Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenicMYH3mutation

2016 ◽  
Vol 170 (6) ◽  
pp. 1608-1612 ◽  
Author(s):  
Jennifer Hague ◽  
Isabelle Delon ◽  
Kim Brugger ◽  
Howard Martin ◽  
Stephen Abbs ◽  
...  
Keyword(s):  
2004 ◽  
Vol 126 (2) ◽  
pp. 479-493 ◽  
Author(s):  
Housila P. Singh ◽  
Sharad Saxena ◽  
M.Ruiz Espejo

1972 ◽  
Vol 2 (1) ◽  
pp. 40-44
Author(s):  
L. Heger

The assumption of randomness, underlying the use of range as an estimator of the standard deviation in a normal parent population, was deliberately violated in order to assess how restrictive is this assumption in sampling tree diameters and heights. In only four, out of 34 non-random samples, were the estimates of population standard deviation using range significantly lower than the corresponding root-mean-square estimates. These underestimates were reduced by randomizing the collected data.


1995 ◽  
Vol 120 (6) ◽  
pp. 900-901
Author(s):  
J.R. Baggett ◽  
D. Kean

Inheritance of a twisted pod characteristic, in which bean pods develop with a twist that sometimes exceeds 360°, was studied in crosses between round-podded green bean cultivars. In crosses between `Oregon 91G' (normal) or `Oregon 54' (normal) and OSU 5256-1 (twisted), the F1 was normal. Segregation in F2 populations, tested over a 4-year period and including 4,995 plants, clearly fit a 3 normal: 1 twisted ratio. All plants of backcrosses of the F, to the normal parent were normal and backcrosses of the F1 to the twisted parent segregated 1 normal: 1 twisted. The ratios observed indicated that twisted pods are conditioned by a single recessive gene for which the symbol tw is proposed.


1981 ◽  
Vol 28 (6) ◽  
pp. 785-798 ◽  
Author(s):  
Jack Spira ◽  
Francis Wiener ◽  
Magda Babonits ◽  
Jenny Gamble ◽  
Jacques Miller ◽  
...  

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