JMG Online mutation reports

Citations 1-10 of 165 total displayed.

Mutation report
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

R Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, V Tiranti
J. Med. Genet. 2008; 45: 473-478. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness

K Nozu, T Inagaki, X J Fu, Y Nozu, H Kaito, K Kanda, T Sekine, T Igarashi, K Nakanishi, N Yoshikawa, K Iijima, M Matsuo
J. Med. Genet. 2008; 45: 182-186. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, B Tümmler
J. Med. Genet. 2008; 45: 47-54. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

H A L Tuppen, F Fattori, R Carrozzo, M Zeviani, S DiMauro, S Seneca, J E Martindale, S E Olpin, E P Treacy, R McFarland, F M Santorelli, R W Taylor
J. Med. Genet. 2008; 45: 55-61. [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

A De Luca, I Bottillo, M C Dasdia, A Morella, V Lanari, L Bernardini, L Divona, S Giustini, L Sinibaldi, A Novelli, I Torrente, A Schirinzi, B Dallapiccola
J. Med. Genet. 2007; 44: 800-808. [Abstract] [Full text] [PDF] [Request Permissions] [ web only table ]  

Online mutation report
The T/G–13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population

F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, I Järvelä
J. Med. Genet. 2007; 44: e89. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation report
New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand

Angelika Lüdtke, Janine Buettner, Hartmut H-J Schmidt, Howard J Worman
J. Med. Genet. 2007; 44: e88. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

Richard H Scott, Tessa Homfray, Nicola L Huxter, Sally G Mitton, Ruth Nash, Mike N Potter, Donna Lancaster, Nazneen Rahman
J. Med. Genet. 2007; 44: e83. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features

Oddmund Søvik, Suzanne Schubbert, Gunnar Houge, Solrun J Steine, Gunnar Norgård, Bernt Engelsen, Pål R Njølstad, Kevin Shannon, Anders Molven
J. Med. Genet. 2007; 44: e84. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

Surya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, Chitra Kannabiran
J. Med. Genet. 2007; 44: e85. [Abstract] [Full text] [PDF] [Request Permissions]