Krantz ID - Search Results

1

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK. Mulchandani S, et al. Among authors: krantz id. Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6. Genet Med. 2016. PMID: 26248010 Free article.

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

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.

6

Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.

Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Emerick KM, et al. Among authors: krantz id. Hepatology. 1999 Mar;29(3):822-9. doi: 10.1002/hep.510290331. Hepatology. 1999. PMID: 10051485

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

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.

9

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

10

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.

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