Words similar to mendelian
Example sentences for: mendelian
How can you use “mendelian” in a sentence? Here are some example sentences to help you improve your vocabulary:
Population-based studies of SAH probands show that 7 to 10% have a family history of IA, a higher percentage than previously appreciated [ 1 19 20 ] . These familial IA (FIA) families have no signs of any other simple Mendelian disorders predisposing to IA, supporting the possibility that some or all IAs have a genetic component, and that FIA is a genetic disease separate and apart from previously defined diseases.
To aid readers in locating kinases of interest within the collection, alternative gene names were gathered from LocusLink [ 54] and Online Mendelian Inheritance in Man (OMIM) [ 56] records referred to in GenBank annotations associated with each EPK.
ADPRT = adenosine diphosphate ribosyltransferase; cM = centiMorgan; C-TDT = combined S-TDT and TDT; ESRRG = estrogen-related receptor gamma; HLA = human leukocyte antigen; kb = kilobasepairs; LOD = logarithm of odds ratio; MIM = Mendelian Inheritance in Man (database; see [ 1]); PARP = poly ADP ribosyl polymerase; PCR = polymerase chain reaction; PDT = pedigree disequilibrium test; SLE = systemic lupus erythematosus; S-TDT = discordant-sib TDT; TDT = transmission disequilibrium test; T:NT = ratio of transmitted to nontransmitted alleles.
Cardiac conduction disturbance has also been recognized in the mitochondrial cytopathy, Kearns-Sayre syndrome (Mendelian inheritance in Man database *530000), characterized as progressive external ophthalmoplegia and retinopathy [ 16 ] . Clinical manifestations of cardiac disease occur in 57% of patients with Kearns-Sayre syndrome [ 17 ] . The complete AV block in Kearns-Sayre syndrome may also be associated less commonly with ventricular tachycardia, torsade de pointes and ventricular fibrillation as the ultimate and often fatal stage of the condition [ 18 ] . However, to our knowledge, ventricular tachycardia as a presenting feature has not been described in the context of mitochondrial cytopathies in the neonatal period.
Currently, several risk factors have been identified including cigarette smoking, arterial hypertension, gender, aging, atherosclerosis and heavy alcohol consumption [ 9 10 11 12 ] . Initial indications of a genetic component were based on collections of case reports that suggested that IAs are associated with some rare simple Mendelian disorders, e.g. autosomal dominant polycystic kidney disease, Ehlers Danlos syndrome type IV and the Marfan syndrome [ 13 ] . More recent systematic prevalence estimates indicate either absence of association or markedly reduced prevalence of IA among patients with rare simple Mendelian disorders [ 14 15 ] . Also, genetic analyses of genes known to cause some simple Mendelian disorders have proven negative for collections of patients with IA [ 16 17 ] . The familial occurrence of IAs not associated with known simple Mendelian disorders was first noted in 1942 [ 18 ] and, since then, nearly one hundred case reports and review articles have been published.
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