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The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.
N Engl J Med. 1992 Jun 11;326(24):1599-607. doi: 10.1056/NEJM199206113262404.
N Engl J Med. 1992.
PMID: 1584261
Free PMC article.
Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome.
Vgontzas AN, Kales A, Seip J, Mascari MJ, Bixler EO, Myers DC, Vela-Bueno AV, Rogan PK.
Vgontzas AN, et al. Among authors: mascari mj.
Am J Med Genet. 1996 Sep 20;67(5):478-82. doi: 10.1002/(SICI)1096-8628(19960920)67:5<478::AID-AJMG7>3.0.CO;2-G.
Am J Med Genet. 1996.
PMID: 8886165
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Daytime sleepiness and REM abnormalities in Prader-Willi syndrome: evidence of generalized hypoarousal.
Vgontzas AN, Bixler EO, Kales A, Centurione A, Rogan PK, Mascari M, Vela-Bueno A.
Vgontzas AN, et al.
Int J Neurosci. 1996 Nov;87(3-4):127-39. doi: 10.3109/00207459609070832.
Int J Neurosci. 1996.
PMID: 9003974
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Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
Ladda RL, Zonana J, Ramer JC, Mascari MJ, Rogan PK.
Ladda RL, et al. Among authors: mascari mj.
Am J Med Genet. 1993 Sep 15;47(4):550-5. doi: 10.1002/ajmg.1320470422.
Am J Med Genet. 1993.
PMID: 7504881
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Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.
Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, Butler MG.
Spritz RA, et al. Among authors: mascari mj.
Am J Med Genet. 1997 Jul 11;71(1):57-62. doi: 10.1002/(sici)1096-8628(19970711)71:1<57::aid-ajmg11>3.0.co;2-u.
Am J Med Genet. 1997.
PMID: 9215770
Free PMC article.
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Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.
Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, et al.
Puffenberger EG, et al.
Hum Mol Genet. 1994 Aug;3(8):1217-25. doi: 10.1093/hmg/3.8.1217.
Hum Mol Genet. 1994.
PMID: 7987295
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Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred.
Dow E, Cross S, Wolgemuth DJ, Lyonnet S, Mulligan LM, Mascari M, Ladda R, Williamson R.
Dow E, et al.
Am J Med Genet. 1994 Oct 15;53(1):75-80. doi: 10.1002/ajmg.1320530116.
Am J Med Genet. 1994.
PMID: 7802041
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