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American Journal of Ophthalmology|September 1, 1982
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndromeH M Hittner, R A King, V M Riccardi, et al.
Prenatal Diagnosis|November 1, 1996
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal originK J Paulyson, D M Sherer, S L Christian, et al.
American Journal of Human Genetics|August 1, 1995
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombinationJ L Blouin, D H Christie, A Gos, et al.
American Journal of Medical Genetics|December 2, 1996
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndromeT Kubota, J S Sutcliffe, S Aradhya, et al.
American Journal of Medical Genetics|April 11, 2000
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyeloceleD Kennedy, M M Silver, E J Winsor, et al.
Human Genetics|January 1, 1997
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomesB Huang, J A Crolla, S L Christian, et al.
The Journal of Pediatrics|January 8, 1999
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitusS L Christian, B H Rich, C Loebl, et al.
Cytogenetics and Cell Genetics|January 1, 1991
Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1R G Taylor, J García-Heras, S J Sadler, et al.
Journal of Medical Genetics|October 4, 2005
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilitiesJ B Ravnan, J H Tepperberg, P Papenhausen, et al.
Genomics|November 20, 1995
LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2O Reiner, I Bar-Am, T Sapir, et al.
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