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Similar articles for PubMed (Select 20691407)

1.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.

Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011.

2.

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.

Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A, Yardin C, Elsea SH.

Am J Med Genet A. 2012 Aug;158A(8):2015-20. doi: 10.1002/ajmg.a.35463. Epub 2012 Jun 29.

PMID:
22753018
3.

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.

Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D.

Eur J Hum Genet. 2013 Jul;21(7):743-8. doi: 10.1038/ejhg.2012.240. Epub 2012 Nov 28.

4.

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois MC, Philippe A, Vekemans M, Romana SP.

Eur J Med Genet. 2006 May-Jun;49(3):255-63. Epub 2005 Aug 18.

PMID:
16762827
5.

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH.

J Med Genet. 2005 Nov;42(11):820-8. Epub 2005 Mar 23.

6.

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

Jean-Marçais N, Decamp M, Gérard M, Ribault V, Andrieux J, Kottler ML, Plessis G.

Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428. Epub 2014 Nov 17.

PMID:
25402011
7.

Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.

Ogura K, Takeshita K, Arakawa C, Shimojima K, Yamamoto T.

Am J Med Genet B Neuropsychiatr Genet. 2014 Dec;165B(8):684-90. doi: 10.1002/ajmg.b.32274. Epub 2014 Oct 20.

PMID:
25329715
8.

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al.

Am J Hum Genet. 1995 Feb;56(2):400-7.

9.

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.

Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, Monico CG, Suphapeetiporn K, Shotelersuk V.

Am J Med Genet A. 2012 Sep;158A(9):2124-30. doi: 10.1002/ajmg.a.35495. Epub 2012 Jul 20.

PMID:
22821680
10.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG.

J Med Genet. 2009 Sep;46(9):598-606. doi: 10.1136/jmg.2008.062950. Epub 2009 Mar 4.

PMID:
19264732
11.

Mutations in RAI1 associated with Smith-Magenis syndrome.

Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH.

Nat Genet. 2003 Apr;33(4):466-8. Epub 2003 Mar 24.

PMID:
12652298
12.

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.

Am J Med Genet A. 2006 Nov 15;140(22):2454-63.

PMID:
17041942
13.

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.

Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH.

J Med Genet. 2010 Apr;47(4):223-9. doi: 10.1136/jmg.2009.068072. Epub 2009 Sep 14.

PMID:
19752160
14.

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH.

Genet Med. 2006 Jul;8(7):417-27.

PMID:
16845274
15.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.

PMID:
16053902
16.

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Duncan WC, Smith AC.

Pediatr Neurol. 2006 May;34(5):337-50. Review.

PMID:
16647992
17.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR.

Hum Genet. 2004 Nov;115(6):515-24. Epub 2004 Sep 30.

PMID:
15565467
19.

Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.

Wheeler PG, Huang D, Dai Z.

Am J Med Genet A. 2014 Jul;164A(7):1826-9. doi: 10.1002/ajmg.a.36542. Epub 2014 Apr 8.

PMID:
24715439
20.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
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