SCOPUS 정보 검색 플랫폼

Volumn 19, Issue 1, 2011, Pages 121-

Clinical utility gene card for: Holoprosencephaly

(8) Dubourg, Christèle a David, Véronique a Gropman, Andrea b Mercier, Sandra a Muenke, Maximilian c Odent, Sylvie a Pineda Alvarez, Daniel E c Roessler, Erich c

a RENNES UNIVERSITY HOSPITAL (France)

b CHILDREN'S NATIONAL MEDICAL CENTER (United States)

c NATIONAL HUMAN GENOME RESEARCH INSTITUTE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; EYE PROTEIN; HOMEODOMAIN PROTEIN; NERVE PROTEIN; NUCLEAR PROTEIN; SHH PROTEIN, HUMAN; SINE OCULIS HOMEOBOX HOMOLOG 3 PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR; ZIC2 PROTEIN, HUMAN;

ANALYTIC METHOD; BRAIN MALFORMATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DENATURATION; ETHNIC GROUP; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE REARRANGEMENT; GENE SEQUENCE; HETEROZYGOTE; HOLOPROSENCEPHALY; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PREDICTION AND FORECASTING; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; STATISTICAL ANALYSIS; ARTICLE; GENETICS; PREDICTIVE VALUE;

EYE PROTEINS; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POINT MUTATION; PREDICTIVE VALUE OF TESTS; SENSITIVITY AND SPECIFICITY; TRANSCRIPTION FACTORS;

EID: 78650058858 PISSN: 10184813 EISSN: 14765438 Source Type: Journal
DOI: 10.1038/ejhg.2010.110 Document Type: Note

Times cited : (12)

References (6)

1
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- Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
- Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M: Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Sem Med Genet 2010; 154C: 93-101.
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- Pineda-Alvarez, D.E.¹ Dubourg, C.² David, V.³ Roessler, E.⁴ Muenke, M.⁵

2
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- Epidemiology of holoprosencephaly: Prevalence and risk factors
- Orioli IM, Castilla EE: Epidemiology of holoprosencephaly: prevalence and risk factors. Am J Med Genet C Sem Med Genet 2010; 154C: 13-21.
- (2010) Am J Med Genet C Sem Med Genet , vol.154 C , pp. 13-21
- Orioli, I.M.¹ Castilla, E.E.²

3
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- Analysis of genotype-phenotype correlations in human holoprosencephaly
- Solomon BD, Mercier S, Vélez JI et al: Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Sem Med Genet 2010; 154C: 133-141.
- (2010) Am J Med Genet C Sem Med Genet , vol.154 C , pp. 133-141
- Solomon, B.D.¹ Mercier, S.² Vélez, J.I.³

4
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- Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation
- Hahn JS, Barnes PD: Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Sem Med Genet 2010; 154C: 120-132.
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- Hahn, J.S.¹ Barnes, P.D.²

5
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- Genetic counseling and 'molecular' prenatal diagnosis of holoprosencephaly (HPE)
- Mercier S, Dubourg C, Belleguic M et al: Genetic counseling and 'molecular' prenatal diagnosis of holoprosencephaly (HPE). Am J Med Genet C Sem Med Genet 2010; 154C: 191-196.
- (2010) Am J Med Genet C Sem Med Genet , vol.154 C , pp. 191-196
- Mercier, S.¹ Dubourg, C.² Belleguic, M.³

6
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- Management of children with holopro-sencephaly
- Levey EB, Stashinko E, Clegg NJ, Delgado MR: Management of children with holopro-sencephaly. Am J Med Genet C Sem Med Genet 2010; 154C: 183-190.
- (2010) Am J Med Genet C Sem Med Genet , vol.154 C , pp. 183-190
- Levey, E.B.¹ Stashinko, E.² Clegg, N.J.³ Delgado, M.R.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.