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Page 1
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K. Nozu K, et al. Clin Exp Nephrol. 2019 Feb;23(2):158-168. doi: 10.1007/s10157-018-1629-4. Epub 2018 Aug 20. Clin Exp Nephrol. 2019. PMID: 30128941 Free PMC article. Review.
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), …
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular …
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Lenaers G, et al. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Orphanet J Rare Dis. 2012. PMID: 22776096 Free PMC article. Review.
DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. ...About 20% of DOA patients har …
DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of …
Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss.
Jimenez JE, Nourbakhsh A, Colbert B, Mittal R, Yan D, Green CL, Nisenbaum E, Liu G, Bencie N, Rudman J, Blanton SH, Zhong Liu X. Jimenez JE, et al. Gene. 2020 Jul 15;747:144677. doi: 10.1016/j.gene.2020.144677. Epub 2020 Apr 15. Gene. 2020. PMID: 32304785 Free PMC article. Review.
The progressive, late-onset, nonsyndromic, sensorineural hearing loss (PNSHL) is the most common cause of sensory impairment globally, with presbycusis affecting greater than a third of individuals over the age of 65. The etiology underlying PNSHL include presbycusi …
The progressive, late-onset, nonsyndromic, sensorineural hearing loss (PNSHL) is the most common cause of sensory impairment g …
A Systematic Review of Radiosurgery Versus Surgery for Neurofibromatosis Type 2 Vestibular Schwannomas.
Chung LK, Nguyen TP, Sheppard JP, Lagman C, Tenn S, Lee P, Kaprealian T, Chin R, Gopen Q, Yang I. Chung LK, et al. World Neurosurg. 2018 Jan;109:47-58. doi: 10.1016/j.wneu.2017.08.159. Epub 2017 Sep 4. World Neurosurg. 2018. PMID: 28882713 Review.
OBJECTIVE: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas (VSs). ...RESULTS: A total of 974 patients (485 SRS, 489 surgery) were identified. The mean 5-year local control rate for SRS was 75.1 …
OBJECTIVE: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas ( …
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA. Hussein BA, et al. Blood Coagul Fibrinolysis. 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. Blood Coagul Fibrinolysis. 2013. PMID: 23811802 Review.
May-Hegglin anomaly (MHA) is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large platelets and inclusion bodies in white blood cells. ...The review revealed 26 articles (25 case reports and one case series) including 75
May-Hegglin anomaly (MHA) is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large pl …
Hereditary hearing loss and deafness genes in Japan.
Ito T, Noguchi Y, Yashima T, Ohno K, Kitamura K. Ito T, et al. J Med Dent Sci. 2010 Mar;57(1):1-10. J Med Dent Sci. 2010. PMID: 20437760 Review.
Hearing loss (HL) is the most common sensory impairment occurring at birth in developed countries. ...Approximately 70% of hereditary HL is nonsyndromic and subdivided to autosomal dominant (20%), autosomal recessive (75%), X-linked HL (1
Hearing loss (HL) is the most common sensory impairment occurring at birth in developed countries. ...Approximately 70% of her
Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.
Finsterer J, Fellinger J. Finsterer J, et al. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. doi: 10.1016/j.ijporl.2004.12.002. Int J Pediatr Otorhinolaryngol. 2005. PMID: 15850684 Review.
Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from sensorineural hearing loss. One percent of the total human genes, i.e. 300-500, are estimated to cause syndromic and nonsyndromic HIH. ...Postlingual nonsyndromic …
Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from sensorineural hearing loss
[Genetics of congenital deafness].
Faundes V, Pardo RA, Castillo Taucher S. Faundes V, et al. Med Clin (Barc). 2012 Oct 20;139(10):446-51. doi: 10.1016/j.medcli.2012.02.014. Epub 2012 Apr 24. Med Clin (Barc). 2012. PMID: 22538062 Review. Spanish.
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. ...More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. ... …
The genetic basis of auditory neuropathy spectrum disorder (ANSD).
Manchaiah VK, Zhao F, Danesh AA, Duprey R. Manchaiah VK, et al. Int J Pediatr Otorhinolaryngol. 2011 Feb;75(2):151-8. doi: 10.1016/j.ijporl.2010.11.023. Epub 2010 Dec 21. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21176974 Review.
OBJECTIVE: Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. ...The inheritance pattern can include all the four main types of inheritances such as …
OBJECTIVE: Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell …
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R, Gasparini P, Estivill X. Rabionet R, et al. Hum Mutat. 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I. Hum Mutat. 2000. PMID: 10980526 Review.
Another connexin (Connexin32, encoded by GJB1) is involved in X-linked peripheral neuropathy and hearing impairment. Mutations in these genes cause autosomal recessive (GJB2 and GJB3), autosomal dominant (GJB2, GJB3, and GJB6) or X-linked (GJB1) hea
Another connexin (Connexin32, encoded by GJB1) is involved in X-linked peripheral neuropathy and hearing impairment. Mutations in the …
14 results