메뉴 건너뛰기




Volumn 91, Issue SUPPL. 4, 2009, Pages 81-86

Genetics of radial deficiencies

Author keywords

[No Author keywords available]

Indexed keywords

ANUS ATRESIA; CONFERENCE PAPER; CONGENITAL HEART MALFORMATION; ESOPHAGUS ATRESIA; FANCONI ANEMIA; GENETICS; HOLT ORAM SYNDROME; HUMAN; LIMB MALFORMATION; MALFORMATION SYNDROME; PRIORITY JOURNAL; RADIAL DEFICIENCY; RADIUS MALFORMATION; THROMBOCYTOPENIA ABSENT RADIUS SYNDROME; TRACHEOESOPHAGEAL FISTULA; VERTEBRA MALFORMATION; ARM MALFORMATION; ARTICLE; CONGENITAL MALFORMATION; RADIUS; SYNDROME;

EID: 67651153146     PISSN: 00219355     EISSN: None     Source Type: Journal    
DOI: 10.2106/JBJS.I.00073     Document Type: Conference Paper
Times cited : (15)

References (59)
  • 2
    • 33747884104 scopus 로고    scopus 로고
    • Radial longitudinal deficiency: The incidence of associated medical and musculoskeletal conditions
    • Am
    • Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions. J Hand Surg [Am]. 2006;31:1176-82.
    • (2006) J Hand Surg , vol.31 , pp. 1176-1182
    • Goldfarb, C.A.1    Wall, L.2    Manske, P.R.3
  • 4
    • 73549113995 scopus 로고    scopus 로고
    • 274000. CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 274000. CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm. nih.gov/entrez/dispomim.cgi?id=274000. Accessed 2009 Feb 24.
  • 6
    • 0023158893 scopus 로고
    • Thrombocytopenia and absent radius (TAR) syndrome
    • Hall JG. Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet. 1987;24:79-83.
    • (1987) J Med Genet , vol.24 , pp. 79-83
    • Hall, J.G.1
  • 8
    • 73549086501 scopus 로고    scopus 로고
    • 192350. VATER ASSOCIATION. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 192350. VATER ASSOCIATION. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi? id=192350. Accessed 2009 Feb 24.
  • 9
    • 0020623203 scopus 로고
    • A population study of the VACTERL association: Evidence for its etiologic heterogeneity
    • Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. 1983;71:815-20.
    • (1983) Pediatrics , vol.71 , pp. 815-820
    • Khoury, M.J.1    Cordero, J.F.2    Greenberg, F.3    James, L.M.4    Erickson, J.D.5
  • 10
    • 73549086729 scopus 로고    scopus 로고
    • 314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314390. Accessed 2009 Feb 24.
  • 11
    • 33749252180 scopus 로고    scopus 로고
    • Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
    • Holden ST, Cox JJ, Kesterton I, Thomas NS, Carr C, Woods CG. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J Med Genet. 2006;43:750-4.
    • (2006) J Med Genet , vol.43 , pp. 750-754
    • Holden, S.T.1    Cox, J.J.2    Kesterton, I.3    Thomas, N.S.4    Carr, C.5    Woods, C.G.6
  • 13
    • 0031576223 scopus 로고    scopus 로고
    • Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association
    • Stone DL, Biesecker LG. Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. Am J Med Genet. 1997;72:237-8.
    • (1997) Am J Med Genet , vol.72 , pp. 237-238
    • Stone, D.L.1    Biesecker, L.G.2
  • 14
    • 41449108846 scopus 로고    scopus 로고
    • VACTERL association and maternal diabetes: A possible causal relationship? Birth Defects Res A Clin Mol
    • Castori M, Rinaldi R, Capocaccia P, Roggini M, Grammatico P. VACTERL association and maternal diabetes: a possible causal relationship? Birth Defects Res A Clin Mol Teratol. 2008;82:169-72.
    • (2008) Teratol , vol.82 , pp. 169-172
    • Castori, M.1    Rinaldi, R.2    Capocaccia, P.3    Roggini, M.4    Grammatico, P.5
  • 15
    • 0028905946 scopus 로고
    • Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human
    • Mbikay M, Seidah NG, Chrétien M, Simpson EM. Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human. Genomics. 1995;26:123-9.
    • (1995) Genomics , vol.26 , pp. 123-129
    • Mbikay, M.1    Seidah, N.G.2    Chrétien, M.3    Simpson, E.M.4
  • 17
