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Items: 1 to 20 of 103

1.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, Reymond A.

Genome Med. 2016 Nov 1;8(1):105.

2.

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.

Neira-Fresneda J, Potocki L.

J Pediatr Genet. 2015 Sep;4(3):159-67. doi: 10.1055/s-0035-1564443. Review.

3.

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR.

Hum Genet. 2016 Oct;135(10):1161-74. doi: 10.1007/s00439-016-1703-5.

PMID:
27386852
4.

Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country.

Kurtovic-Kozaric A, Mehinovic L, Stomornjak-Vukadin M, Kurtovic-Basic I, Catibusic F, Kozaric M, Mesihovic-Dinarevic S, Hasanhodzic M, Glamuzina D.

Bosn J Basic Med Sci. 2016 Mar 3;16(2):121-5. doi: 10.17305/bjbms.2016.994.

5.

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR.

PLoS Genet. 2015 Dec 7;11(12):e1005686. doi: 10.1371/journal.pgen.1005686.

6.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR.

Am J Hum Genet. 2015 Nov 5;97(5):691-707. doi: 10.1016/j.ajhg.2015.10.003.

7.

Structural variation mutagenesis of the human genome: Impact on disease and evolution.

Lupski JR.

Environ Mol Mutagen. 2015 Jun;56(5):419-36. doi: 10.1002/em.21943. Review.

8.

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB.

J Clin Endocrinol Metab. 2015 May;100(5):1723-30. doi: 10.1210/jc.2014-4215.

9.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR.

Am J Hum Genet. 2014 Nov 6;95(5):565-78. doi: 10.1016/j.ajhg.2014.10.006.

10.

Single-nucleotide polymorphism array-based karyotyping of acute promyelocytic leukemia.

Gómez-Seguí I, Sánchez-Izquierdo D, Barragán E, Such E, Luna I, López-Pavía M, Ibáñez M, Villamón E, Alonso C, Martín I, Llop M, Dolz S, Fuster O, Montesinos P, Cañigral C, Boluda B, Salazar C, Cervera J, Sanz MA.

PLoS One. 2014 Jun 24;9(6):e100245. doi: 10.1371/journal.pone.0100245.

11.

The genetics of microdeletion and microduplication syndromes: an update.

Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC.

Annu Rev Genomics Hum Genet. 2014;15:215-44. doi: 10.1146/annurev-genom-091212-153408. Review.

12.

Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics.

Nikitina EA, Medvedeva AV, Zakharov GA, Savvateeva-Popova EV.

Acta Naturae. 2014 Jan;6(1):9-22.

13.

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.

Dubourg C, Bonnet-Brilhault F, Toutain A, Mignot C, Jacquette A, Dieux A, Gérard M, Beaumont-Epinette MP, Julia S, Isidor B, Rossi M, Odent S, Bendavid C, Barthélémy C, Verloes A, David V.

Mol Syndromol. 2014 Feb;5(2):57-64. doi: 10.1159/000357359.

14.

Analysis of the interaction between Zinc finger protein 179 (Znf179) and promyelocytic leukemia zinc finger (Plzf).

Lin DY, Huang CC, Hsieh YT, Lin HC, Pao PC, Tsou JH, Lai CY, Hung LY, Wang JM, Chang WC, Lee YC.

J Biomed Sci. 2013 Dec 20;20:98. doi: 10.1186/1423-0127-20-98.

15.

Disorders caused by chromosome abnormalities.

Theisen A, Shaffer LG.

Appl Clin Genet. 2010 Dec 10;3:159-74. doi: 10.2147/TACG.S8884.

16.

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.

Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE.

Am J Hum Genet. 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013.

17.

Mechanisms for recurrent and complex human genomic rearrangements.

Liu P, Carvalho CM, Hastings PJ, Lupski JR.

Curr Opin Genet Dev. 2012 Jun;22(3):211-20. doi: 10.1016/j.gde.2012.02.012. Review.

18.

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.

Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, Lupski JR.

Am J Hum Genet. 2011 Oct 7;89(4):580-8. doi: 10.1016/j.ajhg.2011.09.009.

19.

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.

PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861.

20.

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.

Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L.

Am J Med Genet A. 2011 Aug;155A(8):2024-7. doi: 10.1002/ajmg.a.34098. No abstract available.

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