145 related articles for article (PubMed ID: 22577225)
1. OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Chassaing N; Sorrentino S; Davis EE; Martin-Coignard D; Iacovelli A; Paznekas W; Webb BD; Faye-Petersen O; Encha-Razavi F; Lequeux L; Vigouroux A; Yesilyurt A; Boyadjiev SA; Kayserili H; Loget P; Carles D; Sergi C; Puvabanditsin S; Chen CP; Etchevers HC; Katsanis N; Mercer CL; Calvas P; Jabs EW
J Med Genet; 2012 Jun; 49(6):373-9. PubMed ID: 22577225
[TBL] [Abstract][Full Text] [Related]
2. Re-focusing on Agnathia-Otocephaly complex.
Dubucs C; Chassaing N; Sergi C; Aubert-Mucca M; Attié-Bitach T; Lacombe D; Thauvin-Robinet C; Arpin S; Perez MJ; Cabrol C; Chen CP; Aziza J; Colin E; Martinovic J; Calvas P; Plaisancié J
Clin Oral Investig; 2021 Mar; 25(3):1353-1362. PubMed ID: 32643087
[TBL] [Abstract][Full Text] [Related]
3. Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.
Herman S; Delio M; Morrow B; Samanich J
Gene; 2012 Feb; 494(1):124-9. PubMed ID: 22198066
[TBL] [Abstract][Full Text] [Related]
4. Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.
Patat O; van Ravenswaaij-Arts CM; Tantau J; Corsten-Janssen N; van Tintelen JP; Dijkhuizen T; Kaplan J; Chassaing N
Mol Syndromol; 2013 Sep; 4(6):302-5. PubMed ID: 24167467
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Agnathia-Otocephaly Complex Due to a De Novo Deletion in the
Fabiani M; Libotte F; Margiotti K; Tannous DKI; Sparacino D; D'Aleo MP; Monaco F; Dello Russo C; Mesoraca A; Giorlandino C
Genes (Basel); 2022 Dec; 13(12):. PubMed ID: 36553536
[TBL] [Abstract][Full Text] [Related]
7. A de novo variant in OTX2 in a lamb with otocephaly.
Paris JM; Letko A; Häfliger IM; Švara T; Gombač M; Klinc P; Škibin A; Pogorevc E; Drögemüller C
Acta Vet Scand; 2020 Jan; 62(1):5. PubMed ID: 31969185
[TBL] [Abstract][Full Text] [Related]
8. Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice.
Hide T; Hatakeyama J; Kimura-Yoshida C; Tian E; Takeda N; Ushio Y; Shiroishi T; Aizawa S; Matsuo I
Development; 2002 Sep; 129(18):4347-57. PubMed ID: 12183386
[TBL] [Abstract][Full Text] [Related]
9. Cyclopia: isolated and with agnathia-otocephaly complex.
Wai LT; Chandran S
BMJ Case Rep; 2017 Aug; 2017():. PubMed ID: 28855214
[TBL] [Abstract][Full Text] [Related]
10. Mandibular dysostosis without microphthalmia caused by OTX2 deletion.
Latypova X; Bordereau S; Bleriot A; Pichon O; Poulain D; Briand A; Le Caignec C; Isidor B
Am J Med Genet A; 2016 Sep; 170(9):2466-70. PubMed ID: 27378064
[TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly.
Kamnasaran D; Morin F; Gekas J
Fetal Pediatr Pathol; 2010; 29(4):207-11. PubMed ID: 20594144
[TBL] [Abstract][Full Text] [Related]
12. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
Schilter KF; Schneider A; Bardakjian T; Soucy JF; Tyler RC; Reis LM; Semina EV
Clin Genet; 2011 Feb; 79(2):158-68. PubMed ID: 20486942
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.
Meier N; Bruder E; Miny P; Tercanli S; Filges I
Mol Genet Genomic Med; 2020 Apr; 8(4):e1178. PubMed ID: 32100971
[TBL] [Abstract][Full Text] [Related]
16. Mouse Otx2 functions in the formation and patterning of rostral head.
Matsuo I; Kuratani S; Kimura C; Takeda N; Aizawa S
Genes Dev; 1995 Nov; 9(21):2646-58. PubMed ID: 7590242
[TBL] [Abstract][Full Text] [Related]
17. Agnathia otocephaly: A case from the Katanga Copperbelt.
Kayembe-Kitenge T; Manyong'a Kadiamba V; de Luca C; Musa Obadia P; Kasamba Ilunga E; Mbuyi-Musanzayi S; Nawrot T; Lubaba Nkulu CB; Nemery B; Devriendt K
Birth Defects Res; 2020 Oct; 112(16):1287-1291. PubMed ID: 32639113
[TBL] [Abstract][Full Text] [Related]
18. Transmission of the dysgnathia complex from mother to daughter.
Erlich MS; Cunningham ML; Hudgins L
Am J Med Genet; 2000 Nov; 95(3):269-74. PubMed ID: 11102934
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Heterozygous mutations of OTX2 cause severe ocular malformations.
Ragge NK; Brown AG; Poloschek CM; Lorenz B; Henderson RA; Clarke MP; Russell-Eggitt I; Fielder A; Gerrelli D; Martinez-Barbera JP; Ruddle P; Hurst J; Collin JR; Salt A; Cooper ST; Thompson PJ; Sisodiya SM; Williamson KA; Fitzpatrick DR; van Heyningen V; Hanson IM
Am J Hum Genet; 2005 Jun; 76(6):1008-22. PubMed ID: 15846561
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
