Krantz ID - Search Results

1

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. Liu J, et al. Among authors: krantz id. Hum Mutat. 2009 Nov;30(11):1535-42. doi: 10.1002/humu.21095. Hum Mutat. 2009. PMID: 19701948 Free PMC article.

2

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.

3

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

4

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.

5

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. Russell KL, et al. Among authors: krantz id. Am J Med Genet. 2001 Dec 15;104(4):267-76. doi: 10.1002/ajmg.10066. Am J Med Genet. 2001. PMID: 11754058 Free PMC article. Review.

6

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.

Ferraris A, Rappaport E, Santacroce R, Pollak E, Krantz I, Toth S, Lysholm F, Margaglione M, Restagno G, Dallapiccola B, Surrey S, Fortina P. Ferraris A, et al. Hum Mutat. 2002 Oct;20(4):312-20. doi: 10.1002/humu.10127. Hum Mutat. 2002. PMID: 12325027

7

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Krantz ID, et al. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146186 Free PMC article.

8

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. Among authors: krantz id. 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.

9

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Among authors: krantz id. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279

10

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. Gillis LA, et al. Among authors: krantz id. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18. Am J Hum Genet. 2004. PMID: 15318302 Free PMC article.

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