Zobrazeno 1 - 10
of 18
pro vyhledávání: '"MESH: Hearing Loss, Sensorineural"'
Autor:
Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat
Publikováno v:
Molecular Biology Reports
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
International audience; Background: Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a7013bd19b08c22094a168078bf3c5
https://doi.org/10.1007/s11033-022-07245-z
https://doi.org/10.1007/s11033-022-07245-z
Autor:
Henry Houlden, Thomas Haaf, Pratishtha Varshney, Christian Beetz, Hamid Galehdari, Lucy A Dunbar, Alireza Sedaghat, Richard J.H. Smith, Michael R. Bowl, Aziz El-Amraoui, Kevin T. Booth, David Murphy, Neda Mazaheri, Sandrine Vitry, Kumar N. Alagramam, Ben Fowler, Shruthi VijayKumar, Aboulfazl Rad, Hela Azaiez, Cassidy Petree, Barbara Vona, Sheng-Jia Lin, Gholamreza Shariati, Reza Maroofian, Franz Rüschendorf, Gaurav K. Varshney
Publikováno v:
Human Genetics
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ec2c6de213429b2f5213b9170fe9c29
https://doi.org/10.1007/s00439-020-02254-z
https://doi.org/10.1007/s00439-020-02254-z
Autor:
Teresa María Lizcano Tejado, Antonio Gigante León, Blanca Fernández-Lasquetty Blanc, Nieves Martínez Jiménez, Maria Luisa Villamayor Losada, Rosa-Ana García Laguna
Publikováno v:
NURE Investigación, Vol 10, Iss 66 (2013)
Hearing loss is a significant public health problem. The incidence is difficult to establish because of the lack of data in people under age three, but is estimated about 1 per thousand for severe and profound hearing loss.A cochlear implant (CI) is
Externí odkaz:
https://doaj.org/article/294422d392f145e09fd3f9511724634c
Autor:
Amale, Bousfiha, Zied, Riahi, Lamiae, Elkhattabi, Amina, Bakhchane, Hicham, Charoute, Khalid, Snoussi, Crystel, Bonnet, Christine, Petit, Abdelhamid, Barakat
Publikováno v:
Human Heredity
Human Heredity, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Human Heredity, Karger, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Human Heredity, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Human Heredity, Karger, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
International audience; Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human non-syndromic autosomal recessive deafness (DFNB97). In the present study, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e9640f2dacedd7ba42d79ba0a238b941
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219615
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219615
Autor:
Crystel Bonnet, Sonia Talbi, Christine Petit, Fatima Ammar-Khodja, Merieme Djebbar, Farid Boudjenah, Malika Dahmani, Sofiane Ouhab
Publikováno v:
International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩
International Journal of Pediatric Otorhinolaryngology, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩
International audience; Hereditary distal renal tubular acidosis (dRTA) is a rare disorder characterized by metabolic acidosis due to impaired renal acid excretion. To date, three genes (ATP6V1B1, ATP6V0A4 and SLC4A1) have been reported to be respons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf21a41cd50ecbc1dd4742ae31040a43
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219608
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219608
Autor:
Marwa, Sayeb, Zied, Riahi, Nadia, Laroussi, Crystel, Bonnet, Lilia, Romdhane, Rahma, Mkaouar, Anissa, Zaouak, Jihene, Marrakchi, Ghaith, Abdessalem, Olfa, Messaoud, Oussema, Bouchniba, Nacer, Ghilane, Mourad, Mokni, Ghazi, Besbes, Houda, Yacoub-Youssef, Christine, Petit, Sonia, Abdelhak
Publikováno v:
International Journal of Dermatology
International Journal of Dermatology, Wiley-Blackwell, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩
International Journal of Dermatology, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩
International Journal of Dermatology, Wiley-Blackwell, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩
International Journal of Dermatology, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩
International audience; Background: Co-occurrence of two genetic diseases is challenging for accurate diagnosis and genetic counseling. The recent availability of whole exome sequencing (WES) has dramatically improved the molecular diagnosis of rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3125ce1e9d247b7e4b0c8558244835e3
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219630
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219630
Publikováno v:
Journal of the Acoustical Society of America
Journal of the Acoustical Society of America, Acoustical Society of America, 2018, 144 (2), pp.720-733. ⟨10.1121/1.5049364⟩
Journal of the Acoustical Society of America, Acoustical Society of America, 2018, 144 (2), pp.720-733. ⟨10.1121/1.5049364⟩
The effect of the number of modulation cycles (N) on frequency-modulation (FM) detection thresholds (FMDTs) was measured with and without interfering amplitude modulation (AM) for hearing-impaired (HI) listeners, using a 500-Hz sinusoidal carrier and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::372011f585b27d88a354bd7f582be797
https://pubmed.ncbi.nlm.nih.gov/30180712
https://pubmed.ncbi.nlm.nih.gov/30180712
Autor:
C Le Marechal, R Birkenhäger, Jill L. Elfenbein, Rachel Fisher, S M Da Silva-Costa, Arti Pandya, Edi Lúcia Sartorato, Karen H. Friderici, H Bolz, Eberhard Schneider, G. Van Camp, Richard J.H. Smith, Christian Kubisch, Hela Azaiez, Ellen Wilch, Hannie Kremer, Alessandra Murgia, Thomas Haaf, L. H. Hoefsloot, I del Castillo, Wim Wuyts
Publikováno v:
Clinical Genetics, 78, 267-74
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩
Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81a22f13f414b1582a35773d0e8a9c0
https://doi.org/10.1111/j.1399-0004.2010.01387.x
https://doi.org/10.1111/j.1399-0004.2010.01387.x
Autor:
Dominique Hillaire, Michel Mondain, Jean-Luc Puel, Claudine Berr, Christelle Pommie, Catherine Blanchet
Publikováno v:
Otology and Neurotology
Otology and Neurotology, Lippincott, Williams & Wilkins, 2008, 29 (4), pp.432-40. ⟨10.1097/MAO.0b013e3181719746⟩
Otology and Neurotology, Lippincott, Williams & Wilkins, 2008, 29 (4), pp.432-40. ⟨10.1097/MAO.0b013e3181719746⟩
International audience; OBJECTIVES: To describe the distribution of pure-tone hearing thresholds of a Caucasian population living in the south of France aged 70 years and older. To establish age- and sex-adjusted normative hearing thresholds based on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0285e05f96d40ccc373f47504f0164d6
https://doi.org/10.1097/mao.0b013e3181719746
https://doi.org/10.1097/mao.0b013e3181719746
Autor:
Franck Sturtz, Jean-Michel Vallat, Robert A. Ouvrier, Corinne Magdelaine, Danqing Zhu, S. Grew, Monique M. Ryan, Garth A. Nicholson
Publikováno v:
Neurology
Neurology, American Academy of Neurology, 2008, 70 (19), pp.1678-81. ⟨10.1212/01.wnl.0000311275.89032.22⟩
Neurology, American Academy of Neurology, 2008, 70 (19), pp.1678-81. ⟨10.1212/01.wnl.0000311275.89032.22⟩
Objective: Severe early-onset axonal neuropathy (SEOAN) is a heterogeneous phenotype first delineated by Ouvrier et al., characterized by progressive axonal degeneration with gait problems often progressing to wheelchair requirement and later respira
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dfecb62c3f66e961dda6accac29d5f0
https://doi.org/10.1212/01.wnl.0000311275.89032.22
https://doi.org/10.1212/01.wnl.0000311275.89032.22