Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Autor: Almenabawy N; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Ramadan M; Pediatric Department, Ahmed Maher Teaching Hospital, Cairo, Egypt., Kamel M; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Mahmoud IG; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Amer F; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Shaheen Y; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Elnaggar W; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Selim L; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Sep; Vol. 191 (9), pp. 2354-2363. Date of Electronic Publication: 2023 Jul 10.

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Autor: Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Billington CJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA., Barkovich AJ; Departments of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA., Dinkel P; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Heide M; Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany.; German Primate Center, Leibniz Institute for Primate Research, 37077 Goettingen, Germany., Gershon ES; Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA., Gertler TS; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Hopkin RJ; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Division of Human Genetics, Cincinnati, OH 45229, USA., Jacob S; Department of Psychiatry, University of Minnesota, Minneapolis, MN 55454, USA., Keedy SK; Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA., Kooshavar D; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Lockhart PJ; Bruce Lefory Centre, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Lohmann DR; Institut fur Humangenetik, Universitatsklinikum Essen, 45147 Essen, Germany., Mahmoud IG; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt., Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Schrock E; Institute for Clinical Genetics, University Hospital, TU Dresden, 01307 Dresden, Germany., Severi G; Medical Genetics Unit, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA., Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney 2145, Australia., Willis MJH; Uniformed Services University School of Medicine and Naval Medical Center, Department of Pediatrics, San Diego, CA 92134, USA., Zaki MS; Pediatric Neurology Department, Cairo University Children's Hospital, Cairo, Egypt.; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo Governorate 12622, Egypt., Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne 3052, Australia., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55454, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 3274-3287.

ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

Autor: Mahmoud IG; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt., Elmonem MA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Giza, Egypt., Ramadan A; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt., Al-Menabawy NM; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt., El-Gamal A; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt., Mansour L; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Giza, Egypt., Abdel-Hamid MS; Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Giza, Egypt., Abdel-Hady S; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt., Khalifa I; Pediatrics Department, Helwan University, Cairo, Egypt., Ibrahim A; Pediatrics Department, Suez Canal University, Ismailia, Egypt., Solyom A; Enzyvant, Basel, Switzerland., Rolfs A; Albrecht-Kossel-Institute for Neurodegeneration, Rostock University Medical-Centre and Centogene AG, Rostock, Germany., Selim L; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt.

Publikováno v: Clinical genetics [Clin Genet] 2020 Dec; Vol. 98 (6), pp. 598-605. Date of Electronic Publication: 2020 Sep 02.

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

Autor: Cozma C; Centogene AG, Am Strande 7, 18057, Rostock, Germany. Claudia.cozma@centogene.com., Hovakimyan M; Centogene AG, Am Strande 7, 18057, Rostock, Germany., Iurașcu MI; Centogene AG, Am Strande 7, 18057, Rostock, Germany., Makhseed N; Department of Pediatrics, Jahra Hospital, Ministry of Health, Jahra City, Kuwait., Selim LA; Division of Neurology and Metabolism, Kasr Al Ainy School of Medicine, Cairo University Children Hospital, Cairo, Egypt., Alhashem AM; Prince Sultan Military Medical City, Pediatrics, Riyadh, Saudi Arabia.; Alfaisal University, Riyadh, Saudi Arabia., Ben-Omran T; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Mahmoud IG; Division of Neurology and Metabolism, Kasr Al Ainy School of Medicine, Cairo University Children Hospital, Cairo, Egypt., Al Menabawy NM; Division of Neurology and Metabolism, Kasr Al Ainy School of Medicine, Cairo University Children Hospital, Cairo, Egypt., Al-Mureikhi M; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Martin M; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Demuth L; Centogene AG, Am Strande 7, 18057, Rostock, Germany., Yüksel Z; Centogene AG, Am Strande 7, 18057, Rostock, Germany., Beetz C; Centogene AG, Am Strande 7, 18057, Rostock, Germany., Bauer P; Centogene AG, Am Strande 7, 18057, Rostock, Germany., Rolfs A; Centogene AG, Am Strande 7, 18057, Rostock, Germany.; Rostock Medical University, Rostock, Germany.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Aug 27; Vol. 14 (1), pp. 209. Date of Electronic Publication: 2019 Aug 27.

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Autor: Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Maroofian R; Medical Research, RILD Welcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Genetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK., Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway.; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Musaev D; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Mahmoud IG; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt., Selim L; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt., Elbadawy A; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt., Jhangiani SN; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX, 77030, USA., Coban Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Gambin T; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland., Sorte HS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Heiberg A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., McEvoy-Venneri J; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., James KN; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Stanley V; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Belandres D; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Guipponi M; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Ahangari N; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Department of Medical/Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran., Tara F; Women's Health Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical/Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland., Backe PH; Department of Microbiology, Oslo University Hospital, Oslo, Norway.; Department of Medical Biochemistry, University of Oslo, Oslo, Norway., Hamamy H; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Gleeson JG; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Lupski JR; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Karimiani EG; Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran.; Innovative Medical Research Center, Faculty of Medicine, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.; Institute of Genetics and Genomics of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Mar; Vol. 26 (3), pp. 330-339. Date of Electronic Publication: 2018 Jan 17.