DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia
Failly, Mike, Saitta, Alexandra, Muñoz, Analia, Falconnet, Emilie, Rossier, Colette, Santamaria, Francesca, de Santi, Maria Margherita, Lazor, Romain, DeLozier-Blanchet, Celia D., Bartoloni, Lucia, Blouin, Jean-Louis
Published in Respiration (01.01.2008)
Published in Respiration (01.01.2008)
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Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia
Bartoloni, Lucia, Blouin, Jean-Louis, Pan, Yanzhen, Gehrig, Corinne, Maiti, Amit K., Scamuffa, Nathalie, Rossier, Colette, Jorissen, Mark, Armengot, Miguel, Meeks, Maggie, Mitchison, Hannah M., Eddie M. K. Chung, Delozier-Blanchet, Celia D., Craigen, William J., Antonarakis, Stylianos E.
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2002)
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A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer)
Hinduja, Sanjay, DeLozier, Celia D, Knezevich, Stevan R, Silveira, William R, Zhu, Viola W
Published in Clinical neurology and neurosurgery (01.07.2017)
Published in Clinical neurology and neurosurgery (01.07.2017)
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Journal Article
Non-disjunction of chromosome 13
Bugge, Merete, Collins, Andrew, Hertz, Jens Michael, Eiberg, Hans, Lundsteen, Claes, Brandt, Carsten A., Bak, Mads, Hansen, Claus, deLozier, Celia D., Lespinasse, James, Tranebjaerg, Lisbeth, Hahnemann, Johanne M.D., Rasmussen, Kirsten, Bruun-Petersen, Gert, Duprez, Laurence, Tommerup, Niels, Petersen, Michael B.
Published in Human molecular genetics (15.08.2007)
Published in Human molecular genetics (15.08.2007)
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Double frameshift mutations in APC and MSH2 in the same individual
Soravia, Claudio, Delozier, Celia D., Dobbie, Zuzana, Berthod, Claudine Rey, Arrigoni, Eviano, Bründler, Marie-Anne, Blouin, Jean-Louis, Foulkes, William D., Hutter, Pierre
Published in International journal of colorectal disease (01.03.2007)
Published in International journal of colorectal disease (01.03.2007)
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Journal Article
Double frameshift mutations in APC and MSH2 in the same individual
SORAVIA, Claudio, DELOZIER, Celia D, DOBBIE, Zuzana, BERTHOD, Claudine Rey, ARRIGONI, Eviano, BRÜNDLER, Marie-Anne, BLOUIN, Jean-Louis, FOULKES, William D, HUTTER, Pierre
Published in International journal of colorectal disease (01.09.2005)
Published in International journal of colorectal disease (01.09.2005)
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Journal Article
Double frameshift mutations in APC and MSH2 in the same individual
SORAVIA, Claudio, DELOZIER, Celia D, DOBBIE, Zuzana, BERTHOD, Claudine Rey, ARRIGONI, Eviano, BRÜNDLER, Marie-Anne, BLOUIN, Jean-Louis, FOULKES, William D, HUTTER, Pierre
Published in International journal of colorectal disease (2006)
Published in International journal of colorectal disease (2006)
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Journal Article
Axonemal Beta Heavy Chain Dynein DNAH9: cDNA Sequence, Genomic Structure, and Investigation of Its Role in Primary Ciliary Dyskinesia
Bartoloni, Lucia, Blouin, Jean-Louis, Maiti, Amit K., Sainsbury, Amanda, Rossier, Colette, Gehrig, Corinne, She, Jin-Xiong, Marron, Michele P., Lander, Eric S., Meeks, Maggie, Chung, Eddie, Armengot, Miquel, Jorissen, Mark, Scott, Hamish S., Delozier-Blanchet, Celia D., Gardiner, R.Marc, Antonarakis, Stylianos E.
Published in Genomics (San Diego, Calif.) (15.02.2001)
Published in Genomics (San Diego, Calif.) (15.02.2001)
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Journal Article
Cytogenetic studies of human testicular germ cell tumours
Delozier-Blanchet, C D, Walt, H, Engel, E, Vuagnat, P
Published in International journal of andrology (01.02.1987)
Published in International journal of andrology (01.02.1987)
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Journal Article
MEHMO, a novel syndrome: assignment of disease locus to Xp21.1–p22.13
DeLozier-Blanchet, Célia D, Haenggeli, Charles-Antoine, Bottani, Armand
Published in European journal of human genetics : EJHG (01.09.1999)
Published in European journal of human genetics : EJHG (01.09.1999)
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Journal Article
Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq
Xiang, F, Zhang, Z, Clarke, A, Joseluiz, P, Sakkubai, N, Sarojini, B, Delozier-Blanchet, C D, Hansmann, I, Edström, L, Anvret, M
Published in Journal of medical genetics (01.04.1998)
Published in Journal of medical genetics (01.04.1998)
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The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease
Sidransky, E, Tayebi, N, Stubblefield, B K, Eliason, W, Klineburgess, A, Pizzolato, G P, Cox, J N, Porta, J, Bottani, A, DeLozier-Blanchet, C D
Published in Journal of medical genetics (01.02.1996)
Published in Journal of medical genetics (01.02.1996)
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Prenatal Diagnosis in Switzerland
DeLozier-Blanchet, Célia D., Wisser, Joseph
Published in European journal of human genetics : EJHG (01.01.1997)
Published in European journal of human genetics : EJHG (01.01.1997)
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