Molecular testing in holoprosencephaly

Molecular Testing in Microbiology

There are significant challenges associated with qualitative and quantitative nucleic acid tests performed in diagnostic laboratories. The development of internationally available certified reference materials which can be traced to reference measurements will contribute to a better understanding of the performance characteristics of nucleic acid tests and enhance reliability and comparability ...

Molecular genetics of holoprosencephaly.

Holoprosencephaly (HPE) is a common developmental defect of the human forebrain and midface. Pathological studies have identified different categories of severity of the brain and craniofacial malformations observed in HPE, although the variable clinical spectrum of HPE extends in unbroken sequence from alobar HPE and cyclopia to clinically unaffected carriers in familial HPE. The etiology of H...

Molecular analysis of holoprosencephaly in South America

Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and 82% of th...

molecular testing in microbiology

there are significant challenges associated with qualitative and quantitative nucleic acid tests performed in diagnostic laboratories. the development of internationally available certified reference materials which can be traced to reference measurements will contribute to a better understanding of the performance characteristics of nucleic acid tests and enhance reliability and comparability ...

Holoprosencephaly