Conference Programme

08:00-10:00 CLINICAL GENETICS SOCIETY - Council Meeting - Room VO44 Vanbrugh College

08:00-10:00 CLINICAL MOLECULAR GENETICS SOCIETY - Council Meeting - Room JCR
Vanbrugh College

10:00-12:30 Concurrent sessions

12:30 ASSOCIATION OF GENETIC NURSES AND COUNSELLORS - Business meeting -
Room PX001 Exhibition Centre

12:30-13:45 Lunch AND POSTER VIEWING (Exhibition Centre)

13:45-15:45 From Cytogenetics to Epigenetics in 40 years
(a symposium in celebration of the work of Professor Patricia Jacobs)

13:45 (SP15) The origin of human nondisjunction: two hits to trisomy -
Dr Terry Hassold (Cleveland, Ohio, USA)

14:15 (SP16) “X files” - Prof Andrea Ballabio (Milan)

14:45 (SP17) Imprinting in development and disease - Dr Wolf Reik (Cambridge)

15:15 (SP18) The fragile X syndrome: from families to CGG expansions and FMR1 gene function -
Prof Jean-Louis Mandel (Strasbourg)

15:45-16:30 TEA AND POSTER VIEWING (Exhibition Centre)

16:30-17:30 Concurrent sessions

17:30 BRITISH SOCIETY FOR HUMAN GENETICS Annual General Meeting - Central Hall

18:00 WINE TASTING around TRADE EXHIBITION - Exhibition Centre

19:00 FIVE-A-SIDE FOOTBALL MATCH - Main Sports Hall

19:30-20:30 Dinner - Vanbrugh College

21:00 MUSICAL SESSION - Central Hall Concourse

09:00 (SP31) Clinical classification of families with germline mutations in the p53 gene and their management - Dr Rosalind Eeles (Sutton)

09:30 (SP32) Genotype and phenotype in carriers of germline TP53 mutations - Dr Jenny Varley
(Manchester)

10:00 (SP33) The TP53 tumour suppressor gene: a sensor of multiple forms of cellular and environmental stress - Dr Pierre Hainaut (Lyon)

10:30-11:15 Coffee AND POSTER VIEWING (Exhibition Centre)

11:15-12:15 Concurrent sessions

12:15-13:45 Lunch and poster viewing (Exhibition Centre)

13:45-15:15 Symposium: Molecular genetics of birth defects

13:45 (SP46) DNA methylation in mammalian development and ICF syndrome - Dr En Li (Charlestown, USA)

14:15 (SP47) P63 mutations account for a range of congenital anomaly syndromes with a clear genotype-phenotype correlation - Dr Han Brunner (Nijmegen)

14:45 (SP48) Coupling signal to expression: RSK2 and the Coffin-Lowry syndrome - Dr Paolo Sassone-Corsi (Strasbourg)

15:15-16:00 Tea AND POSTER VIEIWING (Exhibition Centre)

16:00-17:15 Plenary session

16:00 (SP49) Autosomal recessive Robinow syndrome is allelic to dominant brachydactyly type B and caused by loss of function mutations in ROR2 - Ali R Afzal, A Rajab, CD Fenske,

M Oldridge, N Elanko, E Ternes-Pereira, B Tuysuz, VA Murday, MA Patton, (& AOM Wilkie, S Jeffrey)

16:15 (SP50) A recessive contiguous gene syndrome identifies the type 1C Usher gene. - Maria Bitner-Glindzicz, KJ Lindley, P Rutland, D Blaydon, S Malcolm, P Farndon, MJ Dunne, A Aynsley-Green, B Glaser, (& Hussain K, Smith VV, Milla P, Furth-Lavi J, Sowden J, Scanlan MJ, Liu XZ.)

16:30 (SP51) Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes - I Karen Temple, DJG Mackay, RJ Gardner, JCK Barber, DO Robinson, JPH Shield

16:45 (SP52) A prospective study of major congenital malformations in pregnant mothers with epilepsy - Patrick J Morrison, JI Morrow, JJ Craig, E Guthrie, L Parsons, I Robertson, A Russell

17:00 (SP53) Research Ethics Committees and genetic research: a view from the other side. - Cyril Chapman

17:15 ASSOCIATION OF CLINICAL CYTOGENETICISTS - Annual General Meeting - Central Hall

18:30 CONFERENCE DINNER - YORK RACECOURSE

09:30-11:00 Chair: Dr Nicola Royle

09:30 (SP54) Sequencing the human genome - Dr Jane Rogers (Cambridge)

10:00 (SP55) New bioinformatics approaches in functional genomics - Dr Jean-Michel Claverie (Marseille)

10:30 (SP56) DNA microarrays - fabrication and applications - Prof Edwin Southern (Oxford)

11:00-11:30 Coffee and poster viewing (Exhibition Centre)

11:30-13:00 Chair: Prof Ellen Solomon

11:30 (SP57) Protein folds, functions and evolution - Prof Janet Thornton (London)

12:00 (SP58) Industrial-scale genomics-based drug design - Dr David Bailey (Cambridge)

12:30 (SP59) Yeast as a model organism for functional genomics - Prof Stephen Oliver (Manchester)

