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Search Results - Mastantuono, Elisa
Search Results - Mastantuono, Elisa
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The genetics underlying acquired long QT syndrome: impact for genetic screening
by
Itoh, Hideki
,
Crotti, Lia
,
Aiba, Takeshi
,
Spazzolini, Carla
,
Denjoy, Isabelle
,
Fressart, Véronique
,
Hayashi, Kenshi
,
Nakajima, Tadashi
,
Ohno, Seiko
,
Makiyama, Takeru
,
Wu, Jie
,
Hasegawa, Kanae
,
Mastantuono, Elisa
,
Dagradi, Federica
,
Pedrazzini, Matteo
,
Yamagishi, Masakazu
,
Berthet, Myriam
,
Murakami, Yoshitaka
,
Shimizu, Wataru
,
Guicheney, Pascale
,
Schwartz, Peter J
,
Horie, Minoru
Published in
European heart journal
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Congenital heart disease risk loci identified by genome-wide association study in European patients
by
Lahm, Harald
,
Jia, Meiwen
,
Dreßen, Martina
,
Wirth, Felix
,
Puluca, Nazan
,
Gilsbach, Ralf
,
Keavney, Bernard D
,
Cleuziou, Julie
,
Beck, Nicole
,
Bondareva, Olga
,
Dzilic, Elda
,
Burri, Melchior
,
König, Karl C
,
Ziegelmüller, Johannes A
,
Abou-Ajram, Claudia
,
Neb, Irina
,
Zhang, Zhong
,
Doppler, Stefanie A
,
Mastantuono, Elisa
,
Lichtner, Peter
,
Eckstein, Gertrud
,
Hörer, Jürgen
,
Ewert, Peter
,
Priest, James R
,
Hein, Lutz
,
Lange, Rüdiger
,
Meitinger, Thomas
,
Cordell, Heather J
,
Müller-Myhsok, Bertram
,
Krane, Markus
Published in
The Journal of clinical investigation
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Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity
by
Dorn, Tatjana
,
Kornherr, Jessica
,
Parrotta, Elvira I
,
Zawada, Dorota
,
Ayetey, Harold
,
Santamaria, Gianluca
,
Iop, Laura
,
Mastantuono, Elisa
,
Sinnecker, Daniel
,
Goedel, Alexander
,
Dirschinger, Ralf J
,
My, Ilaria
,
Laue, Svenja
,
Bozoglu, Tarik
,
Baarlink, Christian
,
Ziegler, Tilman
,
Graf, Elisabeth
,
Hinkel, Rabea
,
Cuda, Giovanni
,
Kääb, Stefan
,
Grace, Andrew A
,
Grosse, Robert
,
Kupatt, Christian
,
Meitinger, Thomas
,
Smith, Austin G
,
Laugwitz, Karl‐Ludwig
,
Moretti, Alessandra
Published in
The EMBO journal
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Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
by
Iuso, Arcangela
,
Wiersma, Marit
,
Schüller, Hans-Joachim
,
Pode-Shakked, Ben
,
Marek-Yagel, Dina
,
Grigat, Mathias
,
Schwarzmayr, Thomas
,
Berutti, Riccardo
,
Alhaddad, Bader
,
Kanon, Bart
,
Grzeschik, Nicola A.
,
Okun, Jürgen G.
,
Perles, Zeev
,
Salem, Yishay
,
Barel, Ortal
,
Vardi, Amir
,
Rubinshtein, Marina
,
Tirosh, Tal
,
Dubnov-Raz, Gal
,
Messias, Ana C.
,
Terrile, Caterina
,
Barshack, Iris
,
Volkov, Alex
,
Avivi, Camilla
,
Eyal, Eran
,
Mastantuono, Elisa
,
Kumbar, Muhamad
,
Abudi, Shachar
,
Braunisch, Matthias
,
Strom, Tim M.
,
Meitinger, Thomas
,
Hoffmann, Georg F.
