Hahn SH - Search Results

1

Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis.

Hahn SH, Tanner MS, Danks DM, Gahl WA. Hahn SH, et al. Biochem Mol Med. 1995 Apr;54(2):142-5. doi: 10.1006/bmme.1995.1021. Biochem Mol Med. 1995. PMID: 8581360

2

Copper effects on metal regulatory factors of cultured human fibroblasts.

Hahn SH, Gahl WA. Hahn SH, et al. Biochem Med Metab Biol. 1993 Dec;50(3):346-57. doi: 10.1006/bmmb.1993.1075. Biochem Med Metab Biol. 1993. PMID: 8123298

3

Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.

Hahn SH, Brantly ML, Oliver C, Adamson M, Kaler SG, Gahl WA. Hahn SH, et al. Pediatr Res. 1994 Feb;35(2):197-204. doi: 10.1203/00006450-199402000-00015. Pediatr Res. 1994. PMID: 8165055

4

Effect of metal ions on the stability of metallothionein in the degradation by cellular fractions in vitro.

Hahn SH, Yoo OJ, Gahl WA. Hahn SH, et al. Exp Mol Med. 2001 Mar 31;33(1):32-6. doi: 10.1038/emm.2001.7. Exp Mol Med. 2001. PMID: 11322484

5

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA. Hahn SH, et al. Hum Mutat. 1995;6(1):66-73. doi: 10.1002/humu.1380060113. Hum Mutat. 1995. PMID: 7550234

6

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Meissner LE, Macnamara EF, D'Souza P, Yang J, Vezina G; Undiagnosed Diseases Network; Ferreira CR, Zein WM, Tifft CJ, Adams DR. Meissner LE, et al. Mol Genet Genomic Med. 2020 Dec;8(12):e1544. doi: 10.1002/mgg3.1544. Epub 2020 Nov 7. Mol Genet Genomic Med. 2020. PMID: 33159716 Free PMC article. Review.

7

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J; Undiagnosed Diseases Network; Tifft CJ, Gordon-Lipkin E. Sturrock BRH, et al. Mol Genet Genomic Med. 2021 Jun;9(6):e1692. doi: 10.1002/mgg3.1692. Epub 2021 May 7. Mol Genet Genomic Med. 2021. PMID: 33960148 Free PMC article.

8

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network; Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. Mao D, et al. Am J Hum Genet. 2020 Apr 2;106(4):570-583. doi: 10.1016/j.ajhg.2020.02.016. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197074 Free PMC article.

9

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.

10

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S; Undiagnosed Disease Network; Bademci G, Tekin M. Borja N, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1892. doi: 10.1002/mgg3.1892. Epub 2022 Mar 5. Mol Genet Genomic Med. 2022. PMID: 35247231 Free PMC article.

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