Current Issue

Volume 77 Issue 2 (February 2010)

Perspectives

Direct-to-consumer genetic testing: good, bad or benign? (p 101-105)
T Caulfield, NM Ries, PN Ray, C Shuman, B Wilson
Published Online: Nov 23 2009 9:41PM
DOI: 10.1111/j.1399-0004.2009.01291.x

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Commentary

Genetics in Hollywood: from real to reel^* (p 106-111)
Wayne W. Grody
Published Online: Jan 11 2010 11:05PM
DOI: 10.1111/j.1399-0004.2009.01343.x

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HotSpots

Same pathway, different gene: a second gene in the heme biosynthesis pathway causes inherited sideroblastic anemia (p 112-113)
TL Petkau
Published Online: Nov 11 2009 5:40AM
DOI: 10.1111/j.1399-0004.2009.01302.x

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X-linked myopathy: when autophagy goes wrong (p 114-115)
G Mazarei
Published Online: Nov 11 2009 5:41AM
DOI: 10.1111/j.1399-0004.2009.01303.x

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Mystery behind Bowen–Conradi syndrome solved: a novel ribosome biogenesis defect (p 116-118)
RAG De Souza
Published Online: Jan 11 2010 11:05PM
DOI: 10.1111/j.1399-0004.2009.01304.x

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Original Articles

Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis (p 119-130)
M Griese, F Brasch, VR Aldana, MM Cabrera, U Goelnitz, E Ikonen, BJ Karam, G Liebisch, MD Linder, P Lohse, W Meyer, G Schmitz, A Pamir, J Ripper, A Rolfs, A Schams, FJ Lezana
Published Online: Dec 10 2009 8:37PM
DOI: 10.1111/j.1399-0004.2009.01325.x

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Does geographical location influence the phenotype of Fabry disease in women in Europe? (p 131-140)
M-Á Barba-Romero, P Deegan, R Giugliani, D Hughes
Published Online: Jan 11 2010 11:05PM
DOI: 10.1111/j.1399-0004.2009.01345.x

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A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome (p 141-144)
M Badura-Stronka, A Jamsheer, A Materna-Kiryluk, A Sowińska, K Kiryluk, B Budny, A Latos-Bieleńska
Published Online: Dec 10 2009 8:36PM
DOI: 10.1111/j.1399-0004.2009.01331.x

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Short Reports

Detailed molecular and clinical characterization of three patients with 21q deletions (p 145-154)
A Lindstrand, H Malmgren, S Sahlén, J Schoumans, A Nordgren, U Ergander, E Holm, BM Anderlid, E Blennow
Published Online: Oct 23 2009 3:39AM
DOI: 10.1111/j.1399-0004.2009.01289.x

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Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome (p 155-162)
Y Yu, C Xu, X Pan, H Ren, W Wang, X Meng, F Huang, N Chen
Published Online: Oct 6 2009 8:12AM
DOI: 10.1111/j.1399-0004.2009.01288.x

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Further genotype – phenotype correlations in neurofibromatosis 2 (p 163-170)
SK Selvanathan, A Shenton, R Ferner, AJ Wallace, SM Huson, RT Ramsden, DG Evans
Published Online: Nov 23 2009 9:57PM
DOI: 10.1111/j.1399-0004.2009.01315.x

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Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients (p 171-176)
DR Carvalho, MMM Navarro, BJAF Martins, KEFA Coelho, WD Mello, RI Takata, CE Speck-Martins
Published Online: Oct 1 2009 4:19AM
DOI: 10.1111/j.1399-0004.2009.01256.x

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Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation (p 177-182)
E-H Yoo, H Woo, C-S Ki, HJ Lee, D-K Kim, I-S Kang, P Park, K Sung, CS Lee, T-Y Chung, JR Moon, H Han, S-T Lee, J-W Kim
Published Online: Oct 23 2009 3:39AM
DOI: 10.1111/j.1399-0004.2009.01287.x

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DJ-1 is a Parkinson's disease susceptibility gene in southern Italy (p 183-188)
EV De Marco, G Annesi, P Tarantino, G Nicoletti, D Civitelli, D Messina, F Annesi, G Arabia, M Salsone, F Condino, F Novellino, G Provenzano, FE Rocca, C Colica, M Morelli, V Scornaienchi, V Greco, L Giofrè, A Quattrone
Published Online: Nov 23 2009 9:57PM
DOI: 10.1111/j.1399-0004.2009.01310.x

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Letters to the Editor

Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension (p 189-192)
H Wang, Q-Q Cui, K Sun, L Song, Y-B Zou, X-J Wang, L Jia, X Liu, S Gao, C-N Zhang, R-T Hui
Published Online: Dec 10 2009 3:59AM
DOI: 10.1111/j.1399-0004.2009.01335.x

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Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN (p 193-196)
A Blanco, B Graña, L Fachal, M Santamariña, J Cameselle-Teijeiro, C Ruíz-Ponte, Á Carracedo, A Vega
Published Online: Nov 23 2009 4:53AM
DOI: 10.1111/j.1399-0004.2009.01309.x

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Genetic mutation in pontocerebellar hypoplasia (p 197-199)
AJ Ajibola, SA Omar, KH Friderici
Published Online: Oct 6 2009 8:11AM
DOI: 10.1111/j.1399-0004.2009.01283.x

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