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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1991 2
1992 2
1993 3
1994 7
1995 4
1996 3
1997 4
1998 4
1999 2
2005 1
2007 1
2008 1
2012 1
2013 2
2014 4
2015 1
2016 1
2022 1
2024 0

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PubMed (cited) for id: 311770

41 results

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Page 1
Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.
Muckenthaler L, Marques O, Colucci S, Kunz J, Fabrowski P, Bast T, Altamura S, Höchsmann B, Schrezenmeier H, Langlotz M, Richter-Pechanska P, Rausch T, Hofmeister-Mielke N, Gunkel N, Hentze MW, Kulozik AE, Muckenthaler MU. Muckenthaler L, et al. Blood. 2022 Mar 3;139(9):1418-1422. doi: 10.1182/blood.2021013519. Blood. 2022. PMID: 34875027 Free PMC article. No abstract available.
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N. Kato M, et al. Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4. Neurology. 2014. PMID: 24706016
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM. van der Crabben SN, et al. Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259184 Review.
PIG-A mutations in normal hematopoiesis.
Hu R, Mukhina GL, Piantadosi S, Barber JP, Jones RJ, Brodsky RA. Hu R, et al. Blood. 2005 May 15;105(10):3848-54. doi: 10.1182/blood-2004-04-1472. Epub 2005 Feb 1. Blood. 2005. PMID: 15687243 Free PMC article.
41 results