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Page 1
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
Gao FJ, Wang DD, Chen F, Sun HX, Hu FY, Xu P, Li J, Liu W, Qi YH, Li W, Wang M, Zhang S, Xu GZ, Chang Q, Wu JH. Gao FJ, et al. Br J Ophthalmol. 2021 Jan;105(1):87-92. doi: 10.1136/bjophthalmol-2020-315878. Epub 2020 Mar 18. Br J Ophthalmol. 2021. PMID: 32188678 Free PMC article.
AIMS: To investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) and retinitis pigmentosa (RP) in a large cohort of Chinese patients. ...
AIMS: To investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) a …
Hearing Loss in Stickler Syndrome: An Update.
Acke FRE, De Leenheer EMR. Acke FRE, et al. Genes (Basel). 2022 Sep 1;13(9):1571. doi: 10.3390/genes13091571. Genes (Basel). 2022. PMID: 36140739 Free PMC article. Review.
Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. ...Hearing loss in the rarer types of Stickler syndrome depends on the gene expression in the cochlea, with moderate to severe downsloping hea …
Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. ...Hearin …
Insight into the Association between Slitrk Protein and Neurodevelopmental and Neuropsychiatric Conditions.
Puranik N, Song M. Puranik N, et al. Biomolecules. 2024 Aug 26;14(9):1060. doi: 10.3390/biom14091060. Biomolecules. 2024. PMID: 39334827 Free PMC article. Review.
Slitrk protein variations have been associated with various sensory and neuropsychiatric conditions, including myopia, deafness, obsessive-compulsive disorder, autism spectrum disorders, schizophrenia, attention-deficit/hyperactivity disorder, glioma, and Tourette …
Slitrk protein variations have been associated with various sensory and neuropsychiatric conditions, including myopia, deafness …
Acute myeloid leukemia associated with CHARGE syndrome.
Shuto M, Hirano N, Oguri S, Itonaga T, Inoue M, Suenobu S, Ihara K. Shuto M, et al. Am J Med Genet A. 2023 Mar;191(3):878-881. doi: 10.1002/ajmg.a.63087. Epub 2022 Dec 21. Am J Med Genet A. 2023. PMID: 36543163 Review.
Only a few cases of CHARGE syndrome accompanied by neoplasm during childhood have been reported. We report the case of a girl with CHARGE syndrome who developed acute myelogenous leukemia at 12 years old. ...The patient was genetically diagnosed with CHARGE syndr …
Only a few cases of CHARGE syndrome accompanied by neoplasm during childhood have been reported. We report the case of a girl with CH …
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241 Free PMC article.
Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. ...LRP2 variants have been associated with Donnai-Barrow syndrome and other multisystem pleiotropic phenotypes different from the phenotypes of the four cases report …
Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. ...LRP2 variants have been assoc …
A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.
Salime S, Riahi Z, Elrharchi S, Elkhattabi L, Charoute H, Nahili H, Rouba H, Kabine M, Bonnet C, Petit C, Barakat A. Salime S, et al. Gene. 2018 Jun 15;659:89-92. doi: 10.1016/j.gene.2018.03.042. Epub 2018 Mar 15. Gene. 2018. PMID: 29551497
Deafness and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness and high myopia. ...The analysis of the two exons of SLITRK6 gene in a Moroccan family allowed us to identify a novel single deleter …
Deafness and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness …
Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome.
Zhang Y, Feng L, Kong X, Wu J, Chen Y, Tian G. Zhang Y, et al. Orphanet J Rare Dis. 2019 Aug 7;14(1):190. doi: 10.1186/s13023-019-1161-y. Orphanet J Rare Dis. 2019. PMID: 31391115 Free PMC article.
BACKGROUND: Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. ...
BACKGROUND: Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestation …
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
Bizzari S, El-Bazzal L, Nair P, Younan A, Stora S, Mehawej C, El-Hayek S, Delague V, Mégarbané A. Bizzari S, et al. Eur J Med Genet. 2020 May;63(5):103869. doi: 10.1016/j.ejmg.2020.103869. Epub 2020 Jan 30. Eur J Med Genet. 2020. PMID: 32006683 Review.
We have previously reported on a consanguineous family where 2 siblings, a girl and a boy, presented with tall stature, long and triangular faces, prominent forehead, telecanthus, ptosis, everted lower eyelids, downslanting palpebral fissures, large ears, high arched palate, long …
We have previously reported on a consanguineous family where 2 siblings, a girl and a boy, presented with tall stature, long and triangular …
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ, Hu FY, Xu P, Qi YH, Li JK, Zhang YJ, Chen F, Chang Q, Song F, Shen SM, Xu GZ, Wu JH. Gao FJ, et al. Orphanet J Rare Dis. 2019 Dec 12;14(1):290. doi: 10.1186/s13023-019-1243-x. Orphanet J Rare Dis. 2019. PMID: 31831025 Free PMC article.
BACKGROUND: Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. ...
BACKGROUND: Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. …
Cochlear Implantation Outcomes in Children with Agenesis of the Corpus Callosum: A Retrospective Study and A Review of the Literature.
Özdemir S, Tuncer Ü, Sürmelioğlu Ö, Tarkan Ö, Çelik F, Kıroğlu M, Dağkıran M, Şahin P, Tezer N, Akar F. Özdemir S, et al. J Int Adv Otol. 2019 Dec;15(3):364-367. doi: 10.5152/iao.2019.6577. J Int Adv Otol. 2019. PMID: 31846912 Free PMC article. Review.
MATERIALS AND METHODS: To the best of our knowledge, in the English literature, there was only one case reported with CCA who had undergone CI surgery. This case had Donnai-Barrow syndrome. In the Cukurova University School of Medicine Department of Otorhinolaryngology dat …
MATERIALS AND METHODS: To the best of our knowledge, in the English literature, there was only one case reported with CCA who had undergone …
17 results