129 related articles for article (PubMed ID: 22529034)
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. PubMed ID: 22529034
[TBL] [Abstract][Full Text] [Related]
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; 140A(17):1854-8. PubMed ID: 16892303
[TBL] [Abstract][Full Text] [Related]
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; ; Majewski J; Bulman DE; Celik FC; Boycott KM; Graham GE
J Med Genet; 2014 Jul; 51(7):470-4. PubMed ID: 24706940
[TBL] [Abstract][Full Text] [Related]
4. Sedaghatian spondylometaphyseal dysplasia in two siblings.
Peshimam N; Farah H; Caswell R; Ellard S; Jan W; Calder AD; Cobben J; Kariholu U; Leitch HG
Eur J Med Genet; 2022 Aug; 65(8):104541. PubMed ID: 35718083
[TBL] [Abstract][Full Text] [Related]
5. Spondylometaphyseal dysplasia-Sedaghatian type.
Elçioglu N; Hall CM
Am J Med Genet; 1998 Apr; 76(5):410-4. PubMed ID: 9556300
[TBL] [Abstract][Full Text] [Related]
6. 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; 118A(4):377-81. PubMed ID: 12687672
[TBL] [Abstract][Full Text] [Related]
7. Spondylometaphyseal dysplasia, Sedaghatian type.
Peeden JN; Rimoin DL; Lachman RS; Dyer ML; Gerard D; Gruber HE
Am J Med Genet; 1992 Nov; 44(5):651-6. PubMed ID: 1481828
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 10955475
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 18097914
[No Abstract] [Full Text] [Related]
10. Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.
Fedida A; Ben Harouch S; Kalfon L; Abunassar Z; Omari H; Mandel H; Falik-Zaccai TC
Eur J Med Genet; 2020 Nov; 63(11):104020. PubMed ID: 32827718
[TBL] [Abstract][Full Text] [Related]
11. Spondylometaphyseal dysplasia: Sedaghatian type.
Koutouby A; Habibullah J; Moinuddin FA
Am J Med Genet; 2000 Jan; 90(3):199-202. PubMed ID: 10678656
[TBL] [Abstract][Full Text] [Related]
12. Clinical features and neuroimaging (CT and MRI) findings in presumed Zika virus related congenital infection and microcephaly: retrospective case series study.
de Fatima Vasco Aragao M; van der Linden V; Brainer-Lima AM; Coeli RR; Rocha MA; Sobral da Silva P; Durce Costa Gomes de Carvalho M; van der Linden A; Cesario de Holanda A; Valenca MM
BMJ; 2016 Apr; 353():i1901. PubMed ID: 27075009
[TBL] [Abstract][Full Text] [Related]
13. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N; Poirier K; Fourniol F; Saillour Y; Valence S; Lebrun N; Hully M; Bianco CF; Boddaert N; Elie C; Lascelles K; Souville I; ; Beldjord C; Chelly J
Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
[TBL] [Abstract][Full Text] [Related]
14. Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia.
Sztriha L; Johansen JG; Al-Gazali LI
J Child Neurol; 2005 Feb; 20(2):170-2. PubMed ID: 15794192
[TBL] [Abstract][Full Text] [Related]
15. Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity.
Chatur C; Balani A; Vadapalli R; Murthy MG
Can J Neurol Sci; 2019 Nov; 46(6):760-761. PubMed ID: 31352912
[TBL] [Abstract][Full Text] [Related]
16. Microcephaly associated with abnormal gyral pattern.
Sztriha L; Dawodu A; Gururaj A; Johansen JG
Neuropediatrics; 2004 Dec; 35(6):346-52. PubMed ID: 15627942
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 3565474
[TBL] [Abstract][Full Text] [Related]
18. Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities.
Cheff DM; Muotri AR; Stockwell BR; Schmidt EE; Ran Q; Kartha RV; Johnson SC; Mittal P; Arnér ESJ; Wigby KM; Hall MD; Ramesh SK
Orphanet J Rare Dis; 2021 Oct; 16(1):446. PubMed ID: 34688299
[TBL] [Abstract][Full Text] [Related]
19. Pontocerebellar hypoplasia type 3 with tetralogy of Fallot.
Jinnou H; Okanishi T; Enoki H; Ohki S
Brain Dev; 2012 May; 34(5):392-5. PubMed ID: 21880448
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 21940696
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
