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American Journal of Human Genetics|November 1, 1995
Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndromeM Muenke, L J Bone, H F Mitchell, et al.
Journal of Medical Genetics|January 24, 2007
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblastsD Haas, J Morgenthaler, F Lacbawan, et al.
American Journal of Medical Genetics|December 15, 1991
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndromeM Muenke, E D Ruchelli, L B Rorke, et al.
American Journal of Human Genetics|August 27, 1998
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domainK Gaudenz, E Roessler, N Quaderi, et al.
Nature Genetics|December 1, 1993
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomesC Tyler-Smith, R J Oakey, Z Larin, et al.
Nature Genetics|June 3, 2000
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determinationK W Gripp, D Wotton, M C Edwards, et al.
AJNR. American Journal of Neuroradiology|September 3, 1998
Imaging studies in a unique familial dysmyelinating disorderK W Gripp, R A Zimmerman, Z J Wang, et al.
The Journal of Pediatrics|May 15, 1998
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3K W Gripp, D M McDonald-McGinn, K Gaudenz, et al.
American Journal of Human Genetics|April 1, 1995
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6G J Feldman, N H Robin, L A Brueton, et al.
Clinical Genetics|June 26, 2002
Attention-deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigreesM Arcos-Burgos, F X Castellanos, F Lopera, et al.
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