,
Prokisch, Holger
,
Haack, Tobias B.
,
Brundel, Bianca J.J.M.
,
Haas, Dorothea
,
Sibon, Ody C.M.
,
Anikster, Yair
Published in
American journal of human genetics
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Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome
by
Meier, Anna B.
,
Raj Murthi, Sarala
,
Rawat, Hilansi
,
Toepfer, Christopher N.
,
Santamaria, Gianluca
,
Schmid, Manuel
,
Mastantuono, Elisa
,
Schwarzmayr, Thomas
,
Berutti, Riccardo
,
Cleuziou, Julie
,
Ewert, Peter
,
Görlach, Agnes
,
Klingel, Karin
,
Laugwitz, Karl-Ludwig
,
Seidman, Christine E.
,
Seidman, Jonathan G.
,
Moretti, Alessandra
,
Wolf, Cordula M.
Published in
iScience
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A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
by
Iuso, Arcangela
,
Alhaddad, Bader
,
Weigel, Corina
,
Kotzaeridou, Urania
,
Mastantuono, Elisa
,
Schwarzmayr, Thomas
,
Graf, Elisabeth
,
Terrile, Caterina
,
Prokisch, Holger
,
Strom, Tim M.
,
Hoffmann, Georg F.
,
Meitinger, Thomas
,
Haack, Tobias B.
Published in
JIMD Reports, Volume 44
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Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome
by
Krane, Markus
,
Dreßen, Martina
,
Santamaria, Gianluca
,
My, Ilaria
,
Schneider, Christine M.
,
Dorn, Tatjana
,
Laue, Svenja
,
Mastantuono, Elisa
,
Berutti, Riccardo
,
Rawat, Hilansi
,
Gilsbach, Ralf
,
Schneider, Pedro
,
Lahm, Harald
,
Schwarz, Sascha
,
Doppler, Stefanie A.
,
Paige, Sharon
,
Puluca, Nazan
,
Doll, Sophia
,
Neb, Irina
,
Brade, Thomas
,
Zhang, Zhong
,
Abou-Ajram, Claudia
,
Northoff, Bernd
,
Holdt, Lesca M.
,
Sudhop, Stefanie
,
Sahara, Makoto
,
Goedel, Alexander
,
Dendorfer, Andreas
,
Tjong, Fleur V.Y.
,
Rijlaarsdam, Maria E.
,
Cleuziou, Julie
,
Lang, Nora
,
Kupatt, Christian
,
Bezzina, Connie
,
Lange, Rüdiger
,
Bowles, Neil E.
,
Mann, Matthias
,
Gelb, Bruce D.
,
Crotti, Lia
,
Hein, Lutz
,
Meitinger, Thomas
,
Wu, Sean
,
Sinnecker, Daniel
,
Gruber, Peter J.
,
Laugwitz, Karl-Ludwig
,
Moretti, Alessandra
Published in
Circulation (New York, N.Y.)
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There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome
by
Westphal, Dominik S.
,
Mastantuono, Elisa
,
Seidel, Heide
,
Riedhammer, Korbinian M.
,
Hahn, Andreas
,
Vill, Katharina
,
Wagner, Matias
Published in
Gene
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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
by
Feichtinger, René G.
,
Oláhová, Monika
,
Kishita, Yoshihito
,
Garone, Caterina
,
Kremer, Laura S.
,
Yagi, Mikako
,
Uchiumi, Takeshi
,
Jourdain, Alexis A.
,
Thompson, Kyle
,
D’Souza, Aaron R.
,
Kopajtich, Robert
,
Alston, Charlotte L.
,
Koch, Johannes
,
Sperl, Wolfgang
,
Mastantuono, Elisa
,
Strom, Tim M.
,
Wortmann, Saskia B.
,
Meitinger, Thomas
,
Pierre, Germaine
,
Chinnery, Patrick F.
,
Chrzanowska-Lightowlers, Zofia M.
,
Lightowlers, Robert N.
