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Items: 1 to 20 of 232

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.

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.

3.

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
4.

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
5.

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
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.

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
8.

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
9.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.

Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17.

10.

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.

11.

Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).

Shim SH, Shim JS, Min K, Lee HS, Park JE, Park SH, Hwang E, Kim M.

Gene. 2014 Jan 15;534(1):100-6. doi: 10.1016/j.gene.2013.09.093. Epub 2013 Oct 2.

PMID:
24095776
12.

De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.

Chen CP, Lin SP, Huang YL, Chern SR, Su JW, Lee CC, Chen WL, Wang W.

Genet Couns. 2012;23(4):497-503.

PMID:
23431751
13.

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
14.

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G.

Am J Med Genet A. 2016 May;170A(5):1202-7. doi: 10.1002/ajmg.a.37560. Epub 2016 Jan 29.

PMID:
26822876
16.

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.

17.

Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism.

Hacıhamdioğlu B, Arslan M, Sarı E, Kurtçu K, Yesilkaya E.

J Pediatr Endocrinol Metab. 2013;26(7-8):793-5. doi: 10.1515/jpem-2012-0375.

PMID:
23645122
18.

Histone deacetylase-4 is required during early cranial neural crest development for generation of the zebrafish palatal skeleton.

DeLaurier A, Nakamura Y, Braasch I, Khanna V, Kato H, Wakitani S, Postlethwait JH, Kimmel CB.

BMC Dev Biol. 2012 Jun 7;12:16. doi: 10.1186/1471-213X-12-16.

19.

Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.

Fisch GS, Falk RE, Carey JC, Imitola J, Sederberg M, Caravalho KS, South S.

Am J Med Genet A. 2016 Sep;170(9):2282-91. doi: 10.1002/ajmg.a.37782. Epub 2016 Jun 9.

PMID:
27282419
20.

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.

Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.

PMID:
23239541

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