Mascari M - Search Results

1

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. Among authors: mascari m. Hum Mol Genet. 1994 Aug;3(8):1217-25. doi: 10.1093/hmg/3.8.1217. Hum Mol Genet. 1994. PMID: 7987295

2

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. Among authors: mascari m. Am J Med Genet. 1994 Oct 15;53(1):75-80. doi: 10.1002/ajmg.1320530116. Am J Med Genet. 1994. PMID: 7802041

3

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

4

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA, Jeffreys AJ, Ladda RL, Nicholls RD. Mascari MJ, et al. 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.

5

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.

6

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

7

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. Among authors: mascari m. Int J Neurosci. 1996 Nov;87(3-4):127-39. doi: 10.3109/00207459609070832. Int J Neurosci. 1996. PMID: 9003974

8

Associations of Cord Blood Concentrations of Perfluoroalkyl Substances with Autistic Traits in Singaporean Children: The Growing Up in Singapore Towards Healthy Outcomes Study.

Mascari M, Cohen N, Yao M, Huang J, Lane J, Reeves KW, Balasubramanian R, Liu Z, Laouali N, Daniel LM, Chen CY, Seng CY, Shiao-Yng C, Kee MZL, Valvi D, Oulhote Y. Mascari M, et al. Chemosphere. 2024 Dec 27:144040. doi: 10.1016/j.chemosphere.2024.144040. Online ahead of print. Chemosphere. 2024. PMID: 39733956

9

Implementation of video-calls between patients admitted to intensive care unit during the COVID-19 pandemic and their families: a pilot study of psychological effects.

Sanfilippo F, La Via L, Schembari G, Tornitore F, Zuccaro G, Morgana A, Valenti MR, Oliveri F, Pappalardo F, Astuto M; RODOLICO-I. C. U. research group. Sanfilippo F, et al. J Anesth Analg Crit Care. 2022 Aug 23;2(1):38. doi: 10.1186/s44158-022-00067-2. J Anesth Analg Crit Care. 2022. PMID: 37386565 Free PMC article.

10

Association between blood metals mixtures concentrations and cognitive performance, and effect modification by diet in older US adults.

Laouali N, Benmarhnia T, Lanphear BP, Weuve J, Mascari M, Boutron-Ruault MC, Oulhote Y. Laouali N, et al. Among authors: mascari m. Environ Epidemiol. 2022 Jan 25;6(1):e192. doi: 10.1097/EE9.0000000000000192. eCollection 2022 Feb. Environ Epidemiol. 2022. PMID: 35169670 Free PMC article.

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