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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1997 | 1 |
1998 | 1 |
2002 | 1 |
2003 | 1 |
2011 | 1 |
2014 | 1 |
2015 | 1 |
2017 | 1 |
2024 | 0 |
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7 results
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Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E.
Matthijs G, et al.
Nat Genet. 1997 May;16(1):88-92. doi: 10.1038/ng0597-88.
Nat Genet. 1997.
PMID: 9140401
Item in Clipboard
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A.
Barone R, et al.
J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30.
J Neurol. 2015.
PMID: 25355454
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Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J.
Matthijs G, et al.
Am J Hum Genet. 1998 Mar;62(3):542-50. doi: 10.1086/301763.
Am J Hum Genet. 1998.
PMID: 9497260
Free PMC article.
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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH.
Westphal V, et al.
Hum Mol Genet. 2002 Mar 1;11(5):599-604. doi: 10.1093/hmg/11.5.599.
Hum Mol Genet. 2002.
PMID: 11875054
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Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T.
Neumann LM, et al.
Eur J Pediatr. 2003 Oct;162(10):710-3. doi: 10.1007/s00431-003-1278-8. Epub 2003 Aug 2.
Eur J Pediatr. 2003.
PMID: 12905014
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The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
Pérez B, Briones P, Quelhas D, Artuch R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C.
Pérez B, et al.
JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22.
JIMD Rep. 2011.
PMID: 23430838
Free PMC article.
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