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Results: 1 to 20 of 63285

1.

Genetic Features of Late Onset Primary Hemophagocytic Lymphohistiocytosis in Adolescence or Adulthood.

Wang Y, Wang Z, Zhang J, Wei Q, Tang R, Qi J, Li L, Ye L, Wang J, Ye L.

PLoS One. 2014 Sep 18;9(9):e107386. doi: 10.1371/journal.pone.0107386. eCollection 2014.

PMID:
25233452
[PubMed - as supplied by publisher]
Free Article
2.

Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling.

Butrick M, Kelly S, Peshkin BN, Luta G, Nusbaum R, Hooker GW, Graves K, Feeley L, Isaacs C, Valdimarsdottir HB, Jandorf L, DeMarco T, Wood M, McKinnon W, Garber J, McCormick SR, Schwartz MD.

Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.125. [Epub ahead of print]

PMID:
25232856
[PubMed - as supplied by publisher]
3.

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Xue Y, Ankala A, Wilcox WR, Hegde MR.

Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.122. [Epub ahead of print] Review.

PMID:
25232854
[PubMed - as supplied by publisher]
4.

Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.

Delgado F, Tabor HK, Chow PM, Conta JH, Feldman KW, Tsuchiya KD, Beck AE.

Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.119. [Epub ahead of print]

PMID:
25232848
[PubMed - as supplied by publisher]
5.

Carrier testing in children: exploration of genetic health professionals' practices in Australia.

Vears DF, Couns MG, Delany C, Gillam L.

Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.116. [Epub ahead of print]

PMID:
25232847
[PubMed - as supplied by publisher]
6.

Microarray analysis in gastric cancer: A review.

D'Angelo G, Di Rienzo T, Ojetti V.

World J Gastroenterol. 2014 Sep 14;20(34):11972-11976. Review.

PMID:
25232233
[PubMed - as supplied by publisher]
Free Article
7.

Mining Tissue-specific Contigs from Peanut (Arachis hypogaea L.) for Promoter Cloning by Deep Transcriptome Sequencing.

Geng L, Duan X, Liang C, Shu C, Song F, Zhang J.

Plant Cell Physiol. 2014 Sep 16. pii: pcu111. [Epub ahead of print]

PMID:
25231965
[PubMed - as supplied by publisher]
8.

Fetal Macrosomia and Neonatal Hyperinsulinemic Hypoglycemia Associated With Transplacental Transfer of Sulfonylurea in a Mother With KCNJ11-Related Neonatal Diabetes.

Myngheer N, Allegaert K, Hattersley A, McDonald T, Kramer H, Ashcroft FM, Verhaeghe J, Mathieu C, Casteels K.

Diabetes Care. 2014 Sep 17. pii: DC_141247. [Epub ahead of print]

PMID:
25231897
[PubMed - as supplied by publisher]
9.

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T, Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD, Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu E, Smith AV, Stolk L, Teumer A, Tšernikova N, Tikkanen E, Ulivi S, Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL, Mangino M, Pers TH, Yerges-Armstrong LM, Hua Zhao J, Andrulis IL, Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G, Collée JM, Couch FJ, Couper D, Coviello AD, Cox A, Czene K, D'adamo AP, Davey Smith G, De Vivo I, Demerath EW, Dennis J, Devilee P, Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia ME, García-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson DF, Gudnason V, Guénel P, Guo S, Hall P, Hamann U, Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S, Lambrechts D, Lindblom A, Mägi R, Magnusson PK, Mannermaa A, Martin NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou K, Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA, Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL, Peterlongo P, Peto J, Pharoah PD, Postma DS, Pouta A, Pylkäs K, Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A, Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio U, Stampfer MJ, Stöckl D, Storniolo AM, Timpson NJ, Tyrer J, Visser JA, Vollenweider P, Völzke H, Waeber G, Waldenberger M, Wallaschofski H, Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BH, Wright MJ; Australian Ovarian Cancer Study; The GENICA Network; kConFab; The LifeLines Cohort Study; The InterAct Consortium; Early Growth Genetics (EGG) Consortium, Boomsma DI, Econs MJ, Khaw KT, Loos RJ, McCarthy MI, Montgomery GW, Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn CM, Alizadeh BZ, Bergmann S, Boerwinkle E, Boyd HA, Crisponi L, Gasparini P, Gieger C, Harris TB, Ingelsson E, Järvelin MR, Kraft P, Lawlor D, Metspalu A, Pennell CE, Ridker PM, Snieder H, Sørensen TI, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM, Ong KK.

