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American Journal of Medical Genetics, Part A
Volumn 146, Issue 16, 2008, Pages 2169-2171
Genital anomalies in a patient with treacher collins syndrome
Author keywords

[No Author keywords available]
Indexed keywords

ANAMNESIS; AUTOPSY; CASE REPORT; DEATH; FACE MALFORMATION; GENE DELETION; GENETIC ANALYSIS; GENITAL MALFORMATION; HUMAN; LETTER; MALE; MALE PSEUDOHERMAPHRODITISM; MANDIBULOFACIAL DYSOSTOSIS; MICROPENIS; MICROTIA; NEWBORN; PRIORITY JOURNAL; UROGENITAL SINUS; UTERINE TUBE; UTERUS BICORNIS;
EID: 49449093942     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32404     Document Type: Letter
Times cited : (5)
References (11)
  • 1
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    • Dixon J, Hovanes K, Shiang R, Dixon MJ. 1997. Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum Mol Genet 6:727-737.
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    • Dixon, J.1    Hovanes, K.2    Shiang, R.3    Dixon, M.J.4
  • 2
    • 0034641134 scopus 로고    scopus 로고
    • Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome
    • Dixon J, Brakebusch C, Fässler R, Dixon MJ. 2000. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum Mol Genet 9:1473-1480.
    • (2000) Hum Mol Genet , vol.9 , pp. 1473-1480
    • Dixon, J.1    Brakebusch, C.2    Fässler, R.3    Dixon, M.J.4
  • 3
    • 33748614339 scopus 로고    scopus 로고
    • Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities
    • Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA. 2006. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci 103:13403-13408.
    • (2006) Proc Natl Acad Sci , vol.103 , pp. 13403-13408
    • Dixon, J.1    Jones, N.C.2    Sandell, L.L.3    Jayasinghe, S.M.4    Crane, J.5    Rey, J.P.6    Dixon, M.J.7    Trainor, P.A.8
  • 4
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    • The eye
    • Wigglesworth JS, Singer DB, editors, 2nd edition. Oxford: Blackwell Science
    • Garner A. 1998. The eye. In: Wigglesworth JS, Singer DB, editors. Textbook of fetal and perinatal pathology. 2nd edition. Oxford: Blackwell Science.
    • (1998) Textbook of fetal and perinatal pathology
    • Garner, A.1
  • 5
    • 0029794933 scopus 로고    scopus 로고
    • Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene
    • Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, Dixon MJ. 1996. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet 5:1533-1538.
    • (1996) Hum Mol Genet , vol.5 , pp. 1533-1538
    • Gladwin, A.J.1    Dixon, J.2    Loftus, S.K.3    Edwards, S.4    Wasmuth, J.J.5    Hennekam, R.C.6    Dixon, M.J.7
  • 7
    • 0030069566 scopus 로고    scopus 로고
    • Treacher Collins syndrome: Phenotypic variability in a family including an infant with arhinia and uveal colobomas
    • Hansen M, Lucarelli MJ, Whiteman DA, Mulliken JB. 1996. Treacher Collins syndrome: Phenotypic variability in a family including an infant with arhinia and uveal colobomas. Am J Med Genet 61:71-74.
    • (1996) Am J Med Genet , vol.61 , pp. 71-74
    • Hansen, M.1    Lucarelli, M.J.2    Whiteman, D.A.3    Mulliken, J.B.4
  • 8
    • 0036844229 scopus 로고    scopus 로고
    • Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
    • Ming JE, Muenke M. 2002. Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly. Am J Hum Genet 71:1017-1032.
    • (2002) Am J Hum Genet , vol.71 , pp. 1017-1032
    • Ming, J.E.1    Muenke, M.2
  • 9
    • 0025865581 scopus 로고
    • Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: Variant or new syndrome?
    • Robb LJ, Fraser FC, Der Kaloustian VM. 1991. Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: Variant or new syndrome? Am J Med Genet 39:119-120.
    • (1991) Am J Med Genet , vol.39 , pp. 119-120
    • Robb, L.J.1    Fraser, F.C.2    Der Kaloustian, V.M.3
  • 10
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    • TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature
    • Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR. 2005. TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat 25:429-434.
    • (2005) Hum Mutat , vol.25 , pp. 429-434
    • Splendore, A.1    Fanganiello, R.D.2    Masotti, C.3    Morganti, L.S.4    Passos-Bueno, M.R.5
  • 11
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    • Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
    • Treacher Collins Syndrome Collaborative Group
    • Treacher Collins Syndrome Collaborative Group. 1996. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136.
    • (1996) Nat Genet , vol.12 , pp. 130-136

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.