Latest papers

Female predominance and X chromosome defects in autoimmune diseases.

Live offspring from mice lacking the Y chromosome long arm gene complement.

Future directions in genetic for autoimmune diseases.

Array comparative genomic hybridization analysis of heritable Xp deletion.

Aneuploidy in abortuses following IVF and ICSI.

[A fragile writer. FTXA (fragile X associated tremor ataxia syndrome)].

Identification of sex chromosome mosaicism: is analysis of 20 metaphase cells sufficient?

Unilateral microtia in an infant with trisomy 18 mosaicism.

Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism.

Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.

Analysis of the SRY gene in a girl with 45,X/46,XY genotype.

Numerical sex chromosome aberrations and abnormal sex development in horse and sheep.

Turner syndrome and 45,X/47,XXX mosaicism.

The clinical effects of isochromosome Xq in Klinefelter syndrome: report of a case and review of literature.

Targeting the X chromosome during spermatogenesis induces Y chromosome transmission ratio distortion and early dominant embryo lethality in Anopheles gambiae.

Aicardi syndrome in a genotypic male.

Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss.

Prenatal diagnosis and prenatal imaging of a de novo 46,X,der(Y)t(X;Y)(p22.13;q11.23) leading to functional disomy for the distal end of the X chromosome short arm from Xp22.13 in a phenotypically male fetus with posterior fossa abnormalities.

[Primary amenorrhea and XY karyotype: identifying patients in risk]

Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.