Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 147

1.

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE.

J Med Genet. 2014 Jul;51(7):470-4. doi: 10.1136/jmedgenet-2013-102218. Epub 2014 Apr 4.

PMID:
24706940
2.

A female case of Sedaghatian type spondylometaphyseal dysplasia.

Foulds N, Fairhurst J, Temple IK, Cade S, Groves C, Lancaster T.

Am J Med Genet A. 2003 May 1;118A(4):377-81.

PMID:
12687672
3.

Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings.

Kerr B, Smith V, Patel R, Ladusans E, Sillence DO.

Clin Dysmorphol. 2000 Jul;9(3):167-72.

PMID:
10955475
4.

Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.

Jeon GW, Lee MN, Jung JM, Hong SY, Kim YN, Sin JB, Ki CS.

Ann Lab Med. 2014 Mar;34(2):134-8. doi: 10.3343/alm.2014.34.2.134. Epub 2014 Feb 13.

5.

Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.

Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L.

Am J Med Genet A. 2012 Jun;158A(6):1400-5. doi: 10.1002/ajmg.a.35306. Epub 2012 Apr 23. Review.

PMID:
22529034
6.

Grebe dysplasia and the spectrum of CDMP1 mutations.

Stelzer C, Winterpacht A, Spranger J, Zabel B.

Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):77-85.

PMID:
12687891
7.

Mutations in PIK3R1 cause SHORT syndrome.

Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM.

Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27.

8.

Spondylometaphyseal dysplasia: Sedaghatian type.

Koutouby A, Habibullah J, Moinuddin FA.

Am J Med Genet. 2000 Jan 31;90(3):199-202.

PMID:
10678656
9.

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.

10.

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P.

Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16.

11.

Spondylometaphyseal dysplasia-Sedaghatian type.

Elçioglu N, Hall CM.

Am J Med Genet. 1998 Apr 13;76(5):410-4. Review.

PMID:
9556300
12.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.

PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747. eCollection 2014.

13.

A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.

Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, Tsumaki N, Kataoka E, Fujita Y, Ochi T.

J Hum Genet. 2000;45(2):105-8.

PMID:
10721676
14.

Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum.

English SJ, Gayatri N, Arthur R, Crow YJ.

Am J Med Genet A. 2006 Sep 1;140A(17):1854-8.

PMID:
16892303
15.

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.

Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV.

Ophthalmic Genet. 2015;36(4):333-8. doi: 10.3109/13816810.2014.886269. Epub 2014 Feb 19.

PMID:
24547928
16.

Spondylometaphyseal dysplasia, Sedaghatian type.

Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE.

Am J Med Genet. 1992 Nov 15;44(5):651-6.

PMID:
1481828
17.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM.

Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26.

18.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.

Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26.

PMID:
27888646
19.

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.

Hum Genet. 2003 Jan;112(1):84-90. Epub 2002 Oct 29.

PMID:
12483304
20.

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.

Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S.

J Med Genet. 2007 Apr;44(4):e73.

Supplemental Content

Support Center