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Analysis between phenotypes and genotypes of inner ear malformation.
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y. Wang S, et al. Acta Otolaryngol. 2019 Mar;139(3):223-232. doi: 10.1080/00016489.2018.1554262. Epub 2019 Feb 14. Acta Otolaryngol. 2019. PMID: 30762457 Review.
METHODS: Sixty EVA patients were tested by audiometry, temporal bone high-resolution CT and inner ear MRI. SNPscan technology were carried out after the patients signed informed consent. ...
METHODS: Sixty EVA patients were tested by audiometry, temporal bone high-resolution CT and inner ear MRI. SNPscan technology …
Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.
Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C. Chanclud J, et al. Pediatr Radiol. 2023 Mar;53(3):461-469. doi: 10.1007/s00247-022-05531-3. Epub 2022 Oct 24. Pediatr Radiol. 2023. PMID: 36274068
Psychomotor development was normal in 14 children. One child (with an inner ear malformation) showed a slight delay in walking and language acquisition. ...
Psychomotor development was normal in 14 children. One child (with an inner ear malformation) showed a slight delay in …
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S, Qin M, Mao S, Mei L, Cai X, Feng Y, He C, Song J. Li S, et al. BMC Med Genomics. 2022 Nov 3;15(1):230. doi: 10.1186/s12920-022-01379-6. BMC Med Genomics. 2022. PMID: 36329483 Free PMC article.
Two probands with SOX10 mutations developed progressive changes in iris color with age, returning from pale blue at birth to normal tan. Additionally, one proband had a renal malformation (horseshoe kidneys).All cases were first described as WS cases. Congenital inner …
Two probands with SOX10 mutations developed progressive changes in iris color with age, returning from pale blue at birth to normal tan. Add …
Transcanal Endoscopic Management of Cerebrospinal Fluid Otorrhea Secondary to Congenital Inner Ear Malformations.
Kou YF, Zhu VF, Kutz JW Jr, Mitchell RB, Isaacson B. Kou YF, et al. Otol Neurotol. 2016 Jan;37(1):62-5. doi: 10.1097/MAO.0000000000000898. Otol Neurotol. 2016. PMID: 26571412
OBJECTIVE: To describe the feasibility of using a transcanal endoscopic approach for management of cerebrospinal leaks secondary to congenital inner ear malformations. PATIENTS: Two pediatric patients with congenital inner ear malformations and concurr …
OBJECTIVE: To describe the feasibility of using a transcanal endoscopic approach for management of cerebrospinal leaks secondary to congenit …
Cochlear implants: selection criteria and shifting borders.
Lenarz T. Lenarz T. Acta Otorhinolaryngol Belg. 1998;52(3):183-99. Acta Otorhinolaryngol Belg. 1998. PMID: 9810453 Review.
The same holds true for children. Cochlear implantation in obliterated cochleae and inner ear malformation requires a special surgical technique and special electrode arrays. ...
The same holds true for children. Cochlear implantation in obliterated cochleae and inner ear malformation requires a s …
Phenotype and genotype in females with POU3F4 mutations.
Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A. Marlin S, et al. Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x. Clin Genet. 2009. PMID: 19930154
In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onse …
In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic …
Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China.
Dai ZY, Sun BC, Huang SS, Yuan YY, Zhu YH, Su Y, Dai P. Dai ZY, et al. Gene. 2015 Oct 10;570(2):272-6. doi: 10.1016/j.gene.2015.06.038. Epub 2015 Jun 18. Gene. 2015. PMID: 26095810
Moreover, auditory threshold of GJB2 biallelic marker was associated with ages of onset, while no significant correlation was detected with disease time and whether the inner ear malformation. Similar clinical phenotype could be detected between patients with …
Moreover, auditory threshold of GJB2 biallelic marker was associated with ages of onset, while no significant correlation was detected with …