المؤلفون: Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::2c2864a4951208740eb522d6f50b63e1
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf

المؤلفون: Nawaz H; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Mujahid; Center of Animal Nutrition, Directorate General of Livestock & Dairy Development, Peshawar 25000, Pakistan., Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Bibi F; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Waqas A; Department Zoology, Division of Science and Technology, University of Education, Lahore 54782, Pakistan., Bari A; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Fardous; Department of Medical Lab Technology (MLT), Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Khan N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Khan A; Faculty of Science, Department of Biological Sciences (Zoology), University of Lakki Marwat, Lakki Marwat 28420, Pakistan., Paracha SA; Department of Anatomy, KMU Institute of Medical Sciences (KIMS), Kohat 26000, Pakistan., Alam Q; Molecular Genomics and Precision Medicine, ExpressMed Laboratories, Block Zinj, Manama 359, Bahrain., Kamal MA; Department of Pharmaceutics, College of Pharmacy, Prince Sattam Bin Abdulaziz University, Al-kharj 11942, Saudi Arabia., Rafeeq MM; Department of Pharmacology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah 21589, Saudi Arabia., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Haq FU; Department of Radiological Sciences, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 12271, Saudi Arabia., Khan S; Hafeez Institute of Medical Sciences, Islamabad 44000, Pakistan.; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan., Mahmood A; Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China., Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh 12271, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore 14611, Pakistan.

المصدر: Genes [Genes (Basel)] 2023 May 19; Vol. 14 (5). Date of Electronic Publication: 2023 May 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Bardet-Biedl Syndrome*/diagnosis , Polydactyly*/genetics , Ciliopathies*, Humans ; Male ; Codon, Nonsense ; Mutation ; Microtubule-Associated Proteins/genetics ; Cytoskeletal Proteins/genetics ; Phosphate-Binding Proteins/genetics

المؤلفون: Mao K; School of Engineering Medicine, Beihang University, Beijing, 100191, China., Borel C; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland., Ansar M; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland.; Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, 1004, Lausanne, Switzerland., Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland.; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece., Froehlich C; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland., Wang B; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China., Xu X; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Li Q; Department of Plastic Surgery, Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221000, China., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland., Zhu H; School of Engineering Medicine, Beihang University, Beijing, 100191, China., Chen Q; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China., Jin F; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Ankamreddy H; Department of Biotechnology, School of Bioengineering, SRMIST, Kattankulathur, Tamilnadu, 603203, India., Singh S; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Zhang H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Wang X; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Chen P; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland., Paracha SA; Anatomy Department, Khyber Medical University Institute of Medical Sciences (KIMS), Kohat, Pakistan., Shah SF; Department of Medicine, KMU Institute of Medical Sciences (KIMS), DHQ Hospital KDA, Kohat, Pakistan., Guida V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Melis D; Department of Medicine, Surgery, and Dentistry, Università University degli of Studi di Salerno, Salerno, Italy., Dallapiccola B; Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Digilio MC; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Novelli A; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Magliozzi M; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Fadda MT; Department of Maxillo-Facial Surgery, Policlinico Umberto I, Rome, Italy., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.; Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges, 1066, Switzerland., Squeo GM; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy., Mancano G; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Gori G; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy., Mariani M; Pediatric Department, ASST Lariana, Santa Anna General Hospital, Como, Italy., Selicorni A; Pediatric Department, ASST Lariana, Santa Anna General Hospital, Como, Italy., Psoni S; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece., Fryssira H; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece., Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, UK.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Marlin S; Centre de Référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France., Biskup S; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy., Zhao S; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Cox TC; Departments of Oral & Craniofacial Sciences and Pediatrics, University of Missouri-Kansas City, Kansas City, MO, 64108, USA., Groves AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Zhang Q; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China. plastic135@126.com., Zhang YB; School of Engineering Medicine, Beihang University, Beijing, 100191, China. zhangyongbiao@buaa.edu.cn.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China. zhangyongbiao@buaa.edu.cn., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland. stylianos.antonarakis@unige.ch.; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland. stylianos.antonarakis@unige.ch.; iGE3 Institute of Genetics and Genomes in Geneva, Geneva, Switzerland. stylianos.antonarakis@unige.ch.

المصدر: Nature communications [Nat Commun] 2023 Apr 11; Vol. 14 (1), pp. 2026. Date of Electronic Publication: 2023 Apr 11.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Goldenhar Syndrome*/pathology, Animals ; Mice ; Facial Asymmetry ; Pedigree ; Forkhead Transcription Factors

المؤلفون: Rao AR; Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan., Nazir A; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Imtiaz S; Department of Genetics, University of Karachi, Karachi 75270, Pakistan., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Waryah YM; Scientific and Ophthalmic Research Laboratory, Sindh Institute of Ophthalmology and Visual Sciences, Hyderabad 71000, Pakistan., Ujjan ID; Department of Pathology, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan., Anwar I; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, 1004 Lausanne, Switzerland., Iqbal A; Department of Zoology, Lahore College for Women University, Lahore 54810, Pakistan., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland.; Department of Endocrinology Diabetes and Metabolism, University Hospital of Lausanne, 1011 Lausanne, Switzerland., Shah I; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Gul K; Department of Genetics, University of Karachi, Karachi 75270, Pakistan.; Department of BioSciences, Faculty of Life Science, Mohammad Ali Jinnah University, Karachi 75400, Pakistan., Baig HMA; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, 1004 Lausanne, Switzerland.; Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur 63080, Pakistan., Waryah AM; Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland.; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, 1004 Lausanne, Switzerland.; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi 74200, Pakistan.

