Molecular diagnosis of multiple malformation syndrome
Torii, C.; Kosaki, K.
Nihon Rinsho. Japanese Journal of Clinical Medicine 63(Suppl 12): 431-436
2005
ISSN/ISBN: 0047-1852 PMID: 16416829 Document Number: 594292
Document emailed within 1 workday
Related Documents
Dallapiccola, B.; Mingarelli, R.; Zelante, L. 1993: Current advances in the cytogenetics and molecular biology of the diagnosis of malformation syndromes La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics 15 Suppl. 1: 10-13Watzek, H. 1981: Prenatal sonographic diagnosis of multiple malformation in foetus--formation of ventral cleft and cephalocele Zentralblatt für Gynakologie 103(2): 96-101
Weyand, C.M.; Hafner, V.; Kaiser, M.; Goronzy, J.J. 1998: Giant cell arteritis--a molecular approach to the multiple facets of the syndrome Annales de Medecine Interne 149(7): 420-424
Shah, S.R.; Raghavan, R.; Desai, D.C.; Chauhan, P.H.; Lala, M.; Dherai, A.J.; Ashavaid, T.F. 2008: An Indian family of multiple endocrine neoplasia type 1 (MEN1): molecular diagnosis, treatment and follow up Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology 27(6): 242-244
Grossman, A.; Mathew, A.; O'Connell, M.P.; Tiso, P.; Distenfeld, A.; Benn, P. 1990: Multiple restriction enzyme digests are required to rule out polymorphism in the molecular diagnosis of chronic myeloid leukemia Leukemia 4(1): 63-64
Ben Jemaa, L.; Khemir, S.; Maazoul, F.; Richard, L.; Beldjord, C.; Chaabouni, M.; Chaabouni, H. 2008: Molecular diagnosis of fragile X syndrome La Tunisie Medicale 86(11): 973-977
Pangkanon, S. 2003: Molecular diagnosis of Prader-Willi syndrome Journal of the Medical Association of Thailand 86(Suppl 3): S510-S516
Niikawa, N. 1999: Molecular-genetic approach to congenital malformation syndromes No to Hattatsu 31(2): 105-113
Philippe, H.J.; Blanc, P.; Dompeyre, P.; Paupe, A.; Lenclen, R.; Philippe, J. 1992: Lowe's syndrome. Molecular biology techniques in prenatal diagnosis Archives Francaises de Pediatrie 49(1): 69-70
Hanicka, M.; Stepniewska-Rylska, M.; Binda, M. 1979: Rare malformation syndrome in a newborn infant (the Smith-Theiler-Schachenmann syndrome) Pediatria Polska 54(1): 93-94
Brém, G.; Brening, B. 1993: Use of molecular genetic diagnosis of malignant hyperthermic syndrome (MHS) in selection of pigs Genetika 29(6): 1009-1013
Zídková, H.; Kolár, J.; Sprindrich, J.; Matĕjovský, Z.; Slavík, M.; Povýsil, C. 1982: Diagnosis of malignant transformation in the multiple exostoses syndrome Acta Chirurgiae Orthopaedicae et Traumatologiae Cechoslovaca 49(4): 333-338
Elston, D.M. 2006: What is your diagnosis? Cowden disease (multiple hamartoma syndrome) Cutis 78(1): 28 51-2
Wiriyaukaradecha, S.; Patmasiriwat, P.; Wasant, P.; Tantiniti, P. 2003: Molecular markers for diagnosis of Prader-Willi syndrome in thai patients by fish Southeast Asian Journal of Tropical Medicine and Public Health 34(4): 881-886
Kuznetsov, N.S.; Bel'tsevich, D.G.; Poliakova, E.I.; Vasil'ev, E.V.; Nemtsova, M.V. 2002: Diagnosis and treatment of syndrome of multiple endocrine neoplasia type 2 Khirurgiia 2: 4-9
Jönsson, S.; Lewerin, C.; Jacobsson, S.; Wadenvik, H. 2006: Hypereosinophilic syndrome--difficult-to-catch diagnosis. Targeted molecular diagnostics and treatment now possible thanks to gene discovery Lakartidningen 103(36): 2556-2559
Spirin, N.N.; Shipova, E.G.; Shumakov, E.I.; Stepanov, I.O. 2006: Vertebral syndrome in multiple sclerosis: causes, clinical peculiarities and problems of differential diagnosis Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova Spec No 3: 50-55
Wajgt, A.; Wiktorowicz, K.; Torliński, L. 1974: Administration of encephalitogenic basic protein in the diagnosis of multiple sclerosis and Guillain-Barré syndrome Neurologia i Neurochirurgia Polska 8(5): 653-662
Durán Domínguez, M.; Molina Carrillo, M.; Fernández Toral, J.; Martínez Merino, T.; López Arístegui, M.A.; Alvarez Retuerto, A.I.; Onaindía Urquijo, M.L.; Tejada Mínguez, M.I. 2001: Molecular diagnosis of fragile X syndrome with polymerase chain reaction: application of a diagnostic protocol in 50 families from northern Spain Anales Espanoles de Pediatria 54(4): 331-339
Fukushima, Y. 1989: Chromosome and molecular genetics--molecular analysis of aniridia-Wilms' tumor syndrome Rinsho Byori. Japanese Journal of Clinical Pathology Spec no 80: 38-46