Bove K - Search Results

1

CNTNAP1-Related Congenital Hypomyelinating Neuropathy.

Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ. Lesmana H, et al. Among authors: bove k. Pediatr Neurol. 2019 Apr;93:43-49. doi: 10.1016/j.pediatrneurol.2018.12.014. Epub 2018 Dec 28. Pediatr Neurol. 2019. PMID: 30686628 Review.

2

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT. Burrow TA, et al. Am J Med Genet A. 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg.a.31166. Am J Med Genet A. 2006. PMID: 16528737

3

Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA. Kenny AP, et al. Pediatr Dev Pathol. 2009 Sep-Oct;12(5):417-20. doi: 10.2350/09-03-0628-CR.1. Pediatr Dev Pathol. 2009. PMID: 19469585 Free PMC article.

4

Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease.

Weaver KN, Wang D, Cnota J, Gardner N, Stabley D, Sol-Church K, Gripp KW, Witte DP, Bove KE, Hopkin RJ. Weaver KN, et al. Among authors: bove ke. Pediatr Dev Pathol. 2014 Nov-Dec;17(6):421-30. doi: 10.2350/14-05-1488-OA.1. Epub 2014 Aug 18. Pediatr Dev Pathol. 2014. PMID: 25133308 Free PMC article.

5

Phenotypic and microscopic description of a new case of Ermine phenotype.

Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Zarate YA, et al. Am J Med Genet A. 2009 Jun;149A(6):1253-6. doi: 10.1002/ajmg.a.32815. Am J Med Genet A. 2009. PMID: 19449401

6

Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.

Steiner RD, St J Dignan P, Hopkin RJ, Kozielski R, Bove KE. Steiner RD, et al. Am J Med Genet. 2002 Feb 15;108(1):45-50. doi: 10.1002/ajmg.10167. Am J Med Genet. 2002. PMID: 11857549

7

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Free PMC article. Review. No abstract available.

8

Muscle coenzyme Q: a potential test for mitochondrial activity and redox status.

Miles L, Miles MV, Tang PH, Horn PS, Wong BL, DeGrauw TJ, Morehart PJ, Bove KE. Miles L, et al. Pediatr Neurol. 2005 May;32(5):318-24. doi: 10.1016/j.pediatrneurol.2005.01.009. Pediatr Neurol. 2005. PMID: 15866432

9

Prolonged myasthenic syndrome after one week of muscle relaxants.

Benzing G 3rd, Iannaccone ST, Bove KE, Keebler PJ, Shockley LL. Benzing G 3rd, et al. Among authors: bove ke. Pediatr Neurol. 1990 May-Jun;6(3):190-6. doi: 10.1016/0887-8994(90)90062-6. Pediatr Neurol. 1990. PMID: 2141787

10

Type 1 fiber size disproportion: morphometric data from 37 children with myopathic, neuropathic, or idiopathic hypotonia.

Iannaccone ST, Bove KE, Vogler CA, Buchino JJ. Iannaccone ST, et al. Among authors: bove ke. Pediatr Pathol. 1987;7(4):395-419. doi: 10.3109/15513818709161403. Pediatr Pathol. 1987. PMID: 2451237

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