To estimate the relative frequency of mismatch repair genes, rearrangements in hereditary nonpolyposis colorectal cancer (HNPCC) families without detectable mutations in MSH2 or MLH1, we have analyzed by multiplex PCR of short fluorescent fragments MSH2, MLH1, and MSH6 in 61 families, either fulfilling Amsterdam criteria or including cases of multiple primary cancers belonging to the HNPCC spec...

Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Nav 1.4 channels. We identified a novel Nav 1.4 mutation I692M in 14 families out of the 104 genetically identified HyperPP families in the Neuromuscular Centre Ulm and is therefore as frequent as I693T (13 families out of 14 HyperPP familie...

OBJECTIVE Familial medullary thyroid carcinoma (FMTC) is caused by germ-line mutations in the RET proto-oncogene. These mutations concern mainly cysteine residues in exons 10 and 11, whereas noncysteine mutations in exons 13-16 are rare. Mutations in other exons have been reported only in isolated families. In this study we have analysed the RET gene in two FMTC families negative for mutations ...

for development of pollinator parent resistant to powdery mildew disease of sugar beet, relatively resistant 14442 population was used. based on resistance index, 50 resisitant plants were selected to produce half sib family(h.s.f). after random pollination between these 50 plants, seed of h.s.f was harvesed. from these 50 plants, only 39 plants had produced enough seed. next year these h.s.f w...

Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, +t(13q14q), +21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports...

Assuming trapdoor permutations, we show that there exist function families that cannot be VBBobfuscated even if both the obfuscator and the obfuscated program have access to a random oracle. Specifically, these families are the robust unobfuscatable families of [Bitansky-Paneth, STOC 13]. Our result stands in contrast to the general VBB obfuscation algorithms in more structured idealized models...

Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals--13 affected and 13 asymptomatic or normal)...

La(Fe,Mn,Si) 13 -based magnetocaloric materials are one of the most promising material families for realisation near-room temperature magnetic refrigeration. The functional and mechanical properties these crucially depend on their chemistry, which is difficult to control at interfaces between microstructural units. Atom probe tomography was employed reveal local elemental distribution α-Fe/1:13...