Similar articles for PMID: 12700602

Year	Number of Results
1996	1
1997	1
1998	1
1999	2
2000	2
2002	3
2003	5
2004	8
2005	5
2006	4
2007	4
2008	3
2009	3
2011	2
2013	1
2024	0

1

Disease-associated mutations in conserved residues of ALK-1 kinase domain.

Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M. Abdalla SA, et al. Eur J Hum Genet. 2003 Apr;11(4):279-87. doi: 10.1038/sj.ejhg.5200919. Eur J Hum Genet. 2003. PMID: 12700602

2

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.

Klaus DJ, Gallione CJ, Anthony K, Yeh EY, Yu J, Lux A, Johnson DW, Marchuk DA. Klaus DJ, et al. Hum Mutat. 1998;12(2):137. doi: 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU16>3.0.CO;2-J. Hum Mutat. 1998. PMID: 10694922

3

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK. Letteboer TG, et al. Hum Genet. 2005 Jan;116(1-2):8-16. doi: 10.1007/s00439-004-1196-5. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517393

4

[Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene].

Xie BS, Xie S, Chen P, Zhu MY, Zheng JY, Wang XF, Fu QH, Zhou RF, Wang WB, Wu WM, Ding QL, Wang HL, Hu LM. Xie BS, et al. Zhonghua Xue Ye Xue Za Zhi. 2004 Sep;25(9):536-9. Zhonghua Xue Ye Xue Za Zhi. 2004. PMID: 15569532 Chinese.

5

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M. Abdalla SA, et al. Hum Mol Genet. 2000 May 1;9(8):1227-37. doi: 10.1093/hmg/9.8.1227. Hum Mol Genet. 2000. PMID: 10767348

6

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC. Harrison RE, et al. J Med Genet. 2003 Dec;40(12):865-71. doi: 10.1136/jmg.40.12.865. J Med Genet. 2003. PMID: 14684682 Free PMC article.

7

[Analysis of genetic mutation and modifier genes in pulmonary arterial hypertension].

Fujiwara M, Yagi H, Matsuoka R, Saji T. Fujiwara M, et al. Nihon Rinsho. 2008 Nov;66(11):2071-5. Nihon Rinsho. 2008. PMID: 19051722 Review. Japanese.

8

Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.

Assis AM, Costa FF, Arruda VR, Annichino-Bizzacchi JM, Bertuzzo CS. Assis AM, et al. J Hum Genet. 2007;52(3):237-243. doi: 10.1007/s10038-006-0104-3. Epub 2007 Jan 12. J Hum Genet. 2007. PMID: 17219009

9

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. Gao HZ, et al. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590

10

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA. Johnson DW, et al. Nat Genet. 1996 Jun;13(2):189-95. doi: 10.1038/ng0696-189. Nat Genet. 1996. PMID: 8640225

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