Results
author = "Beckmann, JS"
66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands.
Description :
Repository :
UCL Eprints
Language(s) :
English
Dynamic molecular combing: Stretching the whole human genome for high-resolution studies
Author(s) :
Michalet, X
,
Ekong, R
,
Fougerousse, F
,
Rousseaux, S
,
Schurra, C
,
Hornigold, N
,
vanSlegtenhorst, M
,
Wolfe, J
,
Povey, S
Description :
DNA in amounts representative of hundreds of eukaryotic genomes was extended on silanized surfaces by dynamic molecular combing. The precise measurement of hybridized DNA probes was achieved directly without requiring normalization. This approach was validated with the high-resolution mapping of cos...
Repository :
UCL Eprints
Language(s) :
Undetermined
Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.
Description :
Hypokalemic periodic paralysis (HOKPP) is an autosomal dominant neuromuscular disorder characterized by flaccid paralysis accompanied by lowered serum potassium levels. We have tested polymorphic markers linked to the adult skeletal muscle sodium channel (SCN4A) locus at 17q23-q25, the T-cell recept...
Repository :
Oxford University Research Archive (ORA)
Language(s) :
English
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.
Description :
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic vari...
Repository :
Oxford University Research Archive (ORA)
Language(s) :
English
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I
Description :
Repository :
Oxford University Research Archive (ORA)
Language(s) :
Undetermined
Mutational analysis of the CDAN1 gene in familial and sporadic congenital dyserythropoietic anaemia type 1
Description :
Repository :
Oxford University Research Archive (ORA)
Language(s) :
Undetermined
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
Author(s) :
CamposXavier, AB
,
Martinet, D
,
Bateman, J
,
Belluoccio, D
,
Rowley, L
,
Tan, TY
,
Baxová, A
,
Gustavson, KH
,
Borochowitz, ZU
Description :
Glypicans are a family of glycosylphosphatidylinositol (GPI)-anchored, membrane-bound heparan sulfate (HS) proteoglycans. Their biological roles are only partly understood, although it is assumed that they modulate the activity of HS-binding growth factors. The involvement of glypicans in developmen...
Repository :
The HKU Scholars Hub
Language(s) :
English
Genome-wide association analysis identifies 20 loci that influence adult height.
Description :
Adult height is a model polygenic trait, but there has been limited success in identifying the genes underlying its normal variation. To identify genetic variants influencing adult human height, we used genome-wide association data from 13,665 individuals and genotyped 39 variants in an additional 1...
Repository :
Oxford University Research Archive (ORA)
Language(s) :
English
Recommendations for a nomenclature system for human gene mutations
Author(s) :
Antonarakis, SE
,
Ashburner, M
,
Auerbach, AD
,
Beaudet, AL
,
Beckmann, JS
,
Beutler, E
,
Cooper, DN
,
Cotton, RGH
,
Den Dunnen, JT
Description :
Repository :
The HKU Scholars Hub
Language(s) :
English
Common Genetic Variation and the Control of HIV-1 in Humans
Author(s) :
Fellay, J
,
Ge, DL
,
Shianna, KV
,
Colombo, S
,
Ledergerber, B
,
Cirulli, ET
,
Urban, TJ
,
Zhang, KL
,
Gumbs, CE
,
Smith, JP
,
Castagna, A
Description :
To extend the understanding of host genetic determinants of HIV-1 control, we performed a genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study was powered to detect common genetic variants explaining down to 1.3% of the variability in viral load at set point. We ...
Repository :
UCL Eprints
Language(s) :
Undetermined