Linear independent families of dirac distributions

1978 ◽  
pp. 111-119
Author(s):  
Elemer E. Rosinger
Keyword(s):  
Independent Families

A novel 7·9 kb deletion causing α+ -thalassaemia in two independent families of Indian origin

2003 ◽  
Vol 120 (2) ◽  
pp. 364-366 ◽  
Author(s):  
Cornelis L. Harteveld ◽  
Peter Van Delft ◽  
Pierre W. Wijermans ◽  
Mies C. Kappers-Klunne ◽  
Jitske Weegenaar ◽  
...  
Keyword(s):  
Indian Origin ◽  
Independent Families

scholarly journals Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa

2019 ◽  
Vol 21 (1) ◽  
pp. 86 ◽  
Author(s):  
Marianthi Karali ◽  
Francesco Testa ◽  
Raffaella Brunetti-Pierri ◽  
Valentina Di Iorio ◽  
Mariateresa Pizzo ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Ophthalmological Examination ◽  
Mild Phenotype ◽  
Atypical Form ◽  
Pathogenic Variants ◽  
Wide Range ◽  
Independent Families ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. Pericentral RP is an atypical form of RP characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-periphery of the retina. In contrast to classic RP, the far periphery is better preserved in pericentral RP. The aim of this study was to perform the first detailed clinical and genetic analysis of a cohort of European subjects with pericentral RP to determine the phenotypic features and the genetic bases of the disease. A total of 54 subjects from 48 independent families with pericentral RP, non-syndromic and syndromic, were evaluated through a full ophthalmological examination and underwent clinical exome or retinopathy gene panel sequencing. Disease-causative variants were identified in 22 of the 35 families (63%) in 10 different genes, four of which are also responsible for syndromic RP. Thirteen of the 34 likely pathogenic variants were novel. Intra-familiar variability was also observed. The current study confirms the mild phenotype of pericentral RP and extends the spectrum of genes associated with this condition.

Analytic solution of a finite dam governed by a general input

1974 ◽  
Vol 11 (01) ◽  
pp. 134-144 ◽  
Author(s):  
S. K. Srinivasan
Keyword(s):  
Total Duration ◽  
Random Variables ◽  
Rational Functions ◽  
Characteristic Functions ◽  
Dry Period ◽  
Laplace Transform Technique ◽  
Independent Families ◽  
Set Up ◽  
Input Form ◽  
Finite Dam

A stochastic model of a finite dam in which the epochs of input form a renewal process is considered. It is assumed that the quantities of input at different epochs and the inter-input times are two independent families of random variables whose characteristic functions are rational functions. The release rate is equal to unity. An imbedding equation is set up for the probability frequency governing the water level in the first wet period and the resulting equation is solved by Laplace transform technique. Explicit expressions relating to the moments of the random variables representing the number of occasions in which the dam becomes empty as well as the total duration of the dry period in any arbitrary interval of time are indicated for negative exponentially distributed inter-input times.

The Frequency of Mk in Swiss Blood Donors and its Inheritance in Five Independent Families

2015 ◽  
pp. 399-404 ◽  
Author(s):  
M. N. Metaxas ◽  
M. Metaxas-B�hler ◽  
Y. Romanski ◽  
R. B�tler
Keyword(s):  
Blood Donors ◽  
Independent Families

scholarly journals Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

2020 ◽  
Vol 29 (18) ◽  
pp. 3054-3063
Author(s):  
Congyao Zha ◽  
Carole A Farah ◽  
Richard J Holt ◽  
Fabiola Ceroni ◽  
Lama Al-Abdi ◽  
...  
Keyword(s):  
Optic Lobe ◽  
Critical Role ◽  
Genetic Diagnosis ◽  
Compound Heterozygous ◽  
Clinical Genetic ◽  
Eye Disorders ◽  
Neurodevelopmental Deficits ◽  
Independent Families ◽  
The Brain

Abstract Microphthalmia, coloboma and cataract are part of a spectrum of developmental eye disorders in humans affecting ~12 per 100 000 live births. Currently, variants in over 100 genes are known to underlie these conditions. However, at least 40% of affected individuals remain without a clinical genetic diagnosis, suggesting variants in additional genes may be responsible. Calpain 15 (CAPN15) is an intracellular cysteine protease belonging to the non-classical small optic lobe (SOL) family of calpains, an important class of developmental proteins, as yet uncharacterized in vertebrates. We identified five individuals with microphthalmia and/or coloboma from four independent families carrying homozygous or compound heterozygous predicted damaging variants in CAPN15. Several individuals had additional phenotypes including growth deficits, developmental delay and hearing loss. We generated Capn15 knockout mice that exhibited similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth. We demonstrate widespread Capn15 expression throughout the brain and central nervous system, strongest during early development, and decreasing postnatally. Together, these findings demonstrate a critical role of CAPN15 in vertebrate developmental eye disorders, and may signify a new developmental pathway.

scholarly journals Maximal independent families and a topological consequence

2003 ◽  
Vol 127 (3) ◽  
pp. 343-354 ◽  
Author(s):  
W.W. Comfort ◽  
Wanjun Hu
Keyword(s):  
Independent Families
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