المصدر: Genes [Genes (Basel)] 2023 Feb 03; Vol. 14 (2). Date of Electronic Publication: 2023 Feb 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Bardet-Biedl Syndrome*/genetics, Humans ; Pedigree ; Pakistan ; Phenotype ; Alleles ; Microtubule-Associated Proteins/genetics

المؤلفون: Shah SF; Department of Medicine, Khyber Medical University, Peshawar - Pakistan., Paracha SA; Department of Anatomy, Khyber Medical University, Peshawar - Pakistan., Ullah W; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Muhammad I; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Iqbal S; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Gul A; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Hussain M; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Ullah H; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Zaman S; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan.

المصدر: Drug target insights [Drug Target Insights] 2022 Dec 19; Vol. 16, pp. 49-53. Date of Electronic Publication: 2022 Dec 19 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: About Science Srl Country of Publication: Italy NLM ID: 101310097 Publication Model: eCollection Cited Medium: Print ISSN: 1177-3928 (Print) Linking ISSN: 11773928 NLM ISO Abbreviation: Drug Target Insights Subsets: PubMed not MEDLINE

المؤلفون: Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran., Paracha SA; Anatomy Department, Khyber Medical University Institute of Medical Sciences (KIMS), Kohat, Pakistan., Tafakhori A; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran., Firouzabadi SG; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Chapi M; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran., Baig HMA; Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur, Pakistan., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. alexandre.reymond@unil.ch., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland. stylianos.antonarakis@unige.ch.; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland. stylianos.antonarakis@unige.ch., Ansar M; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland.; Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, 1004, Lausanne, Switzerland.; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.

المصدر: NPJ genomic medicine [NPJ Genom Med] 2021 Nov 11; Vol. 6 (1), pp. 94. Date of Electronic Publication: 2021 Nov 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

المؤلفون: Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald 17475, Germany., Özkoç H; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland., Gesemann M; Department of Molecular Life Sciences, University of Zurich, Zurich 8057, Switzerland., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.; Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges 1066, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald 17475, Germany., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland.; Department of Molecular Life Sciences, University of Zurich, Zurich 8057, Switzerland., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland.

المصدر: Human molecular genetics [Hum Mol Genet] 2020 May 08; Vol. 29 (7), pp. 1132-1143.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Dwarfism/*genetics , Microcephaly/*genetics , Proteasome Endopeptidase Complex/*genetics, Alleles ; Animals ; Child ; Consanguinity ; Developmental Disabilities/complications ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Dwarfism/complications ; Female ; Homozygote ; Humans ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Microcephaly/complications ; Microcephaly/pathology ; Models, Molecular ; Pedigree ; Phenotype ; Zebrafish/genetics

المؤلفون: Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Shetty M; Department of Biomedical Sciences, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, ND, USA., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan., Azam M; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan., Kern I; Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland., Iwaszkiewicz J; Swiss Institute of Bioinformatics, Molecular Modeling Group, University of Lausanne, Lausanne, Switzerland., Farooq O; Bahria University Medical and Dental College, Karachi, Pakistan., Pournaras CJ; Hirslanden Clinique La Colline, Geneva, Switzerland., Malcles A; Department of Ophthalmology, University Hospitals of Geneva, Geneva, Switzerland., Kecik M; Department of Ophthalmology, University Hospitals of Geneva, Geneva, Switzerland., Rivolta C; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University Hospital Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom., Muzaffar W; Armed Forces Institute of Ophthalmology, Rawalpindi, Pakistan., Qurban A; Armed Forces Institute of Ophthalmology, Rawalpindi, Pakistan., Ali L; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan., Aggoun Y; Pediatric Cardiology, Geneva University Hospitals, Geneva, Switzerland., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan., Qamar R; Department of Biosciences, Faculty of Science, COMSATS University, Islamabad, Pakistan., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan., Henry LK; Department of Biomedical Sciences, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, ND, USA., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.; iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland.