    • 0035025182 scopus 로고    scopus 로고
    • The VACTERL association: Lessons from the Sonic hedgehog pathway
    • Kim J, Kim P, Hui CC. The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet. 2001;59:306-15.
    • (2001) Clin Genet , vol.59 , pp. 306-315
    • Kim, J.1    Kim, P.2    Hui, C.C.3
  • 18
    • 73549098155 scopus 로고    scopus 로고
    • 142945 HOLOPROSENCEPHALY3.3; HPE 3. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 142945 HOLOPROSENCEPHALY3.3; HPE 3. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=142945. Accessed 2009 Feb 24.
  • 21
    • 73549094903 scopus 로고    scopus 로고
    • 146510 PALLISTER-HALL SYNDROME; PHS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 146510 PALLISTER-HALL SYNDROME; PHS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=146510. Accessed 2009 Feb 24.
  • 22
    • 73549116989 scopus 로고    scopus 로고
    • 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm. nih.gov/entrez/dispomim.cgi?id=175700. Accessed 2009 Feb 24.
  • 23
    • 20144387269 scopus 로고    scopus 로고
    • Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005;76:609-22.
    • Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005;76:609-22.
  • 24
    • 0001466654 scopus 로고    scopus 로고
    • GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization
    • Shin SH, Kogerman P, Lindström E, Toftgárd R, Biesecker LG. GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc Natl Acad Sci U S A. 1999;96:2880-4.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 2880-2884
    • Shin, S.H.1    Kogerman, P.2    Lindström, E.3    Toftgárd, R.4    Biesecker, L.G.5
  • 25
    • 17144429420 scopus 로고    scopus 로고
    • Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins
    • Edison RJ, Muenke M. Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A. 2004;131:287-98.
    • (2004) Am J Med Genet A , vol.131 , pp. 287-298
    • Edison, R.J.1    Muenke, M.2
  • 26
    • 0029939211 scopus 로고    scopus 로고
    • A new rodent experimental model of esophageal atresia and tracheoesophageal fistula: Preliminary report
    • Diez-Pardo JA, Baoquan Q, Navarro C, Tovar JA. A new rodent experimental model of esophageal atresia and tracheoesophageal fistula: preliminary report. J Pediatr Surg. 1996;31:498-502.
    • (1996) J Pediatr Surg , vol.31 , pp. 498-502
    • Diez-Pardo, J.A.1    Baoquan, Q.2    Navarro, C.3    Tovar, J.A.4
  • 27
    • 73549097267 scopus 로고    scopus 로고
    • 142900 HOLT-ORAM SYNDROME; HOS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 142900 HOLT-ORAM SYNDROME; HOS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=142900. Accessed 2009 Feb 24.
  • 29
    • 0030636780 scopus 로고    scopus 로고
    • Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15:30-5. Erratum in: Nat Genet. 1997;15:411.
    • Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15:30-5. Erratum in: Nat Genet. 1997;15:411.
  • 35
    • 73549116715 scopus 로고    scopus 로고
    • 607323 DUANE-RADIAL RAY SYNDROME; DRRS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 607323 DUANE-RADIAL RAY SYNDROME; DRRS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=607323. Accessed 2009 Feb 24.
  • 36
    • 0022227078 scopus 로고
    • The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness
    • Hayes A, Costa T, Polomeno RC. The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. Am J Med Genet. 1985;22:273-80.
    • (1985) Am J Med Genet , vol.22 , pp. 273-280
    • Hayes, A.1    Costa, T.2    Polomeno, R.C.3
  • 40
    • 73549109380 scopus 로고    scopus 로고
    • 107480 TOWNES-BROCKS SYNDROME; TBS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 107480 TOWNES-BROCKS SYNDROME; TBS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=107480. Accessed 2009 Feb 24.
  • 42
    • 0031963876 scopus 로고    scopus 로고
    • Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
    • Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 1998;18:81-3.
    • (1998) Nat Genet , vol.18 , pp. 81-83
    • Kohlhase, J.1    Wischermann, A.2    Reichenbach, H.3    Froster, U.4    Engel, W.5
  • 43
    • 73549095737 scopus 로고    scopus 로고
    • 227650 FANCONI ANEMIA; FA. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 227650 FANCONI ANEMIA; FA. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi? id=227650. Accessed 2009 Feb 24.
  • 44
    • 0027298257 scopus 로고
    • The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry
    • Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics. 1993;91:1116-20.
    • (1993) Pediatrics , vol.91 , pp. 1116-1120
    • Giampietro, P.F.1    Adler-Brecher, B.2    Verlander, P.C.3    Pavlakis, S.G.4    Davis, J.G.5    Auerbach, A.D.6
  • 45
    • 29144506137 scopus 로고    scopus 로고
    • The Fanconi Anemia/BRCA pathway: New faces in the crowd
    • Kennedy RD, D'Andrea AD. The Fanconi Anemia/BRCA pathway: new faces in the crowd. Genes Dev. 2005;19:2925-40.
    • (2005) Genes Dev , vol.19 , pp. 2925-2940
    • Kennedy, R.D.1    D'Andrea, A.D.2
  • 48
    • 0042921156 scopus 로고    scopus 로고
    • Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia
    • Wong JC, Alon N, Mckerlie C, Huang JR, Meyn MS, Buchwald M. Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet. 2003;12:2063-76.
    • (2003) Hum Mol Genet , vol.12 , pp. 2063-2076
    • Wong, J.C.1    Alon, N.2    Mckerlie, C.3    Huang, J.R.4    Meyn, M.S.5    Buchwald, M.6
  • 49
    • 53049109167 scopus 로고    scopus 로고
    • Ionizing radiation-induced gene modulations, cytokine content changes and telomere shortening in mouse fetuses exhibiting forelimb defects
    • Derradji H, Bekaert S, De Meyer T, Jacquet P, Abou-El-Ardat K, Ghardi M, Arlette M, Baatout S. Ionizing radiation-induced gene modulations, cytokine content changes and telomere shortening in mouse fetuses exhibiting forelimb defects. Dev Biol. 2008;322:302-13.
    • (2008) Dev Biol , vol.322 , pp. 302-313
    • Derradji, H.1    Bekaert, S.2    De Meyer, T.3    Jacquet, P.4    Abou-El-Ardat, K.5    Ghardi, M.6    Arlette, M.7    Baatout, S.8
  • 50
    • 73549114617 scopus 로고    scopus 로고
    • 268400 ROTHMUND-THOMSON SYNDROME; RTS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 268400 ROTHMUND-THOMSON SYNDROME; RTS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=268400. Accessed 2009 Feb 24.
  • 51
    • 73549091906 scopus 로고    scopus 로고
    • 266280 RAPADILINO SYNDROME. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 266280 RAPADILINO SYNDROME. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/dispomim. cgi?id=266280. Accessed 2009 Feb 24.
  • 52
    • 73549115066 scopus 로고    scopus 로고
    • 218600 BALLER-GEROLD SYNDROME; BGS. In: Online Mendelian inheritance in man, OMIM TM, Johns Hopkins University, 2009 Feb 24
    • 218600 BALLER-GEROLD SYNDROME; BGS. In: Online Mendelian inheritance in man, OMIM (TM). Johns Hopkins University. http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=218600. Accessed 2009 Feb 24.
  • 56
    • 49749148494 scopus 로고    scopus 로고
    • RecQ family helicases in genome stability: Lessons from gene disruption studies in DT40 cells
    • Seki M, Otsuki M, Ishii Y, Tada S, Enomoto T. RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells. Cell Cycle. 2008;7:2472-8.
    • (2008) Cell Cycle , vol.7 , pp. 2472-2478
    • Seki, M.1    Otsuki, M.2    Ishii, Y.3    Tada, S.4    Enomoto, T.5
  • 59
    • 14844341770 scopus 로고    scopus 로고
    • Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb
    • Sagai T, Hosoya M, Mizushina Y, Tamura M, Shiroishi T. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Development. 2005;132:797-803.
    • (2005) Development , vol.132 , pp. 797-803
    • Sagai, T.1    Hosoya, M.2    Mizushina, Y.3    Tamura, M.4    Shiroishi, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.