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Items: 1 to 20 of 211

1.

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.

Plante M, Claveau S, Lepage P, Lavoie EM, Brunet S, Roquis D, Morin C, Vézina H, Laprise C.

Clin Genet. 2008 Mar;73(3):236-44. doi: 10.1111/j.1399-0004.2007.00954.x. Epub 2008 Jan 7.

PMID:
18190596
3.

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.

Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x.

PMID:
19659762
4.

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N.

J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6.

PMID:
19197337
5.

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.

Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, Burin MG, Ribeiro EM, Lourenço CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV.

Gene. 2013 Jul 15;524(1):59-64. doi: 10.1016/j.gene.2013.03.105. Epub 2013 Apr 6.

6.

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S.

Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29.

PMID:
20880125
7.

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.

Liu S, Zhang W, Shi H, Meng Y, Qiu Z.

Gene. 2014 Feb 10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6.

PMID:
24316125
8.

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.

Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK.

Hum Mutat. 2005 Oct;26(4):308-14.

PMID:
16116615
9.

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G.

Hum Mutat. 2001 May;17(5):397-402.

PMID:
11317355
10.

Population genetics of vitamin D-dependent rickets in northeastern Quebec.

De Braekeleer M, Larochelle J.

Ann Hum Genet. 1991 Oct;55(Pt 4):283-90.

PMID:
1687883
11.

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A.

Mol Genet Metab. 2006 Aug;88(4):359-63. Epub 2006 Apr 21. Erratum in: Mol Genet Metab. 2007 Jul;91(3):299.

PMID:
16630736
13.

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M.

J Med Genet. 2004 Apr;41(4):e52. No abstract available.

14.

A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

Paton L, Bitoun E, Kenyon J, Priestman DA, Oliver PL, Edwards B, Platt FM, Davies KE.

J Biol Chem. 2014 Sep 26;289(39):26709-21. doi: 10.1074/jbc.M114.586156. Epub 2014 Aug 8.

15.

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.

De Braekeleer M, Giasson F, Mathieu J, Roy M, Bouchard JP, Morgan K.

Genet Epidemiol. 1993;10(1):17-25.

PMID:
8472930
16.
17.

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T.

Biochim Biophys Acta. 2009 Mar;1792(3):221-5. doi: 10.1016/j.bbadis.2009.01.009.

18.

Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.

Zarghooni M, Dittakavi SS.

Am J Med Genet A. 2009 Dec;149A(12):2753-61. doi: 10.1002/ajmg.a.33134.

PMID:
19938078
19.

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

De Braekeleer M, Larochelle J.

Am J Hum Genet. 1990 Aug;47(2):302-7.

20.

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson BH, De Braekeleer M.

Am J Hum Genet. 1993 Aug;53(2):488-96.

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