Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

David F. Barker, Sirkka Liisa Hostikka, Jing Zhou et al. · Science · 1990 · 881 citations

Medicine, Genetics, Molecular Genetics +17

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

Toshio Mochizuki, Henny H. Lemmink, Mariko Mariyama et al. · Nature Genetics · 1994 · 515 citations

Life Sciences, Genetics, Molecular Genetics +9

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

The American Journal of Human Genetics · 2001 · 181 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Chromosome 21 Disomy in the Spermatozoa of the Fathers of Children with Trisomy 21, in a Population with a High Prevalence of Down Syndrome: Increased Incidence in Cases of Paternal Origin

Joan Blanco, Elisabeth Gabau, David Gómez et al. · The American Journal of Human Genetics · 1998 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome

Brenda Eskenazi, Andrew J. Wyrobek, Sharon A. Kidd et al. · Human Reproduction · 2002 · 152 citations

Life Sciences, Genetics, Molecular Genetics +14