Results 111 to 120 of about 149,447 (299)

Integrating pharmacogenomics into clinical trials of hearing disorders. [PDF]

J Acoust Soc Am, 2022
Brutnell TP, Wang X, Bao J.
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Inhibition of the ILK-AKT pathway by upregulation of PARVB contributes to the cochlear cell death in Fascin2 gene knockout mice

Cell Death Discovery
The Fscn2 (Fascin2) gene encodes an actin cross-linking protein that is involved in the formation of hair cell stereocilia and retina structure. Mutations in Fscn2 gene have been linked to hearing impairment and retinal degeneration in humans and mice ...
Rongrong Liu, Wenjing Shang, Yingying Liu, Yi Xie, Jun Luan, Ting Zhang, Ying Ma, Zengxian Wang, Yan Sun, Xicheng Song, Fengchan Han   +10 more
doaj   +1 more source

Systematic Review and Meta-Analysis of the Application of Virtual Reality in Hearing Disorders. [PDF]

J Audiol Otol, 2022
Kwak C, Han W, Bahng J.
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Evaluation of the Recovery of Idiopathic Sudden Sensorineural Hearing Loss Based on Estimated Hearing Disorders. [PDF]

Audiol Res, 2022
Nishimura T, Okayasu T, Morimoto C, Akasaka S, Kitahara T, Hosoi H.   +5 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +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

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

Navigating Whiteness in Australia's Anti‐Racism Movement: A Duoethnographic Inquiry by Women of Colour Scholars

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper applies Critical Race Theory (CRT) to explore how whiteness operates within Australia's anti‐racism movement as a structuring force that shapes discourse, practice and policy. Despite the anti‐racism movement offering crucial spaces for resistance and reform, it remains entangled in Australia's settler‐colonial present and systemic ...
Franka Vaughan, Aish Ravi
wiley   +1 more source