Nwokoro NA - Search Results

1

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD. Gorry MC, et al. Among authors: nwokoro na. Hum Mol Genet. 1995 Aug;4(8):1387-90. doi: 10.1093/hmg/4.8.1387. Hum Mol Genet. 1995. PMID: 7581378

2

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. Muenke M, et al. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.

3

Further delineation of the Baller-Gerold syndrome.

Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ. Lin AE, et al. Among authors: nwokoro na. Am J Med Genet. 1993 Feb 15;45(4):519-24. doi: 10.1002/ajmg.1320450423. Am J Med Genet. 1993. PMID: 8465861 Review.

4

Spectrum of malignancy and premalignancy in Carney syndrome.

Nwokoro NA, Korytkowski MT, Rose S, Gorin MB, Penles Stadler M, Witchel SF, Mulvihill JJ. Nwokoro NA, et al. Am J Med Genet. 1997 Dec 31;73(4):369-77. doi: 10.1002/(sici)1096-8628(19971231)73:4<369::aid-ajmg1>3.0.co;2-j. Am J Med Genet. 1997. PMID: 9415461

5

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.

6

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

7

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

8

Baller-Gerold syndrome: a postmortem examination.

Nwokoro NA, Jaffe R, Barmada M. Nwokoro NA, et al. Am J Med Genet. 1993 Dec 1;47(8):1233. doi: 10.1002/ajmg.1320470822. Am J Med Genet. 1993. PMID: 8291562 No abstract available.

9

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

10

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

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