Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14).
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Smoking adversely affects survival in acute myeloid leukemia patients.
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Perinatal outcome in the live-born infant with prenatally diagnosed omphalocele.
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16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
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Female sex bias in human embryonic stem cell lines.
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Karyotype analysis and genetic variation of a mutant in Siraitia grosvenorii.
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Polled Intersex Syndrome with urethral atresia in a goat.
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A 5-day-old hornless goat was referred with dysuria since birth. The scrotum was absent, and a small penis-like structure was seen below the perineal raphe. On the laparotomy, the testicles were found near the inguinal ring- and attached to a uterus-like structure. On histological analysis, the uterus-like structure was blind-end. Germ cells were absent in the testis. The karyotype of this goat was 60, XX and the SRY gene was absent. The goat was homozygous for a DNA deletion responsible for the Polled Intersex Syndrome (PIS). To the authors' knowledge, this is the first report as the clinical case of the PIS-/- goat with urethral atresia. (+info)
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
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