Lewanda AF - Search Results

1

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M. Matejas V, et al. Among authors: lewanda af. Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Hum Mutat. 2010. PMID: 20556798 Free PMC article. Review.

2

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Kato M, et al. Among authors: lewanda af. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. Hum Mutat. 2004. PMID: 14722918

3

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. Prasov L, et al. Hum Mol Genet. 2012 Aug 15;21(16):3681-94. doi: 10.1093/hmg/dds197. Epub 2012 May 29. Hum Mol Genet. 2012. PMID: 22645276 Free PMC article.

4

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N. Nino M, et al. Am J Med Genet A. 2008 Apr 15;146A(8):997-1008. doi: 10.1002/ajmg.a.32159. Am J Med Genet A. 2008. PMID: 18348268

5

Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.

Lewanda AF, Green ED, Weissenbach J, Jerald H, Taylor E, Summar ML, Phillips JA 3rd, Cohen M, Feingold M, Mouradian W, et al. Lewanda AF, et al. Am J Hum Genet. 1994 Dec;55(6):1195-201. Am J Hum Genet. 1994. PMID: 7977380 Free PMC article.

6

Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.

Lewanda AF, Cohen MM Jr, Jackson CE, Taylor EW, Li X, Beloff M, Day D, Clarren SK, Ortiz R, Garcia C, et al. Lewanda AF, et al. Genomics. 1994 Jan 1;19(1):115-9. doi: 10.1006/geno.1994.1020. Genomics. 1994. PMID: 8188211 Free article.

7

Genetics of craniofacial disorders.

Lewanda AF, Jabs EW. Lewanda AF, et al. Curr Opin Pediatr. 1994 Dec;6(6):690-7. doi: 10.1097/00008480-199412000-00014. Curr Opin Pediatr. 1994. PMID: 7849816 Review.

8

Two craniosynostotic patients with 11q deletions, and review of 48 cases.

Lewanda AF, Morsey S, Reid CS, Jabs EW. Lewanda AF, et al. Am J Med Genet. 1995 Nov 6;59(2):193-8. doi: 10.1002/ajmg.1320590215. Am J Med Genet. 1995. PMID: 8588585

9

Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.

Li X, Lewanda AF, Eluma F, Jerald H, Choi H, Alozie I, Proukakis C, Talbot CC Jr, Vander Kolk C, Bird LM, et al. Li X, et al. Among authors: lewanda af. Genomics. 1994 Jul 15;22(2):418-24. doi: 10.1006/geno.1994.1403. Genomics. 1994. PMID: 7806229 Free article.

10

No evidence of linkage for cleft lip with or without cleft palate to a marker near the transforming growth factor alpha locus in two populations.

Wyszynski DF, Maestri N, Lewanda AF, McIntosh I, Smith EA, García-Delgado C, Vinageras-Guarneros E, Wulfsberg E, Beaty TH. Wyszynski DF, et al. Among authors: lewanda af. Hum Hered. 1997 Mar-Apr;47(2):101-9. doi: 10.1159/000154397. Hum Hered. 1997. PMID: 9097091

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