Ethics

Citations 1-10 of 200 total displayed.

Original articles
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
J. Med. Genet. 2007 44: 750 -762; published online before print as 10.1136/jmg.2007.052787 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Letters to JMG
Should healthcare providers have a duty to warn family members of individuals with an HNPCC-causing mutation? A survey of patients from the Ontario Familial Colon Cancer Registry

Kelly Kohut, Michael Manno, Steven Gallinger, Mary Jane Esplen
J. Med. Genet. 2007; 44: 404-407. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women

B G Haffty, A Silber, E Matloff, J Chung, D Lannin
J. Med. Genet. 2006 43: 133 -137; published online before print as 10.1136/jmg.2005.034744 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

HG Kim, S R Herrick, E Lemyre, S Kishikawa, J A Salisz, S Seminara, M E MacDonald, G A P Bruns, C C Morton, B J Quade, J F Gusella
J. Med. Genet. 2005; 42: 666-672. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
A genome screen of families at high risk for Hodgkin lymphoma: evidence for a susceptibility gene on chromosome 4

L R Goldin, M L McMaster, M Ter-Minassian, S Saddlemire, B Harmsen, G Lalonde, M A Tucker
J. Med. Genet. 2005; 42: 595-601. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Sex ratio skewing of offspring in families with hereditary susceptibility to breast cancer

S M Domchek, S L Merillat, J Tigges, A J Tweed, M Weinar, J Stopfer, B L Weber
J. Med. Genet. 2005; 42: 511-513. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
CBP truncating mutations in ovarian cancer

R Ward, M Johnson, V Shridhar, J van Deursen, F J Couch
J. Med. Genet. 2005; 42: 514-518. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study

D Lambrechts, K Devriendt, D A Driscoll, E Goldmuntz, M Gewillig, R Vlietinck, D Collen, P Carmeliet
J. Med. Genet. 2005; 42: 519-522. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

V Schumacher, T Vogel, B Leube, C Driemel, T Goecke, G Möslein, B Royer-Pokora
J. Med. Genet. 2005; 42: 428-435. [Extract] [Full text] [PDF] [Request Permissions] [ Web-only figure ]  

Letters to JMG
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

S A Yatsenko, S W Cheung, D A Scott, M J M Nowaczyk, M Tarnopolsky, S Naidu, G Bibat, A Patel, J G Leroy, F Scaglia, P Stankiewicz, J R Lupski
J. Med. Genet. 2005; 42: 328-335. [Extract] [Full text] [PDF] [Request Permissions]