Gurnett CA - Search Results

1

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ. Lee HY, et al. Among authors: gurnett ca. Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15. Cell Rep. 2012. PMID: 22832103 Free PMC article.

2

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation.

Dobbs MB, Gurnett CA, Robarge J, Gordon JE, Morcuende JA, Bowcock AM. Dobbs MB, et al. Among authors: gurnett ca. J Orthop Res. 2005 Nov;23(6):1490-4. doi: 10.1016/j.orthres.2005.04.011.1100230636. Epub 2005 Jul 11. J Orthop Res. 2005. PMID: 16005596 Free article.

3

Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3.

Gurnett CA, Dobbs MB, Nordsieck EJ, Keppel C, Goldfarb CA, Morcuende JA, Bowcock AM. Gurnett CA, et al. Am J Med Genet A. 2006 Aug 15;140(16):1744-8. doi: 10.1002/ajmg.a.31375. Am J Med Genet A. 2006. PMID: 16838310

4

Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3.

Gurnett CA, Dobbs MB, Keppel CR, Pincus ER, Jansen LA, Bowcock AM. Gurnett CA, et al. Neurogenetics. 2007 Jan;8(1):61-3. doi: 10.1007/s10048-006-0063-z. Epub 2006 Sep 14. Neurogenetics. 2007. PMID: 16972079 No abstract available.

5

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. Gurnett CA, et al. Am J Med Genet A. 2007 Jan 1;143A(1):27-32. doi: 10.1002/ajmg.a.31563. Am J Med Genet A. 2007. PMID: 17152067

6

Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus.

Gurnett CA, Keppel C, Bick J, Bowcock AM, Dobbs MB. Gurnett CA, et al. Clin Orthop Relat Res. 2007 Sep;462:27-31. doi: 10.1097/BLO.0b013e31805d8649. Clin Orthop Relat Res. 2007. PMID: 17417092

7

HOXD10 M319K mutation in a family with isolated congenital vertical talus.

Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AM. Dobbs MB, et al. Among authors: gurnett ca. J Orthop Res. 2006 Mar;24(3):448-53. doi: 10.1002/jor.20052. J Orthop Res. 2006. PMID: 16450407 Free article.

8

Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, Bowcock A. Gurnett CA, et al. Arch Neurol. 2008 Apr;65(4):550-3. doi: 10.1001/archneur.65.4.550. Arch Neurol. 2008. PMID: 18413482

9

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB. Gurnett CA, et al. Am J Hum Genet. 2008 Nov;83(5):616-22. doi: 10.1016/j.ajhg.2008.10.004. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950742 Free PMC article.

10

Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q.

Gurnett CA, Alaee F, Bowcock A, Kruse L, Lenke LG, Bridwell KH, Kuklo T, Luhmann SJ, Dobbs MB. Gurnett CA, et al. Spine (Phila Pa 1976). 2009 Jan 15;34(2):E94-100. doi: 10.1097/BRS.0b013e31818b88a5. Spine (Phila Pa 1976). 2009. PMID: 19139660 Free PMC article.

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