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Page 1
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. Stray-Pedersen A, et al. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.
Primary immunodeficiency diseases in Norway.
Stray-Pedersen A, Abrahamsen TG, Frøland SS. Stray-Pedersen A, et al. J Clin Immunol. 2000 Nov;20(6):477-85. doi: 10.1023/a:1026416017763. J Clin Immunol. 2000. PMID: 11202238
[Patients with severe chronic neutropenia].
Amundsen HF, Stray-Pedersen A, Tjønnfjord GE, Abrahamsen TG. Amundsen HF, et al. Tidsskr Nor Laegeforen. 2003 Mar 6;123(5):621-3. Tidsskr Nor Laegeforen. 2003. PMID: 12683187 Free article. Norwegian. No abstract available.
[Chronic neutropenia--subtypes and treatment].
Amundsen HF, Stray-Pedersen A, Tjønnfjord GE, Abrahamsen TG. Amundsen HF, et al. Tidsskr Nor Laegeforen. 2003 Mar 6;123(5):624-6. Tidsskr Nor Laegeforen. 2003. PMID: 12683188 Review. Norwegian. No abstract available.
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF. Clewing JM, et al. Hum Mutat. 2007 Mar;28(3):273-83. doi: 10.1002/humu.20432. Hum Mutat. 2007. PMID: 17089404
Alpha fetoprotein is increasing with age in ataxia-telangiectasia.
Stray-Pedersen A, Borresen-Dale AL, Paus E, Lindman CR, Burgers T, Abrahamsen TG. Stray-Pedersen A, et al. Eur J Paediatr Neurol. 2007 Nov;11(6):375-80. doi: 10.1016/j.ejpn.2007.04.001. Epub 2007 May 30. Eur J Paediatr Neurol. 2007. PMID: 17540590
126 results