45 DAFTAR PUSTAKA Agretti, P., G. De Marco., C. Di Cosmo., E

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DAFTAR PUSTAKA
Agretti, P., G. De Marco., C. Di Cosmo., E. Ferrarini., L.Montanelli., B.
Bagattini., P. Vitti., and M. Tonacchera. 2013. Kongenital hypothyroidism
caused by a novel homozygous mutation in the tiroglobulin gene. Eur J
Pediatr. 172:959–964
Ahn, K., Meyer, T.H., Uebel, S., Sempe´ , P., Djaballah, H., Yang, Y., Peterson,
P.A., Fru¨ h, K., and Tampe´ , R. 1996. Molecular mechanism and species
specificity of TAP inhibition by Herpes simplex ICP47. EMBO J. 15, 3247–
3255
Anwar, R. 2005. Fungsi dan Kelainan Kelenjar Tiroid. FK UNPAD. Bandung
Bernal, J. and Nunez, J. 1995. Tyroid hormons and brain development. Europan
Journal of Endocrinology. Pp 390 – 398
Bowen, R. 1999. Control of Thyroid Hormone Synthesis and Secretion. Available
on www.vivocolestate.edu/hbooks/pathphys/endocrine/thyroid/control.html.
diakses tanggal 7 Desember 2016
Brown, BA. 1984. Hematology : Principles and Procedures. 4th edition. Lea and
Febiger. Philadelphia. P 59 – 61
Brown, R.S. & Huang, S. 2004. The Thyroid and It’s Disoreder. In book : C.G.D.,
Clayon. P.E. Brown, R.S. (eds) Clinicat Pediatric Endocrinology. 5th
edition. Blacwell Publising London. Pp 218 - 252
Caputo, M., C.M. Rivolt, V.J. Gutnisky, L. Gruneiro-Papendieck, G.MedeirosNeto, R. Gonza, lez-Sarmiento and H.M. Targovnik, A.Chiesa. 2007.
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in
the tiroglobulin gene in unrelated families with kongenital goiter and
hypothyroidism: haplotype analysis using intragenic tiroglobulin
polymorphisms. Journal of Endocrinology. 195, 167–177
Carageorgiou, H., Pantosa C., Zarrosb, A., Vasileios Stolakisc V., Iordanis
Maourozia., Dennis Cokkinosd., Stylianos Tsakirib. 2007. Changes in
Acetylcholinesterase, Na+ K + -ATPase and Mg2+-ATPasw activities in the
frontal cortex and hippocampus of hyper-and hypotiroid adult rats.
Metabolism Clinical and Experimental. 56 : 1104 – 1110
Chakrabarty, N.C., and D. Chakrabarty. 1997. Fundamentals of Human Anatomy,
New Central Book Agency (P) LTD. Calcutta. Pp 162-167
Citterio, C.E., LC. Rossetti, P. F. Souchon, C. Morales, M. Thouvard-Viprey, A.
S. Salmon-Musial, P.L.A. Mauran,
M. Doco-Fenzy, R. GonzálezSarmiento, C.M. Rivolta, C.D. De Brasi, H.M. Targovnik. 2013. Novel
mutational mechanism in the tiroglobulin gene: Imperfect DNA inversion as
a cause for hereditary hypothyroidism. Molecular and Cellular
Endocrinology. 381. 220–229
45
Citterio, C.E., C. M. Morales, N. Bouhours-Nouet, G. A. Machiavelli, E. Bueno,
F. Gatelais, R. Coutant, R.González-Sarmiento, C. M. Rivolta, H.M.
Targovnik. 2015. Novel compound heterozygous Tiroglobulin mutations
c.745+1G>A/c.7036+2T>A associated with kongenital goiter and
hypothyroidism in a Vietnamese family. Identification of a new cryptic 5'
splice site in the ekson 6. Molecular and Cellular Endocrinology. 404.102–
112
Dohan., O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M. 2003. The
sodium/iodide Symporter (NIS): characterization, regulation, and medical
significance. Endocr Rev. 24:48-77
Dumont, J. E., G. Vassart, and S. Refetoff. Thyroid disorders. 1989. In The
Metabolic Basis of Inherited Diseases. 6th ed. C. R. Scriver, A. L. Beaudet,
W. S. Sly, and D. Valle, editors. McGraw-Hill Inc., New York
Dussault, J.H. 1991. Congenital Hipotiroidism In : The Thyroid A Fundamental
and Clinical Text. Ed. Ingbar, SH. Braverman, L.E. Lippincott Company.
Phiadelphia. 1399 – 1403
Fort, PF., and Brown RS. 1996. Tyroid disorders in infacy. Dalam Lifshift F.
