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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
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
New age-related hearing loss candidate genes in humans: an ongoing challenge
New age-related hearing loss candidate genes in humans: an ongoing challenge
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New age-related hearing loss candidate genes in humans: an ongoing challenge

Di Stazio, M. ; Morgan, A. ; Brumat, M. ; Bassani, S. ; Dell'Orco, D. ; Marino, V. ; Garagnani, P. ; Giuliani, C. ; Gasparini, P. ; Girotto, G.

Gene, 2020-06, Vol.742, p.144561-144561, Article 144561 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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4
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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5
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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6
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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7
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
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What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

Bianco, Anna Monica ; Ragusa, Giulia ; Di Carlo, Valentina ; Faletra, Flavio ; Di Stazio, Mariateresa ; Racano, Costantina ; Trisolino, Giovanni ; Cappellani, Stefania ; De Pellegrin, Maurizio ; d’Addetta, Ignazio ; Carluccio, Giuseppe ; Monforte, Sergio ; Andreacchio, Antonio ; Dibello, Daniela ; d’Adamo, Adamo P.

Genes, 2022-10, Vol.13 (11), p.1958 [Periódico revisado por pares]

Basel: MDPI AG

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8
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss
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Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss

Girotto, Giorgia ; Morgan, Anna ; Krishnamoorthy, Navaneethakrishnan ; Cocca, Massimiliano ; Brumat, Marco ; Bassani, Sissy ; La Bianca, Martina ; Di Stazio, Mariateresa ; Gasparini, Paolo

Frontiers in genetics, 2019-02, Vol.10, p.142-142 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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9
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant
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Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant

De Bernardi, Margherita Lucia ; Di Stazio, Agnese ; Romano, Alfonso ; Minardi, Raffaella ; Bisulli, Francesca ; Licchetta, Laura ; Aiello, Salvatore ; Carelli, Valerio ; Brunetti-Pierri, Nicola ; Cappuccio, Gerarda ; Terrone, Gaetano

European journal of medical genetics, 2022-05, Vol.65 (5), p.104500-104500, Article 104500 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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10
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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