Krantz ID - Search Results

1

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

Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M. Kostanecka A, et al. Among authors: krantz id. 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

2

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. Among authors: krantz id. 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.

3

Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome.

Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz I, Pipan M. Nakanishi M, et al. Am J Med Genet A. 2012 Aug;158A(8):1841-7. doi: 10.1002/ajmg.a.34014. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740374 Free PMC article.

4

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz ID. DeScipio C, et al. Among authors: krantz id. Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847950 Free PMC article.

5

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. Among authors: krantz id. 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

6

Seizure characteristics in Pallister-Killian syndrome.

Candee MS, Carey JC, Krantz ID, Filloux FM. Candee MS, et al. Among authors: krantz id. 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

7

Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.

Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID. Wilkens A, et al. Among authors: krantz id. Am J Med Genet A. 2012 Dec;158A(12):3002-17. doi: 10.1002/ajmg.a.35722. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169767

8

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. Conlin LK, et al. Among authors: krantz id. Am J Med Genet A. 2012 Dec;158A(12):3046-53. doi: 10.1002/ajmg.a.35726. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169773

9

Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.

Izumi K, Wilkens A, Treat JR, Pride HB, Krantz ID. Izumi K, et al. Among authors: krantz id. Pediatr Dermatol. 2013 Nov-Dec;30(6):e263-4. doi: 10.1111/pde.12115. Epub 2013 Apr 3. Pediatr Dermatol. 2013. PMID: 23551428

10

Cardiac manifestations of Pallister-Killian syndrome.

Tilton RK, Wilkens A, Krantz ID, Izumi K. Tilton RK, et al. Among authors: krantz id. Am J Med Genet A. 2014 May;164A(5):1130-5. doi: 10.1002/ajmg.a.36413. Epub 2014 Feb 6. Am J Med Genet A. 2014. PMID: 24504854

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