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Items: 1 to 20 of 127

1.

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.

Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G.

Am J Hum Genet. 2009 Dec;85(6):916-22. doi: 10.1016/j.ajhg.2009.11.005.

2.

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):230-7. doi: 10.1002/ajmg.c.31339. Epub 2012 Jul 12.

PMID:
22791571
3.

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Faivre L, Le Merrer M, Al-Gazali LI, Ausems MG, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V.

J Med Genet. 2003 Apr;40(4):282-4.

4.

Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.

Am J Med Genet A. 2006 Jun 1;140(11):1189-95.

PMID:
16637051
5.

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Smithson SF, Grier D, Hall CM.

Clin Dysmorphol. 2009 Jan;18(1):31-5. doi: 10.1097/MCD.0b013e3283189762.

PMID:
19050402
6.

PAPSS2 mutations cause autosomal recessive brachyolmia.

Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S.

J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11.

PMID:
22791835
7.

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML.

Am J Hum Genet. 1998 Jul;63(1):155-62.

8.

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.

Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH.

Am J Med Genet. 1998 Aug 6;78(5):468-73.

PMID:
9714015
9.

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG.

Am J Med Genet A. 2003 Oct 15;122A(3):187-92.

PMID:
12966518
10.

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow Y.

Eur J Med Genet. 2006 Sep-Oct;49(5):396-401. Epub 2006 Feb 9.

PMID:
16497573
11.
12.

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.

Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26.

PMID:
23824674
13.

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

Menger H, Mundlos S, Becker K, Spranger J, Zabel B.

Am J Med Genet. 1996 May 3;63(1):80-3.

PMID:
8723091
14.

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.

Iseri SU, Wyatt AW, Nürnberg G, Kluck C, Nürnberg P, Holder GE, Blair E, Salt A, Ragge NK.

Hum Genet. 2010 Jul;128(1):51-60. doi: 10.1007/s00439-010-0823-6. Epub 2010 Apr 23.

PMID:
20414678
15.
16.

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1274-80.

PMID:
16565358
17.

The role of Nkx3.2 in chondrogenesis.

Rainbow RS, Won HK, Zeng L.

Front Biol (Beijing). 2014 Oct;9(5):376-381. Epub 2014 Jul 7.

18.

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia.

Agarwal PP, Srinivasan A, Sharma R, Kabra M, Gupta AK.

Pediatr Radiol. 2003 Dec;33(12):893-6. Epub 2003 Sep 6.

PMID:
13680008
19.

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.

Am J Hum Genet. 2000 Feb;66(2):368-77.

20.

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL.

Am J Hum Genet. 2003 Feb;72(2):419-28. Epub 2002 Dec 16.

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