Nwokoro NA - Search Results

1

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD. Wassif CA, et al. Among authors: nwokoro na. Hum Mol Genet. 2001 Mar 15;10(6):555-64. doi: 10.1093/hmg/10.6.555. Hum Mol Genet. 2001. PMID: 11230174

2

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD. Krakowiak PA, et al. Among authors: nwokoro na. Am J Med Genet. 2000 Sep 18;94(3):214-27. Am J Med Genet. 2000. PMID: 10995508

3

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.

Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI. Tierney E, et al. Among authors: nwokoro na. Am J Med Genet. 2001 Jan 15;98(2):191-200. doi: 10.1002/1096-8628(20010115)98:2<191::aid-ajmg1030>3.0.co;2-m. Am J Med Genet. 2001. PMID: 11223857

4

Genetic disorders of cholesterol biosynthesis in mice and humans.

Nwokoro NA, Wassif CA, Porter FD. Nwokoro NA, et al. Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226. Mol Genet Metab. 2001. PMID: 11592808 Review.

5

Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.

Wright BS, Nwokoro NA, Wassif CA, Porter FD, Waye JS, Eng B, Nowaczyk MJ. Wright BS, et al. Among authors: nwokoro na. Am J Med Genet A. 2003 Jul 1;120A(1):139-41. doi: 10.1002/ajmg.a.10207. Am J Med Genet A. 2003. PMID: 12794707 No abstract available.

6

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.

Tierney E, Nwokoro NA, Kelley RI. Tierney E, et al. Among authors: nwokoro na. Ment Retard Dev Disabil Res Rev. 2000;6(2):131-4. doi: 10.1002/1098-2779(2000)6:2<131::AID-MRDD7>3.0.CO;2-R. Ment Retard Dev Disabil Res Rev. 2000. PMID: 10899806 Review.

7

Smith-Lemli-Opitz syndrome.

Martin A, Koenig K, Scahill L, Tierney E, Porter FD, Nwokoro NA. Martin A, et al. Among authors: nwokoro na. J Am Acad Child Adolesc Psychiatry. 2001 May;40(5):506-7. doi: 10.1097/00004583-200105000-00008. J Am Acad Child Adolesc Psychiatry. 2001. PMID: 11349693 No abstract available.

8

Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome.

Quezado ZM, Veihmeyer J, Schwartz L, Nwokoro NA, Porter FD. Quezado ZM, et al. Among authors: nwokoro na. Anesthesiology. 2002 Oct;97(4):1015-9. doi: 10.1097/00000542-200210000-00041. Anesthesiology. 2002. PMID: 12357175 No abstract available.

9

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome.

Nwokoro NA, Mulvihill JJ. Nwokoro NA, et al. Am J Med Genet. 1997 Jan 31;68(3):315-21. doi: 10.1002/(sici)1096-8628(19970131)68:3<315::aid-ajmg13>3.0.co;2-w. Am J Med Genet. 1997. PMID: 9024566 Clinical Trial.

10

Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management.

Nwokoro NA, Hyde B, Mulvihill JJ. Nwokoro NA, et al. Am J Med Genet. 1994 May 1;50(4):375-6. doi: 10.1002/ajmg.1320500415. Am J Med Genet. 1994. PMID: 8209919

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