메뉴 건너뛰기




Volumn 155, Issue 11, 2011, Pages 2713-2720

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum

Author keywords

Coloboma; FGF8; Holoprosencephaly; Microcornea; Microphthalmia; Ocular; SHH; SIX3; Strabismus; ZIC2

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COLOBOMA; CONTROLLED STUDY; CORNEA DISEASE; DIVERGENT STRABISMUS; DNA SEQUENCE; EYE MALFORMATION; FEMALE; FGF8 GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HOLOPROSENCEPHALY; HUMAN; MALE; MICROPHTHALMIA; MOLECULAR PATHOLOGY; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; REFRACTION ERROR; SCHOOL CHILD; SIX3 GENE; SONIC HEDGEHOG GENE; TERATOLOGY; ZIC2 GENE;

EID: 80054952379     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34261     Document Type: Article
Times cited : (38)

References (38)
  • 1
    • 78649513377 scopus 로고    scopus 로고
    • A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans
    • Arauz RF, Solomon BD, Pineda-Alvarez DE, Gropman AL, Parsons JA, Roessler E, Muenke M. 2010. A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans. Mol Syndromol 1:59-66.
    • (2010) Mol Syndromol , vol.1 , pp. 59-66
    • Arauz, R.F.1    Solomon, B.D.2    Pineda-Alvarez, D.E.3    Gropman, A.L.4    Parsons, J.A.5    Roessler, E.6    Muenke, M.7
  • 5
    • 84883840171 scopus 로고
    • The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly)
    • Demyer W, Zeman W, Palmer CG. 1964. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256-263.
    • (1964) Pediatrics , vol.34 , pp. 256-263
    • Demyer, W.1    Zeman, W.2    Palmer, C.G.3
  • 7
    • 33846100981 scopus 로고    scopus 로고
    • A dynamic fate map of the forebrain shows how vertebrate eyes form and explains two causes of cyclopia
    • England SJ, Blanchard GB, Mahadevan L, Adams RJ. 2006. A dynamic fate map of the forebrain shows how vertebrate eyes form and explains two causes of cyclopia. Development 133:4613-4617.
    • (2006) Development , vol.133 , pp. 4613-4617
    • England, S.J.1    Blanchard, G.B.2    Mahadevan, L.3    Adams, R.J.4
  • 10
    • 33847650440 scopus 로고    scopus 로고
    • Congenital malformations of the eye and orbit
    • vii.
    • Guercio JR, Martyn LJ. 2007. Congenital malformations of the eye and orbit. Otolaryngol Clin North Am 40:113-140, vii.
    • (2007) Otolaryngol Clin North Am , vol.40 , pp. 113-140
    • Guercio, J.R.1    Martyn, L.J.2
  • 12
    • 76149133123 scopus 로고    scopus 로고
    • Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation
    • Hahn JS, Barnes PD. 2010. Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Am J Med Genet Part C 154C:120-132.
    • (2010) Am J Med Genet Part C , vol.154 C , pp. 120-132
    • Hahn, J.S.1    Barnes, P.D.2
  • 13
    • 4043180520 scopus 로고    scopus 로고
    • Evaluation and management of children with holoprosencephaly
    • Hahn JS, Plawner LL. 2004. Evaluation and management of children with holoprosencephaly. Pediatr Neurol 31:79-88.
    • (2004) Pediatr Neurol , vol.31 , pp. 79-88
    • Hahn, J.S.1    Plawner, L.L.2
  • 14
    • 77958579758 scopus 로고    scopus 로고
    • Septopreoptic holoprosencephaly: A mild subtype associated with midline craniofacial anomalies
    • Hahn JS, Barnes PD, Clegg NJ, Stashinko EE. 2010. Septopreoptic holoprosencephaly: A mild subtype associated with midline craniofacial anomalies. AJNR Am J Neuroradiol 31:1596-1601.
    • (2010) AJNR Am J Neuroradiol , vol.31 , pp. 1596-1601
    • Hahn, J.S.1    Barnes, P.D.2    Clegg, N.J.3    Stashinko, E.E.4
  • 15
    • 77951704064 scopus 로고    scopus 로고
    • Coordinated regulation of dorsal bone morphogenetic protein 4 and ventral Sonic hedgehog signaling specifies the dorso-ventral polarity in the optic vesicle and governs ocular morphogenesis through fibroblast growth factor 8 upregulation
