Veitia, Reiner Albert

Top Publications

Top Publications Authored or Co-Authored by "Veitia, Reiner Albert"

• Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

  American Journal of Human Genetics, Volume 77, No. 2, Year 2005, Citations 114
• Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

  Human Genetics, Volume 99, No. 5, Year 1997, Citations 102
• Functional evidence implicating FOXL2 in nonsyndromic premature ovarian failure and in the regulation of the transcription factor OSR2

  Journal of Medical Genetics, Volume 46, No. 7, Year 2009, Citations 65
• Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients

  Clinical Genetics, Volume 78, No. 2, Year 2010, Citations 57
• FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

  American Journal of Human Genetics, Volume 72, No. 2, Year 2003, Citations 21