13:00-14:15 Lunch AND POSTER VIEWING (Exhibition Centre)

14:15-15:15 Chair: Prof Julian Sampson

14:15 (SP60) Sequence and analysis of the genome of the plant Arabidopsis thaliana -

Prof Mike Bevan (Norwich)

14:45 (SP61) Human genome-wide expression studies - Prof Patrick Brown (Stanford, USA)

15:15 The Carter Lecture
Chair: Dr Helen Hughes

(SP62) Medical and Societal consequences of the Human Genome Project

16:15 End of Conference

1.01 Heptasomy 21 in Acute Myeloid Leukaemia - Meg Heath

1.02 UK cancer genetics services - the response to a new need - David Wonderling, P Hopwood, A Cull, F Douglas, M Watson, J Burn, K McPherson

1.03 CGH analysis of breast cancers with 10yr patient survival data - Gordon Hislop, AM Thompson, D Goudie, N Pratt, A Robertson, CM Steel

1.04 The use of multi-colour fluorescence technologies in the characterisation of prostate carcinoma cell lines: A comparison of multiplex-FISH and spectral karyotyping data. - Jon Strefford, D Lillington, B Young, RTD Oliver

1.05 Autosomal dominant acute T-cell leukemia / lymphoblastic T-cell lymphoma in an Irish family - Kristin Becker, F Breatnach, AJ Green

1.06 BRCA1 and BRCA2 mutation analysis in Irish breast cancer families - Trudi McDevitt, N Miller, W Ormiston, N Cody, PA Daly, E McDermott, DE Carney, AJ Green, DE Barton, (& AlKindi S, O'Malley K, Nolan C)

1.07 Two unusual and unrelated cytogenetic abnormalities in a patient with AML. - Sarah Ryley, S Bradley, J Harrison, C Scott, K Waters

1.08 Predicting response to taxane chemotherapy in ovarian cancer: the role of beta-tubulin gene mutations - Andy Schofield, NE Haites

1.09 A new medium for haematological malignancies which increases the mitotic index 4 fold without significant differences in abnormality rates - Louisa Davis, A Herbert, CM Pike, TM Hutchings, C Tyreman, FM Ross

1.10 Comparison of cytogenetics and multiplex RT-PCR for the detection of leukaemia-associated chromosomal abnormalities. - Fiona Ross, DJ Bunyan

1.11 Transcript map of the 3p12 region defined by overlapping homozygous deletions in lung and breast cancers - Ashraf Dallol, A Martinez, D Macartney, E Forgacs, P Rabbitts, ER Maher, JD Minna, F Latif

1.12 Detection of BRCA1 whole exon duplications in breast/ovarian cancer families by MAPH - Isa Abdi Rad, AL Sharif, JA Raeburn, RW Blamey, SY Chan, CMGS laboratories, JAL Armour, GS Cross

1.13 Cancer Genetic Service in Wales: Realising the potential - Elizabeth France, JR Gray, Shelley Dougan, Aletta Poll, Kim Gamet

1.14 Combining the results of 143 different studies into LOH in breast cancer: producing integrated maps to identify commonly deleted regions. - Marion Hamshere, R Osborne

1.15 HNPCC or Attenuated FAP? Lessons from a colorectal cancer family with MSH2 T905R and APC R332X. - Ian Frayling, SJ Payne, JA Bell, JA Cook, ER Maher, J Mackay, IPM Tomlinson, JL Whittaker

1.16 A multidisciplinary approach to familial ovarian cancer - Kate Stansfield, E France, A Evans, A Fiander, N Amso, J Gray

1.17 A case of a BRCA1 and BRCA2 double heterozygote in a breast-ovarian cancer patient: implications for laboratory screening policies and counselling - Pauline Rehal, P Turnpenny, S Ellard, Y Stait, F Macdonald

1.18 Bax and bcl-2 proteins in ovarian cancer prognosis and survival - Iain Brown, BJ Milner, ID Miller, N Haites

1.19 3p allelotyping of head and neck squamous cell carcinoma (HNSCC) reveals four minimal regions of loss: mutation analysis of candidate genes from minimal region at 3p25-24.2. - Richard Hogg, P Fullwood, M Kuo, J Watkinson, ER Maher, F Latif

1.20 Combined genetic analysis of Lymphoma - Keiko Asakura, JJP Cunningham, DU Baty, N Kernohan, NR Pratt

1.21 A case of acute lymphoblastic leukaemia with t(9;15)(q34;q?15) as a primary event, and der(19)t(1;19)(q23;p13) as a secondary event - Kalliroi Stergianou, CA Parkin, KM Forman

1.22 UKCSSG study of karyotype data for children, adolescents and adults diagnosed with tumours of the Ewing's sarcoma family - Clive Felix, P Roberts, SA Burchill, IJ Lewis

1.23 Investigation of the Transcriptional Regulator LMO4 as a Candidate Tumour Suppressor Gene in the Paediatric Tumour Neuroblastoma - Tracey Genus, MEM Oude Luttikhuis, P Ramani, CM McConville

