Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2001 | 1 |
2006 | 1 |
2007 | 1 |
2014 | 1 |
2016 | 1 |
2019 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 93183
6 results
Results by year
Filters applied: . Clear all
Page 1
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Mol Genet Metab. 2019 Sep-Oct;128(1-2):151-161. doi: 10.1016/j.ymgme.2019.08.003. Epub 2019 Aug 14.
Mol Genet Metab. 2019.
PMID: 31445883
Free PMC article.
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.
Makrythanasis P, et al.
Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17.
Am J Hum Genet. 2016.
PMID: 26996948
Free PMC article.
Item in Clipboard
Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
Costa JR, Caputo VS, Makarona K, Layton DM, Roberts IA, Almeida AM, Karadimitris A.
Costa JR, et al.
Blood. 2014 Nov 13;124(20):3151-4. doi: 10.1182/blood-2014-09-598813. Epub 2014 Oct 7.
Blood. 2014.
PMID: 25293775
Free PMC article.
Item in Clipboard
Targeted therapy for inherited GPI deficiency.
Almeida AM, Murakami Y, Baker A, Maeda Y, Roberts IA, Kinoshita T, Layton DM, Karadimitris A.
Almeida AM, et al.
N Engl J Med. 2007 Apr 19;356(16):1641-7. doi: 10.1056/NEJMoa063369.
N Engl J Med. 2007.
PMID: 17442906
Free article.
Item in Clipboard
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A.
Almeida AM, et al.
Nat Med. 2006 Jul;12(7):846-51. doi: 10.1038/nm1410. Epub 2006 Jun 11.
Nat Med. 2006.
PMID: 16767100
Item in Clipboard
PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER.
Maeda Y, Watanabe R, Harris CL, Hong Y, Ohishi K, Kinoshita K, Kinoshita T.
Maeda Y, et al.
EMBO J. 2001 Jan 15;20(1-2):250-61. doi: 10.1093/emboj/20.1.250.
EMBO J. 2001.
PMID: 11226175
Free PMC article.
Item in Clipboard
Cite
Cite