Results 171 to 180 of about 3,577,658 (389)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Comparison between intratympanic injection of dexamethasone and methylprednisolone in idiopathic sudden sensorineural hearing loss: A randomized clinical trial

Laryngoscope Investigative Otolaryngology
Objective To compare the hearing outcomes of patients with idiopathic sudden sensorineural hearing loss after intratympanic (IT) injection of methylprednisolone and dexamethasone. Study design Randomized case‐controlled clinical trial.
Kourosh Eftekharian, Elnaz Najafi, Maryam Amizadeh, Noosheen Mokari, Mohammad Faramarzi, Yalda Izadparast, Yalda Jabbari Moghadam, Ali Eftekharian   +7 more
doaj   +1 more source

Musical Ear Syndrome: What Do We Know? [PDF]

, 2017
The purpose of this study was to review the existing literature regarding Musical Ear Syndrome and other related auditory hallucinations. While the existence of auditory hallucinations is evident, their cause is unclear and widely understudied. There was
Pestel, Cara D.
core   +2 more sources

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

A survey of services for the speech and hearing handicapped in New England [PDF]

, 1950
Thesis (Ed.
Campbell, Marion Margaret, Dunbar, Alice Louise, Farquhar, Mary Stuart, Foster, Honora B., Kiley, Mary Claire, Roberts, Rosalie Ackley, Weinberg, Robert E.   +6 more
core   +2 more sources

Visual Cortical Processing in Children with Early Bilateral Cochlear Implants: A VEP Analysis

Children
Background/Objectives: Cochlear implantation is the primary treatment for severe-to-profound hearing loss, yet outcomes vary significantly among recipients.
Ola Badarni-Zahalka, Ornella Dakwar-Kawar, Cahtia Adelman, Salma Khoury-Shoufani, Josef Attias   +4 more
doaj   +1 more source

Clinical and investigational tools for monitoring noise-induced hyperacusis. [PDF]

J Acoust Soc Am, 2022
Jahn KN.
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

The middle ear muscle reflex: Current and future role in assessing noise-induced cochlear damage. [PDF]

J Acoust Soc Am, 2023
Trevino M, Zang A, Lobarinas E.
europepmc   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source