1.24 Interaction of selected food constituents with APC function in enterocytes - Ian Mickleburgh, M Buddles, SP West, JC Mathers, A Curtis

1.25 Characterisation of candidate breast tumour suppressor genes located at 3p21.3 - Sofia Honorio, A Agathanggelou, D Macartney, K Gordon, RA Walker, ER Maher, JD Minna, MI Lerman, F Latif, (& The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium)

1.26 Difference between Swedish and Japanese men in the androgen receptor polymorphism associated with prostate cancer - Chunde Li, G Grönberg, H Matsuyama, G Weber, J Damber, C Larsson, U Bergerheim, M Nordensjöld, P Ekman

1.27 Genetic testing for familial adenomatous polyposis coli (FAP) in Newcastle: eight years on - Ros Pinkett, V Spencer, A Curtis, T Hamzehloei, I Cross, J Burn, F Douglas, S West, P Chapman, (& Gunn, A)

1.28 Comparative genomic hybridisation in hepatoblastoma - Marice Mullarkey, CJ Breen, M McDermott, A O'Meara, RL Stallings

1.29 A t(19;22)(q13;q12) translocation in a case of PNET: A new EWS rearrangement - Paul Roberts, J Leek, IJ Lewis

1.30 DHPLC analysis of HNPCC: a rapid sensitive exon screen of hMLH1 and hMSH2 - Stephen Haynes, D Eccles, J Harvey

1.31 Beta-tubulin gene mutations and response to vinca alkaloids in acute lymphoblastic leukaemia - Benedict J. Milner, MA Vickers, AC Schofield, DJ Culligan, JE Tighe, NE Haites, DJ King

1.32 Clinical features of non-syndromic familial phaeochromocytoma - Irene Aligianis, J Connell, F Douglas, DGR Evans, E George, SV Hodgson, P Morrison, ER Maher

 

2.01 An unexpected finding of fragile X (FRAXA) syndrome in a fetal blood sample referred for abnormalities on ultrasound scan - Terry James, A Trigg, VH Lindley, GA Fews, E Roberts, C McKeown, EV Davison

2.02 An inherited unbalanced interstitial deletion of chromosome 3 without apparent phenotypic effect. - Vikki Bourne, N Smith, l Munro

2.03 Ectrodactyly diagnosed prenatally on ultrasound scan in association with an apparently balanced familial translocation - Merryl Curtis, SJ Davies, A Jones, SJ Morris, N Rahman, SA Spillane, M Vaughan, SH Roberts

2.04 A family with an X/11 reciprocal translocation - skewed X inactivation in an unbalanced female karyotype (46,X,der(X),t(X;11)(p21;q14)mat). - Ann Oliver, PW Lunt, T Davies, RT Howell

2.05 Marker chromosome defined by FISH, identified during infertility investigations in a male with azospermia - cause or coincidence? - Susan E Mcnerlan, PJ Morrison, N McClure, NC Nevin

2.06 Prenatal diagnosis of complete trisomy 10 - Alex Magee, GW Smith, CM Thornton

2.07 A series of three translocations showing 3:1 segregation - George Davis, E Roberts, EV Davison

2.08 Prenatal diagnosis of a de novo triplication of chromosome 9p: 46,XY,trp(9)(9pter->p13::p13->p24::p24->qter) - Geoff Smith, FJ Stewart, CT Thornton, A Brown

2.09 A mild phenotype associated with an Xp terminal deletion in an infertile male - Kath Smith, EL Maltby, OW Quarrell

2.10 A case of Jacobsen syndrome in a neonate with del(11)(q23.3) and his mother with fra(11)(q23.3). - Adam Dunlop, P MacMahon, AJ Green, RL Stallings

2.11 De novo triplication of 15q11-q13 including the PWASCR - a further case report - Mark T Rogers, PW Thompson, M MacDonald, R Davies, SH Roberts

2.12 Use of fluorescent in situ hybridisation on buccal cells, after cytogenetic analysis of lymphocyte cultures revealed an unexpected mosaic karyotype. - David Delmege, R Howell, C Owen, S Nisbet, C Delmege, A McDermott

2.13 Prenatal Interphase FISH Screening - An Australian laboratory's experience - Lee Harrison, L Webber, H Slater

2.14 Prenatal diagnosis of trisomy 9: four more cases and a review of the U.K. Chromosome Abnormality Database - Sarah PORTER, A Sriemevan, K Przyborski, L Pindar, E Wilson, T Overton, V Sams, J Pearson

2.15 A female with a de novo duplication of the Prader-Willi/Angelman critical region, demonstrated to be of maternal origin by FISH - Lionel Willatt, JCK Barber, FL Raymond

2.16 An Audit of the Success of Tissue Biopsies Received for Cytogenetic Analysis. - Julie-Ann Moore, D Delmege, T Davies, M Staley, A McDermott, R Howell

2.17 Gonadal mosaicism manifested by a rare cytogenetic event: two siblings with a apparently identical 'de novo' 5p deletions, consistent with 'cri du chat' syndrome - Richard Evans, LJ Williams, JJ Waters, P Farndon, EV Davison

