Výsledky vyhledávání - "Kathleen Brierley"

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype

Autor: J E Allanson, Kathleen Brierley, Jean McGowan-Jordan, Linlea Armstrong

Publikováno v: American Journal of Medical Genetics. :71-76

The relationship between phenotype and Xq duplications in females remains unclear. Some females are normal; some have short stature; and others have features such as microcephaly, developmental delay/mental retardation, body asymmetries, and gonadal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774e343184a20c37c7f3fd360772df2a
https://doi.org/10.1002/ajmg.a.10727

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Minute chromatin structures in cells of amniotic fluid—an interpretative dilemma

Autor: Alasdair G. W. Hunter, Judith L. Bellinger, Hungshu Wang, Kathleen Brierley, Claire Goldsmith, Laura E. Dawson

Publikováno v: Prenatal Diagnosis. 14:868-872

Single copies of tiny chromosome fragments, appearing either as single or as double minutes, were observed in a high frequency in amniotic fluid cultures of five mothers who underwent prenatal testing because of advanced age. In four cases, the minut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::741349c52a231e44c4301477e225d01e
https://doi.org/10.1002/pd.1970140917

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