Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients

Autor: Aglan, MS, Abdel-Aleem, AK, EL-Katoury, A IS, Hafez, MH, Saleem, SN, Otaify, GA, Temtamy, SA

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 10, No 1 (2009)

Background: Achondroplasia is the most common form of non lethal skeletal dysplasia. It is a fully penetrant autosomal dominant disorder and the majority of cases are sporadic resulting from de novo mutations associated with advanced paternal age. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::4b668c756260429ce468c6a87f8cb166
https://www.ajol.info/index.php/ejhg/article/view/44156

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.

Autor: Olthof AM; Physiology and Neurobiology Department, University of Connecticut, 75 N. Eagleville Road, Storrs, CT 06269, USA., White AK; Physiology and Neurobiology Department, University of Connecticut, 75 N. Eagleville Road, Storrs, CT 06269, USA., Mieruszynski S; Epigenetics and Development Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia., Doggett K; Epigenetics and Development Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia., Lee MF; Physiology and Neurobiology Department, University of Connecticut, 75 N. Eagleville Road, Storrs, CT 06269, USA., Chakroun A; Neurogenetics, Weill Cornell Medicine-Qatar, Doha, Qatar., Abdel Aleem AK; Neurogenetics, Weill Cornell Medicine-Qatar, Doha, Qatar., Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada., Magnani C; Neonatology and Neonatal Intensive Care Unit, Maternal and Child Department, University of Parma, Parma, 43121, Italy., Roifman CM; Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON M5G 1X8, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada., Heath JK; Epigenetics and Development Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia., Kanadia RN; Physiology and Neurobiology Department, University of Connecticut, 75 N. Eagleville Road, Storrs, CT 06269, USA.; Institute for System Genomics, University of Connecticut, Storrs, CT 06269, USA.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2021 Apr 06; Vol. 49 (6), pp. 3524-3545.

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

Autor: Mahmoud IG; Neurology and Neurometabolic Departments, Cairo University Children Hospital, Cairo, Egypt., Mahmoud M; Stem Cell Research Laboratory, Centre for Advanced Sciences-National Research Centre, Cairo, Egypt., Refaat M; Stem Cell Research Laboratory, Centre for Advanced Sciences-National Research Centre, Cairo, Egypt., Girgis M; Neurology and Neurometabolic Departments, Cairo University Children Hospital, Cairo, Egypt., Waked N; Department of Pediatrics, 6(th) October University, Cairo, Egypt., El Badawy A; Neurology and Neurometabolic Departments, Cairo University Children Hospital, Cairo, Egypt., Selim L; Neurology and Neurometabolic Departments, Cairo University Children Hospital, Cairo, Egypt., Hassan S; Genetics and Neurometabolic Departments, Cairo University Children Hospital, Cairo, Egypt., Abdel Aleem AK; Stem Cell Research Laboratory, Centre for Advanced Sciences-National Research Centre, Cairo, Egypt; Neurogenetics Laboratory, Weill Cornell Medical College in Qatar, Doha, Qatar; Department of Neurology, Weill Cornell Medical College, New York, New York. Electronic address: aka2005@qatar-med.cornell.edu.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2014 Feb; Vol. 50 (2), pp. 140-8. Date of Electronic Publication: 2013 Oct 24.