Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.
about
Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.Medical genetics in South AfricaInherited partial X chromosome duplication in a mentally retarded maleIsodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern.De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2)Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination.A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.Partial disomy of Xp and the presence of SRY in a phenotypic female.Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic errorInactivation centers in the human X chromosome.The role of sex chromosomes in mammalian germ cell differentiation: can the germ cells carrying X and Y chromosomes differentiate into fertile oocytes?Translational genetics for diagnosis of human disorders of sex developmentMultigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?
P2860
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P2860
Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.
description
1980 nî lūn-bûn
@nan
1980 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
name
Female phenotype and multiple ...... n and Xg blood group findings.
@ast
Female phenotype and multiple ...... n and Xg blood group findings.
@en
type
label
Female phenotype and multiple ...... n and Xg blood group findings.
@ast
Female phenotype and multiple ...... n and Xg blood group findings.
@en
prefLabel
Female phenotype and multiple ...... n and Xg blood group findings.
@ast
Female phenotype and multiple ...... n and Xg blood group findings.
@en
P2093
P2860
P1476
Female phenotype and multiple ...... n and Xg blood group findings.
@en
P2093
Bernstein R
Wachtel SS
P2860
P304
P407
P577
1980-08-01T00:00:00Z