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Items: 1 to 20 of 100

1.

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Ghoumid J, Andrieux J, Sablonnière B, Odent S, Philippe N, Zanlonghi X, Saugier-Veber P, Bardyn T, Manouvrier-Hanu S, Holder-Espinasse M.

Eur J Hum Genet. 2011 Nov;19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8.

2.

A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.

Tsai LP, Liao HM, Chen YJ, Fang JS, Chen CH.

Clin Genet. 2009 May;75(5):449-56. doi: 10.1111/j.1399-0004.2008.01147.x.

PMID:
19459884
3.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S.

Eur J Hum Genet. 2010 Dec;18(12):1310-4. doi: 10.1038/ejhg.2010.116. Epub 2010 Jul 21.

4.

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.

Cho TJ, Kim OH, Choi IH, Nishimura G, Superti-Furga A, Kim KS, Lee YJ, Park WY.

J Med Genet. 2010 Sep;47(9):638-9. doi: 10.1136/jmg.2009.074690. Epub 2010 Jun 24.

PMID:
20577005
5.

Breakpoints around the HOXD cluster result in various limb malformations.

Dlugaszewska B, Silahtaroglu A, Menzel C, Kübart S, Cohen M, Mundlos S, Tümer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM.

J Med Genet. 2006 Feb;43(2):111-8. Epub 2005 Jun 24.

6.

[Genetic analysis of a Chinese pedigree with congenital synpolydactyly].

Qin W, Shu AL, Xing QH, Yang MS, Feng GY, He L.

Yi Chuan Xue Bao. 2003 Oct;30(10):973-7. Chinese.

PMID:
14669516
7.

Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

Dai L, Liu D, Song M, Xu X, Xiong G, Yang K, Zhang K, Meng H, Guo H, Bai Y.

PLoS One. 2014 May 1;9(5):e96192. doi: 10.1371/journal.pone.0096192. eCollection 2014. Erratum in: PLoS One. 2014;9(7):e104309.

8.

Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.

Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W.

Am J Hum Genet. 1999 Jul;65(1):104-10.

9.

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P.

J Med Genet. 2011 Feb;48(2):98-104. doi: 10.1136/jmg.2010.079491. Epub 2010 Nov 10.

PMID:
21068127
10.

A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia.

Lim BC, Min BJ, Park WY, Oh SK, Woo MJ, Choi JS, Kim KJ, Hwang YS, Chae JH.

J Child Neurol. 2014 Feb;29(2):260-4. doi: 10.1177/0883073813478659. Epub 2013 Mar 1.

PMID:
23456534
11.

An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

Kan SH, Johnson D, Giele H, Wilkie AO.

Am J Med Genet A. 2003 Aug 15;121A(1):69-74.

PMID:
12900906
12.

A patient with five chromosomal rearrangements and a 2q31.1 microdeletion.

Wang T, Mao J, Liu MJ, Choy KW, Li HB, Cram DS, Li H, Chen Y.

Clin Chim Acta. 2014 Mar 20;430:129-33. doi: 10.1016/j.cca.2014.01.002. Epub 2014 Jan 9.

PMID:
24412318
13.

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X.

Am J Hum Genet. 2007 Feb;80(2):361-71. Epub 2007 Jan 3.

14.
15.

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P.

Am J Hum Genet. 1998 Oct;63(4):992-1000.

16.

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

Goodman FR, Majewski F, Collins AL, Scambler PJ.

Am J Hum Genet. 2002 Feb;70(2):547-55. Epub 2002 Jan 3.

17.

Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR.

Am J Med Genet A. 2007 Jun 15;143A(12):1348-53.

PMID:
17506097
18.

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.

Johnson KR, Sweet HO, Donahue LR, Ward-Bailey P, Bronson RT, Davisson MT.

Hum Mol Genet. 1998 Jun;7(6):1033-8.

PMID:
9580668
19.

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

Muragaki Y, Mundlos S, Upton J, Olsen BR.

Science. 1996 Apr 26;272(5261):548-51.

PMID:
8614804
20.

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.

Sifakis S, Eleftheriades M, Kappou D, Murru R, Konstantinidou A, Orru S, Ziegler M, Liehr T, Manolakos E, Papoulidis I.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):284-93. doi: 10.1002/bdra.23213. Epub 2014 Feb 12. Review.

PMID:
24677675

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