Gabriella Herkert Bibliography Page

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# Encyclopedia of science, technology, and ethics
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schema:about ; # Naturvetenskap--etik och moral
schema:about ; # Tecnología--Aspectos morales y éticos
schema:about ; # Technology--Moral and ethical aspects
schema:about ; # Technology--Moral and ethical aspects
schema:about ; # Technology--ethics
schema:about ; # Ethics, Research
schema:about ; # Technologie--Aspect moral
schema:about ; # Science--ethics
schema:about ; # Science--Moral and ethical aspects
schema:about ; # Teknik--etik och moral
schema:about ; # Ciencia--Aspectos morales y éticos
schema:about ; # Sciences--Aspect moral
schema:about ; # Science--Moral and ethical aspects
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schema:about ; # Technologie
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schema:contributor ; # Carl Mitcham
schema:copyrightYear "2005" ;
schema:datePublished "2005" ;
schema:description "v. 1. A-C -- v. 2. D-K -- v. 3. L-R -- v. 4. S-Z, appendices, index."@en ;
schema:description "This encyclopedia considers both the professional ethics of science and technology, and the social, ethical, and political issues raised by science and technology."@en ;
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# Macmillan Reference USA
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# Ciencia--Aspectos morales y éticos
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Abstract

BACKGROUND: Single median maxillary central incisor (SMMCI) is a rare anomaly that may occur alone or associated with other conditions, frequently as part of the holoprosencephaly (HPE) spectrum. However, it has been suggested that SMMCI alone, or associated with some midline defects, may be considered a different entity from HPE (OMIM: 147250). Families with SMMCI, without HPE cases, are difficult to counsel for the risk of HPE in future generations because the same midline defects described as part of the “SMMCI syndrome” can also be part of the HPE spectrum. METHODS: We screened five cases of SMMCI for mutations in three HPE genes, SHH, TGIF, and SIX3. RESULTS: A missense mutation c.686C>T was found in the gene SIX3 of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases. Our results and an extensive literature review of gene mutations in patients with SMMCI showed that 27/28 of them were in HPE genes: SHH (n = 21), SIX3 (n = 3), TGIF (n = 1), GLI2 (n = 1), and PTCH (n = 1), and only one in the SALL4 gene. CONCLUSIONS: The clinical findings in patients with SMMCI without HPE in families with mutations in HPE genes cannot be distinguished from the findings reported in the SMMCI syndrome. Therefore, persons with SMMCI and their relatives should be carefully investigated for related midline disorders, especially of the HPE spectrum, and all known HPE genes screened. Birth Defects Research (Part A), 2007. © 2007 Wiley-Liss, Inc.

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