2.18 An unbalanced X chromosome translocation in a girl with oligomenorrhoea - further evidence for the localisation of POF 2 to distal Xq - Selwyn Roberts, SJ Davies, PW Thompson, AE Edwards, C Anderson

2.19 Duplication-deletion of chromosome 8p arising from a parental non-deleted duplication in the same region - Shane A McKee, P Miller, JC Agwu, PA Farndon

2.20 Prenatal diagnosis of Fanconi Anaemia and Ataxia Telangiectasia by chromosome breakage studies - Helen M Lewis, IP Kesterton, Z Docherty

2.21 A man with 45,X and X;Y translocation - Andreas Tzschach, S Strenge, H Holland, J Edelmann, U Froster

2.22 Antenatally ascertained mosaic 45,X/46,X,+mar(Y): case report and literature review - Rachel Harris, JA Crolla, TA Boyle

2.23 Partial trisomy 10q rearrangement elucidated using subtelomeric probes - Shah Begum, PJ Simpson, SA Larkins, EV Davison

2.24 The introduction and uptake of prenatal FISH in the North Trent Region - Dena Jenkins, I Barnes

2.25 Phenotypic effects of balanced X-autosome translocations in females: a collaborative study on behalf of the ACC - Carolyn Campbell, PL Campbell, AJM Crocker, JJ Waters

2.26 Prenatal diagnosis of three unbalanced 5;18 translocations and the use of FISH - Eileen Roberts, DAT Thompson, SA Larkins, GA Fews, PR Miller, EV Davison

2.27 A duplication of chromosome segment 11q14.3 to 11q22.2 without apparent phenotypic effect. - Kevin Ocraft, K Stergianou, N Smith

2.28 An unusual small ring X chromosome in a short statured girl - Karen Marshall, D Duckett, P Swift

2.29 Detailed FISH anaylses of three Silver-Russell syndrome (SRS) patients with cytogenetic disruptions of chromosome 7p11.2-p13 define a candidate region for SRS. - David Monk, MP Hitchins, KI Temple, A Sharp, MA Preece, P Stanier, GE Moore

2.30 A case of Down Syndrome with 45 chromosomes - Fergus Glencross, J Watt, A Morris, GW Lowther, D Newby, J Crossley, DA Aitken

2.31 Polymorphism is a complicating factor in the detection of 2q abnormalities during multiple sub-telomere screening. - Catherine Delmege, L Burvill-Holmes, G White

2.32 Trisomy for the region 2p25.2 to 2pter with a variable phenotype. - Lorraine Gregory, T Davis, J Bonney, D Delmege, H Skirton, P Lunt

2.33 Karyotypic discordance between 48hr and 72hr PHA -stimulated blood cultures in a dysmorphic newborn demonstrating presumptive trisomy 9 marker rescue - Sally Hill, JJ Waters, K Nathavitharana, EV Davison

2.34 Chromosome 11q deletion distal to the Jacobsen Syndrome critical region. - Paul Batstone, D Hamilton

2.35 Isochromosome 7q in two children with Shwachmann-Diamond Syndrome. - Julie Howard, A Dunlop, J Kelly, A O'Marcaigh, RL Stallings

2.36 A fortuitous diagnosis of Bloom syndrome - Lyndsey Connell, S Huson, A Keen, J King, J German, P Batstone, D Hamilton

2.37 Tall stature, gonadal dysgenesis and lack of Turner syndrome features in a patient with a rearranged X chromosome (Xpter->Xq21::Xp11->Xpter). - Doreen Hamilton, P Batstone, L Forsyth, S Ghaffari, F Mohammed, E Boyd

 

3.01 A familial cryptic subtelomeric translocation which gives two phenotypically distinct cytogenetically unbalanced liveborn segregants. - Angela Fifer, N Smith, I Young

3.02 Characterisation of 3 small mosaic supernumerary marker chromosomes (SMC's), detected prenatally, by multiprobe FISH - Elizabeth Wilson, K Przyborski, L Pindar, S Porter, J Pearson, D Trump

3.03 Discordant results using different subtelomeric probes in an inherited abnormality of chromosome 14 without phenotypic effect. - Hazel Harvey-Smith, ST Mountford, JM Emmerson, CM Campbell, L Izatt, CS Waters

3.04 Identification of a marker chromosome by multiplex fluorescence in situ hybridisation (M-FISH) - Eileen Stevenson, R Sachdev, R Anderson, EJ Maher

3.05 The use of subtelomeric FISH on satellited non-acrocentric chromosomes - Kath Smith, EL Maltby

3.06 Prenatal diagnosis of a cryptic familial subtelomeric translocation involving chromosomes 2 and 7 not detectable by standard cytogenetic analysis Irene Carolina, G Davis, JJ Waters, K Brackley, M Kilby, JE Morton, EV Davison

 

4.01 The influence of intellectual handicap on life expectancy in Western Australia - Alan Bittles, E Glasson, J Hallmayer, R Hussain, BA Petterson, PD Montgomery

4.02 Pseudo-Torch syndrome: the autosomal recessive syndrome of microcephaly, intracranial calcification and dysmorphism, resembling intrauterine infection.. An additional observation - Nursel Elçioglu, G Alper, Y Yilmaz, (& Marmara University Hospital, Istanbul, Turkey)

