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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Among authors: krantz id. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
Alagille syndrome.
Krantz ID, Piccoli DA, Spinner NB. Krantz ID, et al. J Med Genet. 1997 Feb;34(2):152-7. doi: 10.1136/jmg.34.2.152. J Med Genet. 1997. PMID: 9039994 Free PMC article. Review.
Clinical and molecular genetics of Alagille syndrome.
Krantz ID, Piccoli DA, Spinner NB. Krantz ID, et al. Curr Opin Pediatr. 1999 Dec;11(6):558-64. doi: 10.1097/00008480-199912000-00015. Curr Opin Pediatr. 1999. PMID: 10590916 Review.
Jagged1 mutations in alagille syndrome.
Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. Spinner NB, et al. Among authors: krantz id. Hum Mutat. 2001;17(1):18-33. doi: 10.1002/1098-1004(2001)17:1<18::AID-HUMU3>3.0.CO;2-T. Hum Mutat. 2001. PMID: 11139239 Review.
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: krantz id. 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
Facial features in Alagille syndrome: specific or cholestasis facies?
Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID. Kamath BM, et al. Among authors: krantz id. Am J Med Genet. 2002 Oct 1;112(2):163-70. doi: 10.1002/ajmg.10579. Am J Med Genet. 2002. PMID: 12244550
266 results