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المؤلفون: 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.

المساهمون: DEL GIUDICE, Ennio, M., Macca, F., Imperati, A., D’Amico, P., Parent, L., Pasquier, V., Layet, S., Lyonnet, V., Stamboul Darmency, C., Thauvin Robinet, Franco, Brunella, Oral Facial Digital Type, I. Collaborative G. r. o. u. p.

المصدر: Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Central nervous system, Neuroimaging, Neuropsychological Tests, Pharmacology, Bioinformatics, Settore MED/03 - GENETICA MEDICA, Ciliopathies, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Central Nervous System Diseases, medicine, Humans, Genetics(clinical), Pharmacology (medical), Orofaciodigital type 1, Neurodevelopmental phenotype, OFD1, Female, Magnetic Resonance Imaging, Mutation, Orofaciodigital Syndromes, Medicine (all), Genetics (clinical), Agenesis of the corpus callosum, 030304 developmental biology, Medicine(all), 0303 health sciences, business.industry, Research, Cilium, Neuropsychology, Cognition, General Medicine, medicine.disease, central nervous system, Porencephaly, 3. Good health, medicine.anatomical_structure, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ce4117a09b52e55c5f27f15a27823e

المؤلفون: Prattichizzo, C, Macca, M, Novelli, V, Giorgio, G, Barra, A, Franco, B, OFDI COLLABORATIVE GROUP ABDULLA F, ORAL FACIAL DIGITAL TYPE I., Abramowicz, M, Amy, S, Schafer, I, Bankier, A, White, S, Barcina, Mg, Bartoshesky, Le, Jenny, K, Beemer, Fa, Benke, P, Betz, Rc, Bianchini, G, Garavelli, L, Bigoni, S, Bird, L, Chibuk, J, MASSER FRYE, D, Brunetti, N, Scarcella, A, Brunner, Hg, Burn, J, Carmi, R, Castellan, C, Castelluccio, P, Castle, B, Chiong, Ma, Cutiongco, Em, Collins, F, Couchon, E, Curry, A, Pastore, M, Curry, C, Swenerton, A, Treisman, T, Dean, J, Devriendt, K, Matthijs, G, Dunlap, Jw, Shashi, V, Elcioglu, N, Farndon, P, Ferrero, Gb, Ferrier, R, Foulds, N, Friedman, Jm, Gal, A, Orth, U, Gardner, M, Gerola, O, GILLESSEN KAESBACH, G, Giuliano, F, TURC CAREL, C, Gödde, E, Graber, V, Graham, Ge, Gurrieri, F, Harbour, L, Henderson, A, Jones, E, Heran, H, Homfray, T, Taylor, R, Iwarsson, E, Jensen, P, JEZELA STANEK, A, Joss, S, Taylor, G, Keeling, Sl, Klatt, R, Teebi, A, KLEHR MARTINELLI, M, Kotzot, D, Lees, M, Loughlin, S, Lhotta, K, Macdonald, F, Mari, Francesca, Renieri, Alessandra, Marlin, S, Mcgaughran, J, Mckenzie, F, Mcleod, Dr, Megarbane, A, Mota, Cr, Mucke, J, Tzschach, A, Obersztyn, E, Okhowat, R, Shinzel, A, Pfau, R, Pober, B, Raymond, Fl, Reich, E, Reimschisel, T, Robertson, J, Roggenbuck, J, Sabato, A, SANCHEZ DEL POZO, J, SCHELL APACIK, C, Schwaab, E, Selicorni, A, Sell, S, Smithson, S, STRAY PEDERSEN, A, Tan, T, Thiese, H, Tol, J, Toprak, O, Trump, D, Whittaker, J, Williams, D, Zelante, L, Zoll, B.

المصدر: Human Mutation, 29, 10, pp. 1237-46
Human Mutation, 29, 1237-46

مصطلحات موضوعية: Male, Adolescent, Genotype, Genetics and epigenetic pathways of disease [NCMLS 6], primary ciliary dysfunction, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Biology, X-linked dominant male lethal, medicine.disease_cause, Bioinformatics, Frameshift mutation, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Cystic kidney disease, OFDI, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Child, mutation analysis, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Cilium, 030305 genetics & heredity, Genetic disorder, Proteins, OFD1, Orofaciodigital Syndromes, medicine.disease, 3. Good health, Developmental disorder, Phenotype, Genetic defects of metabolism [UMCN 5.1], Mutation analysis OFD1 OFDI Primary ciliary dysfunction X-linked dominant male lethal, Female, Sequence Alignment, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::887ba5286d33e0747592d976182a6e79

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المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Mucopolysaccharidosis II/*blood , Mucopolysaccharidosis II/*metabolism, Adolescent ; Child ; Codon, Nonsense/genetics ; Exons/genetics ; Female ; Frameshift Mutation/genetics ; Glycosaminoglycans/blood ; Glycosaminoglycans/metabolism ; Humans ; Iduronate Sulfatase/genetics ; Iduronate Sulfatase/metabolism ; Lysosomal Storage Diseases/blood ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/metabolism ; Male ; Mucopolysaccharidosis II/genetics ; Mutation ; Mutation, Missense/genetics ; Philippines

المؤلفون: De Castro-Hamoy LG; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines. ldhamoy@post.upm.edu.ph.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines. ldhamoy@post.upm.edu.ph., Chiong MA; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines., Estrada SC; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines., Cordero CP; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines.

المصدر: Journal of community genetics [J Community Genet] 2017 Jan; Vol. 8 (1), pp. 9-15. Date of Electronic Publication: 2016 Oct 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

المؤلفون: 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.

المصدر: 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).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

المؤلفون: Schrier SA; Division of Human Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA., Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Aug; Vol. 158A (8), pp. 1865-76. Date of Electronic Publication: 2012 Jun 18.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*diagnosis , Hand Deformities, Congenital/*diagnosis , Intellectual Disability/*diagnosis , Micrognathism/*diagnosis, Abnormalities, Multiple/genetics ; Algorithms ; Face/abnormalities ; Female ; Hand Deformities, Congenital/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Micrognathism/genetics ; Neck/abnormalities ; Polymorphism, Single Nucleotide

SCR Disease Name: Coffin-Siris syndrome

المؤلفون: 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

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

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Asian People* , DNA Mutational Analysis* , Founder Effect*, Phosphorus-Oxygen Lyases/*genetics, Alternative Splicing ; Base Sequence ; Asia, Eastern ; Gene Frequency ; Haplotypes ; Humans ; Linkage Disequilibrium ; Microsatellite Repeats ; Molecular Sequence Data ; Mutation, Missense ; Phosphorus-Oxygen Lyases/deficiency ; Point Mutation ; Prenatal Diagnosis