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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 1
1999 1
2000 1
2001 1
2005 2
2009 1
2011 1
2012 1
2017 1
2018 1
2020 1
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2022 2
2024 0

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Page 1
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be involved. ...X-linked hearing loss and maternally-inherited
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so
[Ciliopathies].
Gerth-Kahlert C, Koller S. Gerth-Kahlert C, et al. Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13. Klin Monbl Augenheilkd. 2018. PMID: 29534263 Review. German.
The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome. Molecular-genetic analysis revealed a large number of cilia genes with a high phenotype heterogeneity. Diagnosis of ciliopathies require a multi-discipli …
The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome. Molecular-genetic an …
Impact of X-Linked Hypophosphatemia on Muscle Symptoms.
Romagnoli C, Iantomasi T, Brandi ML. Romagnoli C, et al. Genes (Basel). 2022 Dec 19;13(12):2415. doi: 10.3390/genes13122415. Genes (Basel). 2022. PMID: 36553684 Free PMC article. Review.
X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and deficiency of renal tubular phosphate transport in humans. ...Major clinical manifestations include rickets, bone deformities, and growth retardation that develop during childhood, and
X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and deficiency of renal tubular phosphate transp
[Genetics of complex and syndromic palmoplantar keratoderma].
Sperelakis-Beedham B, Lopez M, Girodon E, Hickman G, Bourrat E, Bienvenu T. Sperelakis-Beedham B, et al. Ann Biol Clin (Paris). 2021 Dec 1;79(6):551-565. doi: 10.1684/abc.2021.1688. Ann Biol Clin (Paris). 2021. PMID: 34961738 Review. French.
All types of inheritance have been observed: autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial. Some of these disorders are restricted to geographic isolates. This review describes the different genetic causes of hereditary syndromic and …
All types of inheritance have been observed: autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial. S …
Deafness genes.
Kitamura K, Takahashi K, Tamagawa Y, Noguchi Y, Kuroishikawa Y, Ishikawa K, Hagiwara H. Kitamura K, et al. J Med Dent Sci. 2000 Mar;47(1):1-11. J Med Dent Sci. 2000. PMID: 12162522 Review.
For prelingual hearing loss, epidemiological data show that 1 neonate in 1,000 is born with severe to profound hearing loss, and in half of that number the loss is inherited. ...To date, 31 autosomal dominant, 28 autosomal recessive, and 6
For prelingual hearing loss, epidemiological data show that 1 neonate in 1,000 is born with severe to profound hearing
Genetic causes of nonsyndromic hearing loss.
Skvorak Giersch AB, Morton CC. Skvorak Giersch AB, et al. Curr Opin Pediatr. 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. Curr Opin Pediatr. 1999. PMID: 10590915 Review.
Greater than half of hearing loss is estimated to have a genetic basis. Recent studies of hearing and deafness have identified a dozen genes that cause nonsyndromic hearing disorders. ...With new mandates for hearing screening programs fo …
Greater than half of hearing loss is estimated to have a genetic basis. Recent studies of hearing and deafness have ide …
New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review.
Hong R, Du Q, Pan Y. Hong R, et al. AJNR Am J Neuroradiol. 2020 Jun;41(6):1076-1080. doi: 10.3174/ajnr.A6576. Epub 2020 May 28. AJNR Am J Neuroradiol. 2020. PMID: 32467182 Free PMC article. Review.
Incomplete partition type III, also referred to as X-linked deafness, is a rare genetic inner ear malformation. Its characteristic CT findings, including bulbous dilation of the internal auditory canal and absence of the modiolus with the interscalar septa present, …
Incomplete partition type III, also referred to as X-linked deafness, is a rare genetic inner ear malformation. Its characteri …
The clinical spectrum of type IV collagen mutations.
Lemmink HH, Schröder CH, Monnens LA, Smeets HJ. Lemmink HH, et al. Hum Mutat. 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9195222 Review.
Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and genetically heterogeneous renal disorder, Alport syndrome, to autosomal dominant familial benign hematuria. The predominant form of Alport syndrome is X-linked; more than …
Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and genetically heterogeneous renal disorder, Alp …
Alport syndrome: clinical update.
Wester DC, Atkin CL, Gregory MC. Wester DC, et al. J Am Acad Audiol. 1995 Jan;6(1):73-9. J Am Acad Audiol. 1995. PMID: 7696680 Review.
This review of the literature on Alport syndrome (AS) places emphasis on genetic and clinical issues related to the sensorineural hearing loss in type III and type IV X-linked AS. The review covers prevalence, medical issues, genetic issues, audiologic …
This review of the literature on Alport syndrome (AS) places emphasis on genetic and clinical issues related to the sensorineural hearing
[Advance in molecular genetic research on X-linked syndromic hearing impairment].
Huang M, Zhang D. Huang M, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):928-933. doi: 10.3760/cma.j.issn.1003-9406.2017.06.033. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 29188633 Review. Chinese.
Genetic factors have shown to play an important role in the pathogenesis of deafness. Mutations of X-linked genes may cause syndromic hearing impairment. Gene mapping, linkage analysis and next-generation sequencing may facilitate delineation of the pa …
Genetic factors have shown to play an important role in the pathogenesis of deafness. Mutations of X-linked genes may c …
16 results