메뉴 건너뛰기




Volumn 130 A, Issue 2, 2004, Pages 200-203

Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)

Author keywords

Chromosomal translocation; Chromosome 12; Chromosome 3; Congenital arhinia

Indexed keywords

AIRWAY OBSTRUCTION; ARTICLE; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 3; CONGENITAL ARHINIA; FACIAL BONE; FEMALE; GENE LOCATION; HIGH ARCHED PALATE; HUMAN; HYPERTELORISM; HYPOPLASIA; MASTOID; MICROPHTHALMIA; MICROTIA; NEWBORN; NOSE MALFORMATION; OLFACTORY BULB; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION;

EID: 4644364425     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30268     Document Type: Article
Times cited : (28)

References (18)
  • 2
    • 0034754798 scopus 로고    scopus 로고
    • Several nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice
    • Beverdam A, Brouwer A, Reijnen M, Korving J, Meijlink F. 2001. Several nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice. Development 128:3975-3986.
    • (2001) Development , vol.128 , pp. 3975-3986
    • Beverdam, A.1    Brouwer, A.2    Reijnen, M.3    Korving, J.4    Meijlink, F.5
  • 3
  • 5
    • 0027366186 scopus 로고
    • Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1
    • Dixon MJ, Dixon J, Houseal T, Bhatt M, Ward DC, Klinger K, Landes GM. 1993. Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am J Hum Genet 52:907-914.
    • (1993) Am J Hum Genet , vol.52 , pp. 907-914
    • Dixon, M.J.1    Dixon, J.2    Houseal, T.3    Bhatt, M.4    Ward, D.C.5    Klinger, K.6    Landes, G.M.7
  • 6
    • 0036307107 scopus 로고    scopus 로고
    • EGF signaling regulates expression of Tbx2, Erm, Pea3, and Pax3 in the early nasal region
    • Firnberg N, Neubuser A. 2002. EGF signaling regulates expression of Tbx2, Erm, Pea3, and Pax3 in the early nasal region. Dev Biol 247:237-250.
    • (2002) Dev Biol , vol.247 , pp. 237-250
    • Firnberg, N.1    Neubuser, A.2
  • 9
    • 0022227077 scopus 로고
    • Brief clinical report: Mosaic trisomy 9 syndrome with unusual phenotype
    • Kaminker CP, Daín L, Lamas MA, Sánchez JM. 1985. Brief clinical report: Mosaic trisomy 9 syndrome with unusual phenotype. Am J Med Genet 22:237-241.
    • (1985) Am J Med Genet , vol.22 , pp. 237-241
    • Kaminker, C.P.1    Daín, L.2    Lamas, M.A.3    Sánchez, J.M.4
  • 10
    • 0031032339 scopus 로고    scopus 로고
    • Total external and internal construction in arhinia
    • Meyer R. 1997. Total external and internal construction in arhinia. Plast Reconstr Surg 99:534-542.
    • (1997) Plast Reconstr Surg , vol.99 , pp. 534-542
    • Meyer, R.1
  • 11
    • 33646217122 scopus 로고
    • Embryological study of nasal cavity development in human embryos with reference to congenital nostril atresia
    • Basel
    • Nishimura Y. 1993. Embryological study of nasal cavity development in human embryos with reference to congenital nostril atresia. Acta Anat (Basel) 46:467-470.
    • (1993) Acta Anat , vol.46 , pp. 467-470
    • Nishimura, Y.1
  • 12
    • 0034754081 scopus 로고    scopus 로고
    • Evidence for gradients of gene expression correlating with zonal topography of the olfactory sensory map
    • Norlin EM, Alenius M, Gussing F, Hagglund M, Vedin V, Bohm S. 2001. Evidence for gradients of gene expression correlating with zonal topography of the olfactory sensory map. Mol Cell Neurosci 18:283-295.
    • (2001) Mol Cell Neurosci , vol.18 , pp. 283-295
    • Norlin, E.M.1    Alenius, M.2    Gussing, F.3    Hagglund, M.4    Vedin, V.5    Bohm, S.6
  • 13
    • 0035064210 scopus 로고    scopus 로고
    • Congenital absence of the nose: A case report and literature review
    • Olsen ØE, Gjelland K, Reigstad H, Rosendahl K. 2001. Congenital absence of the nose: A case report and literature review. Pediatr Radiol 31:225-232.
    • (2001) Pediatr Radiol , vol.31 , pp. 225-232
    • Olsen, Ø.1    Gjelland, K.2    Reigstad, H.3    Rosendahl, K.4
  • 14
    • 0344562953 scopus 로고    scopus 로고
    • Goosecoid acts autonomously in mesenchyme-derived tissues during craniofacial development
    • Rivera-Pérez JA, Wakamiya M, Behringer RR. 1999. Goosecoid acts autonomously in mesenchyme-derived tissues during craniofacial development. Development 126:3811-3821.
    • (1999) Development , vol.126 , pp. 3811-3821
    • Rivera-Pérez, J.A.1    Wakamiya, M.2    Behringer, R.R.3
  • 15
    • 0017966999 scopus 로고
    • Familiaeire Arhinie mit Petersscher Anomalie und Kiefermissbildungen, ein neues Fehlbildungssyndrom?
    • Ruprecht KW, Majewski F. 1978. Familiaeire Arhinie mit Petersscher Anomalie und Kiefermissbildungen, ein neues Fehlbildungssyndrom? Klin Monatsbl Augenheilk 172:708-715.
    • (1978) Klin Monatsbl Augenheilk , vol.172 , pp. 708-715
    • Ruprecht, K.W.1    Majewski, F.2
  • 17
    • 0030004923 scopus 로고    scopus 로고
    • Familial arhinia, choanal atresia, and microphthalmia
    • Thiele H, Musil A, Nagel F, Majewski F. 1996. Familial arhinia, choanal atresia, and microphthalmia. Am J Med Genet 63:310-313.
    • (1996) Am J Med Genet , vol.63 , pp. 310-313
    • Thiele, H.1    Musil, A.2    Nagel, F.3    Majewski, F.4
  • 18
    • 0027538520 scopus 로고
    • A rare case of arhinia with severe airway obstruction: Case report and review of the literature
    • Weinberg A, Neuman A, Benmeir P, Lusthaus S, Wexler MR. 1993. A rare case of arhinia with severe airway obstruction: Case report and review of the literature. Plast Reconstr Surg 91:146-149.
    • (1993) Plast Reconstr Surg , vol.91 , pp. 146-149
    • Weinberg, A.1    Neuman, A.2    Benmeir, P.3    Lusthaus, S.4    Wexler, M.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.