Results 101 to 110 of about 3,033,166 (245)
Parent's guide to genetics and hearing loss
About 1 in 500 infants is born with or develops hearing loss during early childhood. Hearing loss has many causes: some are genetic (that is, caused by a baby\u2019s genes) or non-genetic (such as certain infections the mother has during pregnancy, or ...
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Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Conductive Hearing Loss in Bighorn Sheep
, 1995 In January 1993 we simulated a conductive hearing loss in three Mexican bighorn sheep (Ovis canadensis mexicana) by placing bone wax or saline solution in their ear canals.
Krausman, P. R. +4 more
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Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
MEDICAL DAILY: Hearing Loss Diagnosis and Treatment May Prevent Depression, Isolation
, 2020 The sounds of silence can be relaxing and peaceful – if it’s silence you’re looking for. But if the silence is due to hearing loss, those sounds of silence can be painfully isolating.
Tsimpida, Dialechti
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Simulated Conductive Hearing Loss in Children
, 2004 Otitis media with effusion (OME) often results in hearing loss for children with the condition. In order to provide appropriate and effective audiologic management, it is important to understand the impact of OME on speech recognition ability when ...
Judith S. Gravel +2 more
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Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Development of a low cost screen to identify hearing loss in young children and appropriate services for deaf children in Binga, Zimbabwe [PDF]
, 2003 There is a high prevalence of hearing loss estimated between 8 and 16% in young children in rural areas in Zimbabwe. Deaf children are usually identified late and do not benefit from early interventions.
Dube, Servious, Dube, S
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source