4.03 Towards best practice guidelines for the genetic diagnosis of malignant hyperthermia susceptibility - Rachel Robinson, C Brooks, JP Halsall, PM Hopkins, DE Iles, MA Shaw, SP West, FR Ellis, (& Curran JL, Brown S, Hall WJ)

4.04 A new case of Froster Iskenius Meinecke syndrome - a clinical and pathological study - Cristina Rusu, M Volosciuc, D Mihaila, M Covic

4.05 Guidelines for molecular genetic testing for malignant hyperthermia susceptibility - Sarah West, T Deufel, T McCarthy, A Urwyler, (& The European Malignant Hyperthermia Group)

4.06 Incidental health benefits occurring as a result of a clinical study of fetal anticonvulsant syndrome - Hazel Hailey, S Moore, S Bevan, D Lloyd, S Joss, JCS Dean

4.07 An evaluation of the design issues in developing a usable staff web site and it's contribution to meeting NHS objectives for the use of Information Technology - Jeffrey Alderman, JR Gray

4.08 Atrial septal defect and NKX2.5 - Yung-Hao Ching, SJ Cross, AI Gilliland-Patterson, D Bonnet, RA Newbury-Ecob, JD Brook

4.09 Chromosome 22q, velo-cardio-facial syndrome (VCFS) and schizophrenia - Kieran C Murphy, NM Williams, AG Cardno, LA Jones, P Holmans, P Thompson, N Thomas, P McGuffin, MJ Owen

4.10 The neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS) - Jayne C Henry, T van Amelsvoort, RG Morris, MJ Owen, KC Murphy, DGM Murphy

4.11 A family history of male subfertility: how many syndromes? - Carol-Anne Gardiner, AJ Rutherford, AH Balen, AD Joyce, CE Chu

4.12 X-chromosome trinucleotide repeats: Effect on brain structure - Caroline J Moore, EM Daly, G McAlonan, K Davies, KC Murphy, DGM Murphy

4.13 Myoclonic movement disorder associated with microdeletion of chromosome 22q11 - Diana Baralle, D Dick, D Trump, C ffrench-Constant

4.14 A Schinzel Giedion like syndrome - Shelagh Joss, JCS Dean

4.15 A novel cause for aniridia: position effect and PAX6 - Paul Brennan, J Crolla

4.16 Abnormal liver function tests in myotonic dystrophy patients. - Helen Gregory, A Kidd, S Joss, K Kelly, Z Miedzybrodzka, S Moore, J Dean

4.17 Severe deficiency of the left side of the body associated with craniorachischisis - Fiona Stewart, MD O'Hara, PJ Morrison

4.18 Consanguineous marriage and early offspring mortality in the Muslim populations of Pakistan and India - Rafat Hussain, AH Bittles

4.19 Level of interest among Ashkenazi Jewish women, who have no family history of breast cancer, in genetic testing for breast cancer susceptibility. - Sara Levene, T Clancy

4.20 Genetic testing for haemochromatosis: a survey of current practice - Christine Patch, WR Rosenberg

4.21 CF carriers as communicators of genetic information in their family - Stephanie Temperton, P Guilbert, JAR Raeburn, J Shakespeare

4.22 The evaluation of genetic testing in individuals at high risk of colon cancer compared to individuals at high risk of breast cancer. - A Naomi Steggles, A Bish, S Hodgson, H Thomas, S Goff, S Sutton

4.23 Facial features in children with Idiopathic Congenital Talipes Equinovarus - David Chesney, Z Miedzybrodzka, S Barker, L Sharp, N Haites, N Maffulli

4.24 Breast cancer in two sisters with Freidreich's Ataxia - Alexa Kidd, R Coleman, SA Simpson, NE Haites

4.25 How well does the Huntington's disease test protocol prepare its participants for life with their result? - Josephine Affleck

4.26 Experiences and reproductive decisions of carriers of X-linked conditions - Elizabeth Grover, H Kingston

4.27 Public perception of medical genetics in British newspapers - Annelise Nehammer, T Clancy, C Oliver

4.28 The Cambridge eye genetics clinic: review of the most recent three years - Kathy Barnes, M Comer, JRW Yates, ATM Moore, D Trump

4.29 A new mutation in a case of Duchenne muscular dystrophy with a positive family history. - Cheryl Longman, A Cooke, DE Wilcox

4.30 No evidence for PTEN mutations as a cause of Sotos syndrome or autosomal macrocephaly - Susan Tomkins, H Hughes, M Upadhyaya, D Ravine, T Cole, N Rahman

4.31 Glucocorticoid suppressible hyperaldosteronism - Paul Brennan, P Bath

4.32 Natural history of Gorlin Syndrome and the spectrum of mutations in the PTCH gene - Peter Farndon, CA Hardy, SJ Rooker, P Fullwood, FM Richards

4.33 Direct risk calculation on pedigrees - a visually informative approach for DMD/BMD - David Cockburn

4.34 A diagnostic service for craniofacial syndromes and skeletal dysplasias - Rachel Jones, GM Monaghan, M Boxer

4.35 Cancer genetics counselling - psychosocial outcomes one month after first consultation - Penelope Hopwood, D Wonderling, A Cull, F Douglas, M Watson, J Burn, K McPherson, (& Cole T, Eccles D, Gray J, Murday V, Steel M)

