Krantz ID - Search Results

1

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?

Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID. Kenna MA, et al. Among authors: krantz id. Am J Med Genet A. 2007 Jul 15;143A(14):1560-6. doi: 10.1002/ajmg.a.31706. Am J Med Genet A. 2007. PMID: 17455295

2

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz ID. Bason L, et al. Among authors: krantz id. Clin Genet. 2002 Jun;61(6):459-64. doi: 10.1034/j.1399-0004.2002.610611.x. Clin Genet. 2002. PMID: 12121355

3

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

4

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.

5

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.

6

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. Descipio C, et al. Among authors: krantz id. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. doi: 10.1002/ajmg.a.30573. Am J Med Genet A. 2005. PMID: 15704124 Review.

7

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. DeScipio C, et al. Among authors: krantz id. Am J Med Genet A. 2005 Sep 1;137A(3):276-82. doi: 10.1002/ajmg.a.30857. Am J Med Genet A. 2005. PMID: 16075459 Free PMC article. Review.

8

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. Kaur M, et al. Among authors: krantz id. Am J Med Genet A. 2005 Sep 15;138(1):27-31. doi: 10.1002/ajmg.a.30919. Am J Med Genet A. 2005. PMID: 16100726 Free PMC article.

9

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.

Yaeger D, McCallum J, Lewis K, Soslow L, Shah U, Potsic W, Stolle C, Krantz ID. Yaeger D, et al. Among authors: krantz id. Am J Med Genet A. 2006 Apr 15;140(8):827-36. doi: 10.1002/ajmg.a.31179. Am J Med Genet A. 2006. PMID: 16532460

10

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.

Nallasamy S, Kherani F, Yaeger D, McCallum J, Kaur M, Devoto M, Jackson LG, Krantz ID, Young TL. Nallasamy S, et al. Among authors: krantz id. Arch Ophthalmol. 2006 Apr;124(4):552-7. doi: 10.1001/archopht.124.4.552. Arch Ophthalmol. 2006. PMID: 16606884

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