If
you have any problems downloading documents from this page please
contact Helen White: hew@soton.ac.uk
2008
Meeting |
Title |
pdf |
ppt |
| ESHG |
Mattocks
C , Watkins G , Ward D ,
Janssens T , Matthijs G , Bosgoed E , van der Donk
K , Scheffer H , Pot B 5, Theelen J 6, Aspholm T 6, Cross
NCP : Inter-laboratory diagnostic validation
of conformation sensitive capillary electrophoresis.
European Journal of Human Genetics 2008;16 Suppl 2:333 |
 (0.4MB) |
- |
| |
Swinnen
E, Bakker E, Barton DE, Berwouts S, Bossuyt P, Camajova
J, Corveleyn A, Dequeker E, Janssens T, Macek Jr M, Mann
I, Mattocks C, Morris M, Müller
C, Pratt V, Salden I, Scheffer H, Stambergova A, Wallace
A, Wilson JA, Zoccoli M, Matthijs G: Towards practical
guidelines for validation of genetic diagnostic tests.
European Journal of Human Genetics 2008;16 Suppl 2:430 |
- |
- |
| CMGS |
Mattocks
C: Potential for diagnostic application of
new sequencing technologies.
NB a ppt version of this download is provided to
allow viewing of the presentation with animations.
Access open as ‘read only’.
|
(0.6MB) |
 (1.3MB) |
| Human
Genetics Commission 31st Plenary Meeting |
White
H: “Non – invasive
Prenatal Diagnosis Technical Challenges and Advances” |
(0.3MB) |
- |
| European
Society of Hematology 2008 |
White
H:“Progress
towards establishing BCR-ABL reference reagents”. |
(0.3MB) |
- |
| |
White
HE,
Hochhaus A, Müller M, Saglio G, Branford S,
Hughes T, Gabert J, Wang YL, WalkerPeach C,
Metcalfe P, Cross NCP: “Development
of prototype reference reagents for BCR-ABL quantitative
RT-PCR” |
(0.4MB) |
- |
| Wessex
Ante-Natally Detected Anomalies Register (WANDA) Meeting
2008 |
White
H:“Non-invasive
testing for Down’s syndrome - a simple blood test?” |
(0.2MB) |
- |
2007
Meeting
|
Title |
pdf |
ppt |
| BSHG |
Yearwood
C, Schijvenaars M, Ward D, Mattocks C, Harvey
J: Marfan syndrome: CSCE as a rapid sensitive
technique for screening the FBN1 gene: J Med Genet 2007;
44 Suppl 1:S80
|
|
- |
| |
Hammond
VN, Gerty SM, Sillibourne J, Ward D, Mattocks
C, Simmonds P, Graham N, Armstrong M, Ecles
DM: Inherited mutations in BRCA1 are much more frequent
than in BRCA2 amoungst young breast cancer cases. J Med
Genet 2007; 44 Suppl 1:S132 |
- |
- |
| |
Wallace
A, Barton D, van Bunderen PA, Duncan J, Dunlop J, Man
S, MacPherson J, Monaghan G, McLuskey J, Norbury G, Patel
Y, Powell H, Race V, Sweerney M, Thompson E, treacy R,
Weiss MM, Williams N, White HE, Wymer
B: A multicentre technology assessment of the Abbott
fragile X assay. J Med Genet 2007; 44 Suppl 1:S86 |
- |
- |
| qPCR
2007 (March 2007, Munich) |
White
H:“Potential applications of high resolution melt curve analysis for genetic
diagnostics” |
(0.2MB) |
- |
| Institute
for Reference Materials and Measurements Sept 2007 |
White
H:” Reference
reagents for genetic testing: development of plasmid
based mutation detection reagents by the UK National
Genetics Reference Laboratory
(Wessex)”. |
(0.6MB) |
- |
| Roche
User Group Meeting Oct 2007 |
White H:“ High resolution melting:
potential applications for genetic diagnostics”. |
(0.5MB) |
- |
2006
Meeting
|
Title |
pdf |
ppt |
| SCOBEC
training day |
White
H: “New
techniques for DNA methylation analysis" |
(1.3MB) |
|
| BSHG |
Croft
M, Crolla J, Differ AM, Burville-Holmes
L, Maloney V, Turnpenny PD. Case report:
Deletion 3q22.1-q23 with BPES and an AHO-like brachydactyly
phenotype. J Med Genet 2006; 43 Suppl 1:S50 |
- |
- |
| |
Hall
VJ, Maloney VK, White HE, Liehr T, Volleth M, Barber
JCK. The use of pyrosequencing to identify copy
number variation of 16p11.2 in euchromatic variant carriers
and the normal population. J Med Genet 2006; 43 Suppl
1:S98 |
(0.2MB) |
- |
| |
Mattocks
CJ, Ward D, Harvey JF, Cross NCP.
