Krantz I - Search Results

1

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: krantz i. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.

2

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.

3

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burn J, Krantz ID, Carr P, Strachan T. Tonkin ET, et al. Hum Genet. 2004 Jul;115(2):139-48. doi: 10.1007/s00439-004-1134-6. Epub 2004 May 27. Hum Genet. 2004. PMID: 15168106 Free PMC article.

4

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. McDaniell R, et al. Am J Hum Genet. 2006 Jul;79(1):169-73. doi: 10.1086/505332. Epub 2006 May 10. Am J Hum Genet. 2006. PMID: 16773578 Free PMC article.

5

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.

6

Characterization of DNA methylation and its association with other biological systems in lymphoblastoid cell lines.

Zhang Z, Liu J, Kaur M, Krantz ID. Zhang Z, et al. Genomics. 2012 Apr;99(4):209-19. doi: 10.1016/j.ygeno.2012.01.002. Epub 2012 Jan 15. Genomics. 2012. PMID: 22269447 Free PMC article.

7

Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome.

Filloux FM, Carey JC, Krantz ID, Ekstrand JJ, Candee MS. Filloux FM, et al. Eur J Med Genet. 2012 May;55(5):367-73. doi: 10.1016/j.ejmg.2012.01.006. Epub 2012 Feb 1. Eur J Med Genet. 2012. PMID: 22349688 Free PMC article.

8

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. Izumi K, et al. Am J Med Genet A. 2012 Dec;158A(12):3033-45. doi: 10.1002/ajmg.a.35500. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169682

9

Seizure characteristics in Pallister-Killian syndrome.

Candee MS, Carey JC, Krantz ID, Filloux FM. Candee MS, et al. Am J Med Genet A. 2012 Dec;158A(12):3026-32. doi: 10.1002/ajmg.a.35567. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169688

10

Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.

Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M. Kostanecka A, et al. Am J Med Genet A. 2012 Dec;158A(12):3018-25. doi: 10.1002/ajmg.a.35670. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169763

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