Krantz ID - Search Results

1

Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene.

Lee L, Dowhanick-Morrissette J, Katz A, Jukofsky L, Krantz ID. Lee L, et al. Among authors: krantz id. Hum Genet. 2000 Dec;107(6):577-81. doi: 10.1007/s004390000431. Hum Genet. 2000. PMID: 11153911

2

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.

3

Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization.

Krantz ID, Rand EB, Genin A, Hunt P, Jones M, Louis AA, Graham JM Jr, Bhatt S, Piccoli DA, Spinner NB. Krantz ID, et al. Am J Med Genet. 1997 May 2;70(1):80-6. Am J Med Genet. 1997. PMID: 9129746

4

Mutations in the human Jagged1 gene are responsible for Alagille syndrome.

Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Oda T, et al. Among authors: krantz id. Nat Genet. 1997 Jul;16(3):235-42. doi: 10.1038/ng0797-235. Nat Genet. 1997. PMID: 9207787

5

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Li L, et al. Among authors: krantz id. Nat Genet. 1997 Jul;16(3):243-51. doi: 10.1038/ng0797-243. Nat Genet. 1997. PMID: 9207788

6

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB. Krantz ID, et al. Am J Hum Genet. 1998 Jun;62(6):1361-9. doi: 10.1086/301875. Am J Hum Genet. 1998. PMID: 9585603 Free PMC article.

7

Jagged1 mutations in patients ascertained with isolated congenital heart defects.

Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB. Krantz ID, et al. Am J Med Genet. 1999 May 7;84(1):56-60. Am J Med Genet. 1999. PMID: 10213047

8

Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes.

Celle L, Lee L, Rintoul N, Savani RC, Long W, Mennuti MT, Krantz ID. Celle L, et al. Among authors: krantz id. Am J Med Genet. 2000 Sep 11;94(2):125-40. doi: 10.1002/1096-8628(20000911)94:2<125::aid-ajmg5>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10982969

9

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

10

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, Jackson L. Krantz ID, et al. Am J Med Genet. 2001 Jun 15;101(2):120-9. Am J Med Genet. 2001. PMID: 11391654 Free PMC article.

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