4.36 What is the incidence of renal involvement in nail patella syndrome?: evidence from the literature - Elizabeth Sweeney, A Fryer

4.37 Uniparental disomy, molecular and social difficulties in interpretation - David Ravine, LP Lazarou, PJ Fisher, IJM Doull, M MacDonald, PW Thompson, H Gill, AL Meredith, A Clarke, (& Little E)

4.38 Autosomal recessive primary microcephaly - an evolutionary disease - Geoff Woods, AP Jackson, E Roberts

4.39 Fragile X (E) syndrome. How common is it? - Lazarus P Lazarou, J Myring, SJL Knight, AP Gardner, A Clarke

4.40 Cohen's Syndrome:- A photoessay of the phenotype in the early years. - Alexa Kidd, K Chandler, J Dean

4.41 Association between an allele of the follicle stimulating hormone receptor (FSHR) gene and Polycystic Ovary Syndrome - Sukhwinder Sahota, C Bell, C Clark, A Templeton, NE Haites

4.42 Autosomal recessive colobomatous micro/anophthalmia in a consanguineous Irish traveller family. - Muireann Ni Chroinin, P Tormey, S Ennis, AJ Green

4.43 The reactions of general practitioners to the development of an all-Wales cancer genetic service - Jonathon Gray, RT Iredale, GJ Elwyn

4.44 Does education affect familial cancer referrals - Eila Watson, A Clements, A Lucassen, P Yudkin, P Rose, J Mackay, J Austoker

4.45 Coffin-Lowry syndrome: A family study of behavioural characteristics - Marc Woodbury-Smith, L Raymond, C ffrench-Constant, A Holland

4.46 A prospective, population based study of developmental delay and craniofacial dysmorphism in children born to women with epilepsy. - Fiona James, SA Lynch, SD Fairgrieve, D Walshaw, UK Wariyar

4.47 The frequency of inherited disorders database (FIDD) - Layla Naman Al-Jader, PS Harper, M Krawczak, SR Palmer, B Johansen, DN Cooper

4.48 Two siblings with spinocerebellar ataxia and skin pigmentary abnormalities - a possible new recessive condition - Shane A McKee, PJ Morrison, TFG Esmonde

4.49 Sutural hyperostoses, epibulbar dermoids and developmental delay: a further case of regional Proteus syndrome or a distinct clinical entity? - Melissa Lees, R Hayward, CM Hall, RM Winter, L Wilson

4.50 Family history and molecular genetic investigations in men with oligospermia referred for intracytoplasmic sperm injection (ICSI) - Carol-Anne Gardiner, V Sharma, AJ Rutherford, AH Balen, KJ Flintoff, GR Taylor, CE Chu

 

5.01 Frequency of CFTR gene mutations in males participating in icsi programs in western australia - Roger Martin, K Gray, E Edkins

5.02 Linkage disequilibrium (LD) across long physical distances in four different populations with different demographic histories. - Francine Durocher, A Dunning, C Healey, S McBride, D Teare, F Carlomagno, CF Xu, D Easton, B Ponder, (& Lai E, Dawson E, Rhodes S, Purvis I)

5.03 Genetic diversity among the Salar, Bo'an, and Dongxiang Muslim populations in the Peoples Republic of China - Thomas Baric, W Wang, AH Bittles

5.04 Association of the TNF-alpha -308 (G-A) polymorphism with self-reported history of childhood asthma and evidence for a putative interaction with the ACE I/D polymorphism in asthma susceptibility - Elizabeth Winchester, IY Millwood, L Rand, MA Penny, AM Kessling

5.05 Calculating a genomic estimate of consanguinity - Alan Bittles, J Kumm, W Wang, S Di Grandi, HS Savithri, N Appaji Rao

5.06 Towards high-throughput association studies using single nucleotide polymorphisms - Karen L Thorpe Novik, BAJP Ponder

5.07 Epidemiology and trends in diagnosis of trisomy 18 in Northern Ireland - David Grier, NC Nevin

5.08 DNA profiling in a genetically mixed far eastern population of Russia - Valery Kozhemyako, D Aminin

5.09 MALDI-TOF mass spectrometry and single nucleotide polymorphism analysis in human populations - Thomas Baric, P Worsley, W Wang, L Kalaydjieva, AH Bittles

 

6.01 Analysis of Prader-Willi syndrome in western australia - Roger Martin, K Gray, E Edkins

6.02 Maternal UPD 14/trisomy 14, a differential diagnosis of Prader Willi syndrome. - Helen Cox, M Connarty, H Bullman, IK Temple

6.03 Two Cases of Prader-Willi Syndrome Caused By Imprinting Centre Mutations - Joanne Dunlop, S McKay, S Warburton, P Clouston, J Morton, A Norman, F Macdonald

