Johnson D - Search Results

1

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V. El Hokayem J, et al. Among authors: johnson d. J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717. J Med Genet. 2012. PMID: 22499340

2

A gene for familial venous malformations maps to chromosome 9p in a second large kindred.

Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML, et al. Gallione CJ, et al. Among authors: johnson dw. J Med Genet. 1995 Mar;32(3):197-9. doi: 10.1136/jmg.32.3.197. J Med Genet. 1995. PMID: 7783168 Free PMC article.

3

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA. Berg JN, et al. Among authors: johnson dw. Am J Hum Genet. 1997 Jul;61(1):60-7. doi: 10.1086/513903. Am J Hum Genet. 1997. PMID: 9245985 Free PMC article.

4

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

5

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. Among authors: johnson dw. 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

6

Role of subunit-9 of mitochondrial ATP synthase in Batten disease.

Johnson DW, Speier S, Qian WH, Lane S, Cook A, Suzuki K, Daniel P, Boustany RM. Johnson DW, et al. Am J Med Genet. 1995 Jun 5;57(2):350-60. doi: 10.1002/ajmg.1320570250. Am J Med Genet. 1995. PMID: 7668362

7

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al. McAllister KA, et al. Among authors: johnson dw. Nat Genet. 1994 Dec;8(4):345-51. doi: 10.1038/ng1294-345. Nat Genet. 1994. PMID: 7894484

8

Duration, course and caregiver burden of croup in children: two observational cohorts.

Bjornson CL, Nettel-Aguirre A, Williamson J, Johnson DW. Bjornson CL, et al. Among authors: johnson dw. BMJ Open. 2024 Dec 23;14(12):e080102. doi: 10.1136/bmjopen-2023-080102. BMJ Open. 2024. PMID: 39719296 Free article.

9

Effects of pre-experimental fasting and sheltering on the swimming performance and oxygen consumption of juvenile grass carp (Ctenopharyngodon idella).

Ali MH, Huang YP, Johnson D, Li WM, Yuan X. Ali MH, et al. Among authors: johnson d. J Fish Biol. 2024 Dec 23. doi: 10.1111/jfb.16034. Online ahead of print. J Fish Biol. 2024. PMID: 39715080

10

CSF1-R inhibition attenuates posttraumatic osteoarthritis and quadriceps atrophy following ligament injury.

Keeble AR, Thomas NT, Balawender PJ, Brightwell CR, Gonzalez-Velez S, O'Daniel MG, Conley CE, Stone AV, Johnson DL, Noehren B, Jacobs CA, Fry CS, Owen AM. Keeble AR, et al. Among authors: johnson dl. J Physiol. 2024 Dec 22. doi: 10.1113/JP286815. Online ahead of print. J Physiol. 2024. PMID: 39709528

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