Clinical genetics

Citations 11-20 of 204 total displayed.

Original articles
Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

L Ocaka, C Zhao, J A Reed, N D Ebenezer, G Brice, T Morley, M Mehta, J O’Dowd, J L Weber, A J Hardcastle, A H Child
J. Med. Genet. 2008 45: 87 -92; published online before print as 10.1136/jmg.2007.051896 [Abstract] [Full text] [PDF] [Request Permissions] [ web only figures ]  

Review
Hirschsprung disease, associated syndromes and genetics: a review

J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, A S Brooks, G Antinolo, L de Pontual, M Clement-Ziza, A Munnich, C Kashuk, K West, K K-Y Wong, S Lyonnet, A Chakravarti, P K-H Tam, I Ceccherini, R M W Hofstra, R Fernandez, for the Hirschsprung Disease Consortium
J. Med. Genet. 2008 45: 1 -14; published online before print as 10.1136/jmg.2007.053959 [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]  

Original articles
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Caroline Nava, Nadine Hanna, Caroline Michot, Sabrina Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Benoit Arveiler, Didier Lacombe, Eric Pasmant, Béatrice Parfait, Clarisse Baumann, Delphine Héron, Sabine Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloes, Hélène Cavé
J. Med. Genet. 2007 44: 763 -771; published online before print as 10.1136/jmg.2007.050450 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Stability of the m.8993TG mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

J Steffann, N Gigarel, J Corcos, M Bonnière, F Encha-Razavi, M Sinico, S Prevot, Y Dumez, A Yamgnane, R Frydman, A Munnich, J P Bonnefont
J. Med. Genet. 2007 44: 664 -669; published online before print as 10.1136/jmg.2006.048553 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network

José Antonio Casado, Elsa Callén, Ariana Jacome, Paula Río, Maria Castella, Stephan Lobitz, Teresa Ferro, Arturo Muñoz, Julián Sevilla, Ángeles Cantalejo, Elena Cela, José Cervera, Jesús Sánchez-Calero, Isabel Badell, Jesús Estella, Ángeles Dasí, Teresa Olivé, Juan José Ortega, Antonia Rodriguez-Villa, María Tapia, Antonio Molinés, Luis Madero, José C Segovia, Kornelia Neveling, Reinhard Kalb, Detlev Schindler, Helmut Hanenberg, Jordi Surrallés, Juan A Bueren
J. Med. Genet. 2007 44: 241 -249; published online before print as 10.1136/jmg.2006.044719 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

Jacinta Bustamante, Capucine Picard, Claire Fieschi, Orchidée Filipe-Santos, Jacqueline Feinberg, Christian Perronne, Ariane Chapgier, Ludovic de Beaucoudrey, Guillaume Vogt, Damien Sanlaville, Arnaud Lemainque, Jean-François Emile, Laurent Abel, Jean-Laurent Casanova
J. Med. Genet. 2007; 44: e65. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Martin Zenker, Katarina Lehmann, Anna Leana Schulz, Helmut Barth, Dagmar Hansmann, Rainer Koenig, Rudolf Korinthenberg, Martina Kreiss-Nachtsheim, Peter Meinecke, Susanne Morlot, Stefan Mundlos, Anne S Quante, Salmo Raskin, Dirk Schnabel, Lars-Erik Wehner, Christian P Kratz, Denise Horn, Kerstin Kutsche
J. Med. Genet. 2007 44: 131 -135; published online before print as 10.1136/jmg.2006.046300 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Genomewide scans of red cell indices suggest linkage on chromosome 6q23

A Iliadou, D M Evans, G Zhu, D L Duffy, I H Frazer, G W Montgomery, N G Martin
J. Med. Genet. 2007 44: 24 -30; published online before print as 10.1136/jmg.2006.043521 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family

Z Yang, G Kitsos, Z Tong, M Payne, S Gorezis, K Psilas, M Grigoriadou, Y Zhao, S Kamaya, G Aperis, M B Petersen, K Zhang
J. Med. Genet. 2006; 43: e57. [Abstract] [Full text] [PDF] [Request Permissions]