Pediatric Endocrynology. Edisi ketiga. New York. Marcel Dekker : 369
Franklin, L. 2004. EDTA in Blood and Urine Collection. Lab Notes. Vol : 14 no 1
Ganong W.F. 1995. Fisiologi Kedokteran. EGC. Jakarta
Gochhait, S., Malhotra, D., Rai, E., dan Bamezai, RNK. 2007.Automated
Flourescence Sekuensing and Troubleshooting. Soil Biology. 11 : 35 – 51
Greenspan, F.S., dan Gardner, D.G. 2001. Basic and Clinical Endocrynology.
Lange Medical Books. McGrawHill. New York
Gutnisky VJ, Moya CM, Rivolta CM, Domene S, Varela V, Toniolo JV,
Medeiros-Neto G, Targovnik HM. 2004. Two distinct compound
heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in
the tiroglobulin (TG) gene in affected individuals of a Brazilian kindred with
kongenital goiter and defective TG synthe. J.Clin.Endocrinol.Metab. 89 (2) :
646-657
Guyton, 1995. Fisiologi manusia. EGC. Jakarta
Harold H. Lindner, MD, A Lange Medical Book Clinical Anatomy, Appleton &
Lange, Connenticut, 1989. Pp 132-138
Hayashizaki, Y., Hiraoka, Y., Tatsumi, K. 1990. Deoxyribonucleic Acid analysis
of five families with familial inherited tyroid stimulating hormon deficiency.
J.Clin.Endocrine.Metab. 71: 792 – 796
Hishinuma, A., Takamatsu J., Ohyama Y., Yokozawa T., Kanno Y., Kuma K.,
Yoshida S., Matsuura N., and Ieiri T. 1999. Two novel cysteine substitutions
(C1263R and C1995S) of tiroglobulin cause a defect in intracellular
transport of tiroglobulin in patients with congenital goiter and the variant
type of adenomatous goiter. Journal of Clinical Endocrinology and
Metabolism. 84 1438–1444
Hishinuma, A., Fukata, S., Nishiyama, S., Nishi, Y., Oh-Ishi, M., Murata, Y.,
Ohyama, Y., Matsuura, N., Kasai, K., Harada, S., Kitanaka, S., Takamatsu,
46
J., Kiwaki, K., Ohye, H., Uruno, T., Tomoda, C., Tajima, T., Kuma, K.,
Miyauchi, A., Ieiri, T. 2006. Haplotype analysis reveals founder effects of
tiroglobulin gene mutations C1058R and C1977S in Japan. J. Clin.
Endocrinol. Metab. 91, 3100e3104
Horn, S. and Heuer, H. 2010. Review Tyroid homon action during brain
development : More question than answers. Molecullar and Cellular
Endocrinology. 315 : 19 – 26
Hu, Xuyun., R. Chen, C. Fu. Xin Fan, Jin Wang, Jiale Qian, Chuan Li, Jingsi Luo,
Jiasun Su, Shujie Zhang, Bobo Xie, Haiyang Zheng, Yun Chen, Hongdou
Li, Xuefan Gu, Shaoke Chen, Yiping Shen, Shang Yi, Yunli Lai. 2016.
Tiroglobulin gene mutations in Chinese patients with kongenital
hypothyroidism. Molecular and Cellular Endocrinology. 423. 60 66
Jameson, J.L., dan Weetman, 2006. Disorder of The Tyroid Gland in Horrison
Endocrinology. McGraw Hill. New York
Jeso, B.D. and Peter Arvan. 2015. Tiroglobulin in Molecular and Cellular Biology
to Clinical Endocrinology. Endocrine Society. USA.
Kanou Y, Hishinuma A, Tsunekawa K, Seki K, Mizuno Y, Fujisawa H, Imai T,
Miura Y, Nagasaka T, Yamada C, Ieiri T, MurakamiM, Murata Y. 2007.
Tiroglobulin gene mutations producing defective intracellular transport of
tiroglobulin are associated with increased thyroidal type-2 iodothyronine
deiodinase activity. J Clin Endocrinol Metab. 92:1451–1457
Kementrian Kesehatan RI. 2014. Pedoman Skrining Hipotiroid Kongenital. Edisi
Revisi. Katalog dalam Terbitan Kemenkes RI. Jakarta
Knudsen N, Bülow I, Jørgensen T, Perrild H, Ovesen L, Laurberg P. Serum Tg - a
sensitive marker of thyroid abnormalities and iodine deficiency in
epidemiological studies. J ClinEndocrinol Metab. 2001;86(8):3599-603.
Kumorowulan, S. 2008. Analisis Mutasi Gen TSH β-Subunit pada Penderita
Kretin di Jawa Tengah. Naskah thesis. Universitas Gadjah Mada.