,
DiMauro, Salvatore
,
Calvo, Sarah E.
,
Mootha, Vamsi K.
,
Moggio, Maurizio
,
Sciacco, Monica
,
Comi, Giacomo P.
,
Ronchi, Dario
,
Murayama, Kei
,
Ohtake, Akira
,
Rebelo-Guiomar, Pedro
,
Kohda, Masakazu
,
Kang, Dongchon
,
Mayr, Johannes A.
,
Taylor, Robert W.
,
Okazaki, Yasushi
,
Minczuk, Michal
,
Prokisch, Holger
Published in
American journal of human genetics
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
by
Repp, Birgit M
,
Mastantuono, Elisa
,
Alston, Charlotte L
,
Schiff, Manuel
,
Haack, Tobias B
,
Rötig, Agnes
,
Ardissone, Anna
,
Lombès, Anne
,
Catarino, Claudia B
,
Diodato, Daria
,
Schottmann, Gudrun
,
Poulton, Joanna
,
Burlina, Alberto
,
Jonckheere, An
,
Munnich, Arnold
,
Rolinski, Boris
,
Ghezzi, Daniele
,
Rokicki, Dariusz
,
Wellesley, Diana
,
Martinelli, Diego
,
Wenhong, Ding
,
Lamantea, Eleonora
,
Ostergaard, Elsebet
,
Pronicka, Ewa
,
Pierre, Germaine
,
Smeets, Hubert J M
,
Wittig, Ilka
,
Scurr, Ingrid
,
de Coo, Irenaeus F M
,
Moroni, Isabella
,
Smet, Joél
,
Mayr, Johannes A
,
Dai, Lifang
,
de Meirleir, Linda
,
Schuelke, Markus
,
Zeviani, Massimo
,
Morscher, Raphael J
,
McFarland, Robert
,
Seneca, Sara
,
Klopstock, Thomas
,
Meitinger, Thomas
,
Wieland, Thomas
,
Strom, Tim M
,
Herberg, Ulrike
,
Ahting, Uwe
,
Sperl, Wolfgang
,
Nassogne, Marie-Cecile
,
Ling, Han
,
Fang, Fang
,
Freisinger, Peter
,
Van Coster, Rudy
,
Strecker, Valentina
,
Taylor, Robert W
,
Häberle, Johannes
,
Vockley, Jerry
,
Prokisch, Holger
,
Wortmann, Saskia
Published in
Orphanet journal of rare diseases
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Abstract 12059: Incidental Findings in Cardiomyopathy and Channelopathy Genes Among 5891 Individuals Undergoing Whole-exome Sequencing. What Should be Reported?
by
Mastantuono, Elisa
,
Wieland, Thomas
,
Berutti, Riccardo
,
Lichtner, Peter
,
Strom, Tim
,
Meitinger, Thomas
,
Crotti, Lia
Published in
Circulation (New York, N.Y.)
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Congenital heart disease risk loci identified by genomewide association study in European patients
by
Lahm, Harald
,
Jia, Meiwen
,
Dreften, Martina
,
Wirth, Felix
,
Puluca, Nazan
,
Gilsbach, Ralf
,
Keavney, Bernard D
,
Cleuziou, Julie
,
Beck, Nicole
,
Bondareva, Olga
,
Dzilic, Elda
,
Burri, Melchior
,
Konig, Karl C
,
Ziegelmuller, Johannes A
,
Abou-Ajram, Claudia
,
Neb, Irina
,
Zhang, Zhong
,
Doppler, Stefanie A
,
Mastantuono, Elisa
,
Lichtner, Peter
,
Eckstein, Gertrud
,
Horer, Jurgen
,
Ewert, Peter
,
Priest, James R
,
Hein, Lutz
,
Lange, Rudiger
,
Meitinger, Thomas
,
Cordell, Heather J
,
Muller-Myhsok, Bertram
,
Krane, Markus
Published in
The Journal of clinical investigation
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