disorder

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Related to mendelian disorder: Mendelian genetics

disorder

[dis′ȯrd·ər]
(crystallography)
Departures from regularity in the occupation of lattice sites in a crystal containing more than one element.
References in periodicals archive ?
These techniques have not only proven to be promising tools in studying the genetics underlying rare Mendelian disorders (12-14), but have also been shown to be valuable diagnostic tools in genetic diseases (3, 8, 15-19).
Exome sequencing approaches to uncovering pathogenic variants in a research setting have shown considerable utility, as evidenced by successes published in the literature for a variety of primarily Mendelian disorders with recessive, dominant, and de novo inheritance patterns.
The laboratory method most often used to detect new or unidentified Mendelian disorders has been whole-exome sequencing (WES), since most mutations causing these disorders are within the 1% of the genome that codes for proteins (i.
Dietz HC (2010) New therapeutic approaches to Mendelian disorders.
also treat children with so-called Mendelian disorders, which are caused by a rare mutation in a single gene.
Regardless of whether they are studying rare disorders that necessitate comprehensive interrogation of the exome, disease-related regions, or Mendelian disorders with known etiology that only require analysis of very specific targets, researchers now have a solution compatible with any type of exome sequencing platform, Borsatti added.
Genetic factors plays a major role in the etiology of DWM, may occur as part of Mendelian disorders and chromosomal aberrations.
The project, entitled Exome Sequencing Identifies Potential Risks Variants for Mendelian Disorders at High Prevalence in Qatar, sequenced the DNA of 100 Qatari nationals representing the three major ethnic subgroups of the country -- the Bedouin, people of Persian-South Asian descent, and people of African descent.
The project, entitled 'Exome Sequencing Identifies Potential Risks Variants for Mendelian Disorders at High Prevalence in Qatar,' sequenced the DNA of 100 Qatari nationals representing the three major ethnic subgroups of the country - the Bedouin (termed Q1 for the purposes of the study), those of Persian-South Asian descent (Q2), and those of African descent (Q3).
The project, entitled "Exome Sequencing Identifies Potential Risks Variants for Mendelian Disorders at High Prevalence in Qatar", sequenced the DNA of 100 Qatari nationals representing the three major ethnic subgroups of the country -- the Bedouin, those of Persian-South Asian descent and those of African descent.