Results 171 to 180 of about 8,531 (188)
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Discordance Between Germline and Blood Mosaicism in Calmodulinopathy
Circulation: Genomic and Precision Medicine, 2022Zahurul A. Bhuiyan +4 more
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2009
Confined placental mosaicism (CPM) is detected in approximately 1-2% of viable pregnancies and has been defined as a dichotomy between the chromosomal constitution of the placental and embryonic/fetal tissues. An investigation for the presence of trisomy in the germ cells was initiated in cases diagnosed with CPM since we suspect that the stroma of the
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Confined placental mosaicism (CPM) is detected in approximately 1-2% of viable pregnancies and has been defined as a dichotomy between the chromosomal constitution of the placental and embryonic/fetal tissues. An investigation for the presence of trisomy in the germ cells was initiated in cases diagnosed with CPM since we suspect that the stroma of the
openaire +1 more source
Germline mosaicism complicates molecular diagnosis of Lesch–Nyhan syndrome
Prenatal Diagnosis, 2004AbstractA healthy female with a brother suffering from Lesch–Nyhan syndrome was assigned a carrier status on the basis of haplotype analysis employing flanking and intragenic polymorphic markers of the HPRT gene. Her mother has been confirmed as a definite carrier by cell growth selection studies in cultured fibroblasts.
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[Germline mosaicism in a family with Duchenne muscular dystrophy].
Medycyna wieku rozwojowego, 2000In families with Duchenne/Becker muscular dystrophy, DNA analysis allows direct detection of the sex-linked dystrophy gene mutation. The detection of two alleles (heterozygous) in the region of a deletion in an affected son, excludes the mother having the same deletion.
J G, Zimowski, M, Bisko, J, Zaremba
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Modern developments in germline pharmacogenomics for oncology prescribing
Ca-A Cancer Journal for Clinicians, 2022Natalie Reizine, Peter O'Donnell
exaly
Germinal ?mosaicism? ? germline mutation or chimerism?
Human Genetics, 1992openaire +2 more sources
Germline mosaicism is a pitfall in the diagnosis of “sporadic” X-linked Alport syndrome
Journal of Nephrology, 2018Kandai Nozu +2 more
exaly