dominant inheritance
Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
... the inheritance pattern is dominant or semidominant, the male in generation III of family H with an affected father, siblings, and son likely represents an individual with an allele for keloids without ...
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DOMINANT INHERITANCE OF DIABETES INSIPIDUS
... Four of the six affected individuals questioned reported an increase in fluid intake and output with fever, yet the patients described in Cases 1 and 2 while under observa- tion in hospi[r] ...
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Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance
... Background: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest ...
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A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
... Three different mutations in the LRSAM1 gene have been shown to cause axonal CMT in humans. Guernsey et al. [7] reported a large, multiply consanguineous family from Eastern Canada, in which axonal CMT was inherited as ...
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Osteopenia in 37 Members of Seven Families: Analysis Based on a Model of Dominant Inheritance
... This may indicate that the rate of bone loss in these families is also affected by genetic factors. The statistically significant outcome of the[r] ...
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Dominant inheritance of large molecular weight immunoreactive glucagon
... Plasma from some individuals contains substances which are reactive with glucagon antiserum, are larger than 3,500-dalton glucagon, and have been proposed as possible precursors of glucagon. We have evaluated three ...
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A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
... 66%. A report by Givens et al. has suggested an X-linked mode [20]. Wilroy et al. [25] showed that 47% of female offspring of PCOS patients in their study were affected. Among the offspring of males with an elevated ...
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Familial Prion Disease Cases Without Mutation in PRNPGene
... Prion diseases, also known as transmissible spongiform encephalopathies (TSEs), are a group of rare and fatal neurodegenerative disorders that affect both humans and animals. The etiology of TSEs contributed to the ...
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Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis
... recessive inheritance (ARO), benign/adult osteo- petrosis with autosomal dominant inheritance (ADO) and autosomal recessive intermediate form (IRO) with clinical manifestation similar to the ...
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A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family
... autosomal dominant inheritance pattern and caused muscle weakness in all limbs, a mildly ele- vated serum level of creatine kinase, slight myogenic changes on EMG, variations in muscle fiber size, and the ...
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Novel AE1 mutations in recessive distal renal tubular acidosis Loss of function is rescued by glycophorin A
... mal dominant inheritance pattern, the combined erythroid and renal phenotype in this family recalled the spherocytosis and acidosis evident in a bovine cohort with a homozygous loss-of- function mutation in ...
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A linkage study of candidate loci in familial Parkinson's Disease
... somal dominant inheritance ...autosomal dominant PD families and the pene- trance of the putative gene was estimated at about forty percent ...autosomal dominant PD ...
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Genetics of Alzheimer's disease: recent advances
... Alzheimer’s disease is a progressive neurodegenerative disorder with high prevalence in old age. It is the most common cause of dementia, with a risk reaching 50% after the age of 85 years, and with the increasing age of ...
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Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
... Background: Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes ( WNT4 and HNF1B ) account for a small ...
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A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia
... In a family expressing euthyroid hyperthyroxinemia, an increased association of plasma thyroxine (T4) with transthyretin (TTR) is transmitted by autosomal dominant inheritance and is secondary to a mutant ...
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Benign familial hematuria due to mutation of the type IV collagen alpha4 gene
... Benign familial hematuria (BFH) is characterized by auto- somal dominant inheritance, thinning of the glomerular basement membrane (GBM) and normal renal function. It is frequent in patients with persistent ...
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Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report
... Case presentation: This is a report of an ADPKD family with co-inheritance of PKD1 and PKD2 pathogenic variants. The proband, with an extremely serious manifestation of ADPKD (the man was diagnosed in early ...
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Inheritance
... However, with abstract classes, you can declare fields that are not static and final, and define public, protected, and private concrete methods. With interfaces, all fields are automat[r] ...
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Inheritance of resistance to Plum pox virus in the progeny of the apricot cv. ‘Harlayne’
... The aim of this study was to improve knowledge of the inheritance of PPV resistance in apricots for use in future breeding programmes. Four diff erent F1 progeny, where the cultivar ‘Harlayne’ was used as a donor ...
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Inheritance
... If the alleles for a characteristic in a homologous pair are different, the organism is said to be heterozygous for that characteristic.. What colour eyes will this heterozygous pair o[r] ...
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