Výsledky vyhledávání - "J D, Ranells"

Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX

Autor: M J, Sutcliffe, O T, Mueller, B G, Kousseff, D P, Dumont, J A, McFarland, F, Mawani, D, Conforto, J D, Ranells

Publikováno v: American journal of medical genetics. 102(2)

We report on a 3.5-year-old girl with a mosaic karyotype including full trisomy 18, normal cells and a majority of cells with partial trisomy involving an extra chromosome 18 deleted at band q22. She had cardiac and CNS anomalies, dysmorphic facial f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2f9d308fd43aff256664aa69156b4ba0
https://pubmed.ncbi.nlm.nih.gov/11477615

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Autism in association with fragile X syndrome in females: implications for diagnosis and treatment in children

Autor: D R, Edwards, L D, Keppen, J D, Ranells, S M, Gollin

Publikováno v: Neurotoxicology. 9(3)

Fragile X syndrome is the second most common chromosomal cause of mental retardation (MR). The calculated incidence is 1/1000, making accurate and early diagnosis important for specific preventive, pharmacologic, and cognitive treatment. The timely d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a0b55f4f189828a52fa752002ed57346
https://pubmed.ncbi.nlm.nih.gov/3200505

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