Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome

Autor: Gebril Oh, Cheong Ss, Abdelraouf Er, Elsaied M, Eid, Hardcastle Aj

Publikováno v: Journal of Neurology, Neurological Science and Disorders. 3:028-032

Megalocornea is a defi ning feature of megalocornea-mental retardation (MMR) syndromealso calledNeuhauser syndrome, a rare condition of unknown etiology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cfb8e9c19f469ff3c624f1bd0cd9fce4
https://doi.org/10.17352/jnnsd.000017

The role of zinc supplementation on the metallothionein system in children with autism spectrum disorder.

Autor: Meguid NA; Department of Research on Children with Special Needs, National Research Centre, Giza, Egypt.; CONEM Egypt Child Brain Research Group, National Research Center, Giza, Egypt., Bjørklund G; Council for Nutritional and Environmental Medicine (CONEM), Toften 24, 8610, Mo I Rana, Norway. bjorklund@conem.org., Gebril OH; Department of Research on Children with Special Needs, National Research Centre, Giza, Egypt., Doşa MD; Department of Pharmacology, Faculty of Medicine, Ovidius University, Constanţa, Romania., Anwar M; Department of Research on Children with Special Needs, National Research Centre, Giza, Egypt.; Department of Basic Sciences and Biomechanics, Faculty of Physical Therapy, Heliopolis University, Cairo, Egypt., Elsaeid A; Department of Research on Children with Special Needs, National Research Centre, Giza, Egypt., Gaber A; Department of Research on Children with Special Needs, National Research Centre, Giza, Egypt., Chirumbolo S; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; CONEM Scientific Secretary, Verona, Italy.

Publikováno v: Acta neurologica Belgica [Acta Neurol Belg] 2019 Dec; Vol. 119 (4), pp. 577-583. Date of Electronic Publication: 2019 Jul 13.

Investigating the influence of ubiquinone blood level on the abilities of children with specific learning disorder.

Autor: Abdelraouf ER; 1Research on Children with Special Needs Department, Medical Research division, National Research Centre, Elbuhouth Street, 12622, Dokki, Cairo, Egypt.; 2Learning Disability Research Clinic, Medical Research Centre of Excellence, National Research Centre, Cairo, Egypt., Kilany A; 1Research on Children with Special Needs Department, Medical Research division, National Research Centre, Elbuhouth Street, 12622, Dokki, Cairo, Egypt.; 3Pediatric Neurology Research Clinic, Medical Research Centre of Excellence, National Research Centre, Cairo, Egypt., Hashish AF; 1Research on Children with Special Needs Department, Medical Research division, National Research Centre, Elbuhouth Street, 12622, Dokki, Cairo, Egypt., Gebril OH; 1Research on Children with Special Needs Department, Medical Research division, National Research Centre, Elbuhouth Street, 12622, Dokki, Cairo, Egypt., Helal SI; 1Research on Children with Special Needs Department, Medical Research division, National Research Centre, Elbuhouth Street, 12622, Dokki, Cairo, Egypt.; 4Neurology Research Clinic, Medical Research Centre of Excellence, National Research Centre, Cairo, Egypt., Hasan HM; 1Research on Children with Special Needs Department, Medical Research division, National Research Centre, Elbuhouth Street, 12622, Dokki, Cairo, Egypt.; 5Neuropsychiatry Department, Faculty of Medicine, Helwan University, Cairo, Egypt., Nashaat NH; 1Research on Children with Special Needs Department, Medical Research division, National Research Centre, Elbuhouth Street, 12622, Dokki, Cairo, Egypt.; 2Learning Disability Research Clinic, Medical Research Centre of Excellence, National Research Centre, Cairo, Egypt.; 6Phoniatric Research Clinic, Medical Research Centre of Excellence, National Research Centre, Cairo, Egypt.

Publikováno v: The Egyptian journal of neurology, psychiatry and neurosurgery [Egypt J Neurol Psychiatr Neurosurg] 2018; Vol. 54 (1), pp. 39. Date of Electronic Publication: 2018 Nov 27.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Autor: Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca., Beaulieu CL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Gebril OH; National Research Centre, El Bohoth Street, Dokki, Giza 12622, Egypt., Mhanni A; Section of Genetics and Metabolism, Children's Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada., Chudley AE; Section of Genetics and Metabolism, Children's Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada., Redl D; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Qin W; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Hampson S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Küry S; Department of Medical Genetics, CHU Nantes, Nantes 44093, France., Tetreault M; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada., Puffenberger EG; Clinic for Special Children, Strasburg, PA 17579, USA., Scott JN; Department of Radiology, Foothills Hospital, Calgary, AB T2N 2T9, Canada., Bezieau S; Department of Medical Genetics, CHU Nantes, Nantes 44093, France., Reis A; Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen 91054, Germany., Uebe S; Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen 91054, Germany., Schumacher J; Institute of Human Genetics, University of Bonn, Bonn 53012, Germany., Hegele RA; Robarts Research Institute and University of Western Ontario, London, ON N6A 5B7, Canada., McLeod DR; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Gálvez-Peralta M; Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA., Majewski J; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada., Ramaekers VT; Department of Paediatric Neurology, Centre Hospitalier Universitaire, Liege 4032, Belgium., Nebert DW; Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Department of Pediatrics & Molecular Developmental Biology, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Innes AM; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Parboosingh JS; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada., Abou Jamra R; Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen 91054, Germany. Electronic address: rami.aboujamra@medizin.uni-leipzig.de.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2015 Dec 03; Vol. 97 (6), pp. 886-93.

Johnson-McMillin Microtia Syndrome: New Additional Family.

Autor: Abdel-Meguid N; Department of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt., Gebril OH; Department of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt., Abdelraouf ER; Department of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt., Shafie MA; Department of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt., Bahgat M; Department of Ear Nose and Throat, Faculty of Medicine, Cairo University, Cairo, Egypt.

Publikováno v: Journal of family medicine and primary care [J Family Med Prim Care] 2014 Jul; Vol. 3 (3), pp. 275-8.