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Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. Descipio C, et al. Among authors: bason l. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. doi: 10.1002/ajmg.a.30573. Am J Med Genet A. 2005. PMID: 15704124 Review.
Craniosynostosis in Alagille syndrome.
Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. Kamath BM, et al. Among authors: bason l. Am J Med Genet. 2002 Oct 1;112(2):176-80. doi: 10.1002/ajmg.10608. Am J Med Genet. 2002. PMID: 12244552
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB. Colliton RP, et al. Among authors: bason l. Hum Mutat. 2001 Feb;17(2):151-2. doi: 10.1002/1098-1004(200102)17:2<151::AID-HUMU8>3.0.CO;2-T. Hum Mutat. 2001. PMID: 11180599
Consequences of JAG1 mutations.
Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Kamath BM, et al. Among authors: bason l. J Med Genet. 2003 Dec;40(12):891-5. doi: 10.1136/jmg.40.12.891. J Med Genet. 2003. PMID: 14684686 Free PMC article.
Lateral meningocele syndrome: three new patients and review of the literature.
Gripp KW, Scott CI Jr, Hughes HE, Wallerstein R, Nicholson L, States L, Bason LD, Kaplan P, Zderic SA, Duhaime AC, Miller F, Magnusson MR, Zackai EH. Gripp KW, et al. Among authors: bason ld. Am J Med Genet. 1997 Jun 13;70(3):229-39. Am J Med Genet. 1997. PMID: 9188658 Review.
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. McDonald-McGinn DM, et al. Among authors: bason l. Am J Med Genet. 1995 Oct 23;59(1):103-13. doi: 10.1002/ajmg.1320590122. Am J Med Genet. 1995. PMID: 8849001
19 results