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Items: 1 to 20 of 321


Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.

Nat Genet. 2017 Mar 13. doi: 10.1038/ng.3808. [Epub ahead of print]


Design and Comparative Evaluation of the Anticonvulsant Profile, Carbonic-Anhydrate Inhibition and Teratogenicity of Novel Carbamate Derivatives of Branched Aliphatic Carboxylic Acids with 4-Aminobenzensulfonamide.

Bibi D, Mawasi H, Nocentini A, Supuran CT, Wlodarczyk B, Finnell RH, Bialer M.

Neurochem Res. 2017 Mar 9. doi: 10.1007/s11064-017-2216-x. [Epub ahead of print]


Ultrasound-guided spectral photoacoustic imaging of hemoglobin oxygenation during development.

Bayer CL, Wlodarczyk BJ, Finnell RH, Emelianov SY.

Biomed Opt Express. 2017 Jan 10;8(2):757-763. doi: 10.1364/BOE.8.000757. eCollection 2017 Jan 10.


Corrigendum for: Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population, 106:685-695 (10.1002/bdra.23517).

Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A.

Birth Defects Res A Clin Mol Teratol. 2016 Dec;106(12):1062. doi: 10.1002/bdra.23599. Epub 2016 Dec 9. No abstract available.


Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.

Chen X, An Y, Gao Y, Guo L, Rui L, Xie H, Sun M, Lam Hung S, Sheng X, Zou J, Bao Y, Guan H, Niu B, Li Z, Finnell RH, Gusella JF, Wu BL, Zhang T.

Hum Mutat. 2017 Apr;38(4):378-389. doi: 10.1002/humu.23153. Epub 2017 Feb 15.


Genomic approaches to the assessment of human spina bifida risk.

Ross ME, Mason CE, Finnell RH.

Birth Defects Res A Clin Mol Teratol. 2016 Nov 24. doi: 10.1002/bdra.23592. [Epub ahead of print] Review.


Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate-induced neural tube closure defects.

Akimova D, Wlodarczyk BJ, Lin Y, Ross ME, Finnell RH, Chen Q, Gross SS.

Birth Defects Res A Clin Mol Teratol. 2016 Nov 18. doi: 10.1002/bdra.23583. [Epub ahead of print]


Identification of vascular disruptor compounds by analysis in zebrafish embryos and mouse embryonic endothelial cells.

McCollum CW, Conde-Vancells J, Hans C, Vazquez-Chantada M, Kleinstreuer N, Tal T, Knudsen T, Shah SS, Merchant FA, Finnell RH, Gustafsson JÅ, Cabrera R, Bondesson M.

Reprod Toxicol. 2016 Nov 10. pii: S0890-6238(16)30401-4. doi: 10.1016/j.reprotox.2016.11.005. [Epub ahead of print]


Genetic analysis of rare coding mutations in CELSR1-3 in Chinese Congenital Heart and Neural Tube Defects.

Qiao X, Liu Y, Li P, Chen Z, Li H, Yang X, Finnell RH, Yang Z, Zhang T, Qiao B, Zheng Y, Wang H.

Clin Sci (Lond). 2016 Oct 18. pii: CS20160686. [Epub ahead of print]


Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.

Brzóska HŁ, d'Esposito AM, Kolatsi-Joannou M, Patel V, Igarashi P, Lei Y, Finnell RH, Lythgoe MF, Woolf AS, Papakrivopoulou E, Long DA.

Kidney Int. 2016 Dec;90(6):1274-1284. doi: 10.1016/j.kint.2016.07.011. Epub 2016 Sep 2.


Remembering Edward J. Lammer, MD.

Finnell RH, Shaw GM.

Am J Med Genet A. 2016 Nov;170(11):2767-2768. doi: 10.1002/ajmg.a.37865. Epub 2016 Aug 2. No abstract available.


Obituary: Dr. Ed Lammer.

Finnell RH, Shaw GM.

Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):515-6. doi: 10.1002/bdra.23524. Epub 2016 Jun 1. No abstract available.


Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population.

Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A.

Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):685-95. doi: 10.1002/bdra.23517. Epub 2016 May 11. Erratum in: Birth Defects Res A Clin Mol Teratol. 2016 Dec;106(12 ):1062.


New Techniques for the Study of Neural Tube Defects.

Lei Y, Finnell RH.

Adv Tech Biol Med. 2016 Feb;4(1). pii: 157. Epub 2015 Dec 26.


Autoantibodies against homocysteinylated protein in a mouse model of folate deficiency-induced neural tube defects.

Denny KJ, Kelly CF, Kumar V, Witham KL, Cabrera RM, Finnell RH, Taylor SM, Jeanes A, Woodruff TM.

Birth Defects Res A Clin Mol Teratol. 2016 Mar;106(3):201-7. doi: 10.1002/bdra.23483. Epub 2016 Feb 22.


Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model.

Hill DS, Cabrera R, Wallis Schultz D, Zhu H, Lu W, Finnell RH, Wlodarczyk BJ.

Behav Neurol. 2015;2015:426263. doi: 10.1155/2015/426263. Epub 2015 Oct 26.


Comparative teratogenicity analysis of valnoctamide, risperidone, and olanzapine in mice.

Wlodarczyk BJ, Ogle K, Lin LY, Bialer M, Finnell RH.

Bipolar Disord. 2015 Sep;17(6):615-25. doi: 10.1111/bdi.12325. Epub 2015 Aug 20.


Correction to Levels of Polycyclic Aromatic Hydrocarbons in Maternal Serum and Risk of Neural Tube Defects in Offspring.

Wang B, Jin L, Ren A, Yuan Y, Liu J, Li Z, Zhang L, Yi D, Wang LL, Zhang Y, Wang X, Tao S, Finnell RH.

Environ Sci Technol. 2015 Sep 1;49(17):10754-5. doi: 10.1021/acs.est.5b03471. Epub 2015 Aug 14. No abstract available.


Analysis of archived residual newborn screening blood spots after whole genome amplification.

Cantarel BL, Lei Y, Weaver D, Zhu H, Farrell A, Benstead-Hume G, Reese J, Finnell RH.

BMC Genomics. 2015 Aug 13;16:602. doi: 10.1186/s12864-015-1747-2.


Rfx2 is required for spermatogenesis in the mouse.

Shawlot W, Vazquez-Chantada M, Wallingford JB, Finnell RH.

Genesis. 2015 Aug 6. doi: 10.1002/dvg.22880. [Epub ahead of print]

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