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Items: 9

1.

Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.

Severino M, Bertamino M, Tortora D, Morana G, Uccella S, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M.

J Med Genet. 2016 Dec;53(12):859-864. doi: 10.1136/jmedgenet-2016-104076. Epub 2016 Aug 26.

PMID:
27565519
2.

Negative and positive auto-regulation of BMP expression in early eye development.

Huang J, Liu Y, Filas B, Gunhaga L, Beebe DC.

Dev Biol. 2015 Nov 15;407(2):256-64. doi: 10.1016/j.ydbio.2015.09.009. Epub 2015 Sep 25.

3.

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C; FORGE Canada Consortium, Majewski J, Boycott KM, Graham G, Bromwich M.

Am J Med Genet A. 2015 Jun;167(6):1337-41. doi: 10.1002/ajmg.a.36969. Epub 2015 Apr 21.

PMID:
25899773
4.

Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature.

Al-Haggar M, Ahmad N, Yahia S, Shams A, Hasaneen B, Hassan Hassan R, Wahba Y, Salem NA, Abdel-Hady D.

Case Rep Genet. 2013;2013:834605. doi: 10.1155/2013/834605. Epub 2013 Jan 23.

5.

Self-regulation of the head-inducing properties of the Spemann organizer.

Inui M, Montagner M, Ben-Zvi D, Martello G, Soligo S, Manfrin A, Aragona M, Enzo E, Zacchigna L, Zanconato F, Azzolin L, Dupont S, Cordenonsi M, Piccolo S.

Proc Natl Acad Sci U S A. 2012 Sep 18;109(38):15354-9. Epub 2012 Sep 4.

6.

Recurrent copy number gains of ACVR1 and corresponding transcript overexpression are associated with survival in head and neck squamous cell carcinomas.

Ambrosio EP, Drigo SA, BĂ©rgamo NA, Rosa FE, Bertonha FB, de Abreu FB, Kowalski LP, Rogatto SR.

Histopathology. 2011 Jul;59(1):81-9. doi: 10.1111/j.1365-2559.2011.03885.x. Epub 2011 Jun 13.

PMID:
21668474
7.

Craniofacial findings in fibrodysplasia ossificans progressiva: computerized tomography evaluation.

Carvalho DR, Farage L, Martins BJ, Speck-Martins CE.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 Apr;111(4):499-502. doi: 10.1016/j.tripleo.2010.12.002.

PMID:
21420641
8.

Fibrodysplasia ossificans progressiva (FOP): watch the great toes!

Kartal-Kaess M, Shore EM, Xu M, Schwering L, Uhl M, Korinthenberg R, Niemeyer C, Kaplan FS, Lauten M.

Eur J Pediatr. 2010 Nov;169(11):1417-21. doi: 10.1007/s00431-010-1232-5. Epub 2010 Jun 26.

9.

A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.

Sun Y, Xia W, Jiang Y, Xing X, Li M, Wang O, Zhang H, Hu Y, Liu H, Meng X, Zhou X.

Calcif Tissue Int. 2009 May;84(5):361-5. doi: 10.1007/s00223-009-9235-9. Epub 2009 Mar 20.

PMID:
19300893

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