Schwartz EI - Search Results

1

Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.

Kuzmin AI, Eisensmith RC, Goltsov AA, Sergeeva NA, Schwartz EI, Woo SL. Kuzmin AI, et al. Among authors: schwartz ei. Eur J Hum Genet. 1995;3(4):246-55. doi: 10.1159/000472305. Eur J Hum Genet. 1995. PMID: 8528673

2

Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, Kuzmin AI, Baranovskaya SS, Tsukerman GL, Treacy E, Scriver CR, et al. Eisensmith RC, et al. Among authors: schwartz ei. Am J Hum Genet. 1995 Jan;56(1):278-86. Am J Hum Genet. 1995. PMID: 7825588 Free PMC article.

3

The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg.

Baranovskaya S, Shevtsov S, Maksimova S, Kuzmin A, Schwartz E. Baranovskaya S, et al. J Inherit Metab Dis. 1996;19(5):705. doi: 10.1007/BF01799853. J Inherit Metab Dis. 1996. PMID: 8892033 No abstract available.

4

Polymerase chain reaction amplification from dried blood spots on Guthrie cards.

Schwartz EI, Khalchitsky SE, Eisensmith RC, Woo SL. Schwartz EI, et al. Lancet. 1990 Sep 8;336(8715):639-40. doi: 10.1016/0140-6736(90)93446-v. Lancet. 1990. PMID: 1975418 No abstract available.

5

A novel frameshift mutation causing beta-thalassaemia in Azerbaijan.

Schwartz EI, Gol'tsov AA, Kaboev OK, Alexeev AA, Solovyev GYa, Surin VL, Lukianenko AV, Vinogradov SV, Berlin YuA. Schwartz EI, et al. Nucleic Acids Res. 1989 May 25;17(10):3997. doi: 10.1093/nar/17.10.3997. Nucleic Acids Res. 1989. PMID: 2525253 Free PMC article. No abstract available.

6

Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region.

Charikova EV, Khalchitskii SE, Antoshechkin AG, Schwartz EI. Charikova EV, et al. Among authors: schwartz ei. Hum Hered. 1993 Jul-Aug;43(4):244-9. doi: 10.1159/000154138. Hum Hered. 1993. PMID: 8344669

7

The C825T polymorphism in the G-protein beta3 subunit gene and diabetic complications in IDDM patients.

Shcherbak NS, Schwartz EI. Shcherbak NS, et al. Among authors: schwartz ei. J Hum Genet. 2001;46(4):188-91. doi: 10.1007/s100380170087. J Hum Genet. 2001. PMID: 11322658

8

Two novel slavic point mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg, Russia.

Chakir Kh, Skobeleva NA, Shevtsov SP, Konstantinov VO, Denisenko AD, Schwartz EI. Chakir Kh, et al. Among authors: schwartz ei. Mol Genet Metab. 1998 Jan;63(1):31-4. doi: 10.1006/mgme.1997.2614. Mol Genet Metab. 1998. PMID: 9538514

9

Nonisotopic identification of two point mutations in the CYP21 gene responsible for nonclassic 21-hydroxylase deficiency.

Shevtsov SP, Rechitsky S, Verlinsky O, Schwartz EI. Shevtsov SP, et al. Among authors: schwartz ei. Biochem Med Metab Biol. 1994 Aug;52(2):85-8. doi: 10.1006/bmmb.1994.1037. Biochem Med Metab Biol. 1994. PMID: 7993665

10

Linkage disequilibrium between cystic fibrosis mutations and polymorphic 4-bp repeat within CFTR gene.

Gaitskhoki VS, Voronina OV, Potapova OYu, Kirjukhina LV, Gembitskaya TE, Kapranov NI, Petrova NV, Khafizova ZA, Schwartz EI. Gaitskhoki VS, et al. Among authors: schwartz ei. Biochem Med Metab Biol. 1993 Oct;50(2):186-9. doi: 10.1006/bmmb.1993.1060. Biochem Med Metab Biol. 1993. PMID: 7505092

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