6.04 Carrier diagnosis of Hemophilia-A by ARMS method of PCR - Seyed Ali Rahmani, Zeinali

6.05 Mutation analysis in glycogen storage disease type Ia - Cathy Meaney, P Lee, T Cranston, S Genet

6.06 Mutations of the MECP2 gene in Rett syndrome - Kim Hampson, F Latif, CG Woods, T Webb

6.07 A cryptic splice mutation (ivs12+11c>g) in ldlr gene in five families with Familial Hypercholesterolaemia - Claire Winifred Kirk, CA Graham, K Lyttle, ED Beattie, DP Nicholls

6.08 Mapping the Multiple Self-Healing Squamous Epithelioma (MSSE) gene: exclusion of Patched (PTCH) and Transforming growth factor beta receptor type I (TGFBR1) genes. - Shikha Bose, LJ Ward, DR Booth, MA Ferguson-Smith, FM Richards

6.09 Mutation analysis in X-linked Retinoschisis - Rebecca Treacy, D Trump, J Whittaker

6.10 Mutation analysis of the dystrophin gene by multiplex fluorescent heteroduplex analysis - Kristin Becker, SC Yau, Z Hatton, P Renwick, S Abbs

6.11 Detection of multiple mitochondrial DNA deletions in the diagnostic molecular genetics laboratory - Carl Fratter, A Seller, J Poulton

6.12 A novel isothermal assay for the detection and discrimination of genetic mutations. - John Lloyd

6.13 Genetic analysis for Fragile X syndrome by fluorescent PCR - Carl Fratter, A Morsman, A Seller

6.14 Determination of SMN1 and SMN2 copy number in a control population - David Bourn, R Butler, J Lewis, F McGill, D Pike, R Mountford

6.15 Mutation spectrum of hyperphenylalaninaemia and genotype-phenotype correlations in the Irish population - David Croke, KA O'Donnell, C O'Neill, O Tighe, E Naughten, PD Mayne

6.16 Exclusion of linkage of known Meckel syndrome loci in an inbred Pakistani population - Daniel Murphy, S Malik, Y Crow, M Houseman, R Mueller

6.17 The Irish cystic fibrosis database - a year 2000 update - Shirley A McQuaid, C Joyce, AJ Ward, F Ryan, C Clabby, TM McDevitt, DJ Cockburn, DE Barton

6.18 Mapping of a locus for autosomal dominant Hemifacial Microsomia - Daniel Kelberman, J Tyson, AM McInerney, S Malcolm, RM Winter, M Bitner-Glindzicz

6.19 Bronchiectasis and Mutations of the Cystic Fibrosis Transmembrane Regulator Gene - Alison Taylor, PS Tarpey, D Bilton, JL Whittaker

6.20 Development of a diagnostic service for tuberous sclerosis. - Debra Valler, KA Diver, T Bedenham, CJ Mattocks, JRW Yates, JL Whittaker

6.21 Towards a comprehensive mutation screening strategy for Alport syndrome - Kathy King, FA Flinter, PM Green

6.22 The use of DHPLC technology to detect PLP gene mutations in Pelizaeus-Merzbacher patients - Elizabeth Donohoe, DU Baty

6.23 A competitive fluorescent PCR assay for the simplified detection of gene duplications and deletions in patients affected with HMSN1 and HNPP. - Patrick Tarpey, CJ Mattocks, JL Whittaker

6.24 Strategy for molecular diagnosis of immunodeficiency at Great Ormond street hospital: a multidisciplinary approach - Treena Cranston, K Gilmour, S Loughlin, D Walshe, B Gaspar, T Lester, S Heath, AM Jones

6.25 Mutation detection in Canavan disease (CD) - Samantha Butler, E Fagan, YC Cheng, SJ Payne

6.26 Cenani-Lenz syndrome with renal hypoplasia is not caused by mutations in FORMIN or GREMLIN - Chiara Bacchelli, FR Goodman, PJ Scambler, RM Winter

6.27 Fragile-X intermediate alleles - a clinical dilemma - Kokila Chotai, AE Buckingham, CM Bentley, RJ Wycherley, SJ Payne

6.28 Polymorphisms of DNA repair gene XRCC1 and somatic mutations at the glycophorin A locus - Caroline Relton, CP Daniel, AF Fisher, D Chase, EJ Tawn

6.29 Evaluation of comercial DNA profiling kit for chimerism testing following bone marrow transplantation - Judith Hudson, MA Aldred

6.30 Variation in the estrogen receptor genes (ESR1 and ESR2) and susceptibility to anorexia nervosa - Helen Eastwood, KMO Brown, DA Campbell, LP Pieri

6.31 Genetic screening for progressive familial intrahepatic cholestasis - Sandra Strautnieks, J Byrne, E Soler, A Knisely, L Bull, E Sokal, N Freimer, G Mieli-Vergani, R Thompson

6.32 Keratin mutation screening using the Transgenomic Wave Analyzer. - Pam Wood, FJD Smith, D Baty, WHI McLean

6.33 A novel mutation in the Notch 3 gene causing CADASIL - Sandra Chudleigh, RPJ De Lange, JM Connor

6.34 Linkage to PAX9 in non-syndromic severe hypodontia - Mike Harrison, S Malcolm, MC Meikle, N Prescott, J Tyson

6.35 Exploring the clinical significance of dystrophin duplications - Shu Yau, M MacLeod, Z Hatton, F Muntoni, C Mathew, S Abbs

