CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Autor: Del Giudice, E, Macca, M, Imperati, F, D'Amico, A, Parent, P, Pasquier, L, Layet, V, Lyonnet, S, Stamboul Darmency, V, Thauvin Robinet, C, Franco, B, OFD1 Collaborative Group including Bankier A, Oral Facial Digital Type I., White, S, Collins, F, Gardner, M, Keeling, Sl, Tan, T, Mcgaughran, J, Mckenzie, F, Lhotta, K, Abdulla, F, Destree, A, Devriendt, K, Matthijs, G, Ferrier, R, Mcleod, Dr, Friedman, Jm, Heran, H, Graham, Ge, Klatt, R, Teebi, A, Jensen, P, Gilbert, B, Marlin, S, Trousseau, A, Toutain, A, David, A, Odent, S, Héron, D, Burglen, L, Rio, M, Jouk, Ps, Plessis, G, Lespinasse, J, Giuliano, F, Turc Carel, C, Betz, Rc, Heim, S, Klehr Martinelli, M, Kotzot, D, Minnerop, M, Schell Apacik, C, Gal, A, Orth, U, Gillessen Kaesbach, G, Zoll, B, Mucke, J, Tzschach, A, Godde, E, Carmi, R, Brunetti, N, Scarcella, A, Castelluccio, P, Castellan, C, Gerola, O, Bigoni, S, Zelante, L, Foggia, S, Sabato, A, Bianchini, G, Nuova, As, Virdis, R, Ferrero, Giovanni Battista, Selicorni, A, Gurrieri, F, Cuore, S, Megarbane, A, Chiong, Ma, Cutiongco, Em, Obersztyn, E, Kutkowska Kazmierczak, A, Mota, Cr, de Magalhaes, D, Stevanovic, G, Del Pozo JS, Barcina, Mg, Iwarsson, E, Graber, V, Okhowat, R, Shinzel, A, Brunner, Hg, Krapels, I, Hovers, V, Beemer, Fa, Terhal, P, Rump, P, Elcioglu, N, Toprak, O, Burn, J, Henderson, A, Jones, E, Dean, J, Castle, B, Macdonald, F, Farndon, P, Williams, D, Homfray, T, Lees, M, Loughlin, S, Raymond, Fl, Trump, D, Whittaker, J, Smithson, S, Rankin, J, Turner, C, Bird, L, Chibuk, J, Masser Frye, D, Sell, S, Amy, S, Schafer, I, Bartoshesky, Le, Jenny, K, Benke, P, Curry, C, Swenerton, A, Treisman, T, Dunlap, Jw, Shashi, V, Reich, E, Reimschisel, T, Pfau, R, Pober, B, Robertson, J, Roggenbuck, J, Thiese, H.

Publikováno v: Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseases

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous syst

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Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

Autor: Chiong MA; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines. mdchiong1@up.edu.ph.; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines. mdchiong1@up.edu.ph.; Department of Pediatrics, College of Medicine, University of Santo Tomas, Manila, Philippines. mdchiong1@up.edu.ph., Canson DM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines., Abacan MA; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines.; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines., Baluyot MM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines.; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines., Cordero CP; Department of Clinical Epidemiology, College of Medicine, University of the Philippines, Manila, Philippines., Silao CL; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, 625 Pedro Gil St., Ermita, Manila, 1000, Philippines.; Department of Pediatrics, University of the Philippines-Philippine General Hospital, Manila, Philippines.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Jan 11; Vol. 12 (1), pp. 7. Date of Electronic Publication: 2017 Jan 11.

Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features.

Autor: Chiong MA; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines., Tan MA; Department of Pediatrics, Section of Neurology, Philippine General Hospital, University of the Philippines Manila, Philippines., Cordero CP; Department of Clinical Epidemiology, University of the Philippines Manila, Philippines., Fodra EG; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines., Manliguis JS; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines., Lopez CP; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines., Dalmacio LM; Department of Biochemistry, University of the Philippines Manila, Philippines.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2016 Oct 12; Vol. 9, pp. 46-53. Date of Electronic Publication: 2016 Oct 12 (Print Publication: 2016).

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

Autor: Chiu YH; Institute of Genetics, National Yang-Ming University, Taipei, Taiwan., Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT

Publikováno v: Journal of human genetics [J Hum Genet] 2012 Feb; Vol. 57 (2), pp. 145-52. Date of Electronic Publication: 2012 Jan 12.