Das S - Search Results

1

Prenatal diagnosis of Menkes disease by mutation analysis.

Das S, Whitney S, Taylor J, Chen E, Levinson B, Vulpe C, Gitschier J, Packman S. Das S, et al. J Inherit Metab Dis. 1995;18(3):364-5. doi: 10.1007/BF00710435. J Inherit Metab Dis. 1995. PMID: 7474910 No abstract available.

2

Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.

Pan Y, Metzenberg A, Das S, Jing B, Gitschier J. Pan Y, et al. Among authors: das s. Nat Genet. 1992 Oct;2(2):103-6. doi: 10.1038/ng1092-103. Nat Genet. 1992. PMID: 1303257

3

Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Das S, et al. Am J Hum Genet. 1995 Mar;56(3):570-6. Am J Hum Genet. 1995. PMID: 7887410 Free PMC article.

4

Diverse mutations in patients with Menkes disease often lead to exon skipping.

Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J. Das S, et al. Am J Hum Genet. 1994 Nov;55(5):883-9. Am J Hum Genet. 1994. PMID: 7977350 Free PMC article.

5

Identification of a TXREB pseudogene (TXREBP) located between the genes for p55 (MPP1) and G6PD on Xq28.

Das S, Gitschier J. Das S, et al. Genomics. 1994 May 1;21(1):275-8. doi: 10.1006/geno.1994.1258. Genomics. 1994. PMID: 8088803

6

Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita.

Metzenberg AB, Pan Y, Das S, Pai GS, Gitschier J. Metzenberg AB, et al. Among authors: das s. Am J Hum Genet. 1994 May;54(5):920-2. Am J Hum Genet. 1994. PMID: 8178832 Free PMC article. No abstract available.

7

Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti.

Das S, Metzenberg A, Pai GS, Gitschier J. Das S, et al. Am J Hum Genet. 1994 May;54(5):922-5. Am J Hum Genet. 1994. PMID: 8178833 Free PMC article. No abstract available.

8

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

Kaler SG, Das S, Levinson B, Goldstein DS, Holmes CS, Patronas NJ, Packman S, Gahl WA. Kaler SG, et al. Among authors: das s. Biochem Mol Med. 1996 Feb;57(1):37-46. doi: 10.1006/bmme.1996.0007. Biochem Mol Med. 1996. PMID: 8812725

9

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.

Levinson B, Conant R, Schnur R, Das S, Packman S, Gitschier J. Levinson B, et al. Among authors: das s. Hum Mol Genet. 1996 Nov;5(11):1737-42. doi: 10.1093/hmg/5.11.1737. Hum Mol Genet. 1996. PMID: 8923001

10

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: das s. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744

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