Results 81 to 90 of about 66,726 (167)

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

Clinical Genetics, Volume 110, Issue 5, Page 639-641, November 2026.
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

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

SAGE Open Medical Case Reports, 2017
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families.
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien   +8 more
doaj   +1 more source

Arrhythmia in thiamine responsive megaloblastic anemia syndrome

The Turkish Journal of Pediatrics, 2018
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness.
Mustafa Argun, Ali Baykan, Nihal Hatipoğlu, Leyla Akın, Yavuz Şahin, Nazmi Narin, Selim Kurtoğlu   +6 more
doaj   +1 more source

Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome

Case Reports in Dentistry, 2013
KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so ...
Sera Sımsek Derelioglu, Yücel Yılmaz, Sultan Keles   +2 more
doaj   +1 more source

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.

, 2008
Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early differentiation arrest in the myeloid lineage and impaired lymphoid maturation.
Demerens-de Chappedelaine, Corinne, Frédéric Rieux-Laucat, Michel, Vincent, Six, Emmanuelle M, Cavazzana-Calvo, Marina, Alain Fischer, Mullikin, James, Fischer, Alain, Rieux-Laucat, F, Picard, Claude, Capucine Picard, Micheli, V, Alina Ferster, Calvo, F, Chantal Lagresle-Peyrou, Laurent Abel, Simon-Stoos, Karen L, Céline Besse, Rieux-Laucat, Frédéric, Valensi, Françoise, Françoise Valensi, James C Mullikin, Fabien Calvo, Vincent Michel, Wulffraat, Nicolas, Simon-Stoos, Karen, Lenora M Noroski, Six, Emmanuelle, Morillon, Estelle, Corinne Demerens-de Chappedelaine, Petit, Christine, Manuel M Abecasis, Marina Cavazzana-Calvo, Chappedelaine, Corinne Demerens-De, Mullikin, James C, Abecasis, Manuel M, Abel, L., Emmanuelle M Six, Fabio Candotti, Abecasis, Manuel, Besse, Céline, Candotti, Fabio, Noroski, Lenora, Andrea Ditadi, Karen L Simon-Stoos, Calvo, Fabien, Estelle Morillon, Nicolas M Wulffraat, Ditadi, Andrea, Noroski, Lenora M, Ferster, Alina, Fischer, A., Christine Petit, Abel, Laurent, Lagresle-Peyrou, Chantal, Picard, Capucine, Wulffraat, Nicolas M   +56 more
core   +1 more source

Heart rate variability in children with congenital sensorineural deafness [PDF]

, 2010
We hypothesized that decreased sympathetic/parasympathetic balance as a result of the absence of auditory stimuli on the autonomic nervous system might be an explanation for our previous finding of lower mean heart rate in congenitally deaf children.
Ercan Tutar, Tayfun Uçar, Semra Atalay, Mustafa Tekin   +3 more
core  

Sudden total bilateral deafness due to asymptomatic mumps infection

, 1998
Mumps is the most common cause of unilateral acquired sensorineural hearing loss in children. Although it usually affects the salivary glands, the inner ear may be involved.
Katircioglu, S, Yusufhan Suoglu, M Can Karatay, Aslan, I, Burak Erdamar, Karatay, MC, Erdamar, B, Murat Unal, Suoglu, Y, Unal, M, Sami Katircioglu, Ismet Aslan   +11 more
core   +1 more source

Foramina Parietalia Permagna Syndrome

Pediatric Neurology Briefs, 1998
A boy, born with a soft cranium, had symmetrical defects in the parietal bones, small head, triangular face, micrognathia, small mouth, downslanted palpebral fissures, arched eyebrows, short webbed neck, branchial fistulae, and sensorineural deafness.
J Gordon Millichap
doaj   +1 more source

Psychosocial experiences of sensorineural congenital deaf adolescent learners [PDF]

, 2015
: The aim of this study was to identify and describe the psychosocial experiences adolescents with sensorineural deafness, attending a special school in Lenasia.
Ebrahim, Zeenat
core  

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness

Neural Plasticity, 2016
Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness ...
Penghui Chen, Longxia He, Xiuhong Pang, Xiaowen Wang, Tao Yang, Hao Wu   +5 more
doaj   +1 more source