Results 71 to 80 of about 1,143,125 (138)

Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Journal of Translational Medicine, 2008
Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations.
Wu Bailin, Yuan Huijun, Kang Dongyang, Yu Fei, Zhu Xiuhui, Huang Deliang, Yuan Yongyi, Dai Pu, Han Dongyi, Wong Lee-Jun C   +9 more
doaj   +1 more source

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

, 1997
Pendred syndrome is the association between congenital sensorineural deafness and goitre. The disorder is characterised by the incomplete discharge of radioiodide from a primed thyroid following perchlorate challenge.
Coffey, R, Fraser, GR, Pembrey, ME, Armour, JA, Grossman, Ashley, Luxon, LM, Gausden, E, Coyle, B, Phelps, PD, Reardon, W, Kendall-Taylor, P, Stephens, D, Winter, RM, Grossman, A, Trembath, R   +14 more
core   +1 more source

Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family

Pendred syndrome is the autosomal recessively transmitted association of familial goiter and congenital deafness. There is no specific biochemical marker of this disease, and the diagnosis depends upon the demonstration of the triad of congenital ...
San Lazaro C, Trembath R, Vaidya B, Kendall-Taylor P, Reardon W, Coffey R, Coyle B   +6 more
core   +5 more sources

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

Cellular Physiology and Biochemistry, 2013
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 complete or partial loss of function and/or deregulation of expression of ion ...
Silvia Dossena, Charity Nofziger, Rossana Morabito, Norma C. Adragna, Markus Paulmichl   +4 more
doaj   +1 more source

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 more
wiley   +1 more source

Genetic Hearing Loss Associated With Autoinflammation

Frontiers in Neurology, 2020
Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or auditory pathways in the central nervous system. Sensorineural hearing loss can be associated with age, exposure to ototoxic drugs or noise, or mutations in ...
Hiroshi Nakanishi, Hiroshi Nakanishi, Pragya Prakash, Taku Ito, Taku Ito, H. Jeffrey Kim, Carmen C. Brewer, Danielle Harrow, Isabelle Roux, Seiji Hosokawa, Andrew J. Griffith   +10 more
doaj   +1 more source

Patients with Pendred syndrome: is cochlear implantation beneficial?

, 2016
OBJECTIVE: To evaluate the benefit of cochlear implantation in patients with Pendred syndrome. DESIGN: Retrospective study. SETTING: Tertiary centre. PARTICIPANTS AND MAIN OUTCOME MEASURES: Speech perception was measured using a phonetically balanced ...
W.J. Huinck, Nierop, J.W.I. van, Kunst, H.P.M., H.P.M. Kunst, R.J.E. Pennings, J.W.I. van Nierop, E.A.M. Mylanus, Huinck, W.J., Mylanus, E.A.M., Admiraal, R.J.C., Pennings, R.J.E., R.J.C. Admiraal   +11 more
core   +1 more source

Paediatric thyroid disease

Clinical Endocrinology, Volume 101, Issue 3, Page 223-233, September 2024.
Abstract The spectrum of thyroid disorders presenting to paediatricians is different to that seen by adult physicians. Referrals reflect cases detected by the neonatal screening programme for congenital hypothyroidism and many of the inherited defects of thyroid hormone generation or action will be manifest in early life. Autoimmune thyroid disease can
Timothy Cheetham, Claire Wood
wiley   +1 more source

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

, 1997
Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By some estimates, the disorder may account for upwards of 10% of hereditary deafness.
Andreas Buchs, John C. Beck, Green, Eric D., Ma'ayan Heyman, Baxevanis, Andreas D., Heyman, Ma'ayan, Adawi, Faiad, Benjamin Glaser, Glaser, Benjamin, Sheffield, Val C., Beck, John C., Faiad Adawi, Andreas D. Baxevanis, Jacquelyn R. Idol, Eric D. Green, Elizur Hazani, Hazani, Elizur, Elias Nassir, Val C. Sheffield, Idol, Jacquelyn R., Lorraine A. Everett, Nassir, Elias, Everett, Lorraine A., Buchs, Andreas   +23 more
core   +1 more source

Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology

Clinical Genetics, Volume 106, Issue 1, Page 102-108, July 2024.
Putative phenotypic impact of FOXL2 variants. The different sub‐units of the preproprotein are indicated: the peptide signal (gray); the poly‐glycine region (green); the Forkhead region (yellow); the two conserved poly‐alanine regions (red) and the poly‐proline region (dark blue).
Pénélope Jordan, Camille Verebi, Bérénice Hervé, Sandrine Perol, Zeina Chakhtoura, Carine Courtillot, Anne Bachelot, Daphné Karila, Céline Renard, Virginie Grouthier, Stanislas Mulot de la Croix, Valérie Bernard, Corinne Fouveaut, Aude Brac de la Perrière, Sophie Jonard‐Catteau, Philippe Touraine, Geneviève Plu‐Bureau, Jean Michel Dupont, Sophie Christin‐Maitre, Thierry Bienvenu   +19 more
wiley   +1 more source