Yogyakarta
Leiri. T., P. Cochaux. H. M. Targovnik, M. Suzuki,Shin-Ichi Shimoda, j. Perret,
and G. Vassart'. A 3' splice site mutation in the tiroglobulin gene responsible
for kongenital goiter with hypothyroidism. J. Clin. Invest. 88: 1901-1905
MacGillivray, M.H. 2004. Kongenital hipotiroidism in pescovitz. OH., Eugster,
E.A. (eds). Pediatric Endocrinology : Mechanism, Manifestasion, and
Management. Lippincott William & Wilkins. Philsdhelpia, pp 490 - 507
Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruñeiro-Papendieck L,
Chiesa A, González-Sarmiento R,Targovnik. 2010. HM: Molecular analysis
of kongenital goiters with hypothyroidism caused by defective tiroglobulin
synthesis. Identification of a novel c.7006C 1 T [p.R2317X] mutation and
Expression of minigenes containing nonsense mutations in ekson 7. Clin
Endocrinol. 72: 112–121
Mader, S.S. 2012. Understanding Human Anatomy and Physiology, Fifth Edition.
The McGraw-Hill Companies. New York. P 191
47
Mendive, F.M., Rivolta, C.M., Moya, C.M., Vassart, G., Targovnik, H.M., 2001.
Genomic organization of the human tiroglobulin gene: the complete intronekson structure. Eur. J. Endocrinol. 145, 485e496
Narumi, S., Muroya, K., Asakura, Y., Aachi, M., Hasegawa, T., 2011. Molecular
basis of thyroid dyshormonogenesis: genetic screening in population-based
Japanese patients. J. Clin. Endocrinol. Metab. 96, E1838–E1842
Ningtyas, FM., A.H. Asdie, M.Julia, Y.S. Prabandari. 2014. Eksplorasi kearifan
lokal masyarakat dalam mengkonsumsi pangan sumber zat goiterogenik
terhadap gangguan akibat kurang iodium. National Public Health Journal.
Vol 8 no 7
Niu, D.M., Hsu, J.H., Chong, K.W., Huang, C.H., Lu, Y.H., Kao, C.H., et al.,
2009. Six new mutations of the tiroglobulin gene discovered in taiwanese
children presenting with thyroid dyshormonogenesis. J. Clin. Endocrinol.
Metab. 94, 5045–5052
Nunez, J., D. Couchie, F. Aniello, and AM. Bridoux. 1991. Regulation by Thyroid
Hormone of Microtubule Assembly and Neuronal Differentiation.
Neurochemical Research. Vol 16, No. 9, 1991, pp. 975-982
Pardo, V., Vono-Toniolo, J., Rubio, I.G., Knobel, M., Possato, R.F., Targovnik,
H.M., et al., 2009. The p.A2215D tiroglobulin gene mutation leads to
deficient synthesis and secretion of the mutated protein and kongenital
hypothyroidism with wide phenotype variation. J. Clin. Endocrinol. Metab.
94, 2938–2944
Park, SM and Chatterjee VKK. 2005. Genetics of kongenital hypothyroidism. J
Med Genet. 42: 379–389
Pohlenz J, Mederios-Neto G, Gross JL, Silveiro SP, Knobel M, Refetoff S. 1997.
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused
by a homozygous mutation in the sodium/iodide symporter gene. Biochem
Biophys Res Commun. 240:488–491
Rastogi, MV, and La Franchi SH. 2010. Kongenital hy- pothyroidism. Orphanet J
Rare Dis. 5:17
Reece, William O., 2015. Dukey’s Physiology of Domestic Animal. John and
Wiley Sons. USA P : 628
Rivolta, C.M., Moya, C.M., Gutnisky, V.J., Varela, V., Miralles-García, J.M.,
González Sarmiento, R., Targovnik, H.M., 2005. A new case of kongenital
goiter with hypothyroidism due to a homozygous p.R277X mutation in the
ekson 7 of the tiroglobulin gene: A mutational hot spot could explain the
recurrence of this mutation. J. Clin. Endocrinol. Metab. 90, 3766–3770
Rustama, D.S. 2005. Newborn Screening for Kongenital Hiotiroidsm. Prosiding
Konika XIII. pp 141 – 153
Rusnelly. 2006. Determinan Kejadian GAKY Pada Anak Sekolah Dasar Di
Dataran Rendah Dan Dataran Tinggi Kota Pagar Alam Sumatra Selatan.
Thesis. UNDIP. Semarang.
