Krantz ID - Search Results

1

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

Tsai EA, Grochowski CM, Falsey AM, Rajagopalan R, Wendel D, Devoto M, Krantz ID, Loomes KM, Spinner NB. Tsai EA, et al. Among authors: krantz id. Hum Mutat. 2015 Jun;36(6):631-7. doi: 10.1002/humu.22786. Epub 2015 Apr 21. Hum Mutat. 2015. PMID: 25765999 Free PMC 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

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.

5

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

6

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

7

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.

8

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.

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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