换一批Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
第一作者：
Zied,Riahi
第一单位：
Université Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.;Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
作者：
Zied,Riahi [1]
;
Sophie,Boucher [2]
;
Samia,Abdi [3]
;
Fabienne,Wong Jun Tai [4]
;
Amrit,Singh-Estivalet [4]
;
Asadollah,Aghaie [4]
;
Magali,Niasme-Grare [5]
;
Jean-Pierre,Hardelin [6]
;
Asma,Behlouli [7]
;
Malika,Dahmani [8]
;
Sonia,Talbi [8]
;
Yosra,Bouyacoub [1]
;
Rahma,Mkaouar [9]
;
Cherine,Charfeddine [10]
;
Ghita,Amalou [11]
;
Amina,Bakhchane [11]
;
Amale,Bousfiha [12]
;
Sara,Salime [11]
;
Soukaina,Elrharchi [11]
;
Malak,Salame [13]
;
Mouna,Hadrami [13]
;
Ely,Boussaty [14]
;
Hicham,Charoute [15]
;
Mustapha,Detsouli [11]
;
Khalid,Snoussi [16]
;
Hassan,Rouba [11]
;
Hala El,Hachmi [13]
;
Fatimetou,Veten [13]
;
Ghlana,Meiloud [13]
;
Jihene,Marrakchi [17]
;
Rim,Zainine [18]
;
Houda,Chahed [19]
;
Ghazi,Besbes [19]
;
Mediha,Trabelsi [20]
;
Ridha,Mrad [20]
;
Ichraf,Kraoua [21]
;
Sofiane,Ouhab [22]
;
Djamel,Djennaoui [23]
;
Farid,Boudjenah [24]
;
Eliane,Chouery [25]
;
Mirna,Mustapha [26]
;
Ahmed,Houmeida [13]
;
Abdelhamid,Barakat [27]
;
Fatima Ammar,Khodja [8]
;
Mohamed,Makrelouf [28]
;
Akila,Zenati [28]
;
Najeh,Beltaief [19]
;
Sonia,Abdelhak [9]
;
Christine,Petit [29]
;
Crystel,Bonnet [4]
作者单位：
Université Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.;Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
[1]
Department of ear, nose, throat, University Hospital Center in Angers, Angers 49933, France.;Univ Angers, MitoVasc, Equipe MitoLab, CNRS UMR6015, INSERM U1083, Angers 49100, France.
[2]
Laboratoire de Recherche Biochimie Génétique, Université des sciences de la santé, Algiers 16000, Algeria.;Central Laboratory of Clinical Biology, Frantz Fanon Hospital, University Hospital Center of Blida, Blida 9000, Algeria.;Faculty of Medicine, University Blida 1, Blida 9000, Algeria.
[3]
Université Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.
[4]
Université Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.;Service de Biochimie et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris F-75012, France.
[5]
Brain Plasticity Unit, CNRS, École Supérieure de Physique et de Chimie Industrielles Paris, Paris Sciences et Lettres Research University, Sorbonne Université, Inserm, CNRS, Neuroscience Paris Seine-Institut de Biologie Paris Seine, Paris F-75005, France.
[6]
Laboratoire de Recherche Biochimie Génétique, Université des sciences de la santé, Algiers 16000, Algeria.;Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène, Algiers 16000, Algeria.
[7]
Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumédiène, Bab-Ezzouar, Algiers 16000, Algeria.
[8]
Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.
[9]
Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.;Higher Institute of Biotechnology of Sidi-Thabet, University of Manouba, Ariana-Tunis, Tunis 2020, Tunisia.
[10]
Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
[11]
Laboratory of Integrative Biology, Faculty of Sciences Ain Chock, Hassan II University, BP 2693, Maarif, Casablanca 20100, Morocco.;Department of Biology, Faculty of Sciences Ben M'Sick, Hassan II University, Casablanca 20670, Morocco.
[12]
Biomarker Research Unit for Mauritanian Populations, Nouakchott University, Nouakchott 2022, Mauritania.
[13]
Division of Otolaryngology, Department of Surgery, University of California, 9500 Gilman Drive, Mail Code 0666, La Jolla, San Diego, CA 92093.
[14]
Genomic Sequencing Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.;Epidemiology Research Unit, Biostatistics and Bioinformatics, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
[15]
Mohammed VI University of Sciences and Health (UM6SS), BP 82403 Casablanca, Morocco.;Mohammed VI Audition Center, Cheikh Khalifa International University Hospital, BP 82403 Casablanca, Morocco.;Mohammed VI University Hospital, Bouskoura 27182, Morocco.
[16]
Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.;Department of Otorhinolaryngology, District Hospital of Menzel Bourguiba, Bizerte 7050, Tunisia.
[17]
Laboratory of Biomedical Genomics and Oncogenetics LR16IPT05, Pasteur Institute in Tunis, University of Tunis El Manar, Tunis 1002, Tunisia.;Department of Otorhinolaryngology and Maxilofacial Surgery, La Rabta Hospital in Tunis, Tunis 1007, Tunisia.
[18]
Department of Otorhinolaryngology and Maxilofacial Surgery, La Rabta Hospital in Tunis, Tunis 1007, Tunisia.
[19]
Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital in Tunis, Tunis 1002, Tunisia.;LR99ES10 Laboratory of Human Genetics, Faculty of Medicine in Tunis, University of Tunis El Manar, Tunis 1006, Tunisia.
[20]
Child and Adolescent Neurology Department of Neurology, National Institute of Neurology, Tunis 1007, Tunisia.;LR18SP04 Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology in Tunis. University of Tunis El Manar, Tunis 1007, Tunisia.
[21]
Otorhinolaryngology Department, Etablissement Public Hospitalier Bachir Mentouri, Algiers 16000, Algeria.
[22]
Otorhinolaryngology Department, Mustapha Pacha Hospital, Algiers 16000, Algeria.
[23]
Otorhinolaryngology Department, Tizi Ouzou University Hospital Center, Algiers 16000, Algeriaa.
[24]
Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, P.O. Box 36 Byblos, Lebanon.
[25]
Department of Biomedical Science, University of Sheffield, Sheffield S10 2TN, United Kingdom.
[26]
Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.;Genomic Sequencing Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.
[27]
Laboratoire de Recherche Biochimie Génétique, Université des sciences de la santé, Algiers 16000, Algeria.
[28]
Université Paris Cité, Institut Pasteur, Assistance Publique-Hôpitaux de Paris, INSERM, CNRS, Fondation Pour l'Audition, Institut de l'Audition, Institut Hospitalo-Universitaire reConnect, Auditory Therapies Innovation Laboratory, Paris F-75012, France.;Collège de France, Paris F-75005, France.
[29]
医学主题词
人类(Humans);Usher综合征(Usher Syndromes);纯合子(Homozygote);约旦(Jordan);男(雄)性(Male);女(雌)性(Female);聋(Deafness);肌球蛋白类(Myosins);突变(Mutation);近亲(Consanguinity);儿童(Child);钙黏着糖蛋白类(Cadherins);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);连接蛋白类(Connexins);队列研究(Cohort Studies)
DOI
10.1073/pnas.2518445122
PMID
41359850
发布时间
2025-12-23
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Proceedings of the National Academy of Sciences of the United States of America
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