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Items: 1 to 20 of 96

1.

An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.

Matsumoto A, Kuwajima M, Miyake K, Kojima K, Nakashima N, Jimbo EF, Kubota T, Momoi MY, Yamagata T.

J Hum Genet. 2013 Nov;58(11):755-7. doi: 10.1038/jhg.2013.88. Epub 2013 Aug 29.

PMID:
23985797
2.

A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.

Tejada MI, Martínez-Bouzas C, García-Ribes A, Larrucea S, Acquadro F, Cigudosa JC, Belet S, Froyen G, López-Aríztegui MA.

Pediatrics. 2011 Oct;128(4):e1029-33. doi: 10.1542/peds.2010-0388. Epub 2011 Sep 19.

PMID:
21930553
3.

625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.

Bertini V, Cambi F, Bruno R, Toschi B, Forli F, Berrettini S, Simi P, Valetto A.

J Hum Genet. 2015 Dec;60(12):777-80. doi: 10.1038/jhg.2015.106. Epub 2015 Sep 10.

PMID:
26354035
4.

The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

Nishimoto HK, Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG.

Am J Med Genet A. 2014 Sep;164A(9):2172-9. doi: 10.1002/ajmg.a.36488. Epub 2014 Jul 7.

PMID:
25044551
5.

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A.

Clin Genet. 2006 Aug;70(2):161-6.

PMID:
16879200
6.
7.

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA.

Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2.

PMID:
20132918
8.

Array CGH analysis of a cohort of Russian patients with intellectual disability.

Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN.

Gene. 2014 Feb 15;536(1):145-50. doi: 10.1016/j.gene.2013.11.029. Epub 2013 Nov 27.

PMID:
24291026
9.

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Labonne JD, Chung MJ, Jones JR, Anand P, Wenzel W, Iacoboni D, Layman LC, Kim HG.

Gene. 2016 Jan 1;575(1):42-7. doi: 10.1016/j.gene.2015.08.032. Epub 2015 Aug 20.

PMID:
26297997
10.

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G.

Clin Genet. 2006 Dec;70(6):509-15.

11.

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.

Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E.

Am J Med Genet A. 2005 Dec 15;139(3):173-85.

PMID:
16283669
12.

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

Polan MB, Pastore MT, Steingass K, Hashimoto S, Thrush DL, Pyatt R, Reshmi S, Gastier-Foster JM, Astbury C, McBride KL.

Eur J Hum Genet. 2014 Jan;22(1):105-9. doi: 10.1038/ejhg.2013.99. Epub 2013 May 22.

13.

Coffin-Lowry syndrome.

Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A.

Eur J Hum Genet. 2010 Jun;18(6):627-33. doi: 10.1038/ejhg.2009.189. Epub 2009 Nov 4. Review.

14.

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.

Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S, Dempfle A, Heine M, Boreatti-Hümmer A, Romanos J, Gross-Lesch S, Zerlaut H, Wultsch T, Heinzel S, Fassnacht M, Fallgatter A, Allolio B, Schäfer H, Warnke A, Reif A, Ropers HH, Ullmann R.

Mol Psychiatry. 2011 May;16(5):491-503. doi: 10.1038/mp.2010.29. Epub 2010 Mar 23.

PMID:
20308990
15.

Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).

Walters-Sen LC, Windemuth K, Angione K, Nandhlal J, Milunsky JM.

Eur J Med Genet. 2015 May;58(5):305-9. doi: 10.1016/j.ejmg.2015.03.004. Epub 2015 Apr 6.

PMID:
25858703
16.

Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.

Melchior L, Bertelsen B, Debes NM, Groth C, Skov L, Mikkelsen JD, Brøndum-Nielsen K, Tümer Z.

Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):825-31. doi: 10.1002/ajmg.b.32186. Epub 2013 Jul 27.

PMID:
23894120
17.

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L.

Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4.

PMID:
22488896
18.

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.

Wiśniowiecka-Kowalnik B, Nesteruk M, Peters SU, Xia Z, Cooper ML, Savage S, Amato RS, Bader P, Browning MF, Haun CL, Duda AW 3rd, Cheung SW, Stankiewicz P.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):983-93. doi: 10.1002/ajmg.b.31064.

PMID:
20162629
19.

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD.

Boycott KM, Parslow MI, Ross JL, Miller IP, Bech-Hansen NT, MacLeod PM.

Am J Med Genet A. 2003 Oct 1;122A(2):139-47.

PMID:
12955766
20.

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome.

Schneider A, Maas SM, Hennekam RC, Hanauer A.

Eur J Med Genet. 2013 Mar;56(3):150-2. doi: 10.1016/j.ejmg.2012.11.007. Epub 2012 Dec 20.

PMID:
23261961

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