المصدر: Human molecular genetics [Hum Mol Genet] 2020 Mar 13; Vol. 29 (4), pp. 618-623.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies/*drug therapy , Membrane Glycoproteins/*deficiency , Membrane Transport Proteins/*deficiency , Retinal Degeneration/*drug therapy , Taurine/*therapeutic use, Adolescent ; Biological Transport ; Cardiomyopathies/metabolism ; Cardiomyopathies/pathology ; Child ; Female ; Humans ; Male ; Pedigree ; Retinal Degeneration/metabolism ; Retinal Degeneration/pathology

المؤلفون: Ansar M; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland., Chung HL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston TX 77030, USA., Al-Otaibi A; King Fahad Medical City, National Neuroscience Institute, 12231 Riyadh, Saudi Arabia., Elagabani MN; Neuroscience Research Center (NWFZ), Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; Freie Universität Berlin, Department of Biology, Chemistry, and Pharmacy, 14195 Berlin, Germany., Ravenscroft TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Scholz R; Center for Molecular Neurobiology (ZMNH), University of Hamburg, 20251 Hamburg, Germany., Abdel Magid T; King Fahad Medical City, National Neuroscience Institute, 12231 Riyadh, Saudi Arabia., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Shah SF; Department of Medicine, KMU Institute of Medical Sciences, 26000 Kohat, Pakistan., Qaisar AA; Radiology department, Lady reading Hospital, 25000 Peshawar, Pakistan., Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Biomedical Research Foundation of the Academy of Athens, 115 27 Athens, Greece., Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Falconnet E; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Current address, Medigenome, The Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Department of Endocrinology Diabetes and Metabolism, University hospital of Lausanne, 1011 Lausanne, Switzerland., Aldhalaan H; King Faisal Specialist Hospital & Research Centre, 12713 Riyadh, Saudi Arabia., Al-Asmari A; Medical Genetics Department, Children's Hospital, King Fahad Medical City, 12231 Riyadh, Saudi Arabia., Faqeih EA; Medical Genetics Department, Children's Hospital, King Fahad Medical City, 12231 Riyadh, Saudi Arabia., Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Kornau HC; Neuroscience Research Center (NWFZ), Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; Center for Molecular Neurobiology (ZMNH), University of Hamburg, 20251 Hamburg, Germany., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston TX 77030, USA; Department of Neuroscience and Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address: stylianos.antonarakis@unige.ch.

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Nov 07; Vol. 105 (5), pp. 907-920. Date of Electronic Publication: 2019 Oct 10.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Developmental Disabilities/*genetics , Dwarfism/*genetics , Guanine Nucleotide Exchange Factors/*genetics , Intellectual Disability/*genetics , Mutation/*genetics, Adult ; Alleles ; Animals ; Child ; Dendritic Spines/genetics ; Drosophila/genetics ; Female ; Humans ; Male ; Mice ; Saudi Arabia ; Synapses/genetics ; Young Adult

المؤلفون: Ansar M; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland., Ullah F; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, 38000 Faisalabad, Pakistan; Pakistan Institute of Engineering and Applied Sciences, 45650 Islamabad, Pakistan., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Adams DJ; Atlantic Health System, Goryeb Children's Hospital, Morristown, NJ 07960, USA., Lai A; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Center for Life Sciences, Blackfan Circle, Boston, MA 02115, USA., Pais L; Medical and Population Genetics Program, Broad Institute of MIT, Cambridge, MA 02142, USA; Center for Mendelian Genomics, Harvard University, Cambridge, MA 02142, USA., Iwaszkiewicz J; Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, 1015 Lausanne, Switzerland., Millan F; GeneDx, Gaithersburg, MD 20877, USA., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Agha Z; Department of Biosciences, COMSATS University, 45500 Islamabad, Pakistan., Shah SF; Department of Medicine, KMU Institute of Medical Sciences, 26000 Kohat, Pakistan., Qaisar AA; Radiology Department, Lady Reading Hospital, 25000 Peshawar, Pakistan., Falconnet E; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland., Zoete V; Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, 1015 Lausanne, Switzerland; Department of Fundamental Oncology, Lausanne University, Ludwig Institute for Cancer Research, Route de la Corniche 9A, 1066 Epalinges, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland., Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Biomedical Research Foundation of the Academy of Athens, 115 27 Athens, Greece., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Department of Endocrinology Diabetes and Metabolism, University Hospital of Lausanne, 1011 Lausanne, Switzerland., Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Walsh C; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Center for Life Sciences, Blackfan Circle, Boston, MA 02115, USA; Medical and Population Genetics Program, Broad Institute of MIT, Cambridge, MA 02142, USA; Center for Mendelian Genomics, Harvard University, Cambridge, MA 02142, USA., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: erica.davis@duke.edu., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address: stylianos.antonarakis@unige.ch.

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Jun 06; Vol. 104 (6), pp. 1073-1087. Date of Electronic Publication: 2019 May 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Craniofacial Abnormalities/*etiology , Dyneins/*genetics , Intellectual Disability/*etiology , Intracranial Arteriovenous Malformations/*etiology , Microcephaly/*etiology , Zebrafish/*growth & development, Adult ; Alleles ; Amino Acid Sequence ; Animals ; Child, Preschool ; Craniofacial Abnormalities/pathology ; Dyneins/chemistry ; Dyneins/metabolism ; Exome ; Female ; Homozygote ; Humans ; Infant ; Intellectual Disability/pathology ; Intracranial Arteriovenous Malformations/pathology ; Male ; Microcephaly/pathology ; Pedigree ; Phenotype ; Protein Conformation ; Sequence Homology ; Exome Sequencing ; Young Adult ; Zebrafish/genetics ; Zebrafish/metabolism