    • Kobayashi T, Yasuda K, Araki M. 2010. Coordinated regulation of dorsal bone morphogenetic protein 4 and ventral Sonic hedgehog signaling specifies the dorso-ventral polarity in the optic vesicle and governs ocular morphogenesis through fibroblast growth factor 8 upregulation. Dev Growth Differ 52:351-363.
    • (2010) Dev Growth Differ , vol.52 , pp. 351-363
    • Kobayashi, T.1    Yasuda, K.2    Araki, M.3
  • 19
    • 0017741766 scopus 로고
    • Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases
    • Matsunaga E, Shiota K. 1977. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 16:261-272.
    • (1977) Teratology , vol.16 , pp. 261-272
    • Matsunaga, E.1    Shiota, K.2
  • 21
    • 84874132670 scopus 로고    scopus 로고
    • Disorders of eye movement and alignment.
    • Kliegman RM, editor., 18th edition. Philadelphia, PA: Sauders Elsevier; chap 622.
    • Olisky SE, Hug D, Smith LP. 2007. Disorders of eye movement and alignment. In: Kliegman RM, editor. Nelson textbook of pediatrics, 18th edition. Philadelphia, PA: Sauders Elsevier; chap 622.
    • (2007) Nelson textbook of pediatrics
    • Olisky, S.E.1    Hug, D.2    Smith, L.P.3
  • 22
    • 37249011845 scopus 로고    scopus 로고
    • Clinical epidemiologic study of holoprosencephaly in South America
    • Orioli IM, Castilla EE. 2007. Clinical epidemiologic study of holoprosencephaly in South America. Am J Med Genet Part A 143A:3088-3099.
    • (2007) Am J Med Genet Part A , vol.143 A , pp. 3088-3099
    • Orioli, I.M.1    Castilla, E.E.2
  • 23
    • 67349261290 scopus 로고    scopus 로고
    • Shh dependent and independent maintenance of basal midbrain
    • Perez-Balaguer A, Puelles E, Wurst W, Martinez S. 2009. Shh dependent and independent maintenance of basal midbrain. Mech Dev 126:301-313.
    • (2009) Mech Dev , vol.126 , pp. 301-313
    • Perez-Balaguer, A.1    Puelles, E.2    Wurst, W.3    Martinez, S.4
  • 24
    • 76149134371 scopus 로고    scopus 로고
    • Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
    • Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M. 2010. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet Part C 154C:93-101.
    • (2010) Am J Med Genet Part C , vol.154 C , pp. 93-101
    • Pineda-Alvarez, D.E.1    Dubourg, C.2    David, V.3    Roessler, E.4    Muenke, M.5
  • 25
    • 77954129042 scopus 로고    scopus 로고
    • Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients
    • Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CP, Richieri-Costa A. 2010. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients. Am J Med Genet Part A 152A:1688-1694.
    • (2010) Am J Med Genet Part A , vol.152 A , pp. 1688-1694
    • Ribeiro, L.A.1    Quiezi, R.G.2    Nascimento, A.3    Bertolacini, C.P.4    Richieri-Costa, A.5
  • 26
    • 76149133124 scopus 로고    scopus 로고
    • The molecular genetics of holoprosencephaly
    • Roessler E, Muenke M. 2010. The molecular genetics of holoprosencephaly. Am J Med Genet Part C 154C:52-61.
    • (2010) Am J Med Genet Part C , vol.154 C , pp. 52-61
    • Roessler, E.1    Muenke, M.2
  • 32
    • 15744391670 scopus 로고    scopus 로고
    • White-to-white corneal diameter: Normal values in healthy humans obtained with the Orbscan II topography system
    • Rufer F, Schroder A, Erb C. 2005. White-to-white corneal diameter: Normal values in healthy humans obtained with the Orbscan II topography system. Cornea 24:259-261.
    • (2005) Cornea , vol.24 , pp. 259-261
    • Rufer, F.1    Schroder, A.2    Erb, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.