Results 51 to 60 of about 12,592,373 (135)

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

BMC Medical Genetics, 2020
Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all
Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim   +7 more
doaj   +1 more source

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB‐Related Genes: An Impossible Challenge?

Clinical Genetics, EarlyView.
As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.
Ralyath Balogoun, Margaux Serey‐Gaut, Laurence Jonard, Sandrine Marlin   +3 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. [PDF]

PLoS ONE, 2014
Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL) in India, we examined 374 families with
Aparna Ganapathy, Nishtha Pandey, C R Srikumari Srisailapathy, Rajeev Jalvi, Vikas Malhotra, Mohan Venkatappa, Arunima Chatterjee, Meenakshi Sharma, Rekha Santhanam, Shelly Chadha, Arabandi Ramesh, Arun K Agarwal, Raghunath R Rangasayee, Anuranjan Anand   +13 more
doaj   +1 more source

The utility of the term ‘Rett‐like’ in relation to Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Our findings show that ‘Rett‐like’ generally describes females with developmental disability, typically with no period of regression. We establish that there is a broad genetic landscape encompassing this disorder. Clinical utility of ‘Rett‐like’ is limited, with inadequate evidence of validity and diagnostic use of ‘Rett‐like’.
Anahita Khot, Daniel E Lumsden
wiley   +1 more source

Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family

Frontiers in Genetics
Background: Mutations in the MYO6 gene have been associated with both autosomal dominant non-syndromic hearing loss (ADNSHL) and autosomal recessive non-syndromic hearing loss (ARNSHL), with a cumulative identification of 125 pathogenic variants.
Haiting Ji, Haiting Ji, Haiting Ji, Lichun Zhang, Hafiz Muhammad Jafar Hussain, Ayesha Aftab, Huiqian Yu, Huiqian Yu, Huiqian Yu, Min Xiao   +9 more
doaj   +1 more source

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. [PDF]

, 2008
Contains fulltext : 69177.pdf (Publisher’s version ) (Open Access)Mutations in the TECTA gene result in sensorineural non-syndromic hearing impairment. TECTA-related deafness can be inherited autosomal dominantly (designated as DFNA8/12)
Behrouzifard, A.H., Sadeghi, Abdorrahim, Smith, Richard J.H., Sanati, Mohammad Hossein, Camp, G. van, de Brouwer, Arjan P.M., Alasti, Fatemeh, Behrouzifard, Amir Hossein, Brouwer, A.P.M. de, Kremer, H., Van Camp, Guy, Sadeghi, A., Kremer, Hannie, Smith, R.J., Sanati, M.H., Alasti, F.   +15 more
core   +1 more source

Hypophosphataemia in adults: approach to diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran, Mawson Wang, Kirtan Ganda   +2 more
wiley   +1 more source

Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics

Journal of Rehabilitation, 2007
Objective: Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding.
Kimia Kahrizi, Niloufar Bazzaz-Zadegan, Marzieh Mohseni, Noushin Nik-Zaat, Khadijeh Jalalvand, Yaser Riaz-el Hosseini, Yousef Shafeghati, Sanaz Arzhangi, Khalil Javan, Hosein Najmabadi   +9 more
doaj  

Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2017
Background: Hearing loss (HL) is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common form of hereditary deafness ...
Mahtab Khosrofar, Mohammad Reza Pourreza, Samira Asgharzadeh, Parisa Tahmasebi, Elahe Ali Asgari, Reza Ghasemikhah, Nader Saki, Javad Mohammadi-asl, Morteza Hashemzadeh Chaleshtori, Mohammad Amin Tabatabaiefar   +9 more
doaj