Krantz ID - Search Results

1

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.

Mehta D, Noon SE, Schwartz E, Wilkens A, Bedoukian EC, Scarano I, Crenshaw EB 3rd, Krantz ID. Mehta D, et al. Among authors: krantz id. Am J Med Genet A. 2016 Oct;170(10):2523-30. doi: 10.1002/ajmg.a.37855. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27480936

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

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.

4

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.

5

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

6

Facial features in Alagille syndrome: specific or cholestasis facies?

Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID. Kamath BM, et al. Among authors: krantz id. Am J Med Genet. 2002 Oct 1;112(2):163-70. doi: 10.1002/ajmg.10579. Am J Med Genet. 2002. PMID: 12244550

7

Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.

Kamath BM, Loomes KM, Oakey RJ, Krantz ID. Kamath BM, et al. Among authors: krantz id. Am J Med Genet. 2002 Oct 1;112(2):171-5. doi: 10.1002/ajmg.10628. Am J Med Genet. 2002. PMID: 12244551

8

Craniosynostosis in Alagille syndrome.

Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. Kamath BM, et al. Among authors: krantz id. Am J Med Genet. 2002 Oct 1;112(2):176-80. doi: 10.1002/ajmg.10608. Am J Med Genet. 2002. PMID: 12244552

9

Consequences of JAG1 mutations.

Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Kamath BM, et al. Among authors: krantz id. J Med Genet. 2003 Dec;40(12):891-5. doi: 10.1136/jmg.40.12.891. J Med Genet. 2003. PMID: 14684686 Free PMC article.

10

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

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