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Items: 1 to 20 of 181

1.

PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.

Maili L, Letra A, Silva R, Buchanan EP, Mulliken JB, Greives MR, Teichgraeber JF, Blackwell SJ, Ummer R, Weber R, Chiquet B, Blanton SH, Hecht JT.

Birth Defects Res. 2019 Dec 11. doi: 10.1002/bdr2.1630. [Epub ahead of print]

PMID:
31825181
2.
3.

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y.

Genet Med. 2019 Dec;21(12):2744-2754. doi: 10.1038/s41436-019-0594-y. Epub 2019 Jul 5.

PMID:
31273342
4.

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

D'Aguillo C, Bressler S, Yan D, Mittal R, Fifer R, Blanton SH, Liu X.

Int J Audiol. 2019 Dec;58(12):834-850. doi: 10.1080/14992027.2019.1632499. Epub 2019 Jul 2.

PMID:
31264897
5.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.

6.

Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate.

Barba A, Urbina C, Maili L, Greives MR, Blackwell SJ, Mulliken JB, Chiquet B, Blanton SH, Hecht JT, Letra A.

Birth Defects Res. 2019 Jul 1;111(11):659-665. doi: 10.1002/bdr2.1504. Epub 2019 Apr 5.

PMID:
30953423
7.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426.

PMID:
30706531
8.

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.

Chauhan G, Adams HHH, Satizabal CL, Bis JC, Teumer A, Sargurupremraj M, Hofer E, Trompet S, Hilal S, Smith AV, Jian X, Malik R, Traylor M, Pulit SL, Amouyel P, Mazoyer B, Zhu YC, Kaffashian S, Schilling S, Beecham GW, Montine TJ, Schellenberg GD, Kjartansson O, Guðnason V, Knopman DS, Griswold ME, Windham BG, Gottesman RF, Mosley TH, Schmidt R, Saba Y, Schmidt H, Takeuchi F, Yamaguchi S, Nabika T, Kato N, Rajan KB, Aggarwal NT, De Jager PL, Evans DA, Psaty BM, Rotter JI, Rice K, Lopez OL, Liao J, Chen C, Cheng CY, Wong TY, Ikram MK, van der Lee SJ, Amin N, Chouraki V, DeStefano AL, Aparicio HJ, Romero JR, Maillard P, DeCarli C, Wardlaw JM, Hernández MDCV, Luciano M, Liewald D, Deary IJ, Starr JM, Bastin ME, Muñoz Maniega S, Slagboom PE, Beekman M, Deelen J, Uh HW, Lemmens R, Brodaty H, Wright MJ, Ames D, Boncoraglio GB, Hopewell JC, Beecham AH, Blanton SH, Wright CB, Sacco RL, Wen W, Thalamuthu A, Armstrong NJ, Chong E, Schofield PR, Kwok JB, van der Grond J, Stott DJ, Ford I, Jukema JW, Vernooij MW, Hofman A, Uitterlinden AG, van der Lugt A, Wittfeld K, Grabe HJ, Hosten N, von Sarnowski B, Völker U, Levi C, Jimenez-Conde J, Sharma P, Sudlow CLM, Rosand J, Woo D, Cole JW, Meschia JF, Slowik A, Thijs V, Lindgren A, Melander O, Grewal RP, Rundek T, Rexrode K, Rothwell PM, Arnett DK, Jern C, Johnson JA, Benavente OR, Wasssertheil-Smoller S, Lee JM, Wong Q, Mitchell BD, Rich SS, McArdle PF, Geerlings MI, van der Graaf Y, de Bakker PIW, Asselbergs FW, Srikanth V, Thomson R, McWhirter R, Moran C, Callisaya M, Phan T, Rutten-Jacobs LCA, Bevan S, Tzourio C, Mather KA, Sachdev PS, van Duijn CM, Worrall BB, Dichgans M, Kittner SJ, Markus HS, Ikram MA, Fornage M, Launer LJ, Seshadri S, Longstreth WT Jr, Debette S; Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Neurology. 2019 Jan 16. pii: 10.1212/WNL.0000000000006851. doi: 10.1212/WNL.0000000000006851. [Epub ahead of print]

9.

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.

Li C, Bademci G, Subasioglu A, Diaz-Horta O, Zhu Y, Liu J, Mitchell TG, Abad C, Seyhan S, Duman D, Cengiz FB, Tokgoz-Yilmaz S, Blanton SH, Farooq A, Walz K, Zhai RG, Tekin M.

Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1347-1352. doi: 10.1073/pnas.1810951116. Epub 2019 Jan 4.

10.

