175 related articles for article (PubMed ID: 30773800)
1. Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
Catania A; Legati A; Peverelli L; Nanetti L; Marchet S; Zanetti N; Lamperti C; Ghezzi D
Am J Med Genet A; 2019 May; 179(5):827-831. PubMed ID: 30773800
[TBL] [Abstract][Full Text] [Related]
2. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Vincent A; Forster N; Maynes JT; Paton TA; Billingsley G; Roslin NM; Ali A; Sutherland J; Wright T; Westall CA; Paterson AD; Marshall CR; ; Héon E
J Med Genet; 2014 Dec; 51(12):797-805. PubMed ID: 25293953
[TBL] [Abstract][Full Text] [Related]
3. A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.
Shimada A; Takagi M; Nagashima Y; Miyai K; Hasegawa Y
Horm Res Paediatr; 2016; 86(1):62-9. PubMed ID: 27299576
[TBL] [Abstract][Full Text] [Related]
4. A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.
Nasca A; Di Meo I; Fellig Y; Saada A; Elpeleg O; Ghezzi D; Edvardson S
J Hum Genet; 2021 Aug; 66(8):835-840. PubMed ID: 33612823
[TBL] [Abstract][Full Text] [Related]
5. Heterozygous mutation in
Abdalla-Elsayed ME; Schatz P; Neuhaus C; Khan AO
Mol Vis; 2017; 23():778-784. PubMed ID: 29204067
[TBL] [Abstract][Full Text] [Related]
6.
Wangding S; Colaiacovo S; Makar I; Saleh M
Ophthalmic Genet; 2022 Jun; 43(3):389-391. PubMed ID: 34957897
[TBL] [Abstract][Full Text] [Related]
7. Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.
Griffero M; Benedetti AFF; Pérez M; Carvalho L; Jorge A; Latronico AC; Mendonca B; Arnhold I; Mericq V
J Pediatr Endocrinol Metab; 2022 Jun; 35(6):831-835. PubMed ID: 35320640
[TBL] [Abstract][Full Text] [Related]
8. The phenotypic spectrum associated with OTX2 mutations in humans.
Gregory LC; Gergics P; Nakaguma M; Bando H; Patti G; McCabe MJ; Fang Q; Ma Q; Ozel AB; Li JZ; Poina MM; Jorge AAL; Benedetti AFF; Lerario AM; Arnhold IJP; Mendonca BB; Maghnie M; Camper SA; Carvalho LRS; Dattani MT
Eur J Endocrinol; 2021 May; 185(1):121-135. PubMed ID: 33950863
[TBL] [Abstract][Full Text] [Related]
9. Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
Somashekar PH; Shukla A; Girisha KM
Ophthalmic Genet; 2017 Dec; 38(6):533-536. PubMed ID: 28388256
[TBL] [Abstract][Full Text] [Related]
10. A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
Gorbenko Del Blanco D; Romero CJ; Diaczok D; de Graaff LC; Radovick S; Hokken-Koelega AC
Eur J Endocrinol; 2012 Sep; 167(3):441-52. PubMed ID: 22715480
[TBL] [Abstract][Full Text] [Related]
11. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
Henderson RH; Williamson KA; Kennedy JS; Webster AR; Holder GE; Robson AG; FitzPatrick DR; van Heyningen V; Moore AT
Mol Vis; 2009 Nov; 15():2442-7. PubMed ID: 19956411
[TBL] [Abstract][Full Text] [Related]
12. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
Luoma PT; Luo N; Löscher WN; Farr CL; Horvath R; Wanschitz J; Kiechl S; Kaguni LS; Suomalainen A
Hum Mol Genet; 2005 Jul; 14(14):1907-20. PubMed ID: 15917273
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P
Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771
[TBL] [Abstract][Full Text] [Related]
14. Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
Liu X; Xiao J; Huang H; Guan L; Zhao K; Xu Q; Zhang X; Pan X; Gu S; Chen Y; Zhang J; Shen Y; Jiang H; Gao X; Kang X; Sheng X; Chen X; Zhao C
JAMA Ophthalmol; 2015 Apr; 133(4):427-36. PubMed ID: 25611614
[TBL] [Abstract][Full Text] [Related]
15. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Khan AO; Budde BS; Nürnberg P; Kawalia A; Lenzner S; Bolz HJ
Clin Genet; 2018 Jan; 93(1):149-154. PubMed ID: 28369829
[TBL] [Abstract][Full Text] [Related]
16. Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
Sergouniotis PI; Urquhart JE; Williams SG; Bhaskar SS; Black GC; Lovell SC; Whitby DJ; Newman WG; Clayton-Smith J
J Hum Genet; 2015 Apr; 60(4):199-202. PubMed ID: 25589041
[TBL] [Abstract][Full Text] [Related]
17. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.
Dateki S; Kosaka K; Hasegawa K; Tanaka H; Azuma N; Yokoya S; Muroya K; Adachi M; Tajima T; Motomura K; Kinoshita E; Moriuchi H; Sato N; Fukami M; Ogata T
J Clin Endocrinol Metab; 2010 Feb; 95(2):756-64. PubMed ID: 19965921
[TBL] [Abstract][Full Text] [Related]
18. Homozygous and heterozygous retinal phenotypes in families harbouring
Khan AO; Al Teneiji AM
Ophthalmic Genet; 2019 Jun; 40(3):247-251. PubMed ID: 31264916
[No Abstract] [Full Text] [Related]
19. Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.
Zabalza R; Nurminen A; Kaguni LS; Garesse R; Gallardo ME; Bornstein B
BMC Res Notes; 2014 Dec; 7():883. PubMed ID: 25488682
[TBL] [Abstract][Full Text] [Related]
20. Novel biallelic variants in
Schultz-Rogers L; Ferrer A; Dsouza NR; Zimmermann MT; Smith BE; Klee EW; Dhamija R
Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31604776
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]