Nature. 2014 Jul 23. doi: 10.1038/nature13545. [Epub ahead of print]

PMID:
25231870
[PubMed - as supplied by publisher]
10.

Novel molecular approach demonstrates turbid river plumes reduce predation mortality on larval fish.

Carreon-Martinez LB, Wellband KW, Johnson TB, Ludsin SA, Heath DD.

Mol Ecol. 2014 Sep 18. doi: 10.1111/mec.12927. [Epub ahead of print]

PMID:
25231387
[PubMed - as supplied by publisher]
11.

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.

Lu Y, Zhou X, Jin Z, Cheng J, Shen W, Ji F, Liu L, Zhang X, Zhang M, Cao Y, Han D, Choy K, Yuan H.

J Hum Genet. 2014 Sep 18. doi: 10.1038/jhg.2014.78. [Epub ahead of print]

PMID:
25231367
[PubMed - as supplied by publisher]
12.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A.

Neurogenetics. 2014 Sep 18. [Epub ahead of print]

PMID:
25231362
[PubMed - as supplied by publisher]
13.

Selecting an appropriate genetic evaluation model for selection in a developing dairy sector.

McGill DM, Mulder HA, Thomson PC, Lievaart JJ.

Animal. 2014 Oct;8(10):1577-85. doi: 10.1017/S1751731114001682.

PMID:
25231279
[PubMed - in process]
14.

Novel Distal eQTL Analysis Demonstrates Effect of Population Genetic Architecture on Detecting and Interpreting Associations.

Weiser M, Mukherjee S, Furey TS.

Genetics. 2014 Sep 16. pii: genetics.114.167791. [Epub ahead of print]

PMID:
25230953
[PubMed - as supplied by publisher]
Free Article
15.

An unusual skin manifestation in a patient with peutz-jeghers syndrome.

Miraglia E, Ambrifi M, Persechino F, Visconti B, Calvieri S, Giustini S.

Acta Dermatovenerol Croat. 2014 Sep;22(3):213-4.

PMID:
25230064
[PubMed - in process]
16.

Mutagenic Effects of Ionizing Radiation on Immature Rat Oocytes.

Asakawa JI, Kamiguchi Y, Kamiya K, Nakamura N.

Radiat Res. 2014 Sep 17. [Epub ahead of print]

PMID:
25229977
[PubMed - as supplied by publisher]
17.

Human serum albumin-based nanoparticle-mediated in vitro gene delivery.

Langiu M, Dadparvar M, Kreuter J, Ruonala MO.

PLoS One. 2014 Sep 17;9(9):e107603. doi: 10.1371/journal.pone.0107603. eCollection 2014.

PMID:
25229502
[PubMed - in process]
Free Article
18.

Return of Results from Genomic Sequencing: A Policy Discussion of Secondary Findings for Cancer Predisposition.

Johnson KJ, Gehlert S.

J Cancer Policy. 2014 Sep 1;2(3):75-80.

PMID:
25229012
[PubMed]
19.

Recent advances in transthyretin amyloidosis therapy.

Ueda M, Ando Y.

Transl Neurodegener. 2014 Sep 13;3:19. doi: 10.1186/2047-9158-3-19. eCollection 2014. Review.

PMID:
25228988
[PubMed]
Free PMC Article
20.

Hypertrophic cardiomyopathy: Can the noninvasive diagnostic testing identify high risk patients?

Zhang L, Mmagu O, Liu L, Li D, Fan Y, Baranchuk A, Kowey PR.

World J Cardiol. 2014 Aug 26;6(8):764-70. doi: 10.4330/wjc.v6.i8.764. Review.

PMID:
25228955
[PubMed]
Free PMC Article

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