Chondrodysplasia punctata with X;Y translocation

Heterogeneity of Chondrodysplasia punctata

1971 • 236 citations

A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides

1986 • 209 citations

Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

1984 • 188 citations

Chondrodysplasia punctata—23 cases of a mild and relatively common variety

1976 • 130 citations

Chondrodysplasia punctata — Rhizomelic form

1976 • 84 citations

Homologous genes for X-linked chondrodysplasia punctata in man and mouse

1983 • 63 citations

Dominant sex‐linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

1980 • 51 citations

Clinical and genetic aspects of Conradi-Hünermann disease

1980 • 50 citations

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation

1977 • 40 citations

Y to X translocation in man

1977 • 37 citations

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation

1983 • 30 citations

Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son

1980 • 26 citations

Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

1985 • 25 citations

Y-to-X chromosome translocation observed in two generations

1980 • 24 citations

Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature

1979 • 24 citations

Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers

1982 • 22 citations

Trisomy 9 mosaicism with punctate mineralization in developing cartilages

1979 • 19 citations

Subglottic pseudotumor, laryngeal dysplasia, and chondrodysplasia calcificans congenita with a t(D;B) chromosomal translocation.

1967 • 10 citations