115 related articles for article (PubMed ID: 27442045)
1. A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester.
Jones M; Chung J; Kimonis V; Gold JA
Clin Dysmorphol; 2017 Apr; 26(2):98-100. PubMed ID: 27442045
[No Abstract] [Full Text] [Related]
2. 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]
3. Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly.
Donnelly M; Todd E; Wheeler M; Winn VD; Kamnasaran D
Prenat Diagn; 2012 Sep; 32(9):903-5. PubMed ID: 22674740
[No Abstract] [Full Text] [Related]
4. First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature.
Rodriguez N; Casasbuenas A; Andreeva E; Odegova N; Wong AE; Sepulveda W
J Ultrasound Med; 2019 Mar; 38(3):805-809. PubMed ID: 30171631
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report.
Hisaba WJ; Milani HJ; Araujo Júnior E; Passos JP; Barreto EQ; Carvalho NS; Helfer TM; Pares DB; Nardozza LM; Moron AF
Med Ultrason; 2014 Dec; 16(4):377-9. PubMed ID: 25463893
[TBL] [Abstract][Full Text] [Related]
7. Early second-trimester diagnosis of fetal otocephaly.
Chen CP; Chang TY; Huang JK; Wang W
Ultrasound Obstet Gynecol; 2007 Apr; 29(4):470-1. PubMed ID: 17330829
[No Abstract] [Full Text] [Related]
8. Expanding the mutation and clinical spectrum of Roberts syndrome.
Afifi HH; Abdel-Salam GM; Eid MM; Tosson AM; Shousha WG; Abdel Azeem AA; Farag MK; Mehrez MI; Gaber KR
Congenit Anom (Kyoto); 2016 Jul; 56(4):154-62. PubMed ID: 26710928
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester.
Menezes GA; Araujo Júnior E; Lopes J; Belmonte S; Tonni G; Werner H
J Obstet Gynaecol Res; 2016 Aug; 42(8):1016-20. PubMed ID: 27087030
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Aprosencephaly with otocephaly in a lamb (Ovis aries).
Brachthäuser L; Klumpp S; Hecht W; Kuchelmeister K; Reinacher M; Ebbert W; Herden C
Vet Pathol; 2012 Nov; 49(6):1043-8. PubMed ID: 22431914
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
Kuniba H; Pooh RK; Sasaki K; Shimokawa O; Harada N; Kondoh T; Egashira M; Moriuchi H; Yoshiura K; Niikawa N
Am J Med Genet A; 2009 Feb; 149A(4):785-7. PubMed ID: 18642361
[No Abstract] [Full Text] [Related]
13. Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging.
Chen CP; Wang KG; Huang JK; Chang TY; Lin YH; Chin DT; Tzen CY; Wang W
Ultrasound Obstet Gynecol; 2003 Aug; 22(2):214-5. PubMed ID: 12905522
[No Abstract] [Full Text] [Related]
14. 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]
15. Prenatal diagnosis of agnathia-otocephaly using sonography and magnetic resonance imaging.
Akiyama M; Okubo T; Yasuo T; Iwasaku K; Kitawaki J
J Ultrasound Med; 2013 Aug; 32(8):1522-4. PubMed ID: 23887968
[No Abstract] [Full Text] [Related]
16. First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature.
Dolan SM; Shanske AL; Marion RW; Gross SJ
Prenat Diagn; 2003 Feb; 23(2):138-42. PubMed ID: 12575021
[TBL] [Abstract][Full Text] [Related]
17. Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations.
Diep J; Kam D; Munir F; Shulman SM; Atlas G
A A Case Rep; 2016 Jul; 7(2):44-8. PubMed ID: 27258179
[TBL] [Abstract][Full Text] [Related]
18. Advances in prenatal diagnosis of fetal otocephaly by 3D imaging.
Kinkel J; Rduch T; Abgottspon D; Fischer T
BMJ Case Rep; 2022 Apr; 15(4):. PubMed ID: 35459654
[TBL] [Abstract][Full Text] [Related]
19. [Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound].
Escribano Abad D; Arbués Gabarre J; Gómez Montes E; Puente Agueda JM; Herraiz García I; Galindo Izquierdo A
Ginecol Obstet Mex; 2011 Aug; 79(8):493-6. PubMed ID: 21966847
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
Jamsheer A; Olech EM; Kozłowski K; Niedziela M; Sowińska-Seidler A; Obara-Moszyńska M; Latos-Bieleńska A; Karczewski M; Zemojtel T
J Hum Genet; 2016 Jul; 61(7):577-83. PubMed ID: 27030147
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
