[PDF][PDF] COCHLEAR IMPLANTATION IN CHILDREN WITH ENLARGED VESTIBULAR AQUEDUCT (EVA): RELATIONSHIP TO PENDRED SYNDROME DIAGNOSIS …

A Remjasz-Jurek, P Clarós… - Journal of …, 2023 - journalofhearingscience.com
Introduction: The cochlear implant (CI) procedure in patients with inner ear malformations is
challenging. The aim of this study was to evaluate auditory perception and speech …

[PDF][PDF] Protein Kinase Activation and Modulation of Extracellular Vesicle Secretion by the HIV-1 Pathogenicity Factor Nef

Z Zhao - 2021 - helda.helsinki.fi
Abstract By July 17, 2021, the human immunodeficiency virus (HIV) has claimed more than
36.3 million lives worldwide. Currently, an estimated 38 million people are living with HIV …

Cochlear Implant in a Case of Pendred Syndrome-Bilateral Sensorineural Hearing Loss with Hypothyroidism and Goitre

N Gupta - Online Journal of Otolaryngology, 2023 - search.proquest.com
We present a child of Indian origin with Pendred syndrome who underwent cochlear implant
at Mehrotra ENT hospital, Kanpur, India. Patients with Pendred syndrome represent …

[HTML][HTML] Synopsis of the 48th Annual Meeting of the Lake Cumberland Biological Transport Group and the Second Biannual Meeting of the Pendrin Consortium

S Dossena, C Nofziger, R Morabito… - Cellular physiology and …, 2013 - karger.com
Ion transporters are the molecular basis for ion homeostasis of the cell and the whole
organism. The anion exchanger pendrin is only one of a number of examples where a …

Molekulare und funktionale Abklärung hereditärer Schwerhörigkeiten am Beispiel des SLC26A4-Gens

S Roesch, E Bernardinelli, S Wortmann… - Laryngo-Rhino …, 2020 - thieme-connect.com
Die in den vergangenen Jahren zunehmende Verfügbarkeit molekularer
Untersuchungstechniken führt zu einer steigenden Anzahl diagnostizierter genetischer …

An unexpected disease course for a patient with diffuse midline glioma

V Malalasekera, C D'Arcy, C Mignone, A Wray… - Authorea …, 2022 - authorea.com
Diffuse intrinsic pontine glioma (DIPG), now reclassified as diffuse midline glioma (DMG), is
the most common cause of mortality from paediatric central nervous system (CNS) tumours …

[PDF][PDF] Manuscript details

VS Malalasekera, CE D'Arcy, C Mignone, AC Wray - minerva-access.unimelb.edu.au
To the editor: Diffuse midline glioma (DMG) is the most common cause of mortality from
paediatric central nervous system (CNS) tumours. 1, 2 Prognosis is poor, with median …

Pendrin expression in nodular and non-nodular thyroid tissues

B Temel, N Gul, F Kutluturk, Y Kapran… - Endokrynologia …, 2013 - journals.viamedica.pl
Introduction: Different mechanisms for the expression of pendrin which is an apical iodide
transporter have been reported in nodular thyroid tissues compared to normal thyroid. The …

Charakterystyka niedosłuchu u dzieci z zespołem Pendreda oraz wyniki jego leczenia za pomocą implantów ślimakowych–przegląd piśmiennictwa

K Woźniczko, JJ Rajchel, B Dziendziel… - Nowa …, 2020 - nowaaudiofonologia.pl
Wstęp: Zespół Pendreda (ZP) jest chorobą dziedziczoną w sposób autosomalny recesywny.
Szacuje się, że odpowiada za blisko 10% przypadków dziedzicznej utraty słuchu …

Pathogenicity Assessment of Pendrin (SLC26A4) Variants

R Jamontas - 2019 - vb.vgtu.lt
Abstract [eng] The SLC26A4 gene encodes a protein (pendrin, SLC26A4), which is essential
for the proper development and function of the inner ear. SLC26A4 sequence alterations …