Molecular genetics

Citations 11-20 of 943 total displayed.

Letters to JMG
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy

Y Bacq, C Gendrot, F Perrotin, L Lefrou, S Chrétien, V Vie-Buret, M-C Brechot, C R Andres
J. Med. Genet. 2009 46: 711 -715; published online before print as 10.1136/jmg.2009.067397 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1GA mutations in introns of the dystrophin gene

Y Habara, Y Takeshima, H Awano, Y Okizuka, Z Zhang, K Saiki, M Yagi, M Matsuo
J. Med. Genet. 2009 46: 542 -547; published online before print as 10.1136/jmg.2008.061259 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia

E Pauws, G E Moore, P Stanier
J. Med. Genet. 2009; 46: 555-561. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

T Furuichi, H Kayserili, S Hiraoka, G Nishimura, H Ohashi, Y Alanay, J C Lerena, A D Aslanger, H Koseki, D H Cohn, A Superti-Furga, S Unger, S Ikegawa
J. Med. Genet. 2009 46: 562 -568; published online before print as 10.1136/jmg.2008.065201 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]  

Original articles
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

G Spurlock, E Bennett, N Chuzhanova, N Thomas, H-Ping Jim, L Side, S Davies, E Haan, B Kerr, S M Huson, M Upadhyaya
J. Med. Genet. 2009 46: 431 -437; published online before print as 10.1136/jmg.2008.065474 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors

M Futter, H Diekmann, E Schoenmakers, O Sadiq, K Chatterjee, D C Rubinsztein
J. Med. Genet. 2009 46: 438 -446; published online before print as 10.1136/jmg.2009.066399 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome

M-A Dragon-Durey, C Blanc, F Marliot, C Loirat, J Blouin, C Sautes-Fridman, W H Fridman, V Frémeaux-Bacchi
J. Med. Genet. 2009 46: 447 -450; published online before print as 10.1136/jmg.2008.064766 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
New surfactant protein C gene mutations associated with diffuse lung disease

L Guillot, R Epaud, G Thouvenin, L Jonard, A Mohsni, R Couderc, F Counil, J de Blic, R A Taam, M Le Bourgeois, P Reix, F Flamein, A Clement, D Feldmann
J. Med. Genet. 2009 46: 490 -494; published online before print as 10.1136/jmg.2009.066829 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Genetics of microtia and associated syndromes

F Alasti, G Van Camp
J. Med. Genet. 2009 46: 361 -369; published online before print as 10.1136/jmg.2008.062158 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Large scale replication analysis of loci associated with lipid concentrations in a Japanese population

K Nakayama, T Bayasgalan, K Yamanaka, M Kumada, T Gotoh, N Utsumi, Y Yanagisawa, M Okayama, E Kajii, S Ishibashi, S Iwamoto, The Jichi Community Genetics Team (JCOG)
J. Med. Genet. 2009 46: 370 -374; published online before print as 10.1136/jmg.2008.064063 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendices ]