Keppler-Noreuil K - Search Results

1

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.

Herasse M, Spentchian M, Taillandier A, Keppler-Noreuil K, Fliorito AN, Bergoffen J, Wallerstein R, Muti C, Simon-Bouy B, Mornet E. Herasse M, et al. J Med Genet. 2003 Aug;40(8):605-9. doi: 10.1136/jmg.40.8.605. J Med Genet. 2003. PMID: 12920074 Free PMC article. No abstract available.

2

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.

Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. Yan J, et al. J Med Genet. 2009 Sep;46(9):626-34. doi: 10.1136/jmg.2008.062471. Epub 2008 Dec 3. J Med Genet. 2009. PMID: 19052029 Free PMC article.

3

A case of Williams syndrome with a large, visible cytogenetic deletion.

Wu YQ, Nickerson E, Shaffer LG, Keppler-Noreuil K, Muilenburg A. Wu YQ, et al. J Med Genet. 1999 Dec;36(12):928-32. J Med Genet. 1999. PMID: 10636739 Free PMC article. No abstract available.

4

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases.

Keppler-Noreuil KM. Keppler-Noreuil KM. Am J Med Genet. 2001 Apr 1;99(4):271-9. doi: 10.1002/1096-8628(2001)9999:9999<00::aid-ajmg1094>3.0.co;2-#. Am J Med Genet. 2001. PMID: 11251992

5

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS).

Keppler-Noreuil KM, Blumhorst C, Sapp JC, Brinckman D, Johnston J, Nopoulos PC, Biesecker LG. Keppler-Noreuil KM, et al. BMC Med Genet. 2011 Jul 27;12:101. doi: 10.1186/1471-2350-12-101. BMC Med Genet. 2011. PMID: 21794117 Free PMC article.

6

Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review.

Keppler-Noreuil K, Gorton S, Foo F, Yankowitz J, Keegan C. Keppler-Noreuil K, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2122-8. doi: 10.1002/ajmg.a.31897. Am J Med Genet A. 2007. PMID: 17702047 Free article. Review.

7

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Keppler-Noreuil KM, Conway KM, Shen D, Rhoads AJ, Carey JC, Romitti PA; National Birth Defects Prevention Study. Keppler-Noreuil KM, et al. Am J Med Genet A. 2017 Nov;173(11):2873-2885. doi: 10.1002/ajmg.a.38469. Epub 2017 Sep 28. Am J Med Genet A. 2017. PMID: 28960693 Free PMC article.

8

Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16.

Schmidt N, Van Dyke DC, Keppler-Noreuil K, Muilenburg A, Patil S, Kanis AB. Schmidt N, et al. Dev Med Child Neurol. 2001 Feb;43(2):130-2. doi: 10.1017/s0012162201000238. Dev Med Child Neurol. 2001. PMID: 11221902 Free article.

9

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

Vlangos CN, Siuniak A, Ackley T, van Bokhoven H, Veltman J, Iyer R, Park JM, Keppler-Noreuil K, Keegan CE. Vlangos CN, et al. Am J Med Genet A. 2011 Jan;155A(1):38-49. doi: 10.1002/ajmg.a.33757. Am J Med Genet A. 2011. PMID: 21204209

10

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Keppler-Noreuil KM, et al. Am J Med Genet A. 2011 May;155A(5):1021-32. doi: 10.1002/ajmg.a.33892. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465651 Review.

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