Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
Gerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, Christopher Learn, John C. Dykes, Catherine L. Mercer, Bert Callewaert, Ilse Meerschaut, Alessandro Mauro Spinelli, Irene Bruno, Matthew J. Gillespie, Aaron T. Dorfman, Adda Grimberg, Mark E. Lindsay, Angela E. Lin
First published: 13 January 2022 https://doi.org/10.1002/ajmg.a.62645
Le Goff, Carine; Mahaut, Clémentine; Abhyankar, Avinash; Le Goff, Wilfried; Serre, Valérie; Afenjar, Alexandra; Destrée, Anne; di Rocco, Maja; Héron, Delphine; Jacquemont, Sébastien; Marlin, Sandrine; Simon, Marleen; Tolmie, John; Verloes, Alain; Casanova, Jean-Laurent; Munnich, Arnold; Cormier-Daire, Valérie (December 2011). "Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome". Nature Genetics. 44 (1): 85–88. doi:10.1038/ng.1016. PMID22158539. S2CID13042633. Retrieved 11 July 2015.
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum
Ilse Meerschaut, Aude Beyens, Wouter Steyaert, Riet De Rycke, Katrien Bonte, Tine De Backer, Sandra Janssens, Joseph Panzer, Frank Plasschaert, Daniël De Wolf, Bert Callewaert
First published: 09 October 2019 https://doi.org/10.1002/ajmg.a.61377
A pilot clinical trial with losartan in Myhre syndrome
Gerarda Cappuccio, Martina Caiazza, Alessandro Roca, Daniela Melis, Antonella Iuliano, Gabor Matyas, Marta Rubino, Giuseppe Limongelli, Nicola Brunetti-Pierri
First published: 24 December 2020 https://doi.org/10.1002/ajmg.a.62019
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Le Goff, Carine; Mahaut, Clémentine; Abhyankar, Avinash; Le Goff, Wilfried; Serre, Valérie; Afenjar, Alexandra; Destrée, Anne; di Rocco, Maja; Héron, Delphine; Jacquemont, Sébastien; Marlin, Sandrine; Simon, Marleen; Tolmie, John; Verloes, Alain; Casanova, Jean-Laurent; Munnich, Arnold; Cormier-Daire, Valérie (December 2011). "Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome". Nature Genetics. 44 (1): 85–88. doi:10.1038/ng.1016. PMID22158539. S2CID13042633. Retrieved 11 July 2015.
orpha.net
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researchgate.net
Le Goff, Carine; Mahaut, Clémentine; Abhyankar, Avinash; Le Goff, Wilfried; Serre, Valérie; Afenjar, Alexandra; Destrée, Anne; di Rocco, Maja; Héron, Delphine; Jacquemont, Sébastien; Marlin, Sandrine; Simon, Marleen; Tolmie, John; Verloes, Alain; Casanova, Jean-Laurent; Munnich, Arnold; Cormier-Daire, Valérie (December 2011). "Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome". Nature Genetics. 44 (1): 85–88. doi:10.1038/ng.1016. PMID22158539. S2CID13042633. Retrieved 11 July 2015.
semanticscholar.org
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Le Goff, Carine; Mahaut, Clémentine; Abhyankar, Avinash; Le Goff, Wilfried; Serre, Valérie; Afenjar, Alexandra; Destrée, Anne; di Rocco, Maja; Héron, Delphine; Jacquemont, Sébastien; Marlin, Sandrine; Simon, Marleen; Tolmie, John; Verloes, Alain; Casanova, Jean-Laurent; Munnich, Arnold; Cormier-Daire, Valérie (December 2011). "Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome". Nature Genetics. 44 (1): 85–88. doi:10.1038/ng.1016. PMID22158539. S2CID13042633. Retrieved 11 July 2015.
