Výsledky vyhledávání - "E J, Björck"

Genetic variation in ICF syndrome: evidence for genetic heterogeneity

Autor: C, Wijmenga, R S, Hansen, G, Gimelli, E J, Björck, E G, Davies, D, Valentine, B H, Belohradsky, J J, van Dongen, D F, Smeets, L P, van den Heuvel, J A, Luyten, E, Strengman, C, Weemaes, P L, Pearson

Publikováno v: Human mutation. 16(6)

ICF syndrome is a rare autosomal recessive immunoglobulin deficiency, sometimes combined with defective cellular immunity. Other features that are frequently observed in ICF syndrome patients include facial dysmorphism, developmental delay, and recur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c3b537966b7d9ce467fa46279723a232
https://pubmed.ncbi.nlm.nih.gov/11102980

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Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q)

Autor: E J, Björck, B M, Anderlid, E, Blennow

Publikováno v: American journal of medical genetics. 87(1)

We describe a 34-year-old healthy woman with isochromosomes for the short and long arm of chromosome 9 who was ascertained because of repeated spontaneous abortions. Molecular analysis demonstrated maternal uniparental isodisomy for the whole chromos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7c5cf12c97992978fc5328ad1449c151
https://pubmed.ncbi.nlm.nih.gov/10528247

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