PMC Links for Books (Select 4395580) - PMC

Select item 104425101.

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

Dimuthu Alankarage, Annabelle Enriquez, Robert D Steine, Cathy Raggio, Megan Higgins, Di Milnes, David T Humphreys, Emma L Duncan, Duncan B Sparrow, Philip F Giampietro, Gavin Chapman, Sally L Dunwoodie

Differentiation. Author manuscript; available in PMC 2023 Aug 22.

Published in final edited form as: Differentiation. 2022 Nov-Dec; 128: 1–12. Published online 2022 Sep 24. doi: 10.1016/j.diff.2022.09.002

PMCID:: PMC10442510

Abstract Article PDF–1.6M

Select item 93386572.

Natural history of Myhre syndrome

David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire

Orphanet J Rare Dis. 2022; 17: 304. Published online 2022 Jul 30. doi: 10.1186/s13023-022-02447-x

PMCID:: PMC9338657

Abstract Article PDF–1.3M

Select item 78983443.

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

Am J Med Genet A. 2021 Mar; 185(3): 702–709. Published online 2020 Dec 24. doi: 10.1002/ajmg.a.62019

PMCID:: PMC7898344

Abstract Article PDF–1.8M

Select item 47319254.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45447535.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 42004236.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S Brooks, Philippe M Campeau, Anne Destree, Maja Di Rocco, Dian Donnai, Raoul Hennekam, Delphine Heron, Sébastien Jacquemont, Peter Kannu, Angela E Lin, Sylvie Manouvrier-Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas-Rothschild, Marlène Rio, Marleen Simon, Irene Stolte-Dijkstra, James R Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloes, Arnold Munnich, Valérie Cormier-Daire

Eur J Hum Genet. 2014 Nov; 22(11): 1272–1277. Published online 2014 Jan 15. doi: 10.1038/ejhg.2013.288

Correction in:: Eur J Hum Genet. 2014 Nov; 22(11): 1340.

PMCID:: PMC4200423

Abstract Article PDF–937K

Select item 40075287.

SMAD4 Loss triggers the phenotypic changes of pancreatic ductal adenocarcinoma cells

Yu-Wen Chen, Pi-Jung Hsiao, Ching-Chieh Weng, Kung-Kai Kuo, Tzu-Lei Kuo, Deng-Chyang Wu, Wen-Chun Hung, Kuang-Hung Cheng

BMC Cancer. 2014; 14: 181. Published online 2014 Mar 14. doi: 10.1186/1471-2407-14-181

PMCID:: PMC4007528

Abstract Article PDF–3.0M

Select item 39849018.

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

Pasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, John Tolmie, Daniela Melis, Maria Cristina Schiaffino, Mirella Filocamo, Generoso Andria, Nicola Brunetti-Pierri

Eur J Hum Genet. 2014 Aug; 22(8): 988–994. Published online 2014 Jan 8. doi: 10.1038/ejhg.2013.283

PMCID:: PMC3984901

Abstract Article PDF–4.2M

Select item 32577499.

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia

Am J Hum Genet. 2012 Jan 13; 90(1): 161–169. doi: 10.1016/j.ajhg.2011.12.011

PMCID:: PMC3257749

Abstract Article PDF–617K

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