Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.

Autor: Palombo F; Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy.; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Clinica Neurologica, Bologna, Italy., Graziano C; Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy., Al Wardy N; Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Nouri N; Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran.; Craniofacial and Cleft Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Marconi C; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy., Magini P; Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy., Severi G; Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy., La Morgia C; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Clinica Neurologica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Cantalupo G; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.; UOC Neuropsichiatria Infantile, DAI Materno-Infantile, AOUI Verona, Verona, Italy., Cordelli DM; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.; Neuropsychiatry Sant'Orsola-Malpighi University Hospital of Bologna, Bologna, Italy., Gangarossa S; ASP7 Ragusa, Ragusa, Italy., Al Kindi MN; Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al Khabouri M; Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Department of ENT, Al Nahdha Hospital, Ministry of Health, Muscat, Oman., Salehi M; Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran., Giorgio E; Department of Medical Sciences, University of Torino, Turin, Italy., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy., Pisani F; Child Neuropsychiatry Unit, Department of Medicine & Surgery, University of Parma, Parma, Italy., Romeo G; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy., Carelli V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Clinica Neurologica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Pippucci T; Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy. tommaso.pippucci@unibo.it., Seri M; Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy.; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.

Publikováno v: Human genetics [Hum Genet] 2020 Nov; Vol. 139 (11), pp. 1429-1441. Date of Electronic Publication: 2020 Jun 02.

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.

Autor: Al-Amri AH; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom; School of Biomedical Sciences, University of Leeds, United Kingdom; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Oman., Al Saegh A; Genetic & Developmental Medicine Clinic, Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman., Al-Mamari W; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., El-Asrag ME; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt., Al-Kindi MN; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman., Al Khabouri M; Department of Ear, Nose & Throat, Al Nahdha Hospital, Ministry of Health, Muscat, Oman., Al Wardy N; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman., Al Lamki K; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman., Gabr A; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Idris A; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Inglehearn CF; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom., Clapcote SJ; School of Biomedical Sciences, University of Leeds, United Kingdom., Ali M; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom. Electronic address: m.ali@leeds.ac.uk.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2019 Dec; Vol. 62 (12), pp. 103592. Date of Electronic Publication: 2018 Nov 23.

A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.

Autor: Al-Wardy NM; Department of Biochemistry, College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, Oman. E-mail. naiwardi@squ.edu.om., Al-Kindi MN, Al-Khabouri MJ, Tamimi Y, Van Camp G

Publikováno v: Saudi medical journal [Saudi Med J] 2016 Oct; Vol. 37 (10), pp. 1068-75.

Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.

Autor: Al-Futaisi AM; Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman., Al-Kindi MN, Al-Mawali AM, Koul RL, Al-Adawi S, Al-Yahyaee SA

Publikováno v: Pediatric neurology [Pediatr Neurol] 2012 Feb; Vol. 46 (2), pp. 89-93.