Open access

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

10.1136/jmg.2007.053785

November 30, 2007

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

E Rossi, M Riegel, J Messa, S Gimelli, P Maraschio, R Ciccone, M Stroppi, P Riva, C S Perrotta, T Mattina, L Memo, A Baumer, V Kucinskas, C Castellan, A Schinzel, O Zuffardi

10.1136/jmg.2007.054007

November 15, 2007

General mutation databases: analysis and review

R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, R G H Cotton

10.1136/jmg.2007.052639

September 24, 2007

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, F Novara, A Vetro, E Rossi, P Maraschio, M C Bonaglia, C Anichini, G B Ferrero, M Silengo, E Fazzi, A Zatterale, R Fischetto, C Previderé, S Belli, A Turci, G Calabrese, F Bernardi, E Meneghelli, M Riegel, M Rocchi, S Guerneri, F Lalatta, L Zelante, C Romano, M Fichera, T Mattina, G Arrigo, M Zollino, S Giglio, F Lonardo, A Bonfante, A Ferlini, F Cifuentes, H Van Esch, L Backx, A Schinzel, J R Vermeesch, O Zuffardi

10.1136/jmg.2007.052787

August 31, 2007

Germline E-cadherin mutations in familial lobular breast cancer

S Masciari, N Larsson, J Senz, N Boyd, P Kaurah, M J Kandel, L N Harris, H C Pinheiro, A Troussard, P Miron, N Tung, C Oliveira, L Collins, S Schnitt, J E Garber, D Huntsman

10.1136/jmg.2007.051268

July 27, 2007

A genome-wide scan for genes involved in primary vesicoureteric reflux

H Kelly, C M Molony, J M Darlow, M E Pirker, A Yoneda, A J Green, P Puri, D E Barton

10.1136/jmg.2007.051086

July 27, 2007

Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease

C M Lewis, S C L Whitwell, A Forbes, J Sanderson, C G Mathew, T M Marteau

10.1136/jmg.2007.051672

July 27, 2007

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Damien Sanlaville, David Genevieve, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, Jean-Pierre Fryns, Joris R Vermeesch

10.1136/jmg.2007.049510

June 23, 2007

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

D Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin-Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister, C Hartzell, M Abitbol

10.1136/jmg.2006.044511

February 7, 2007

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Gudrun Rappold, Werner F Blum, Elena P Shavrikova, Brenda J Crowe, Ralph Roeth, Charmian A Quigley, Judith L Ross, Beate Niesler

10.1136/jmg.2006.046581

December 20, 2006