Journal of Medical Genetics: 41 (4)

Electronic letters

DBH gene variants that cause low plasma dopamine β hydroxylase with or without a severe orthostatic syndrome (1 April, 2004) Free
J Deinum, G C H Steenbergen-Spanjers, M Jansen, F Boomsma, J W M Lenders, F J van Ittersum, N Hück, L P van den Heuvel, R A Wevers
Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes (1 April, 2004) Free
R Bergholdt, P Ghandil, J Johannesen, O P Kristiansen, I Kockum, H Luthman, K S Rønningen, J Nerup, C Julier, F Pociot
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients (1 April, 2004) Free
A Rauch, K Devriendt, A Koch, R Rauch, M Gewillig, C Kraus, M Weyand, H Singer, A Reis, M Hofbeck
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees (1 April, 2004) Free
P Y W Man, N Howell, D A Mackey, S Nørby, T Rosenberg, D M Turnbull, P F Chinnery
A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders (1 April, 2004) Free
M Hesse, T Berg, B Wiedenmann, U Spengler, R P Woitas, T M Magin
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome (1 April, 2004) Free
F Tassone, R J Hagerman, D Garcia-Arocena, E W Khandjian, C M Greco, P J Hagerman
Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes (1 April, 2004) Free
J Balmaña, E M Stoffel, K M Emmons, J E Garber, S Syngal
Robust fragile X (CGG)_n genotype classification using a methylation specific triple PCR assay (1 April, 2004) Free
Y Zhou, H-Y Law, C D Boehm, C-S Yoon, G R Cutting, I S L Ng, S S Chong
FRG1P is localised in the nucleolus, Cajal bodies, and speckles (1 April, 2004) Free
S van Koningsbruggen, R W Dirks, A M Mommaas, J J Onderwater, G Deidda, G W Padberg, R R Frants, S M van der Maarel
Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal (1 April, 2004) Free
R Pop, C Conz, K S Lindenberg, S Blesson, B Schmalenberger, S Briault, D Pfeifer, G Scherer

Online mutation reports

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain (1 April, 2004) Free
C Mattocks, D Baralle, P Tarpey, C ffrench-Constant, M Bobrow, J Whittaker
Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1 (1 April, 2004) Free
H Donninger, T J Cashmore, T Scriba, D C Petersen, E Janse van Rensburg, V M Hayes
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients (1 April, 2004) Free
M C Walter, J A Petersen, R Stucka, D Fischer, R Schröder, M Vorgerd, A Schroers, H Schreiber, C O Hanemann, U Knirsch, A Rosenbohm, A Huebner, N Barisic, R Horvath, S Komoly, P Reilich, W Müller-Felber, D Pongratz, J S Müller, E A Auerswald, H Lochmüller
Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy (1 April, 2004) Free
H Ohmori, Y Ando, Y Makita, Y Onouchi, T Nakajima, M J M Saraiva, H Terazaki, O Suhr, G Sobue, M Nakamura, M Yamaizumi, M Munar-Ques, I Inoue, M Uchino, A Hata
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III (1 April, 2004) Free
A Raas-Rothschild, R Bargal, O Goldman, E Ben-Asher, J E M Groener, A Toutain, E Stemmer, Z Ben-Neriah, H Flusser, F A Beemer, M Penttinen, T Olender, A J J T Rein, G Bach, M Zeigler

Original articles

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features (1 April, 2004) Free
C Shaw-Smith, R Redon, L Rickman, M Rio, L Willatt, H Fiegler, H Firth, D Sanlaville, R Winter, L Colleaux, M Bobrow, N P Carter
Genomic imbalances in mental retardation (1 April, 2004) Free
M Kriek, S J White, M C Bouma, H G Dauwerse, K B M Hansson, J V Nijhuis, B Bakker, G-J B van Ommen, J T den Dunnen, M H Breuning
Gene–gene interaction in folate-related genes and risk of neural tube defects in a UK population (1 April, 2004) Free
C L Relton, C S Wilding, M S Pearce, A J Laffling, P A Jonas, S A Lynch, E J Tawn, J Burn
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer’s disease (1 April, 2004) Free
K J H Robson, D J Lehmann, V L C Wimhurst, K J Livesey, M Combrinck, A T Merryweather-Clarke, D R Warden, A D Smith

