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2012
C. Huang, Yang, Y. - F., Zhang, H., Xie, L., Chen, J. - L., Wang, J., Tan, Z. - P., and Luo, H., Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China, vol. 11, pp. 2321-2327, 2012.
Cassidy SB and Driscoll DJ (2009). Prader-Willi syndrome. Eur. J. Hum. Genet. 17: 3-13. http://dx.doi.org/10.1038/ejhg.2008.165 PMid:18781185 PMCid:2985966   Chen JL, Yang YF, Huang C, Wang J, et al. (2012). Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies. Am. J. Med. Genet. A 158A: 685-688. http://dx.doi.org/10.1002/ajmg.a.34434 PMid:22307725   Edelman EA, Girirajan S, Finucane B, Patel PI, et al. (2007). Gender, genotype, and phenotype differences in Smith- Magenis syndrome: a meta-analysis of 105 cases. Clin. Genet. 71: 540-550. http://dx.doi.org/10.1111/j.1399-0004.2007.00815.x PMid:17539903   Elsea SH and Girirajan S (2008). Smith-Magenis syndrome. Eur. J. Hum. Genet. 16: 412-421. http://dx.doi.org/10.1038/sj.ejhg.5202009 PMid:18231123   Engelstad H, Carney G, S'aulis D, Rise J, et al. (2011). Large contiguous gene deletions in Sjogren-Larsson syndrome. Mol. Genet. Metab. 104: 356-361. http://dx.doi.org/10.1016/j.ymgme.2011.05.015 PMid:21684788 PMCid:3196763   Gamba BF, Vieira GH, Souza DH, Monteiro FF, et al. (2011). Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. Genet. Mol. Res. 10: 2664-2670. http://dx.doi.org/10.4238/2011.October.31.17 PMid:22057962   Girirajan S, Elsas LJ, Devriendt K and Elsea SH (2005). RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J. Med. Genet. 42: 820-828. http://dx.doi.org/10.1136/jmg.2005.031211 PMid:15788730 PMCid:1735950   Girirajan S, Vlangos CN, Szomju BB, Edelman E, et al. (2006). Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet. Med. 8: 417-427. http://dx.doi.org/10.1097/01.gim.0000228215.32110.89 PMid:16845274   Greenberg F, Guzzetta V, Montes dO-L, Magenis RE, et al. (1991). Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 49: 1207-1218. PMid:1746552 PMCid:1686451   Greenberg F, Lewis RA, Potocki L, Glaze D, et al. (1996). Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am. J. Med. Genet. 62: 247-254. http://dx.doi.org/10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q   Gropman AL, Duncan WC and Smith AC (2006). Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr. Neurol. 34: 337-350. http://dx.doi.org/10.1016/j.pediatrneurol.2005.08.018 PMid:16647992   Huang C, Yang YF, Yin N, Chen JL, et al. (2012). Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion. Gene 498: 308-310. http://dx.doi.org/10.1016/j.gene.2012.01.083 PMid:22366306   Kalay E, Uzumcu A, Krieger E, Caylan R, et al. (2007). MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am. J. Med. Genet. A 143A: 2382-2389. http://dx.doi.org/10.1002/ajmg.a.31937 PMid:17853461   Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, et al. (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J. Med. Genet. 46: 598-606. http://dx.doi.org/10.1136/jmg.2008.062950 PMid:19264732   Kobrynski LJ and Sullivan KE (2007). Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370: 1443-1452. http://dx.doi.org/10.1016/S0140-6736(07)61601-8   Myers SM and Challman TD (2004). Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. Am. J. Med. Genet. A 131: 99-100. http://dx.doi.org/10.1002/ajmg.a.30290 PMid:15384100   Neumann SA, Tingley WG, Conklin BR, Shrader CJ, et al. (2009). AKAP10 (I646V) functional polymorphism predicts heart rate and heart rate variability in apparently healthy, middle-aged European-Americans. Psychophysiology 46: 466-472. http://dx.doi.org/10.1111/j.1469-8986.2009.00802.x PMid:19496216 PMCid:2890278   Shi FD and Jia JP (2011). Neurology and neurologic practice in China. Neurology 77: 1986-1992. http://dx.doi.org/10.1212/WNL.0b013e31823a0ed3 PMid:22123780   Slager RE, Newton TL, Vlangos CN, Finucane B, et al. (2003). Mutations in RAI1 associated with Smith-Magenis syndrome. Nat. Genet. 33: 466-468. http://dx.doi.org/10.1038/ng1126 PMid:12652298   Slavotinek AM (2008). Novel microdeletion syndromes detected by chromosome microarrays. Hum. Genet. 124: 1-17. http://dx.doi.org/10.1007/s00439-008-0513-9 PMid:18512078   Smith AC, McGavran L, Waldstein G and Robinson J (1982). Deletion of the 17 short arm in two patients with facial clefts. Am. J. Hum. Genet. 34 (Suppl): 410A.   Smith AC, McGavran L, Robinson J, Waldstein G, et al. (1986). Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet. 24: 393-414. http://dx.doi.org/10.1002/ajmg.1320240303 PMid:2425619   Stratton RF, Dobyns WB, Greenberg F, DeSana JB, et al. (1986). Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am. J. Med. Genet. 24: 421-432. http://dx.doi.org/10.1002/ajmg.1320240305 PMid:3728561   Sweeney E, Peart I, Tofeig M and Kerr B (1999). Smith-Magenis syndrome and tetralogy of Fallot. J. Med. Genet. 36: 501-502. PMid:10874646 PMCid:1734392   Tan ZP, Huang C, Xu ZB, Yang JF, et al. (2011). Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. Clin. Genet. DOI 10.1111/j.1399-0004.2011.01787.x. http://dx.doi.org/10.1111/j.1399-0004.2011.01787.x   Wong JT, Chan DK, Wong KY, Tan M, et al. (2003). Smith-Magenis syndrome and cyanotic congenital heart disease: a case report. Clin. Dysmorphol. 12: 73-74. http://dx.doi.org/10.1097/00019605-200301000-00014 PMid:12514371
M. Li, Liang, J. Y., Sun, Z. H., Zhang, H., and Yao, Z. R., Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis, vol. 11, pp. 2156-2162, 2012.
Beigelman A, Levy J, Hadad N, Pinsk V, et al. (2009). Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor. Clin. Immunol. 130: 365-372. http://dx.doi.org/10.1016/j.clim.2008.09.005 PMid:18955016   Bodzioch M, Lapicka K, Aslanidis C, Kacinski M, et al. (2001). Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15. Hum. Mutat. 17: 72. http://dx.doi.org/10.1002/1098-1004(2001)17:1<72::AID-HUMU10>3.0.CO;2-X   Bonkowsky JL, Johnson J, Carey JC, Smith AG, et al. (2003). An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics 112: e237-e241. http://dx.doi.org/10.1542/peds.112.3.e237 PMid:12949319   Greco A, Villa R, Fusetti L, Orlandi R, et al. (2000). The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor. J. Cell Physiol. 182: 127-133. http://dx.doi.org/10.1002/(SICI)1097-4652(200001)182:1<127::AID-JCP14>3.0.CO;2-0   Guo YC, Liao KK, Soong BW, Tsai CP, et al. (2004). Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study. Eur. Neurol. 51: 206-214. http://dx.doi.org/10.1159/000078487 PMid:15159601   Huehne K, Zweier C, Raab K, Odent S, et al. (2008). Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. Neuromuscul. Disord. 18: 159-166. http://dx.doi.org/10.1016/j.nmd.2007.10.005 PMid:18077166   Indo Y (2001). Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Hum. Mutat. 18: 462-471. http://dx.doi.org/10.1002/humu.1224 PMid:11748840   Indo Y, Tsuruta M, Hayashida Y, Karim MA, et al. (1996). Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat. Genet. 13: 485-488. http://dx.doi.org/10.1038/ng0896-485 PMid:8696348   Indo Y, Mardy S, Miura Y, Moosa A, et al. (2001). Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. Hum. Mutat. 18: 308-318. http://dx.doi.org/10.1002/humu.1192 PMid:11668614   Kilic SS, Ozturk R, Sarisozen B, Rotthier A, et al. (2009). Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. Neurogenetics 10: 161-165. http://dx.doi.org/10.1007/s10048-008-0165-x PMid:19089473   Lee ST, Lee J, Lee M, Kim JW, et al. (2009). Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis. Muscle Nerve 40: 855-859. http://dx.doi.org/10.1002/mus.21340 PMid:19618435   Lin YP, Su YN, Weng WC and Lee WT (2010). Novel neurotrophic tyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis. J. Child. Neurol. 25: 1548-1551. http://dx.doi.org/10.1177/0883073810375464 PMid:20647579   Mardy S, Miura Y, Endo F, Matsuda I, et al. (1999). Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am. J. Hum. Genet. 64: 1570- 1579. http://dx.doi.org/10.1086/302422 PMid:10330344 PMCid:1377900   Mardy S, Miura Y, Endo F, Matsuda I, et al. (2001). Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum. Mol. Genet. 10: 179-188. http://dx.doi.org/10.1093/hmg/10.3.179 PMid:11159935   Miranda C, Di VM, Selleri S, Zanotti G, et al. (2002). Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations. J. Biol. Chem. 277: 6455-6462. http://dx.doi.org/10.1074/jbc.M110016200 PMid:11719521   Miura Y, Mardy S, Awaya Y, Nihei K, et al. (2000). Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. Hum. Genet. 106: 116-124. http://dx.doi.org/10.1007/s004390051018 PMid:10982191   Miura Y, Hiura M, Torigoe K, Numata O, et al. (2000). Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. Hum. Genet. 107: 205-209. http://dx.doi.org/10.1007/s004390000369 PMid:11071380   Rosemberg S, Marie SK and Kliemann S (1994). Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr. Neurol. 11: 50-56. http://dx.doi.org/10.1016/0887-8994(94)90091-4   Sato Y, Tsuboi Y, Kurosawa H, Sugita K, et al. (2004). Anti-apoptotic effect of nerve growth factor is lost in congenital insensitivity to pain with anhidrosis (CIPA) B lymphocytes. J. Clin. Immunol. 24: 302-308. http://dx.doi.org/10.1023/B:JOCI.0000025452.79585.a1 PMid:15114061   Shatzky S, Moses S, Levy J, Pinsk V, et al. (2000). Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli- Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Am. J. Med. Genet. 92: 353-360. http://dx.doi.org/10.1002/1096-8628(20000619)92:5<353::AID-AJMG12>3.0.CO;2-C   Suriu C, Khayat M, Weiler M, Kfir N, et al. (2009). Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. Clin. Genet. 75: 230-236. http://dx.doi.org/10.1111/j.1399-0004.2008.01143.x PMid:19250380   Swanson AG (1963). Congenital insensitivity to pain with anhidrosis. A unique syndrome in two male siblings. Arch. Neurol. 8: 299-306. http://dx.doi.org/10.1001/archneur.1963.00460030083008 PMid:13979626   Vardy PA, Greenberg LW, Kachel C and de Leon GF (1979). Congenital insensitivity to pain with anhydrosis. Report of a family and review of literature with reference to immune deficiency. Am. J. Dis. Child. 133: 1153-1155. PMid:92193
H. Liu, Huang, Y., Du, X., Chen, Z., Zeng, X., Chen, Y., and Zhang, H., Patterns of synonymous codon usage bias in the model grass Brachypodium distachyon, vol. 11, pp. 4695-4706, 2012.
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The factors shaping synonymous codon usage in the genome of Burkholderia mallei. J. Genet. Genomics 34: 362-372. http://dx.doi.org/10.1016/S1673-8527(07)60039-3

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