PubMed for id: 167103

Year	Number of Results
1988	1
1992	1
1993	2
2001	2
2002	2
2003	1
2004	1
2005	2
2007	1
2008	1
2011	3
2012	4
2013	1
2014	6
2015	4
2016	4
2017	3
2018	1
2019	5
2020	7
2021	8
2022	10
2023	5

1

Myhre syndrome: expanding its paediatric phenotypic spectrum.

Brunet-Garcia L, Prada Martínez FH, Carretero Bellon JM. Brunet-Garcia L, et al. Cardiol Young. 2023 Nov;33(11):2408-2410. doi: 10.1017/S1047951123001592. Epub 2023 Jun 16. Cardiol Young. 2023. PMID: 37325812

2

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).

Demir Ş, Alavanda C, Yeşil G, Aslanger AD, Ateş EA. Demir Ş, et al. Mol Syndromol. 2023 Apr;14(2):175-180. doi: 10.1159/000527149. Epub 2023 Jan 13. Mol Syndromol. 2023. PMID: 37064342 Free PMC article.

3

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.

Yang K, Wang X, Wang WQ, Han MY, Hu LM, Kang DY, Yang JY, Liu M, Gao X, Yuan YY, Xu JC. Yang K, et al. Mol Genet Genomic Med. 2023 Mar;11(3):e2103. doi: 10.1002/mgg3.2103. Epub 2022 Nov 14. Mol Genet Genomic Med. 2023. PMID: 36373990 Free PMC article. Review.

4

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

Alankarage D, Enriquez A, Steiner RD, Raggio C, Higgins M, Milnes D, Humphreys DT, Duncan EL, Sparrow DB, Giampietro PF, Chapman G, Dunwoodie SL. Alankarage D, et al. Differentiation. 2022 Nov-Dec;128:1-12. doi: 10.1016/j.diff.2022.09.002. Epub 2022 Sep 24. Differentiation. 2022. PMID: 36194927 Free PMC article.

5

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

Starr LJ, Lindsay ME, Perry D, Gheewalla G, VanderLaan PA, Majid A, Strange C, Costea GC, Lungu A, Lin AE. Starr LJ, et al. Pediatr Dev Pathol. 2022 Nov-Dec;25(6):611-623. doi: 10.1177/10935266221079569. Epub 2022 Sep 17. Pediatr Dev Pathol. 2022. PMID: 36120950

6

Natural history of Myhre syndrome.

Yang DD, Rio M, Michot C, Boddaert N, Yacoub W, Garcelon N, Thierry B, Bonnet D, Rondeau S, Herve D, Guey S, Angoulvant F, Cormier-Daire V. Yang DD, et al. Orphanet J Rare Dis. 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x. Orphanet J Rare Dis. 2022. PMID: 35907855 Free PMC article.

7

First documented case of Myhre syndrome in Romania: A case report.

Cătană A, Simonescu-Colan R, Cuzmici-Barabaș Z, Militaru D, Iordănescu I, Militaru MS. Cătană A, et al. Exp Ther Med. 2022 May;23(5):323. doi: 10.3892/etm.2022.11252. Epub 2022 Mar 10. Exp Ther Med. 2022. PMID: 35386616 Free PMC article.

8

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME, Lin AE. Cappuccio G, et al. Am J Med Genet A. 2022 May;188(5):1384-1395. doi: 10.1002/ajmg.a.62645. Epub 2022 Jan 13. Am J Med Genet A. 2022. PMID: 35025139

9

Benefit of cochlear implantation in a patient with Myhre syndrome.

Di Cesare T, Rossi G, Girotto G, Di Nardo W. Di Cesare T, et al. BMJ Case Rep. 2021 Aug 25;14(8):e243164. doi: 10.1136/bcr-2021-243164. BMJ Case Rep. 2021. PMID: 34433528 Free PMC article.

10

Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole.

Wu H, Wang X, Cui Y, Wang X. Wu H, et al. Front Pediatr. 2021 Jul 29;9:675934. doi: 10.3389/fped.2021.675934. eCollection 2021. Front Pediatr. 2021. PMID: 34395338 Free PMC article.

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