Prenatal diagnosis in CDG1 families: beware of heterogeneity

[1]  E. Schaftingen,et al.  Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. , 1998, American journal of human genetics.

[2]  N. Doggett,et al.  Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. , 1998, Human molecular genetics.

[3]  E. Pardon,et al.  Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) , 1997, Nature Genetics.

[4]  F. Skovby,et al.  Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families. , 1997, Genomics.

[5]  G. Matthijs,et al.  Carbohydrate deficient glycoprotein (CDG) syndrome type I. , 1997, Journal of medical genetics.

[6]  G. Matthijs,et al.  Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1). , 1996, Genomics.

[7]  Cécile Fizames,et al.  A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.

[8]  E. Schaftingen,et al.  Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I , 1995, FEBS letters.

[9]  F. Hanefeld,et al.  Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. , 1994, Human molecular genetics.

[10]  F. Skovby,et al.  Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. , 1994, Pediatric neurology.

[11]  C. Rodeck,et al.  Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus , 1993, The Lancet.

[12]  K. Takeshita,et al.  Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency. , 1993, The Journal of biological chemistry.

[13]  Y. Wada,et al.  Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. , 1992, Biochemical and biophysical research communications.

[14]  J. Jaeken,et al.  Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. , 1990, Archives of disease in childhood.

[15]  H. G. Eijk,et al.  Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. , 1984, Clinica chimica acta; international journal of clinical chemistry.