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Items: 1 to 20 of 86850

1.

Identification and Multilineage Potential Research of a Novel Type of Adipose-Derived Mesenchymal Stem Cells from Goose Inguinal Groove.

Ma C, Guo Y, Wen H, Zheng Y, Tan L, Li X, Wang C, Guan W, Liu C.

DNA Cell Biol. 2018 Aug 13. doi: 10.1089/dna.2017.4061. [Epub ahead of print]

PMID:
30102556
2.

Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice.

Wang D, Li J, Song CQ, Tran K, Mou H, Wu PH, Tai PWL, Mendonca CA, Ren L, Wang BY, Su Q, Gessler DJ, Zamore PD, Xue W, Gao G.

Nat Biotechnol. 2018 Aug 13. doi: 10.1038/nbt.4219. [Epub ahead of print]

PMID:
30102296
3.

Gene Therapy Rescues Retinal Degeneration in <i>Reep6 </i>Mutant Mice.

Zaneveld SA, Eblimit A, Liang Q, Bertrand R, Wu N, Liu H, Nguyen Q, Zaneveld J, Wang K, Li Y, Chen R.

Hum Gene Ther. 2018 Aug 13. doi: 10.1089/hum.2018.078. [Epub ahead of print]

PMID:
30101608
4.

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay.

Farber-Katz S, Hsuan V, Wu S, Landrith T, Vuong H, Xu D, Li B, Hoo J, Lam S, Nashed S, Toppmeyer D, Gray P, Haynes G, Lu HM, Elliott A, Tippin Davis B, Karam R.

Front Oncol. 2018 Jul 27;8:286. doi: 10.3389/fonc.2018.00286. eCollection 2018.

5.

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study.

Ben-Chetrit E, Gattorno M, Gul A, Kastner DL, Lachmann HJ, Touitou I, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants.

Ann Rheum Dis. 2018 Aug 12. pii: annrheumdis-2017-212515. doi: 10.1136/annrheumdis-2017-212515. [Epub ahead of print] Review.

PMID:
30100561
6.

iPSC-Derived Macrophages Effectively Treat Pulmonary Alveolar Proteinosis in Csf2rb-Deficient Mice.

Mucci A, Lopez-Rodriguez E, Hetzel M, Liu S, Suzuki T, Happle C, Ackermann M, Kempf H, Hillje R, Kunkiel J, Janosz E, Brennig S, Glage S, Bankstahl JP, Dettmer S, Rodt T, Gohring G, Trapnell B, Hansen G, Trapnell C, Knudsen L, Lachmann N, Moritz T.

Stem Cell Reports. 2018 Aug 3. pii: S2213-6711(18)30311-4. doi: 10.1016/j.stemcr.2018.07.006. [Epub ahead of print]

7.

Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.

Park SJ, Kim Y, Chen YM.

Pediatr Nephrol. 2018 Aug 11. doi: 10.1007/s00467-018-4031-2. [Epub ahead of print] Review.

PMID:
30099615
8.

Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.

Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.

J Natl Cancer Inst. 2018 Aug 7. doi: 10.1093/jnci/djy106. [Epub ahead of print]

PMID:
30099541
9.

General Principles for Preoperative Planning and Microsurgical Treatment of Pediatric Brain Arteriovenous Malformations: 2-Dimensional Operative Video.

Penn DL, Wu KC, Presswood KR, Riordan CP, Scott RM, Smith ER.

Oper Neurosurg (Hagerstown). 2018 Aug 7. doi: 10.1093/ons/opy206. [Epub ahead of print]

PMID:
30099539
10.

NCCN Guidelines Insights: Colorectal Cancer Screening, Version 1.2018.

Provenzale D, Gupta S, Ahnen DJ, Markowitz AJ, Chung DC, Mayer RJ, Regenbogen SE, Blanco AM, Bray T, Cooper G, Early DS, Ford JM, Giardiello FM, Grady W, Hall MJ, Halverson AL, Hamilton SR, Hampel H, Klapman JB, Larson DW, Lazenby AJ, Llor X, Lynch PM, Mikkelson J, Ness RM, Slavin TP Jr, Sugandha S, Weiss JM, Dwyer MA, Ogba N.

J Natl Compr Canc Netw. 2018 Aug;16(8):939-949. doi: 10.6004/jnccn.2018.0067.

PMID:
30099370
11.

Molecular Genetic Studies of Pancreatic Neuroendocrine Tumors: New Therapeutic Approaches.

Stevenson M, Lines KE, Thakker RV.

Endocrinol Metab Clin North Am. 2018 Sep;47(3):525-548. doi: 10.1016/j.ecl.2018.04.007. Review.

PMID:
30098714
12.

[Progress in genetic research on primary pulmonary hypertension].

Wang B, Wu Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):600-603. doi: 10.3760/cma.j.issn.1003-9406.2018.04.031. Chinese.

PMID:
30098265
13.

[Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency].

Shu K, Xu K, Li F, Chen T, Liu J, Jin S, Guo J, Zhang Z, Jiang M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):522-526. doi: 10.3760/cma.j.issn.1003-9406.2018.04.014. Chinese.

PMID:
30098248
14.

[Analysis of DSPP gene mutation in a Chinese pedigree affected with hereditary dentinogenesis imperfecta].

Hu A, Li X, Chen D, Lu T, Huang J, Xu X, Chen D, Xiong F.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):511-514. doi: 10.3760/cma.j.issn.1003-9406.2018.04.011. Chinese.

PMID:
30098245
15.

[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].

Liu Z, Liao H, Zhang X, Zhang H, Liu H, Wang H, Liu S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):498-501. doi: 10.3760/cma.j.issn.1003-9406.2018.04.008. Chinese.

PMID:
30098242
16.

Breast ultrasonography in the screening protocol for women at hereditary- familial risk of breast cancer: Has the time come to rethink the role of BU according to different risk categories?

Cortesi L, Canossi B, Battista R, Pecchi A, Drago A, Dal Molin C, Toss A, De Matteis E, Marchi I, Torricelli P, Cascinu S.

Int J Cancer. 2018 Aug 11. doi: 10.1002/ijc.31794. [Epub ahead of print]

PMID:
30098212
17.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A.

Eur J Neurol. 2018 Aug 11. doi: 10.1111/ene.13768. [Epub ahead of print]

PMID:
30098094
18.

Age- and height-adjusted total kidney volume growth rate in autosomal dominant polycystic kidney diseases.

Higashihara E, Yamamoto K, Kaname S, Okegawa T, Tanbo M, Yamaguchi T, Shigemori K, Miyazaki I, Yokoyama K, Nutahara K.

Clin Exp Nephrol. 2018 Jul 26. doi: 10.1007/s10157-018-1617-8. [Epub ahead of print]

PMID:
30097754
19.

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodríguez de Rivera Garrido FJ, Schöls L, Giordano I, Bürk K, Pandolfo M, Schulz JB; EFACTS Study Group.

Neurology. 2018 Aug 10. pii: 10.1212/WNL.0000000000006121. doi: 10.1212/WNL.0000000000006121. [Epub ahead of print]

PMID:
30097477
20.

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z, Ma L, Zhou J, Song Z, Zhang J, Wang K, Chen B, Pan D, Li Z, Li C, Shi Y.

BMC Med Genet. 2018 Aug 10;19(1):142. doi: 10.1186/s12881-018-0595-8.

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