6.36 A locus for preaxial polydactyly with sternal abnormalities maps to chromosome 7q36 - Tilda Gordon, M Dundar, A Cooke, I Ozyazgan, F Oguzkaya, Y Ozkul, S Holloway, J Tolmie, F Goodman

6.37 Origin of new mutations in ornithine transcarbamylase (OTC) deficiency - Treena Cranston, P Logan, S Genet

6.38 Batten's disease; expansions in the diagnostic service at GOSH - William Peter Logan, EP Young, RB Wheeler, J Sharp, SA Genet

6.39 Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24 - Harinder Gill, M Wright, J Carter, M Splitt, J Goodship

6.40 A further family with progressive cardiac conduction defect displays linkage to the sodium channel gene SCN5A - Julie Watson, NE Haites, JCS Dean

6.41 No association between a promoter polymorphism of the UFD1L gene and schizophrenia in individuals with or without velo-cardio-facial syndrome (VCFS). - Hwyel Williams, KC Murphy, G Spurlock, MJ Owen

6.42 An Atypical BRCA1 PTT Result: Somatic Mosaicism or Artefact? - Lindsey Sutherland, AS Gilmour, AL Sharif, GS Cross

6.43 Advantages of Reverse Dot Blot (RDB) versus Amplification Refractory Mutation System (ARMS) in Beta-thalassemia mutation detection in Iranian population - Hossein Najmabadi, S Teimourian, F Pourfarzad, R Kariminejad, S Jalilnejad, M Azad, M Neishabury, K Walter

6.44 Carrier Detection of Spinal Muscular Atrophy (SMA) in Iran - Hossein Najmabadi, S Teimourian, F Pourfarzad, R Kariminejad, Y Shafeghati, M Neishabury

6.45 A sequence based assay for the detection of all classes of structural mutations in patients affected with neurofibromatosis type 1. - Christopher Mattocks, D Baralle, C ffrench-Constant, PS Tarpey, JL Whittaker

6.46 Rapid, reliable screening for connexin 26 mutations in non-syndromic sensorineural hearing loss - Lucy Anne Ellis, GR Taylor, RF Mueller

6.47 Use of automated PCR in the diagnostic DNA laboratory to reduce screening time in hereditary non-polyposis colon cancer - Yvonne Wallis, P Rehal, A Chauhan, A Marshall, F Macdonald

6.48 Wolfram/DIDMOAD syndrome: five year follow-up and mutation analysis of UK cohort - Timothy Barrett, F Khanim, S Rees, F Latif

6.49 A transcript map for the congenital heart disease gene region in chromosome 3p25 - Matthew D Priestley, EK Green, J Waters, F Latif, ER Maher

6.50 Confirmation of the gene for autosomal medullary cystic kidney disease (ADMCKD2) on chromosome 16p12 - Nazneen Rahman, N Hateboer, C Gumbs, G Coles, D Ravine, A Futreal

6.51 Identification of novel SNPs in cocaine amphetamine regulated transcript (CART) gene: a candidate gene for anorexia nervosa or obesity. - Kirsty M O Brown, H Eastwood, N Bodsworth, DA Campbell, LF Pieri

6.52 Localisation of the gene for Distal Hereditary Motor Neuronopathy-VII to chromosome 2 - Meriel McEntagart, N Norton, H Williams, H Houlden, M Donaghy, E Boltshauser, PS Harper, N Williams, N Rahman

6.53 SOX10 gene deletion in a family with Waardenburg-Shah syndrome - Huw Dorkins, V Pingault, Hugh Grant, Michel Goosens, Cyril Chapman

6.54 Development of a high throughput SNP discovery pipeline for the discovery of complex disease genes. - Abigail Handley, P Skelding

6.55 Spectrum of mutations in the AIRE1 gene in UK APS1 (APECED) kindreds - Karen Adamson, P Kendall-Taylor, TD Cheetham, SHS Pearce

6.56 Quantitative Analysis of RNA from Patients with Myotonic Dystrophy Type-1 using Multiplex Amplifiable Probe Hybridisation (R-MAPH) - Andrew James Gibb, JA Armour, MG Hamshere

6.57 Analysis of the RB1 gene by DHPLC - Dot Mechan

6.58 Copy number analysis by multiplex amplifiable probe hybridization - John Armour

 

8.01 Analysis of the promoter of the transcription factor TBX5 - Stephen Cross, AJ Bonser, TK Ghosh, EA Packham, JD Brook

8.02 A mouse model of Snrpn imprinting. - Martin Smith, DA Carter

8.03 Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein - Dorothy Trump, C Grayson, SNM Reid, A Rutherford, JA Ellis, JC Sowden, DB Farber, JRW Yates

8.04 DNA copy number analysis at the TBX5 gene - Seyed Mohammad Akrami, RM Winter, JD Brook, JAL Armour

8.05 Genetic and functional analysis of the VHL tumour suppressor gene promoter - Catherine Morrissey, M Zatyka, F Latif, F Richards, E Maher