16
results
for author:"Nowaczyk M.J."
in Literature Citations
| De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome. Waye J.S., Eng B., Potter M.A., Nowaczyk M.J., McFadden D., Langlois S. Am. J. Med. Genet. A 143A:1799-1801(2007) · Mapped (4) |
| Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. Waye J.S., Eng B., Nowaczyk M.J. Prenat. Diagn. 27:638-640(2007) · Mapped (4) |
| Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Feuk L., Kalervo A., Lipsanen-Nyman M., Skaug J., Nakabayashi K., Finucane B., Hartung D., Innes M., Kerem B., Nowaczyk M.J. et al. Am. J. Hum. Genet. 79:965-972(2006) · Mapped (12) |
| SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. Ciara E., Popowska E., Piekutowska-Abramczuk D., Jurkiewicz D., Borucka-Mankiewicz M., Kowalski P., Goryluk-Kozakiewicz B., Nowaczyk M.J., Krajewska-Walasek M. Eur J Med Genet 49:499-504(2006) · Mapped (4) |
| Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Waye J.S., Krakowiak P.A., Wassif C.A., Sterner A.L., Eng B., Nakamura L.M., Nowaczyk M.J.M., Porter F.D. |
| DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Ciara E., Nowaczyk M.J., Witsch-Baumgartner M., Malunowicz E., Popowska E., Jezela-Stanek A., Piotrowicz M., Waye J.S., Utermann G., Krajewska-Walasek M. Clin. Genet. 66:517-524(2004) · Mapped (4) |
| Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Krantz I.D., McCallum J., DeScipio C., Kaur M., Gillis L.A., Yaeger D., Jukofsky L., Wasserman N., Bottani A., Morris C.A. et al. |
| Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. Nowaczyk M.J., Martin-Garcia D., Aquino-Perna A., Rodriguez-Vazquez M., McCaughey D., Eng B., Nakamura L.M., Waye J.S. Am. J. Med. Genet. A 125A:173-176(2004) · Mapped (4) |
| Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. Nowaczyk M.J., Eng B., Waye J.S., Farrell S.A., Sirkin W.L. Am. J. Med. Genet. A 120A:305-307(2003) · Mapped (4) |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Bi W., Yan J., Stankiewicz P., Park S.-S., Walz K., Boerkoel C.F., Potocki L., Shaffer L.G., Devriendt K., Nowaczyk M.J.M. et al. Genome Res. 12:713-728(2002) · UniProtKB (7) |
| Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. van Kuilenburg A.B., Dobritzsch D., Meinsma R., Haasjes J., Waterham H.R., Nowaczyk M.J., Maropoulos G.D., Hein G., Kalhoff H., Kirk J.M. et al. Biochem. J. 364:157-163(2002) · Mapped (5) |
| Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. Prasad C., Marles S., Prasad A.N., Nikkel S., Longstaffe S., Peabody D., Eng B., Wright S., Waye J.S., Nowaczyk M.J. Am. J. Med. Genet. 108:64-68(2002) · Mapped (4) |
| DHCR7 and Smith-Lemli-Opitz syndrome. Nowaczyk M.J., Nakamura L.M., Waye J.S. Clin Invest Med 24:311-317(2001) · Mapped (4) |
| Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. Nowaczyk M.J., Nakamura L.M., Eng B., Porter F.D., Waye J.S. Am. J. Med. Genet. 102:383-386(2001) · Mapped (4) |
| Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. Krakowiak P.A., Nwokoro N.A., Wassif C.A., Battaile K.P., Nowaczyk M.J.M., Connor W.E., Maslen C., Steiner R.D., Porter F.D. Am. J. Med. Genet. 94:214-227(2000) · UniProtKB (1) |
