Journal of Medical Genetics: 42 (2)

Correspondence

Non-random transmission of mutant alleles to female offspring in BRCA carriers (2 February, 2005)
D G Evans, A Shenton, S Sharif, E Woodward, F Lalloo, E R Maher
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese (2 February, 2005)
H W Hwang, J J Chen, Y J Lin, R C Shieh, M T Lee, S I Hung, J Y Wu, Y T Chen, D M Niu, B T Hwang
Author’s reply: link of SCN5A SNP R1193Q to long QT syndrome
(2 February, 2005)
Q Wang

Electronic letters

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders (2 February, 2005)
M Castori, E M Valente, M A Donati, S Salvi, E Fazzi, E Procopio, T Galluccio, F Emma, B Dallapiccola, E Bertini
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy
(2 February, 2005)
J Bond, K Flintoff, J Higgins, S Scott, C Bennet, J Parsons, J Mannon, H Jafri, Y Rashid, M Barrow, R Trembath, G Woodruff, E Rossa, S Lynch, J Sheilds, R Newbury-Ecob, A Falconer, P Holland, D Cockburn, G Karbani, S Malik, M Ahmed, E Roberts, G Taylor, C G Woods
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome (2 February, 2005)
J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, A Slavotinek
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
(2 February, 2005)
M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen

Online mutation reports

Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect (2 February, 2005)
P Brouillard, M Ghassibé, A Penington, L M Boon, A Dompmartin, I K Temple, M Cordisco, D Adams, F Piette, J I Harper, S Syed, F Boralevi, A Taïeb, S Danda, E Baselga, O Enjolras, J B Mulliken, M Vikkula
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? (2 February, 2005)
S Jacquemont, A Orrico, L Galli, P K Sahota, J A Brunberg, C Anichini, M Leehey, S Schaeffer, R J Hagerman, P J Hagerman, F Tassone
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
(2 February, 2005)
R E Amir, P Fang, Z Yu, D G Glaze, A K Percy, H Y Zoghbi, B B Roa, I B Van den Veyver
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors (2 February, 2005)
A Sarkozy, E Conti, C Neri, R D’Agostino, M C Digilio, G Esposito, A Toscano, B Marino, A Pizzuti, B Dallapiccola
Mutational spectrum of NSDHL in CHILD syndrome
(2 February, 2005)
D Bornholdt, A König, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, A Poiares Baptista, É Grosshans, P Vabres, S Niiyama, K Sasaoka, T Tanaka, A L Meiss, P A Treadwell, D Lambert, F Camacho, K-H Grzeschik

Editorial

The Journal of medical genetics and open access publishing: to choose or not to choose?
(2 February, 2005) Free
Eamonn R Maher

Review

Milroy disease and the VEGFR-3 mutation phenotype
(2 February, 2005)
G Brice, A H Child, A Evans, R Bell, S Mansour, K Burnand, M Sarfarazi, S Jeffery, P Mortimer

Original articles

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms (2 February, 2005)
E Scala, F Ariani, F Mari, R Caselli, C Pescucci, I Longo, I Meloni, D Giachino, M Bruttini, G Hayek, M Zappella, A Renieri
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy (2 February, 2005)
A K Lampe, D M Dunn, A C von Niederhausern, C Hamil, A Aoyagi, S H Laval, S K Marie, M-L Chu, K Swoboda, F Muntoni, C G Bonnemann, K M Flanigan, K M D Bushby, R B Weiss
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations (2 February, 2005)
C Le Caignec, M Boceno, P Saugier-Veber, S Jacquemont, M Joubert, A David, T Frebourg, J M Rival
Functional interaction between APOE4 and LDL receptor isoforms in Alzheimer’s disease (2 February, 2005)
D Cheng, R Huang, I S Lanham, H M Cathcart, M Howard, E H Corder, S E Poduslo
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects (2 February, 2005)
J A Lamb, G Barnby, E Bonora, N Sykes, E Bacchelli, F Blasi, E Maestrini, J Broxholme, J Tzenova, D Weeks, A J Bailey, A P Monaco
Classification of BRCA1 missense variants of unknown clinical significance
(2 February, 2005)
C M Phelan, V Đapić, B Tice, R Favis, E Kwan, F Barany, S Manoukian, P Radice, R B van der Luijt, B P M van Nesselrooij, G Chenevix-Trench, T Caldes, M de La Hoya, S Lindquist, S V Tavtigian, D Goldgar, Å Borg, S A Narod, A N A Monteiro

Letters to JMG

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour
(2 February, 2005)
S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman
Mapping of psoriasis to 17q terminus (2 February, 2005)
W-L Hwu, C-F Yang, C S J Fann, C-L Chen, T-F Tsai, Y-H Chien, S-C Chiang, C-H Chen, S-I Hung, J-Y Wu, Y-T Chen
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
(2 February, 2005)
S P Pryor, A C Madeo, J C Reynolds, N J Sarlis, K S Arnos, W E Nance, Y Yang, C K Zalewski, C C Brewer, J A Butman, A J Griffith
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome? (2 February, 2005)
R Redon, M Rio, S G Gregory, R A Cooper, H Fiegler, D Sanlaville, R Banerjee, C Scott, P Carr, C Langford, V Cormier-Daire, A Munnich, N P Carter, L Colleaux
Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population
(2 February, 2005)
Y He, G Zhou, Y Zhai, X Dong, L Lv, F He, K Yao
A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families (2 February, 2005)
H Koillinen, P Lahermo, J Rautio, J Hukki, M Peyrard-Janvid, J Kere
Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis
(2 February, 2005)
S Aretz, D Stienen, S Uhlhaas, C Pagenstecher, E Mangold, R Caspari, P Propping, W Friedl

Echoes

Polymorphisms in neprilysin gene affect the risk of Alzheimer’s disease in Finnish patients (2 February, 2005)
S Helisalmi, M Hiltunen, S Vepsäläinen, S Iivonen, A Mannermaa, M Lehtovirta, A M Koivisto, I Alafuzoff, H Soininen

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Table of contents

February 2005 - Volume 42 - 2

Correspondence

Electronic letters

Online mutation reports

Editorial

Review

Original articles

Letters to JMG

Echoes

Issue Information

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Table of contents

February 2005 - Volume 42 - 2

Correspondence

Electronic letters

Online mutation reports

Editorial

Review

Original articles

Letters to JMG

Echoes

Issue Information