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2. Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. Piceci F; Morlino S; Castori M; Buffone E; De Luca A; Grammatico P; Guida V Clin Genet; 2017 May; 91(5):774-779. PubMed ID: 27503514 [TBL] [Abstract][Full Text] [Related]
3. Identification of loss-of-function HOXA2 mutations in Chinese families with dominant bilateral microtia. Si N; Meng X; Lu X; Zhao X; Li C; Yang M; Zhang Y; Wang C; Guo P; Zhang X; Pan B; Jiang H Gene; 2020 Oct; 757():144945. PubMed ID: 32649979 [TBL] [Abstract][Full Text] [Related]
4. Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. Monks DC; Jahangir A; Shanske AL; Samanich J; Morrow BE; Babcock M Int J Pediatr Otorhinolaryngol; 2010 Aug; 74(8):878-82. PubMed ID: 20542577 [TBL] [Abstract][Full Text] [Related]
5. Mouse Hoxa2 mutations provide a model for microtia and auricle duplication. Minoux M; Kratochwil CF; Ducret S; Amin S; Kitazawa T; Kurihara H; Bobola N; Vilain N; Rijli FM Development; 2013 Nov; 140(21):4386-97. PubMed ID: 24067355 [TBL] [Abstract][Full Text] [Related]
6. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Alasti F; Sadeghi A; Sanati MH; Farhadi M; Stollar E; Somers T; Van Camp G Am J Hum Genet; 2008 Apr; 82(4):982-91. PubMed ID: 18394579 [TBL] [Abstract][Full Text] [Related]
8. Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. Riazuddin S; Ahmed ZM; Hegde RS; Khan SN; Nasir I; Shaukat U; Riazuddin S; Butman JA; Griffith AJ; Friedman TB; Choi BY BMC Med Genet; 2011 Feb; 12():21. PubMed ID: 21306635 [TBL] [Abstract][Full Text] [Related]
9. Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia. Hao S; Jin L; Li C; Wang H; Zheng F; Ma D; Zhang T Int J Pediatr Otorhinolaryngol; 2017 Feb; 93():78-82. PubMed ID: 28109504 [TBL] [Abstract][Full Text] [Related]
10. Whole-exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities. Yang M; Lu X; Zhang Y; Wang C; Cai Z; Li Z; Pan B; Jiang H Mol Genet Genomic Med; 2021 May; 9(5):e1657. PubMed ID: 33811463 [TBL] [Abstract][Full Text] [Related]
12. Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia. Mortier J; van den Ende J; Declau F; Vercruysse H; Wuyts W; Van Camp G; Vanderveken O; Boudewyns A Eur Arch Otorhinolaryngol; 2023 Feb; 280(2):623-631. PubMed ID: 35759046 [TBL] [Abstract][Full Text] [Related]
13. A distinct dominant form of microtia and conductive hearing loss. Sánchez-Corona J; García-Cruz D; Ruenes R; Cantú JM Birth Defects Orig Artic Ser; 1982; 18(3B):211-6. PubMed ID: 7139104 [No Abstract] [Full Text] [Related]
14. Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia. Si N; Meng X; Lu X; Liu Z; Qi Z; Wang L; Li C; Yang M; Zhang Y; Wang C; Guo P; Zhu L; Liu L; Li Z; Zhang Z; Cai Z; Pan B; Jiang H; Zhang X J Transl Med; 2020 Jun; 18(1):244. PubMed ID: 32552830 [TBL] [Abstract][Full Text] [Related]
15. SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans. Guan J; Wang D; Cao W; Zhao Y; Du R; Yuan H; Liu Q; Lan L; Zong L; Yang J; Yin Z; Han B; Zhang F; Wang Q J Hum Genet; 2016 Nov; 61(11):917-922. PubMed ID: 27383657 [TBL] [Abstract][Full Text] [Related]
16. Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia. A rare autosomal dominant congenital syndrome. Schweitzer VG; Kemink JL; Graham MD Am J Otol; 1984 Jul; 5(5):387-91. PubMed ID: 6476090 [TBL] [Abstract][Full Text] [Related]
17. Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship. Strisciuglio P; Ballabio A; Parenti G J Med Genet; 1986 Oct; 23(5):459-60. PubMed ID: 3783624 [TBL] [Abstract][Full Text] [Related]
18. Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. Zhao Y; Zhao F; Zong L; Zhang P; Guan L; Zhang J; Wang D; Wang J; Chai W; Lan L; Li Q; Han B; Yang L; Jin X; Yang W; Hu X; Wang X; Li N; Li Y; Petit C; Wang J; Wang HY; Wang Q PLoS One; 2013; 8(7):e69549. PubMed ID: 23936043 [TBL] [Abstract][Full Text] [Related]
19. Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City. Llano-Rivas I; González-del Angel A; del Castillo V; Reyes R; Carnevale A Arch Med Res; 1999; 30(2):120-4. PubMed ID: 10372445 [TBL] [Abstract][Full Text] [Related]
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