Wilkens A - Search Results

1

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

Schwartz E, Wilkens A, Noon SE, Krantz ID, Wu Y. Schwartz E, et al. Among authors: wilkens a. Am J Med Genet A. 2017 Mar;173(3):809-812. doi: 10.1002/ajmg.a.38071. Am J Med Genet A. 2017. PMID: 28211976 No abstract available.

2

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: wilkens a. 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

3

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. 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

4

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: wilkens a. 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

5

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: wilkens a. Pediatr Dermatol. 2013 Nov-Dec;30(6):e263-4. doi: 10.1111/pde.12115. Epub 2013 Apr 3. Pediatr Dermatol. 2013. PMID: 23551428

6

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.

Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID. Gallant E, et al. Among authors: wilkens a. Am J Med Genet A. 2013 Sep;161A(9):2148-57. doi: 10.1002/ajmg.a.36042. Epub 2013 Jul 19. Am J Med Genet A. 2013. PMID: 23873582 Free PMC article.

7

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH. Izumi K, et al. Among authors: wilkens a. Am J Med Genet A. 2013 Dec;161A(12):3150-4. doi: 10.1002/ajmg.a.36159. Epub 2013 Oct 2. Am J Med Genet A. 2013. PMID: 24115525

8

Cardiac manifestations of Pallister-Killian syndrome.

Tilton RK, Wilkens A, Krantz ID, Izumi K. Tilton RK, et al. Among authors: wilkens a. 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

9

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.

Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. Masino AJ, et al. Among authors: wilkens a. BMC Bioinformatics. 2014 Jul 21;15(1):248. doi: 10.1186/1471-2105-15-248. BMC Bioinformatics. 2014. PMID: 25047600 Free PMC article.

10

NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.

Izumi K, Noon S, Wilkens A, Krantz ID. Izumi K, et al. Among authors: wilkens a. Eur J Med Genet. 2014 Oct;57(10):558-61. doi: 10.1016/j.ejmg.2014.08.003. Epub 2014 Aug 10. Eur J Med Genet. 2014. PMID: 25118008

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