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Items: 1 to 20 of 94

1.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.

Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P.

Nat Genet. 2009 Dec;41(12):1269-71. doi: 10.1038/ng.481. Epub 2009 Nov 8.

2.

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.

Hoppman-Chaney N, Wain K, Seger PR, Superneau DW, Hodge JC.

Clin Genet. 2013 Apr;83(4):345-51. doi: 10.1111/j.1399-0004.2012.01925.x. Epub 2012 Aug 7.

PMID:
22775350
3.

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Liao J, DeWard SJ, Madan-Khetarpal S, Surti U, Hu J.

Am J Med Genet A. 2011 Nov;155A(11):2795-800. doi: 10.1002/ajmg.a.34237. Epub 2011 Oct 11.

PMID:
21990074
4.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE.

Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17.

5.

A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.

Ehmke N, Karge S, Buchmann J, Korinth D, Horn D, Reis O, Häßler F.

Am J Med Genet A. 2017 May;173(5):1251-1256. doi: 10.1002/ajmg.a.38145. Epub 2017 Mar 27.

PMID:
28345786
6.

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Popovici C, Busa T, Missirian C, Milh M, Moncla A, Philip N.

Eur J Med Genet. 2013 May;56(5):274-7. doi: 10.1016/j.ejmg.2013.02.005. Epub 2013 Feb 27.

7.

Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder.

Kogan JH, Gross AK, Featherstone RE, Shin R, Chen Q, Heusner CL, Adachi M, Lin A, Walton NM, Miyoshi S, Miyake S, Tajinda K, Ito H, Siegel SJ, Matsumoto M.

J Neurosci. 2015 Dec 9;35(49):16282-94. doi: 10.1523/JNEUROSCI.3967-14.2015.

8.

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.

Spielmann M, Reichelt G, Hertzberg C, Trimborn M, Mundlos S, Horn D, Klopocki E.

Eur J Med Genet. 2011 Jul-Aug;54(4):e441-5. doi: 10.1016/j.ejmg.2011.04.004. Epub 2011 Apr 29.

PMID:
21596161
9.

Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.

Prasun P, Hankerd M, Kristofice M, Scussel L, Sivaswamy L, Ebrahim S.

Am J Med Genet A. 2014 Jul;164A(7):1815-20. doi: 10.1002/ajmg.a.36535. Epub 2014 Apr 3. Review.

PMID:
24700535
10.

Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.

Le Pichon JB, Yu S, Kibiryeva N, Graf WD, Bittel DC.

Eur J Hum Genet. 2013 Oct;21(10):1093-9. doi: 10.1038/ejhg.2013.1. Epub 2013 Jan 30.

11.

The human clinical phenotypes of altered CHRNA7 copy number.

Gillentine MA, Schaaf CP.

Biochem Pharmacol. 2015 Oct 15;97(4):352-62. doi: 10.1016/j.bcp.2015.06.012. Epub 2015 Jun 18. Review.

12.

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

Ramocki MB, Bartnik M, Szafranski P, Kołodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino CA, Patel A, Bocian E, Shaw CA, Cheung SW, Mazurczak T, Stankiewicz P.

Am J Hum Genet. 2010 Dec 10;87(6):857-65. doi: 10.1016/j.ajhg.2010.10.019. Epub 2010 Nov 25.

13.

The 15q13.3 deletion syndrome: Deficient α(7)-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders.

Deutsch SI, Burket JA, Benson AD, Urbano MR.

Prog Neuropsychopharmacol Biol Psychiatry. 2016 Jan 4;64:109-17. doi: 10.1016/j.pnpbp.2015.08.001. Epub 2015 Aug 7. Review.

PMID:
26257138
14.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.

J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15.

15.

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.

Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I.

Epilepsy Res. 2014 Jan;108(1):109-16. doi: 10.1016/j.eplepsyres.2013.10.001. Epub 2013 Oct 26.

PMID:
24246141
16.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

Masurel-Paulet A, Drumare I, Holder M, Cuisset JM, Vallée L, Defoort S, Bourgois B, Pernes P, Cuvellier JC, Huet F, Chehadeh SE, Thevenon J, Callier P, Thauvin C, Faivre L, Andrieux J.

Am J Med Genet A. 2014 Jun;164A(6):1537-44. doi: 10.1002/ajmg.a.36471. Epub 2014 Mar 25.

PMID:
24668847
17.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T.

J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15.

18.

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP.

Eur J Hum Genet. 2014 Sep;22(9):1071-6. doi: 10.1038/ejhg.2013.302. Epub 2014 Jan 15.

19.

Clinical utility gene card for: 15q13.3 microdeletion syndrome.

Tropeano M, Andrieux J, Vassos E, Collier DA.

Eur J Hum Genet. 2014 Nov;22(11). doi: 10.1038/ejhg.2014.88. Epub 2014 May 14. No abstract available.

20.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.

J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19.

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