Echoes

DJ-1 mutations in Parkinson’s disease (1 April, 2004) Free
D G Healy, P M Abou-Sleiman, E M Valente, W P Gilks, K Bhatia, N Quinn, A J Lees, N W Wood
Transforming growth factor-β₁ genotype and susceptibility to chronic obstructive pulmonary disease (1 April, 2004) Free
L Wu, J Chau, R P Young, V Pokorny, G D Mills, R Hopkins, L McLean, P N Black
Modifier genes and familial adenomatous polyposis coli (1 April, 2004) Free

Short reports

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14 (1 April, 2004) Free
C Steiner, N Ehtesham, K D Taylor, E Sebald, R Cantor, L M King, X Guo, T Hang, M S Hu, J-R Cui, B Friedman, D Norato, J Allanson, C Honeywell, G Mettler, F Field, R Lachman, D H Cohn, D Krakow
Absence of BRAF mutations in UV-protected mucosal melanomas (1 April, 2004) Free
R H Edwards, M R Ward, H Wu, C A Medina, M S Brose, P Volpe, S Nussen-Lee, H M Haupt, A M Martin, M Herlyn, S R Lessin, B L Weber
Homozygosity mapping of a third Joubert syndrome locus to 6q23 (1 April, 2004) Free
C Lagier-Tourenne, E Boltshauser, N Breivik, M Gribaa, C Bétard, C Barbot, M Koenig

Letters to JMG

Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations (1 April, 2004) Free
F Marroni, P Aretini, E D’Andrea, M A Caligo, L Cortesi, A Viel, E Ricevuto, M Montagna, G Cipollini, S Ferrari, M Santarosa, R Bisegna, J E Bailey-Wilson, G Bevilacqua, G Parmigiani, S Presciuttini
No association between a previously reported OLR1 3′ UTR polymorphism and Alzheimer’s disease in a large family sample (1 April, 2004) Free
L Bertram, M Parkinson, K Mullin, R Menon, D Blacker, R E Tanzi
Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism (1 April, 2004) Free
H Masuzaki, K Miura, K-i Yoshiura, S Yoshimura, N Niikawa, T Ishimaru
Mitochondrial DNA haplogroups influence the Friedreich’s ataxia phenotype (1 April, 2004) Free
M Giacchetti, A Monticelli, I De Biase, L Pianese, M Turano, A Filla, G De Michele, S Cocozza
Primary open angle glaucoma is associated with a specific p53 gene haplotype (1 April, 2004) Free
T Ressiniotis, P G Griffiths, M Birch, S Keers, P F Chinnery
Isolated congenital anosmia locus maps to 18p11.23-q12.2 (1 April, 2004) Free
M Ghadami, S Morovvati, K Majidzadeh-A, E Damavandi, G Nishimura, A Kinoshita, P Pasalar, K Komatsu, M T Najafi, N Niikawa, K Yoshiura
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes (1 April, 2004) Free
A B Csoka, H Cao, P J Sammak, D Constantinescu, G P Schatten, R A Hegele
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6) (1 April, 2004) Free
S A Mohiddin, Z M Ahmed, A J Griffith, D Tripodi, T B Friedman, L Fananapazir, R J Morell
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 (1 April, 2004) Free
A L Nishimura, M Mitne-Neto, H C A Silva, J R M Oliveira, M Vainzof, M Zatz

Correction

CORRECTION (1 April, 2004) Free

Main menu

Table of contents

April 2004 - Volume 41 - 4

Electronic letters

Online mutation reports

Original articles

Echoes

Short reports

Letters to JMG

Correction

Issue Information

Log in using your username and password

Main menu

Log in using your username and password

You are here

Table of contents

April 2004 - Volume 41 - 4

Electronic letters

Online mutation reports

Original articles

Echoes

Short reports

Letters to JMG

Correction

Issue Information