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Volumn 46, Issue 6, 2009, Pages 421-423

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 19Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE FUNCTION; GENE LOCUS; HUMAN; INTERSTITIAL CHROMOSOME DELETION; LETTER; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 67449133533     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.066910     Document Type: Letter
Times cited : (20)

References (17)
  • 3
    • 0032486121 scopus 로고    scopus 로고
    • Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems
    • Kulharya AS, Michaelis RC, Norris KS, Taylor HA, Garcia-Heras J. Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems. Am J Med Genet 1998;77:391-394
    • (1998) Am J Med Genet , vol.77 , pp. 391-394
    • Kulharya, A.S.1    Michaelis, R.C.2    Norris, K.S.3    Taylor, H.A.4    Garcia-Heras, J.5
  • 4
    • 0036226603 scopus 로고    scopus 로고
    • BLAT - The BLAST-like alignment tool
    • DOI 10.1101/gr.229202. Article published online before March 2002
    • Kent WJ. BLAT - the BLAST-like alignment tool. Genome Res 2002;12:656-664 (Pubitemid 34308645)
    • (2002) Genome Research , vol.12 , Issue.4 , pp. 656-664
    • Kent, W.J.1
  • 5
    • 13444306641 scopus 로고    scopus 로고
    • NCBI Reference Sequence (RefSeq): A curated non-redundant sequence database of genomes, transcripts and proteins
    • Pruitt KD, Tatusova T, Maglott DR. NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res 2005;33(Database issue):D501-4
    • (2005) Nucleic Acids Res , vol.33 , Issue.DATABASE ISSUE
    • Pruitt, K.D.1    Tatusova, T.2    Maglott, D.R.3
  • 6
    • 0018634823 scopus 로고
    • Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency
    • Arnold H. Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency. Blut 1979;39:405-417
    • (1979) Blut , vol.39 , pp. 405-417
    • Arnold, H.1
  • 7
    • 0029820018 scopus 로고    scopus 로고
    • Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia
    • Kanno H, Fujii H, Hirono A, Ishida Y, Ohga S, Fukumoto Y, Matsuzawa K, Ogawa S, Miwa S. Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. Blood 1996;88:2321-2325 (Pubitemid 26307937)
    • (1996) Blood , vol.88 , Issue.6 , pp. 2321-2325
    • Kanno, H.1    Fujii, H.2    Hirono, A.3    Ishida, Y.4    Ohga, S.5    Fukumoto, Y.6    Matsuzawa, K.7    Ogawa, S.8    Miwa, S.9
  • 8
    • 0031722646 scopus 로고    scopus 로고
    • Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency
    • DOI 10.1007/s004390050849
    • Kugler W, Breme K, Laspe P, Muirhead H, Davies C, Winkler H, Schroter W, Lakomek M. Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. Hum Genet 1998;103:450-454 (Pubitemid 28542956)
    • (1998) Human Genetics , vol.103 , Issue.4 , pp. 450-454
    • Kugler, W.1    Breme, K.2    Laspe, P.3    Muirhead, H.4    Davies, C.5    Winkler, H.6    Schroter, W.7    Lakomek, M.8
  • 9
    • 0346274978 scopus 로고    scopus 로고
    • KRAB-containing zinc-finger repressor proteins
    • DOI 10.1186/gb-2003-4-10-231
    • Urrutia R. KRAB-containing zinc-finger repressor proteins. Genome Biol 2003;4:231. (Pubitemid 37361951)
    • (2003) Genome Biology , vol.4 , Issue.10 , pp. 231
    • Urrutia, R.1
  • 10
    • 58949084539 scopus 로고    scopus 로고
    • Adaptive evolution in zinc finger transcription factors
    • Epub 2009 Jan 2.
    • Emerson RO, Thomas JH. Adaptive evolution in zinc finger transcription factors. PLoS Genet 2009;5:e1000325. Epub 2009 Jan 2.
    • (2009) PLoS Genet , vol.5
    • Emerson, R.O.1    Thomas, J.H.2
  • 14
    • 59649112824 scopus 로고    scopus 로고
    • RAP55: Insights into an evolutionarily conserved protein family
    • E pub 2008 Aug 3.
    • Marnef A, Sommerville J, Ladomery. RAP55: insights into an evolutionarily conserved protein family. Int J Biochem Cell Biol E pub 2008 Aug 3.
    • Int J Biochem Cell Biol
    • Marnef, A.1    Sommerville, J.2    Ladomery3
  • 15
    • 33645465546 scopus 로고    scopus 로고
    • RNA-associated protein 55 (RAP55) localizes to mRNA processing bodies and stress granules
    • Yang WH, Yu JH, Gulick T, Bloch KD, Bloch DB. RNA-associated protein 55 (RAP55) localizes to mRNA processing bodies and stress granules. RNA 2006;12:547-554
    • (2006) RNA , vol.12 , pp. 547-554
    • Yang, W.H.1    Yu, J.H.2    Gulick, T.3    Bloch, K.D.4    Bloch, D.B.5
  • 16
    • 14844291338 scopus 로고    scopus 로고
    • Structures of the SUMO E1 provide mechanistic insights into SUMO activation and E2 recruitment to E1
    • DOI 10.1038/sj.emboj.7600552
    • Lois LM, Lima CD. Structures of the SUMO E1 provide mechanistic insights into SUMO activation and E2 recruitment to E1. EMBO J 2005;24:439-451 (Pubitemid 40343247)
    • (2005) EMBO Journal , vol.24 , Issue.3 , pp. 439-451
    • Lois, L.M.1    Lima, C.D.2
  • 17
    • 33747795350 scopus 로고    scopus 로고
    • A general approach for investigating enzymatic pathways and substrates for ubiquitin-like modifiers
    • DOI 10.1016/j.abb.2006.03.002, PII S0003986106000944, Macromolecular Interactions
    • Li T, Santockyte R, Shen RF, Tekle E, Wang G, Yang DC, Chock PB. A general approach for investigating enzymatic pathways and substrates for ubiquitin-like modifiers. Arch Biochem Biophys 2006;453:70-74 (Pubitemid 44278758)
    • (2006) Archives of Biochemistry and Biophysics , vol.453 , Issue.1 , pp. 68-72
    • Li, T.1    Santockyte, R.2    Shen, R.-F.3    Tekle, E.4    Wang, G.5    Yang, D.C.H.6    Chock, P.B.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.