Sultana M. H. Faradz - Undip

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17 18. 19. 20. 21 22. 23. 25. 26. 27. 28. 29. 24. Livingstone, 'VIUv""" "', 'VU"~ 2001. 'OJ. """~'1" .. ...,...",...".v.." ...~..,~, ~","",w~, -"""'...'" Epstein CJ. Down syndrome (Trisomy 21). In Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and motecular basic of inherited disease. New York: Mc Graw Hill, 1995:749-81. Selikowitz M. Down syndrome the fact. Oxford: Oxford University Press, 1991 Faradz SMH. Studi sitogenetik dan molekuler pada anak-anak dengan retardasi mental di kotamadia Semarang (dengan perhatian khusus pada sindrom fragile X). Jurpal Kedokteran YARSI vol? na.3, 1999 Faradz SMH, Martina R, Analisis 8itugenetika pada penderita slndrorl1 Do..vn di Semarang. Laboratorium Bioteknologi FK Undip. Data tak terpublikasi, 2000 Juniarto AZ, Ngestiningsih D. Faradz SMH. Identifikasi sindrom retardasi mental fragile-X dengan pendekatan metoda baru, sederhana, murah dan cepat menggunakan tes antibodi pada preparat darah hapus dan akar rambut. Laboratorium Bioteknologi FK Undip. Penelitian masih berjalan, 2004 Faradz SMH, Patrianingrum M. Korelasi antara usia ibu saat melahirkan dengan kejadian sindrom Down. Laboratorium Bioteknologi FK Undip. Data tak terpub!ikasi, 2000 Hagerman RJ and Hagerman PJ. Fragile X syndrome, diagnosis, treatment and research. Baltimore, Johns Hopkins Universi~' Press.2002 Sutherland GR, Hecht F. Fragile sites on human chromosome, Oxford, Oxford University Press, 1985. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, et al. Identification of a gene (FMR-1) corltaining a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in the fragile X syndrome. Cell 1991; 65: 905-14. Gillberg C, Coleman M. Autism and medical disorders: a review of the literature. Dev Med Child Naurol;38: 191-202, 1996 Skegg,DCG. Autism and Measles-Mumps-Rubella (MMR) vaccination: A challenge for pharmacoepidemiology. Pharmacotherapy 23 (12): 1521-1523, 2003 Faradz, SMH. Aspek Genetik Autisme. Seminar on Frag.;e X Mental Retardation, Autism and related disorders, 19 Januari 2002 Kooy RF, Oostra BA, Willems PJ. The fragile X syndrome and other fragile site disorders. In: Oostra BA (ed) Trinucleotide diseases and instability. Springer- Verlag Berlin Heidelberg New York, 1998 37
30. 34. 38. 38 31. 32. 33. 35. 36. 37. 39. 40. 41. 42. Turner G, Webb T, Wake S and Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996; 64:196-197. Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macpherson J, Pound M, Jacobs P. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996; 5:727-735. Rousseau, F., Rouillard, P., Morel, M-L., Khandjian, E., W., Morgan, K. Prevalence of camers of premutation~size alleles of the FMR-1 gene- and implications Tor the population genetics of ihe fragile X syndrome. Am. J. Hum. Genet. 1995; 57: 1006-1018. Barch MJ, Knutsen TK, Spurbeck JL (eds). The AGT Cytogenetics Laboratory Manual. New York, Lippincott-Raven Press Ltd, 1997 Willemsen R, Mohkamsing S, de Vries B, Devys 0, van den Ouweland A, Mandel JL, Galjaard H, Oostra B. Rapid antibody test for fragile X syndrome. Lancet 1995; 345:11471148. Willemsen R, Oostra BA. FMRP detection assay for the diagnosis of the fragile X syndrome. Am J Med Genet 2000, 97: 183-188 Eichler EE, Holden JJA, Popovich BW, ReissAL, Snow K ei al. Length of uninterrupted CGG repeats dete:rmines instability in the FMR1 gene. Nature Genetics 1994;8:88-94. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS. Variation orthe CGG repeat at the F=ragile X site resuit5 in genetics instabil:ty: Resolutiori of the Sherman paradox. Cell 1991;67:1047-58. Richards RI, Sutherland GR. Fragile X syndrome. The molecular picture comes into focus. Trends in Genetics 1992; 8: 249-255. Sutherland GR, Baker E. Characterisation of a new rare fragile site easily confused with the fragile X. Human Molecular Genetics 1992; 1: 111-113, Faradz SMH, Soemantri AG, Lam-Po- Tang PRL, Lindeman R, Wright F. Fragile X mental retardation in an Indonesian Family. Med.J.lndonesia 1995; 4:17-23. Faradz SMH, Lam-Po- Tang PRL, Suyitno H, Soemantri AG. Chromosomal abnormalities in mentally retarded boys other than Down syndrome in Indonesian special schools, Med J. Indonesia 1996;5: 123-126 Faradz Sultana MH, Leigh 0, Buck!ey M, Holden J. Molecular screening for fragile-X syndrome Cimong Indonesian children with dev"lopmental disability. American Joumai of ~"ecical Ge:1etics, 1999;83(4)
Page 1 and 2: PIDATO PENGUKUHAN '344-- Dipresenta
Page 4 and 5: dasar etiologi den patogenesis Peny
Page 6 and 7: 30.000-50.000 gen dan di daJam satu
Page 8 and 9: Pada tahun 1992, American Associati
Page 10 and 11: pemeriksaan kromosom6. Oahulu penya
Page 12 and 13: Pede bayi baru lahir~ dokter akan m
Page 14 and 15: Ada beberapa hipotesis yang berusah
Page 16 and 17: 3. 4. Sind rom Down dl Kotamadia se
Page 18 and 19: tuanya 11. Apabila ditemukan hanya
Page 20 and 21: gen-gen rentan yang menimbulkan aut
Page 22 and 23: mengandung FMRP. Menurut Willemsen,
Page 24 and 25: maka awal dari mutasi dapat didetek
Page 26 and 27: ahwa bangsa Indonesia berasal dati
Page 28 and 29: dari daerah dengan prevalensi tingg
Page 30 and 31: pemeriksaan darahibu dan atau kromo
Page 32 and 33: Revolusi genom dengan pemetaan geno
Page 34 and 35: membimbing saya dan mendorong saya
Page 36 and 37: at as bantuannya kepada teJnan-tema
Page 42 and 43: 3. No. 4. Netherlands PENOffilKAN T
Page 44 and 45: 6. PENGALAMAN DI BffiANG PENELITIAN
Page 46 and 47: 4. 3. Fluorescent Staining for lIum
Page 48 and 49: Genetic, from basic to clinic with

Sultana M. H. Faradz - Undip

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