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Items: 1 to 20 of 83

1.

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
2.

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
3.

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
4.

Spondylometaphyseal dysplasia-Sedaghatian type.

Elçioglu N, Hall CM.

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

PMID:
9556300
5.

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
6.

Spondylometaphyseal dysplasia-Sedaghatian type associated with intra-partum cardiac arrhythmia and neonatal death.

Mahendran SM, Wilcox FL, Chirumamila L.

J Obstet Gynaecol. 2007 Nov;27(8):851-3. No abstract available.

PMID:
18097914
7.

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
8.

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
9.

Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification.

Nakamura K, Kato M, Sasaki A, Kanai M, Hayasaka K.

J Child Neurol. 2012 Feb;27(2):218-21. doi: 10.1177/0883073811416239. Epub 2011 Sep 21.

PMID:
21940696
10.

Microcephaly associated with abnormal gyral pattern.

Sztriha L, Dawodu A, Gururaj A, Johansen JG.

Neuropediatrics. 2004 Dec;35(6):346-52.

PMID:
15627942
11.

Pontocerebellar hypoplasia type 3 with tetralogy of Fallot.

Jinnou H, Okanishi T, Enoki H, Ohki S.

Brain Dev. 2012 May;34(5):392-5. doi: 10.1016/j.braindev.2011.07.011. Epub 2011 Aug 30.

PMID:
21880448
12.

Spondylometaphyseal dysplasia: Sedaghatian type.

Koutouby A, Habibullah J, Moinuddin FA.

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

PMID:
10678656
13.

Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies.

Opitz JM, Spranger JW, Stöss HR, Pesch HJ, Azadeh B.

Am J Med Genet. 1987 Mar;26(3):583-90.

PMID:
3565474
14.

Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy.

Sarnat HB, Benjamin DR, Siebert JR, Kletter GB, Cheyette SR.

Pediatr Dev Pathol. 2002 Jan-Feb;5(1):54-68.

PMID:
11815869
15.

Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.

Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S.

Am J Med Genet. 2002 May 1;109(3):206-10.

PMID:
11977180
16.

Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia.

Miyata H, Chute DJ, Fink J, Villablanca P, Vinters HV.

Acta Neuropathol. 2004 Jan;107(1):69-81. Epub 2003 Oct 18.

PMID:
14566414
17.

Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.

Skórka A, Bielicka-Cymermann J, Gieruszczak-Białek D, Korniszewski L.

Genet Couns. 2005;16(4):377-82.

PMID:
16440880
18.
19.

Frank-Ter Haar syndrome in a newborn.

Femitha P, Joy R, Gane BD, Adhisivam B, Bhat BV.

Indian J Pediatr. 2012 Aug;79(8):1091-3. doi: 10.1007/s12098-011-0599-2. Epub 2011 Oct 29. Review.

PMID:
22037860
20.

Analysis and classification of cerebellar malformations.

Patel S, Barkovich AJ.

AJNR Am J Neuroradiol. 2002 Aug;23(7):1074-87.

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