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The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. Nanni L, et al. Among authors: pierpont me. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296
Familial occurrence of patent ductus arteriosus.
Sletten LJ, Pierpont ME. Sletten LJ, et al. Among authors: pierpont me. Am J Med Genet. 1995 May 22;57(1):27-30. doi: 10.1002/ajmg.1320570108. Am J Med Genet. 1995. PMID: 7645594 Review.
Variation in severity of cardiac disease in Holt-Oram syndrome.
Sletten LJ, Pierpont ME. Sletten LJ, et al. Among authors: pierpont me. Am J Med Genet. 1996 Oct 16;65(2):128-32. doi: 10.1002/(SICI)1096-8628(19961016)65:2<128::AID-AJMG9>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8911604 Review.
111 results