Design and optimisation of a validated primer set for
automated screening of the BRCA1 and BRCA2 genes. J Med
Genet 2006; 43 Suppl 1:S73 |
(0.4MB) |
- |
| |
Mattocks
C, Ward D, Sillibourne J, Herbert T, Owen
N, Wall M, Goddard P, Harvey JF, Cross
NCP. Implementation of the SCOBEC high throughput
screening facility. J Med Genet 2005; 42 Suppl 1:S90 |
(1MB) |
- |
| |
Pearce
B, Watts K, Maloney VK, Boyle T, Collinson
M, Barber J. Insertion or inversion: that
is the question. J Med Genet 2006; 43 Suppl 1:S99 |
(0.2MB) |
- |
| |
Tatton
Brown K, Barber J, Donaghue C, Maloney
VK, Marks K, Tomkins S, Waits P, Rahman N, McEntagart
M. A family with overgrowth associate with partial trisomy
15q. J Med Genet 2006; 43 Suppl 1:S52 |
- |
- |
| |
White
HE, Potts GL, Cross NCP. NGRL (Wessex) evaluation
of high resolution melt curve analysis for mutation scanning.
J Med Genet 2006; 43 Suppl 1:S85 |
(0.3MB) |
- |
| |
White
HE, Potts GL, Hall VJ, Owen N, Mattocks CJ, Cross NCP.
Reference reagents for mutation scanning: development
of plasmid based reagents by NGRL (Wessex). J Med Genet
2005; 42 Suppl 1:S85 |
(0.2MB) |
- |
| |
White HE, Hall VJ,
Boyle T, Warner J, McLuskey J, Sibbring J, Hamilton S,
Diack J, Allen S, Jones M, Cross NCP.
NGRL (Wessex) evaluation of CE marked in vitro diagnostic
test kits for prenatal diagnosis of aneuploidy. J Med
Genet 2006; 43 Suppl 1:S91 |
(0.3MB) |
- |
10th
International Symposium on Biological and Environmental
Reference Materials |
White HE, Durston VJ, Potts
GL, Harvey JF, Hawkins R, Stacey G, Cross
NCP. Reference Reagents for Genetic Testing:
Development of plasmid based mutation detection reagents
by NGRL (Wessex) |
(0.3MB) |
- |
| CMGS |
White
HE, Taylor GR, Potts GL, Cross
NCP, Taylor C. Evaluation of high resolution
melt analysis for mutation scanning. |
(0.5MB) |
- |
| |
Campbell
JK, White H, Pagan J, Godfrey C, Mein
R, Moore D, Abbs S. Using the Reveal Genetic Mutation Discovery
System (Spectrumedix) for mutation screening in a diagnostic
laboratory. |
(1.1MB) |
- |
| |
Coupe
AM, Thomas S, Mackay D, Bullman H, Harvey J.
Analysis of a cohort of Russell Silver Syndrome patients
for epigenetic changes at the H19DMR and KvDMR loci at
11p15. |
(0.3MB) |
- |
NGRL
(Wessex) High throughput implementation day |
Mattocks C: Batching for high throughput PCR setup.
NB a ppt version of this download is provided to allow
viewing of the presentation with animations. Access open
as ‘read only’. |
(1MB) |
(2.4MB) |
|
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