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)
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)
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

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Table of contents

April 2004 - Volume 41 - 4

Electronic letters

Online mutation reports

Original articles

Echoes

Short reports

Letters to JMG

Correction

Issue Information

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Table of contents

April 2004 - Volume 41 - 4

Electronic letters

Online mutation reports

Original articles

Echoes

Short reports

Letters to JMG

Correction

Issue Information