Results 131 to 140 of about 1,786,209 (304)

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, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Commission on the Deaf and Hearing Impaired

, 2012
Updated irregularly; Began in 2002?; Title from home page (publisher's Web site, viewed Aug. 28, 2012).; At head of title: State of Connecticut.; Official website of the Connecticut Commission on the Deaf and Hearing Impaired.

core   +1 more source

Swallowing development in infants and toddlers with spinal muscular atrophy following therapy compared to healthy controls: the prospective controlled DySMA trial

Orphanet Journal of Rare Diseases
Background Swallowing development is a crucial outcome measure for evaluating the effectiveness of disease-modifying therapies (DMT) in children with spinal muscular atrophy (SMA).
Jana Zang, Charlotte Dumitrascu, Julia Glinzer, Deike Weiss, Jonas Denecke, Christina Pflug, Almut C. Niessen, Paula Steffens, Jessika Johannsen   +8 more
doaj   +1 more source

A mechanistically informed framework of hierarchical temporal speech organization for objective differential assessment of motor speech disorders in neurodegenerative diseases

Frontiers in Neuroscience
IntroductionSpeech is organized into discrete utterances and pauses in accordance with underlying linguistic structure, temporal coordination, prosodic organization, and respiratory demands. Temporal speech characteristics, including rhythmic and pausing
Kaley Bruning, Lindsey Heidrick, Panying Rong   +2 more
doaj   +1 more source

Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man. [PDF]

Hum Genet, 2022
Boussaty EC, Friedman RA, Million Veteran Program, Clifford RE.   +3 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

An Assessment of the Effects of Increased Regulatory Enforcement on Occupational Hearing Loss Workers' Compensation gon 1984-1998 [PDF]

Hearing loss from occupational exposures has been found to be a common and serious problem affecting workers. This paper examines the effect that increasing legislative enforcement of existing regulations has on improving worker safety.
Irwin B. Horwitz, Brian McCall
core  

Congenital hearing loss in Malta : a survey [PDF]

, 1990
The congenitally deaf infant who acquires deafness prior to development of language present special problems when compared to other hearing impaired individuals.
Pace Balzan, Jacqueline, Saliba, F., Degiorgio, Raymond, Fenech, Anthony G.   +3 more
core  

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

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, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Is Auditory Steady-State Response Testing the Key for Diagnosing Non-Organic Hearing Disorders? Implications for Current Audiological Practice. [PDF]

J Audiol Otol, 2022
Plioutas J, Vlastarakos PV, Delidis A, Vasileiou A, Nikolopoulos TP, Maragoudakis P.   +5 more
europepmc   +1 more source