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Volumn 22, Issue 6, 2010, Pages 687-695

Holoprosencephaly: Recommendations for diagnosis and management

Author keywords

cyclopia; holoprosencephaly; HPE; midline cleft syndrome; Sonic Hedgehog

Indexed keywords

ALCOHOL; ANTACID AGENT; ANTICONVULSIVE AGENT; BACLOFEN; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BOTULINUM TOXIN A; CYCLOPAMINE; DESMOPRESSIN ACETATE; ESTRADIOL; INFLUENZA VACCINE; IPRIFLAVONE; MACROGOL 3350; MELATONIN; OCHRATOXIN; PNEUMOCOCCUS VACCINE; PROKINETIC AGENT; RETINOIC ACID; SONIC HEDGEHOG PROTEIN; STEROID; TOLNAFTATE; TRIHEXYPHENIDYL;

EID: 78649508747     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e32833f56d5     Document Type: Review
Times cited : (44)

References (44)
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    • Solomon BD, Pineda-Alvarez DE, Mercier S, et al. Holoprosencephaly flashcards: A summary for the clinician. Am J Med Genet C Semin Med Genet 2010; 154C:3-7. This article provides a summary for clinicians of key information about HPE, in the format of 'flashcards'. The flashcards illustrate the prevalence, causes, and types of HPE, as well as the craniofacial and neurological findings, physical examination features, the clinical approach, and resources.
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    • Clinical spectrum of SIX3- associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function
    • This article represents the largest comprehensive evaluation of patients with mutations in SIX3. The phenotypic analysis reveals that SIX3 mutations result in relatively severe HPE, and the severity can be correlated with genotype based upon a mutation-specific functional assay in zebrafish
    • Lacbawan F, Solomon BD, Roessler E, et al. Clinical spectrum of SIX3- associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function. J Med Genet 2009; 46:389-398. This article represents the largest comprehensive evaluation of patients with mutations in SIX3. The phenotypic analysis reveals that SIX3 mutations result in relatively severe HPE, and the severity can be correlated with genotype based upon a mutation-specific functional assay in zebrafish.
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    • Analysis of genotype-phenotype correlations in human holoprosencephaly
    • This article is a valuable resource for clinicians and genetic counselors to better understand the correlation between genotype and phenotype in HPE. For each known HPE gene, the paper summarizes the characteristic phenotype, the typical mode of inheritance, and the penetrance. This is followed by a statistical analysis of the spectrum of mutations and structural brain anomalies
    • Solomon BD, Mercier S, Velez JI, et al. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet 2010; 154C:133-141. This article is a valuable resource for clinicians and genetic counselors to better understand the correlation between genotype and phenotype in HPE. For each known HPE gene, the paper summarizes the characteristic phenotype, the typical mode of inheritance, and the penetrance. This is followed by a statistical analysis of the spectrum of mutations and structural brain anomalies.
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    • Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet 2010; 154C:52-61. This article reviews the molecular genetics of HPE, including the history of how the HPE genetic loci were mapped, the role of model organisms in understanding development, and how midline and forebrain development proceeds.
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    • Bendavid C, Rochard L, Dubourg C, et al. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci. Hum Mutat 2009; 30:1175-1182. This is the first aCGH study to examine a large cohort of patients with HPE. The study reveals a high frequency of submicroscopic anomalies and updates the map of HPE candidate loci.
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    • Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
    • This article provides updated recommendations for the molecular evaluation of patients with HPE, including a step-by-step algorithm
    • Pineda-Alvarez D, Dubourg C, David V, et al. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet 2010; 154C:93-101. This article provides updated recommendations for the molecular evaluation of patients with HPE, including a step-by-step algorithm.
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    • Mutations in ZIC2 in human holoprosencephaly: Description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 individuals
    • This article describes the characteristic phenotype of patients with HPE and ZIC2 mutations, and reveals how ZIC2-related HPE differs from HPE due to other causes given its lack of typical facial dysmorphisms. The study also emphasizes the importance of examining other organ systems in patients with HPE, not only those 'above-the-neck'
    • Solomon BD, Lacbawan FL, Mercier S, et al. Mutations in ZIC2 in human holoprosencephaly: Description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 individuals. J Med Genet 2010; 47:513-524. This article describes the characteristic phenotype of patients with HPE and ZIC2 mutations, and reveals how ZIC2-related HPE differs from HPE due to other causes given its lack of typical facial dysmorphisms. The study also emphasizes the importance of examining other organ systems in patients with HPE, not only those 'above-the-neck'.
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    • Solomon, B.D.1    Lacbawan, F.L.2    Mercier, S.3
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    • A novel SIX3 mutation segregates with holoprosencephaly in a large family
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    • Stashinko EE, Harley LA, Steele RA, Clegg NJ. Parental perspectives on living with a child with HoPE. Am J Med Genet C Semin Med Genet 2010; 154C:197-201. This article is a great resource for parents of children with HPE and for clinicians. It describes the experiences and perceived needs of a small group of parents, in conjunction with discussing literature relevant to the care of children with HPE.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.