Found: 15
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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
- Published in:
- Human Genetics, 2000, v. 106, n. 5, p. 538, doi. 10.1007/s004390050022
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- Article
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
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- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 85, doi. 10.1038/sj.ejhg.5200915
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- Article
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 643, doi. 10.1038/sj.ejhg.5200858
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- Article
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).
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- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 367, doi. 10.1038/sj.ejhg.5200470
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- Article
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 1, p. 32, doi. 10.1038/sj.ejhg.5200150
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- Article
Prenatal diagnosis in CDG1 families: beware of heterogeneity.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 99, doi. 10.1038/sj.ejhg.5200161
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- Article
The Genomic Structure of the Murine α<sub>4</sub>, Integrin Gene.
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- DNA & Cell Biology, 1996, v. 15, n. 7, p. 595, doi. 10.1089/dna.1996.15.595
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- Article
Cloning and Characterization of the Promoter Region of the Murine Alpha-4 Integrin Subunit.
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- DNA & Cell Biology, 1994, v. 13, n. 7, p. 743, doi. 10.1089/dna.1994.13.743
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- Article
The prenatal diagnosis of congenital disorders of glycosylation (CDG).
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 2, p. 114, doi. 10.1002/pd.815
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- Article
Diagnostic DHPLC Quality Assurance (DDQA): A collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories.
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- Human Mutation, 2005, v. 25, n. 6, p. 583, doi. 10.1002/humu.20182
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- Article
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 5, p. 535, doi. 10.1093/hmg/ddh050
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- Article
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patientswith congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutasedeficiency.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 5, p. 599, doi. 10.1093/hmg/11.5.599
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- Article
Clinical and molecular genetic features of congenital spinal muscular atrophy.
- Published in:
- Annals of Neurology, 1996, v. 40, n. 5, p. 731, doi. 10.1002/ana.410400509
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- Article
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2ψ: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 2, p. 157, doi. 10.1093/hmg/7.2.157
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- Article
Congenital Disorders of Glycosylation (CDG): Update and Perspectives.
- Published in:
- Current Pediatric Reviews, 2006, v. 2, n. 4, p. 323, doi. 10.2174/157339606778699699
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- Article