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Morris AP, Le TH, Wu H, Akbarov A, van der Most PJ, Hemani G, Smith GD, Mahajan A, Gaulton KJ, Nadkarni GN, Valladares-Salgado A, Wacher-Rodarte N, Mychaleckyj JC, Dueker ND, Guo X, Hai Y, Haessler J, Kamatani Y, Stilp AM, Zhu G, Cook JP, Ärnlöv J, Blanton SH, de Borst MH, Bottinger EP, Buchanan TA, Cechova S, Charchar FJ, Chu PL, Damman J, Eales J, Gharavi AG, Giedraitis V, Heath AC, Ipp E, Kiryluk K, Kramer HJ, Kubo M, Larsson A, Lindgren CM, Lu Y, Madden PAF, Montgomery GW, Papanicolaou GJ, Raffel LJ, Sacco RL, Sanchez E, Stark H, Sundstrom J, Taylor KD, Xiang AH, Zivkovic A, Lind L, Ingelsson E, Martin NG, Whitfield JB, Cai J, Laurie CC, Okada Y, Matsuda K, Kooperberg C, Chen YI, Rundek T, Rich SS, Loos RJF, Parra EJ, Cruz M, Rotter JI, Snieder H, Tomaszewski M, Humphreys BD, Franceschini N.

Nat Commun. 2019 Jan 3;10(1):29. doi: 10.1038/s41467-018-07867-7.

11.

FOXF2 is required for cochlear development in humans and mice.

Bademci G, Abad C, Incesulu A, Elian F, Reyahi A, Diaz-Horta O, Cengiz FB, Sineni CJ, Seyhan S, Atli EI, Basmak H, Demir S, Nik AM, Footz T, Guo S, Duman D, Fitoz S, Gurkan H, Blanton SH, Walter MA, Carlsson P, Walz K, Tekin M.

Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431.

PMID:
30561639
12.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M.

Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7.

13.

BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.

Rodriguez N, Maili L, Chiquet BT, Blanton SH, Hecht JT, Letra A.

Birth Defects Res. 2018 Jul 17;110(12):1043-1048. doi: 10.1002/bdr2.1346. Epub 2018 Jun 19.

14.

Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes.

Chiquet BT, Yuan Q, Swindell EC, Maili L, Plant R, Dyke J, Boyer R, Teichgraeber JF, Greives MR, Mulliken JB, Letra A, Blanton SH, Hecht JT.

Eur J Hum Genet. 2018 Oct;26(10):1441-1450. doi: 10.1038/s41431-018-0192-5. Epub 2018 Jun 13.

15.

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

Wang L, Feng Y, Yan D, Qin L, Grati M, Mittal R, Li T, Sundhari AK, Liu Y, Chapagain P, Blanton SH, Liao S, Liu X.

Hum Genet. 2018 Jul;137(6-7):437-446. doi: 10.1007/s00439-018-1895-y. Epub 2018 Jun 2.

16.

Precision medicine in hearing loss.

Rudman JR, Mei C, Bressler SE, Blanton SH, Liu XZ.

J Genet Genomics. 2018 Feb 20;45(2):99-109. doi: 10.1016/j.jgg.2018.02.004. Epub 2018 Feb 16. Review.

PMID:
29500086
17.

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

Mittal R, Patel AP, Nguyen D, Pan DR, Jhaveri VM, Rudman JR, Dharmaraja A, Yan D, Feng Y, Chapagain P, Lee DJ, Blanton SH, Liu XZ.

Gene. 2018 Mar 20;647:297-305. doi: 10.1016/j.gene.2018.01.027. Epub 2018 Jan 10. Review.

18.

Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families.

Dueker ND, Guo S, Beecham A, Wang L, Blanton SH, Di Tullio MR, Rundek T, Sacco RL.

G3 (Bethesda). 2018 Feb 2;8(2):659-668. doi: 10.1534/g3.117.300358.

19.

Apolipoprotein E Gene Polymorphism and Subclinical Carotid Atherosclerosis: The Northern Manhattan Study.

Doliner B, Dong C, Blanton SH, Gardener H, Elkind MSV, Sacco RL, Demmer RT, Desvarieux M, Rundek T.

J Stroke Cerebrovasc Dis. 2018 Mar;27(3):645-652. doi: 10.1016/j.jstrokecerebrovasdis.2017.09.053. Epub 2017 Nov 2.

20.

Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities.

Beecham A, Dong C, Wright CB, Dueker N, Brickman AM, Wang L, DeCarli C, Blanton SH, Rundek T, Mayeux R, Sacco RL.

Neurol Genet. 2017 Sep 25;3(5):e185. doi: 10.1212/NXG.0000000000000185. eCollection 2017 Oct.

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