Zobrazeno 1 - 10
of 51
pro vyhledávání: '"C. D. DeLozier-Blanchet"'
Autor:
Romain Lazor, Maria Margherita De Santi, Francesca Santamaria, Emilie Falconnet, Alexandra Saitta, Analia Munoz, C. D. DeLozier-Blanchet, Colette Rossier, Mike Failly, Lucia Bartoloni, Jean-Louis Blouin
Publikováno v:
Respiration. 76:198-204
Background: Primary ciliary dyskinesia (PCD) is a rare recessive hereditary disorder characterized by dysmotility to immotility of ciliated and flagellated structures. Its main symptoms are respiratory, caused by defective ciliary beating in the epit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7439b6724b4787657875b582b4ad4d4
https://doi.org/10.1159/000128567
https://doi.org/10.1159/000128567
Autor:
Laurence Duprez, Merete Bugge, Carsten A. Brandt, Jens Michael Hertz, C. D. DeLozier-Blanchet, Mads Bak, Michael B. Petersen, Jytte Bieber Nielsen
Publikováno v:
American Journal of Medical Genetics Part A. :310-313
We have used 20 PCR-based DNA polymorphisms to determine whether trisomy 13 due to de novo rea(13q;13q) in six cases is caused by translocation (13q;13q) or isochromosome (13q;13q); to determine the parental origin of the rearrangements and the mecha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::faa3c62d0505c6edcefbd51af20137e8
https://doi.org/10.1002/ajmg.a.30474
https://doi.org/10.1002/ajmg.a.30474
Autor:
Marie-Anne Brundler, Jean-Louis Blouin, C. D. DeLozier-Blanchet, Arnaud Roth, Philippe Morel, Marc-Claude Marti, P. E. Queneau, Pierre Hutter, Stylianos E. Antonarakis, Jean-François Egger, Claudio Soravia
Publikováno v:
Swiss Surgery. 7:0099-0104
AIM: The aim of this study was to assess the feasibility and success of multidisciplinary approach for the management of hereditary colorectal cancer. MATERIAL AND METHODS: From November 1998 to November 2000, 32 individuals with putative familial/he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb1970cd79347c944253ce29cee00d3c
https://doi.org/10.1024/1023-9332.7.3.99
https://doi.org/10.1024/1023-9332.7.3.99
Autor:
L. Van Maldergem, Lucia Bartoloni, M Meeks, C Gehring, b afzelius, A O'Rawe, RM Gardiner, A Walne, Mark Jorissen, Stylianos E. Antonarakis, Jean-Louis Blouin, Genevieve Duriaux Sail, DV Schidlow, H Walt, C. D. DeLozier-Blanchet, Uppala Radhakrishna, Amanda Sainsbury, Dombi, Eddie M. K. Chung, Miguel Armengot, D Probst, P A Guerne
Publikováno v:
European Journal of Human Genetics, Vol. 8, No 2 (2000) pp. 109-118
Primary ciliary dyskinesia (PCD), or immotile cilia syndrome (ICS), is an autosomal recessive disorder affecting ciliary movement with an incidence of 1 in 20000-30000. Dysmotility to complete immotility of cilia results in a multisystem disease of v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf4bc9d1aa841e47683dbdcb73f4840
https://doi.org/10.1038/sj.ejhg.5200429
https://doi.org/10.1038/sj.ejhg.5200429
Autor:
Lucia Bartoloni, SL Spiden, Stylianos E. Antonarakis, Colette Rossier, HM Mitchison, RM Gardiner, M Meeks, A. K. Maiti, Jean-Louis Blouin, C. D. DeLozier-Blanchet, Eddie M. K. Chung, Corinne Gehrig
Publikováno v:
Cytogenetics and Cell Genetics, Vol. 90, No 1-2 (2000) pp. 119-122
Scopus-Elsevier
Scopus-Elsevier
The transcription factor FOXJ1 (alias HFH-4 or FKHL13) of the winged-helix/forkhead family is expressed in cells with cilia or flagella, and seems to be involved in the regulation of axonemal structural proteins. The knockout mouse Foxj1–/– shows
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f482034235ec0e9f0809350a24c0a9
https://doi.org/10.1159/000015645
https://doi.org/10.1159/000015645
Autor:
Pereira Joseluiz, Angus John Clarke, Lars Edström, Naidu Sakkubai, Ingo Hansmann, Maria Anvret, Fengqing Xiang, Zhiping Zhang, Budden Sarojini, C. D. DeLozier-Blanchet
Publikováno v:
Karolinska Institutet
Rett syndrome (RS) is a disease of neurological development. First reported 30 years ago in 1966, its biological and genetic basis remains obscure. RS is commonly thought of as an X linked dominant disorder lethal to hemizygous males. The few familia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a55483ad51d523c69dd4d66cc499505b
https://doi.org/10.1136/jmg.35.4.297
https://doi.org/10.1136/jmg.35.4.297
Autor:
Albert Schinzel, Eric Engel, B. Schmitt, Wendy P. Robinson, Michael A. Morris, C. D. DeLozier-Blanchet, A. Bottani, L. Thun‐Hohenstein
Publikováno v:
American Journal of Medical Genetics. 51:35-40
The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::298895410141321287f2157568fbb270
https://doi.org/10.1002/ajmg.1320510109
https://doi.org/10.1002/ajmg.1320510109
Autor:
Jean-François Bolle, Raymond Rondez, C. D. DeLozier-Blanchet, Michael A. Morris, Marguerite Neerman-Arbez
Publikováno v:
Cancer Genetics and Cytogenetics, Vol. 65, No 1 (1993) pp. 58-63
Eight primary testicular germ cell tumors, one teratocarcinoma cell line, and one Leydig cell tumor were studied to determine the importance of modifications of the nucleolar organizer regions (NORs) in human testicular tumors. Cytogenetic analysis a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ef9a8af97ce2553e06f157ec51a84be
https://doi.org/10.1016/0165-4608(93)90059-u
https://doi.org/10.1016/0165-4608(93)90059-u
Publikováno v:
Dermatology. 186:138-143
We report the case of a 17-year-old girl with a constitutional chromosome anomaly (ring chromosome 7), associated with multiple pigmented skin lesions, who developed malignant melanoma. Eight other cases of ring chromosome 7 are described in the lite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b3a1d350de6456beb260ef26f5e48af
https://doi.org/10.1159/000247325
https://doi.org/10.1159/000247325
Publikováno v:
Journal of Medical Genetics. 38:269-271
Editor—Diaphragmatic hernia occurs with an incidence of 1/4000-1/5000 newborns.1 2 About half of the cases occur as isolated malformations; anomalies of the central nervous system are well known associated defects, as are midline malformations such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::963b464a3c96ebf5c4d13ad402a84ea6
https://doi.org/10.1136/jmg.38.4.269
https://doi.org/10.1136/jmg.38.4.269