PubMed (OMIM) for id: 167103

Year	Number of Results
1981	1
1983	1
1993	1
1995	1
1996	6
1997	1
1998	9
1999	1
2000	1
2001	1
2002	7
2003	3
2004	3
2023	0

1

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, Mitros FA, Vaccaro CA, Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. Howe JR, et al. J Med Genet. 2004 Jul;41(7):484-91. doi: 10.1136/jmg.2004.018598. J Med Genet. 2004. PMID: 15235019 Free PMC article.

2

Second female case of Myhre syndrome.

Lopez-Cardona MG, Garcia-Cruz D, Garcia-Ortiz JE, Davalos NO, Feria-Velasco A, Rodriguez-Rojas LX, Garcia-Cruz MO, Figuera-Villanueva LE, Stephens A, Larios-Arceo F, Sanchez-Corona J. Lopez-Cardona MG, et al. Clin Dysmorphol. 2004 Apr;13(2):91-94. Clin Dysmorphol. 2004. PMID: 15057124

3

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. Gallione CJ, et al. Lancet. 2004 Mar 13;363(9412):852-9. doi: 10.1016/S0140-6736(04)15732-2. Lancet. 2004. PMID: 15031030

4

Myhre syndrome: first female case.

Dávalos NO, García-Ortiz JE, García-Cruz D, Feria-Velasco A, Sánchez-Corona J. Dávalos NO, et al. Clin Dysmorphol. 2003 Apr;12(2):119-21. doi: 10.1097/00019605-200304000-00009. Clin Dysmorphol. 2003. PMID: 12868475

5

Myhre syndrome: new reports, review, and differential diagnosis.

Burglen L, Héron D, Moerman A, Dieux-Coeslier A, Bourguignon JP, Bachy A, Carel JC, Cormier-Daire V, Manouvrier S, Verloes A. Burglen L, et al. J Med Genet. 2003 Jul;40(7):546-51. doi: 10.1136/jmg.40.7.546. J Med Genet. 2003. PMID: 12843331 Free PMC article. Review. No abstract available.

6

Role of Smad4 (DPC4) inactivation in human cancer.

Miyaki M, Kuroki T. Miyaki M, et al. Biochem Biophys Res Commun. 2003 Jul 11;306(4):799-804. doi: 10.1016/s0006-291x(03)01066-0. Biochem Biophys Res Commun. 2003. PMID: 12821112 Review.

7

Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TGF-beta signaling.

Wu JW, Krawitz AR, Chai J, Li W, Zhang F, Luo K, Shi Y. Wu JW, et al. Cell. 2002 Nov 1;111(3):357-67. doi: 10.1016/s0092-8674(02)01006-1. Cell. 2002. PMID: 12419246 Free article.

8

Nucleocytoplasmic shuttling of Smads 2, 3, and 4 permits sensing of TGF-beta receptor activity.

Inman GJ, Nicolás FJ, Hill CS. Inman GJ, et al. Mol Cell. 2002 Aug;10(2):283-94. doi: 10.1016/s1097-2765(02)00585-3. Mol Cell. 2002. PMID: 12191474 Free article.

9

E2F4/5 and p107 as Smad cofactors linking the TGFbeta receptor to c-myc repression.

Chen CR, Kang Y, Siegel PM, Massagué J. Chen CR, et al. Cell. 2002 Jul 12;110(1):19-32. doi: 10.1016/s0092-8674(02)00801-2. Cell. 2002. PMID: 12150994 Free article.

10

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

Friedl W, Uhlhaas S, Schulmann K, Stolte M, Loff S, Back W, Mangold E, Stern M, Knaebel HP, Sutter C, Weber RG, Pistorius S, Burger B, Propping P. Friedl W, et al. Hum Genet. 2002 Jul;111(1):108-11. doi: 10.1007/s00439-002-0748-9. Epub 2002 Jun 13. Hum Genet. 2002. PMID: 12136244

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