ; Loukola, Anu ; Viljanen, Anne ; Davis, Adrian ; Ciullo, Marina ; Corey, David P ; Pirastu, Mario ; Gasparini, Paolo ; Girotto, Giorgia

Human molecular genetics, 2015-10, Vol.24 (19), p.5655-5664 [Periódico revisado por pares]

England: Oxford University Press

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7
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains
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Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

MARIGO, Valeria ; NIGRO, Alessandra ; PECCI, Alessandro ; MONTANARO, Donatella ; DI STAZIO, Mariateresa ; BALDUINI, Carlo L ; SAVOIA, Anna

Genomics (San Diego, Calif.), 2004-06, Vol.83 (6), p.1125-1133 [Periódico revisado por pares]

San Diego, CA: Elsevier

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8
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
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Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA

Martinelli, Marcella ; Di Stazio, Mariateresa ; Scapoli, Luca ; Marchesini, Jlenia ; Di Bari, Filomena ; Pezzetti, Furio ; Carinci, Francesco ; Palmieri, Annalisa ; Carinci, Paolo ; Savoia, Anna

Journal of medical genetics, 2007-06, Vol.44 (6), p.387-392 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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