48
Sanger, F. 1980. Determination of nucleotide sekuence in DNA. Nobel Lecture. 8
December 1980
Selmanoglu, G. dan Kockay, E.A. 2004. Investigation of the effect of patulin on
tyroid and testis and hormon levels in growing male rats. Food and
Chemical Toxicologi. 42 : 721 – 727
Setian, N. 2007. Hypotiroidism in Children : Diagnosis and Treatment. Journal de
Pediatria. 83 : 209 – 218.
Sherwood, L. 2010. Human Physiologi From Gene to System. Seven Edition.
Nealson Education. Kanada
Sunartini, 2005. Neonatal screening for kongenital hipotiroidism. Prevention of
mental retardation in children. Dipresentasikan di the 17 asean conference
of mental retardation. Yogyakarta.
Susiana, S. 2011. Faktor – Faktor Yang Berhubungan Dengan Ekskresi Yodium
Urin (EYU) Pada Anak Sekolah Dasar Di SD N 1 Sumberejo , Kecamatan
Randublatung, Blora. Skripsi. UNDIP. Semarang.
Suzuki K, Kawashima A, Yoshihara A, Akama T, Sue M, Yoshida A, et al. Role
of thyroglobulin on negative feedback autoregulation of thyroid follicular
function and growth. J Endocrinol. 2011; 209(2):169-74.
Targovnik, H.M., Medeiros-Neto, G., Varela, V., Cochaux, P., Wajchenberg, B.L.,
Vassart, G., 1993. A nonsense mutation causes human hereditary kongenital
goiter with preferential production of a 171-nukleotida-deleted tiroglobulin
ribonucleic acid messenger. J. Clin. Endocrinol. Metab. 77, 210–215
Targovnik, H.M., Esperante, S.A., Rivolta, C.M., 2010. Genetics and phenomics
of hypothyroidism and goiter due to tiroglobulin mutations. Mol. Cell.
Endocrinol. 322, 44–55
Targovnik, H.M., Souchon, P.F., Machiavelli, G.A., Salmon-Musial, A.S.,
Mauran, P.L., Sulmont, V., Doco-Fenzy, M., Rivolta, C.M., 2010.
Kongenital goitre with hypothyroidism caused by a novel compound
heterozygous mutations in the tiroglobulin gene. Clin. Endocrinol. 72, 716–
718
Targovnik, H.M., Citterio, C.E., Rivolta, C.M., 2011. Tiroglobulin gene mutations
in kongenital hypothyroidism. Horm. Res. Paediatr. 75, 311–321
Targovnik, H.M., Edouard, T., Varela, V., Tauber, M., Citterio, C.E.,
GonzálezSarmiento, R., Rivolta, C.M., 2012. Two novel mutations in the
tiroglobulin gene as cause of kongenital hypothyroidism. Identification a
cryptic donor splice site in the Ekson 19. Mol. Cell. Endocrinol. 348, 313–
321
van de Graaf, S.A.R., Ris-Stalpers, C., Veenboer, G.J.M., Cammenga, M., Santos,
C., Targovnik, H.M., de Vijlder, J.J.M., Medeiros-Neto, G., 1999. A
prematur stopcodon in tiroglobulin mRNA results in familial goiter and
moderate hypothyroidism. J. Clin. Endocrinol. Metab. 84, 2537–2542
49
van de Graaf, S.A.R., Ris-Stalpers, C., Pauws, E., Mendive, F.M., Targovnik,
H.M., de Vijlder, J.J.M., 2001. Up to date with human tiroglobulin. J.
Endocrinol. 170, 307–321
Vono-Toniolo, J., Kopp, P., 2004. Tiroglobulin gene mutations and other genetic
defects associated with congenital hypothyroidism. Arq. Bras. Endocrinol.
Metabol. 48, 70e82
Waung, J.A., Basset, D., William. G.R. 2012. Tyroid hormon metabolism in
skeletal development and adult bone maintance. Trend Endokrinology and
Metabolisme. 22 : 155 – 162
Wibowo, R.A. dan M. Syamsuri. 2013. Hubungan kadar tiroglobulin, tsh dan
FreeT4 serum pada anak usia sekolah di tiga kabupaten dengan tingkat
endemisitas defisiensi-iodium berbeda. Penelitian Gizi dan Makanan. Vol :
36 (1) 12 - 19
Wibowo, R.A., dan S.N. Wahyuningrum. 2015. “Peran Genetik pada Kasus Kretin
dan Pewarisannya” dalam Patria, S.Y. dan Sudaro, T. (Editor). Kretin.
Pustaka Pelajar. Yogyakarta.
Wirawan R., dan Silman, E. 1996. Pemeriksaan Laboratorium Heatologi
Sederhana. Edisi kedua. UI. Jakarta. P : 14
50
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