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Items: 1 to 20 of 2290

1.

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.

Bérubé-Simard FA, Pilon N.

Transcription. 2018 Sep 11. doi: 10.1080/21541264.2018.1521213. [Epub ahead of print]

PMID:
30205741
2.

Etiology and Pathogenesis of Hemifacial Microsomia.

Chen Q, Zhao Y, Shen G, Dai J.

J Dent Res. 2018 Sep 11:22034518795609. doi: 10.1177/0022034518795609. [Epub ahead of print]

PMID:
30205013
3.

Comparison of sonohysterography to hysterosalpingogram for tubal patency assessment in a multicenter fertility treatment trial among women with polycystic ovary syndrome.

Christianson MS, Legro RS, Jin S, Eisenberg E, Diamond MP, Hansen KR, Vitek W, Styer AK, Casson P, Coutifaris C, Christman GM, Alvero R, Puscheck EE, Christy AY, Sun F, Zhang H, Polotsky AJ, Santoro N.

J Assist Reprod Genet. 2018 Sep 7. doi: 10.1007/s10815-018-1306-2. [Epub ahead of print]

PMID:
30194618
4.

Intraspinal calcinosis mimicking intervertebral disc extrusion: A clinical and surgical case report.

Maraković J, Marinović T, Jeleč V, Dlaka D, Muller D, Blažević A, Raguž M.

Surg Neurol Int. 2018 Aug 14;9:166. doi: 10.4103/sni.sni_147_18. eCollection 2018.

5.

Morphogenesis of Canine Chiari Malformation and Secondary Syringomyelia: Disorders of Cerebrospinal Fluid Circulation.

Knowler SP, Galea GL, Rusbridge C.

Front Vet Sci. 2018 Jul 27;5:171. doi: 10.3389/fvets.2018.00171. eCollection 2018. Review.

6.

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation.

Janssen HCJP, Vulto-van Silfhout AT, Jongmans MCJ, van der Hout AH, Overeem S.

J Clin Sleep Med. 2018 Aug 15;14(8):1427-1430. doi: 10.5664/jcsm.7290.

PMID:
30092902
7.

Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum.

Watanabe S, Matsudera S, Yamaguchi T, Tani Y, Ogino K, Nakajima M, Yamaguchi S, Sasaki K, Suzumura H, Tsuchioka T.

Pediatr Rep. 2018 May 24;10(2):7500. doi: 10.4081/pr.2018.7500. eCollection 2018 May 24.

8.

Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling.

Hansen AL, Buchan GJ, Rühl M, Mukai K, Salvatore SR, Ogawa E, Andersen SD, Iversen MB, Thielke AL, Gunderstofte C, Motwani M, Møller CT, Jakobsen AS, Fitzgerald KA, Roos J, Lin R, Maier TJ, Goldbach-Mansky R, Miner CA, Qian W, Miner JJ, Rigby RE, Rehwinkel J, Jakobsen MR, Arai H, Taguchi T, Schopfer FJ, Olagnier D, Holm CK.

Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):E7768-E7775. doi: 10.1073/pnas.1806239115. Epub 2018 Jul 30.

9.

Autoimmune associations in a Mexican cohort with primary biliary cholangitis.

González-Huezo MS, Delgado-Ayala LY, Osorio-Núñez AL, Meléndez-Mercado C.

Rev Gastroenterol Mex. 2018 Jul 13. pii: S0375-0906(18)30126-5. doi: 10.1016/j.rgmx.2018.03.008. [Epub ahead of print] English, Spanish.

10.

Imaging studies of kleptomania in a middle-aged woman with obsessive-compulsive disorder: a case report.

Midorikawa H, Ide M, Nemoto K, Mizukami K, Asada T, Arai T.

Psychogeriatrics. 2018 Sep;18(5):430-433. doi: 10.1111/psyg.12339. Epub 2018 Jul 10.

PMID:
29987861
11.

Rare Association of Waardenburg Syndrome with Minimal Change Disease.

Anvesh G, Raju SB, Prasad K, Sharma A, Surendra M.

Indian J Nephrol. 2018 May-Jun;28(3):226-228. doi: 10.4103/ijn.IJN_55_17.

12.

Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication.

Pendleton AL, Shen F, Taravella AM, Emery S, Veeramah KR, Boyko AR, Kidd JM.

BMC Biol. 2018 Jun 28;16(1):64. doi: 10.1186/s12915-018-0535-2.

13.

Variations in vascular anatomy and unilateral adrenal agenesis in a female cadaver with situs inversus totalis.

González-Castillo A, Rojas S, Ortega M, Rodríguez-Baeza A.

Surg Radiol Anat. 2018 Jun 21. doi: 10.1007/s00276-018-2060-y. [Epub ahead of print]

PMID:
29931532
14.

Identification of four genes as novel susceptibility loci for early-onset type 2 diabetes mellitus, metabolic syndrome, or hyperuricemia.

Yamada Y, Kato K, Oguri M, Horibe H, Fujimaki T, Yasukochi Y, Takeuchi I, Sakuma J.

Biomed Rep. 2018 Jul;9(1):21-36. doi: 10.3892/br.2018.1105. Epub 2018 May 29.

15.

Waardenburg syndrome: A rare case.

Rawlani SM, Ramtake R, Dhabarde A, Rawlani SS.

Oman J Ophthalmol. 2018 May-Aug;11(2):158-160. doi: 10.4103/ojo.OJO_51_2014.

16.

Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development.

Wei W, Liu B, Jiang H, Jin K, Xiang M.

Mol Neurobiol. 2018 Jun 19. doi: 10.1007/s12035-018-1186-6. [Epub ahead of print]

PMID:
29922981
17.

Intradural Ganglioneuroma Mimicking Lumbar Disc Herniation: Case Report.

Barrena López C, De la Calle García B, Sarabia Herrero R.

World Neurosurg. 2018 Sep;117:40-45. doi: 10.1016/j.wneu.2018.05.225. Epub 2018 Jun 7.

PMID:
29886296
18.

A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation.

Ong RKS, Flores SK, Reddick RL, Dahia PLM, Shawa H.

J Clin Endocrinol Metab. 2018 Aug 1;103(8):2802-2806. doi: 10.1210/jc.2017-01302.

PMID:
29878124
19.

Arthroscopic Anterior and Posterior Glenoid Bone Augmentation With Capsular Plication for Ehlers-Danlos Syndrome With Multidirectional Instability.

Armstrong MD, Smith B, Coady C, Wong IH.

Arthrosc Tech. 2018 Apr 23;7(5):e541-e545. doi: 10.1016/j.eats.2018.01.011. eCollection 2018 May.

20.

Refractory Hepatic Hydrothorax: A Rare Complication of Systemic Sclerosis and Presinusoidal Portal Hypertension.

Abrams GA, Chapman R, Horton SRW.

Case Reports Hepatol. 2018 Apr 30;2018:2704949. doi: 10.1155/2018/2704949. eCollection 2018.

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