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Quoted phrase not found in phrase index: "Hearing loss, autosomal dominant 79"
Page 1
Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series.
Roelandt MA, Devriendt K, de Llano-Pérula MC, Raes M, Willems G, Verdonck A. Roelandt MA, et al. Cleft Palate Craniofac J. 2021 Apr;58(4):505-513. doi: 10.1177/1055665620954090. Epub 2020 Oct 16. Cleft Palate Craniofac J. 2021. PMID: 33063524
Four relatives spanning 3 generations were diagnosed with a familial autosomal dominant 2.79 Mb microdeletion in chromosome 14q22.1-q22.2. ...Developmental delay was noted together with limb defects such as poly- and syndactyly. Microphthalmia and hearing …
Four relatives spanning 3 generations were diagnosed with a familial autosomal dominant 2.79 Mb microdeletion in chromo …
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
Meshcheryakova TI, Zinchenko RA, Vasilyeva TA, Marakhonov AV, Zhylina SS, Petrova NV, Kozhanova TV, Belenikin MS, Petrin AN, Mutovin GR. Meshcheryakova TI, et al. Ann Hum Genet. 2015 Mar;79(2):148-52. doi: 10.1111/ahg.12098. Epub 2015 Jan 15. Ann Hum Genet. 2015. PMID: 25590586
Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associated with mutations in the …
Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sin …
Cochlear implantation outcomes in children with Waardenburg syndrome.
Amirsalari S, Ajallouyean M, Saburi A, Haddadi Fard A, Abed M, Ghazavi Y. Amirsalari S, et al. Eur Arch Otorhinolaryngol. 2012 Oct;269(10):2179-83. doi: 10.1007/s00405-011-1877-3. Epub 2011 Dec 11. Eur Arch Otorhinolaryngol. 2012. PMID: 22159916
Waardenburg syndrome (WS) is an autosomal dominant disease, characterized by dystopia canthorum, hyperplasia of the eyebrows, heterochromia iridis, white forelock, and congenital sensori-neural hearing loss (SNHL). ...There was a significant difference …
Waardenburg syndrome (WS) is an autosomal dominant disease, characterized by dystopia canthorum, hyperplasia of the eyebrows, …
Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
Chen DY, Chai YC, Yang T, Wu H. Chen DY, et al. Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1711-5. doi: 10.1016/j.ijporl.2013.07.031. Epub 2013 Aug 9. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23993205
OBJECTIVES: To characterize the clinical features of a Chinese DFNA9 family associated with a novel COCH mutation and to confirm the proposed genotype-phenotype correlation of COCH. METHODS: Mutation screening of 79 deafness genes was performed in the proband by targeted n …
OBJECTIVES: To characterize the clinical features of a Chinese DFNA9 family associated with a novel COCH mutation and to confirm the propose …
Proximal symphalangism and premature ovarian failure.
Kadi N, Tahiri L, Maziane M, Mernissi FZ, Harzy T. Kadi N, et al. Joint Bone Spine. 2012 Jan;79(1):83-4. doi: 10.1016/j.jbspin.2011.05.029. Epub 2011 Nov 15. Joint Bone Spine. 2012. PMID: 22088931
Proximal symphalangism is a rare autosomal dominant affection responsible for multiple joint ankylosis, it results from NOG gene mutation whose locus is on 17q21-22. ...
Proximal symphalangism is a rare autosomal dominant affection responsible for multiple joint ankylosis, it results from NOG ge …
On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome.
Lorencin M, Bulic K. Lorencin M, et al. Ann Plast Surg. 2017 Sep;79(3):e7-e10. doi: 10.1097/SAP.0000000000001080. Ann Plast Surg. 2017. PMID: 28509696
Townes-Brocks syndrome is a rare autosomal dominant syndrome characterized by multiple malformations, including thumb anomalies. ...
Townes-Brocks syndrome is a rare autosomal dominant syndrome characterized by multiple malformations, including thumb anomalie …
Leptomeningeal Angiomatosis in a Case of Neurofibromatosis Type 2: An Unusual Finding.
Naik S, Shetty GS, Kumar S, Phadke RV. Naik S, et al. Pediatr Neurosurg. 2016;51(2):79-82. doi: 10.1159/000439437. Epub 2015 Oct 29. Pediatr Neurosurg. 2016. PMID: 26510155
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. ...
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by multiple neoplasms of the central and periph …
Otosclerosis in a black child: diagnostic acoustic impedance studies.
Schweitzer VG, Lilly DJ. Schweitzer VG, et al. Int J Pediatr Otorhinolaryngol. 1984 Oct;8(1):79-90. doi: 10.1016/s0165-5876(84)80028-2. Int J Pediatr Otorhinolaryngol. 1984. PMID: 6500827
Otosclerosis classically describes an osteodystrophic change in the bony labyrinth and stapes footplate, of autosomal dominant inheritance, reported rare under the age of 5, extremely "rare" in the Oriental and Black race, "non-existent" in the American Indian, and …
Otosclerosis classically describes an osteodystrophic change in the bony labyrinth and stapes footplate, of autosomal dominant …
A father and son with a nonsevere form of Crouzon's syndrome.
Mamikoglu B, Mamikoglu A. Mamikoglu B, et al. Ear Nose Throat J. 2000 May;79(5):368, 371. Ear Nose Throat J. 2000. PMID: 10832202
Crouzon's syndrome is a hereditary autosomal-dominant disorder. In its classic form, patients experience a premature closure of the cranial sutures, which leads to brachycephaly, proptosis, a small maxilla, and anomalies of the external and middle ear. ...The two me …
Crouzon's syndrome is a hereditary autosomal-dominant disorder. In its classic form, patients experience a premature closure o …