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Genetic testing experience of a private fertility clinic

Autor: Pierre St-Michel, Serge B. Melançon, Myriam Pelletier, S. Demczuk, François Bénard

Publikováno v: International Congress Series. 1271:177-180

The objective of the study was to assess the frequency of Y-chromosome microdeletions and cytogenetic rearrangements in couples presenting with a male factor-infertility and to evaluate under which indications these genetic analysis should be recomme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c3129c97f5d9e4bd296544474edddbb
https://doi.org/10.1016/j.ics.2004.05.037

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A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study

Autor: Der Kaloustian Vm, Koenekoop Rk, Dubé P, S. Demczuk, Saabti H

Publikováno v: Ophthalmic Genetics. 21:211-216

We describe a child with global developmental delay, prominent metopic suture, trigonocephaly, and cryptorchidism whose symptoms resemble the well-known 9p deletion syndrome or 9p monosomy. We also noted congenital hydrocephalus, oculocutaneous albin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31d92bdfa0c25d50b1cc11531a922e5
https://doi.org/10.1076/1381-6810(200012)2141-hft211

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Isolation and Mapping of 45 NotI Linking Clones to Chromosome 22

Autor: Fangrong Zhang, Olivier Delattre, M. Sanson, Guy A. Rouleau, Alain Aurias, Gilles Thomas, Pieter DeJong, S. Demczuk

Publikováno v: Genomics. 17:776-779

Fifty-nine NotI linking clones have been isolated from a flow-sorted chromosome 22 cosmid library and mapped using fluorescence in situ hybridization and/or a panel of somatic cell hybrids. Fourteen clones map to the short arm of chromosome 22, 31 to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d6c4e168ee67de5bbb8439cbde3854
https://doi.org/10.1006/geno.1993.1407

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Contents, Vol. 64, 1993

Autor: D.W. Cooper, Robin J. Leach, P. Popescu, M.R. Harrison, T. Kranert, H.A. Phillips, C. Collet, J. Xu, M. Yerle, T. Tamura, I. Mísek, N.A. Jenkins, T. Muramatsu, B.O. Bengtsson, E. Capanna, M. Letarte, M. Djabali, R.B. Gaynor, J.R. Testa, J. Zima, R. Wassmuth, T. Bellón, M. Macholán, M. Kawalika, L. Selleri, D.J. Gilbert, T. Ohta, J.C. Mulley, M.J. Reitsma, A. Geurts van Kessel, D. Muhleman, F.J. Otto, E.A. Fon, T. Taguchi, A.D. Thompson, D. Olde Weghuis, V. Najfeld, T. Miyauchi, S. Demczuk, P.N. Tsichlis, D.E. Iles, R.F. Suijkerbuijk, B.-H. Shieh, F.S. Collins, T.W. Glover, G. Levan, H. Lewalski, David Schlessinger, G.A. Evans, M.I. Pigozzi, N.G. Copeland, P. Doi, C.H.M. Mellink, R.S. Sparkes, S. Garagna, G. Thomas, Y. Jinno, B.L. Weber, A. Swaroop, Wl. Flejter, C.A. Redi, K. Klinga Levan, F.M. Kiely, M. Watkins, T. Kajii, N. Andayani, R. Suikerbuijk, A.J. Lusis, E. Fernández-Ruiz, H. Jaafar, G.R. Sutherland, S.L. Gupta, E. Petit, A. Bellacosa, P.A. Lazo, O. Gabriel-Robez, H.M. Kozman, Dennis Drayna, T. Kishino, K. Yoshiura, I. Klisak, T.A. Jones, B.L. De Stavola, Jean-Louis Mandel, L.M. McKenzie, K. Patel, A.L. Hawkins, A.J. Solari, D. Sheer, H. Soejima, J.-Y. Zhou, O. Delattre, R.M. Alfano, H. Hayes, C. Bouniol, G. Viale, Stephen Wood, T. Kaname, A. Kuwano, N. Niikawa, G.P. Chrousos, S. St-Jacques, Y. Matsuda, D. McElligott, C. Lee, N.C. Vamvakopoulos, E. Wang Jabs, K.J. Abel, M.G. Pallavicini, W.H. Moolenaar, G.A. Rouleau, B. Wieringa, J.M. Shipley, Y. Lahbib-Mansais, D.E. Comings, B. Segers, J. Menninger, C.A. Griffin, S.C. Chandrasekharappa, H.-S. Hong, M. Giovannini, Y. Rumpler, H. Burda, Huntington F. Willard, J. Gellin, C. Bernabéu, M.F.G.B. Gebbink

Publikováno v: Cytogenetic and Genome Research. 64:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8194bd9a5cc2be8ae9de8dd9eb729471
https://doi.org/10.1159/000133569

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Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

Autor: C. Desmaze, S. Demczuk, Guy A. Rouleau, Mourad Aikem, Alain Aurias, Jean-Pierre Julien, M. Aubry

Publikováno v: Human Molecular Genetics. 2:1583-1587

DiGeorge syndrome is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, and conotruncal heart defects. We recently isolated four genes with zinc finger DNA binding motifs mapping to chromosome 22q11.2 DiGeorge crit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3d9f47046060256d93dfe37dc2c32c
https://doi.org/10.1093/hmg/2.10.1583

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Involvement of a calpain-like protease in the processing of the murine interleukin 1 alpha precursor

Autor: S. Demczuk, L M Carruth, Steven B. Mizel

Publikováno v: Journal of Biological Chemistry. 266:12162-12167

Interleukin (IL) 1 alpha is synthesized as a 33-kDa precursor that is enzymatically cleaved to the 15-17-kDa forms that are found in the culture supernatants of activated macrophages. We have explored the possibility that calcium might enhance IL-1 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5081d3e10eac5da815bf574fb62358da
https://doi.org/10.1016/s0021-9258(18)98874-5

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Physical Mapping of 30 CA Repeats on Human Chromosome 22

Autor: Gareth J. Thomas, Jean Weissenbach, Olivier Delattre, S. Demczuk, Alain Aurias, A. Vignal

Publikováno v: Genomics. 27:345-347

We report the physical mapping of 30 microsatellite markers specific for chromosome 22 by PCR amplification of DNA from hybrids that divide the long arm into 27 subregions. This work permits further refining of the genetic linkage ordering previously

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3978c5bfae28c1b79e5418be59083eb8
https://doi.org/10.1006/geno.1995.1053

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Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

Autor: Marie-Geneviève Mattei, Danièle Depétris, Alain Aurias, Annie Levy, Nicole Philip, S. Demczuk

Publikováno v: Human Molecular Genetics. 4:2417-2419

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3434db079d871fd5b951a88b4ffc09a
https://doi.org/10.1093/hmg/4.12.2417

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Prenatal diagnosis by FISH of a 22q11 deletion in two families

Autor: N. Joye, L Fermont, Marie-France Portnoï, J L Taillemite, Marie Gonzales, G Bercau, G Gaillard, S. Demczuk, G Morlier

Publikováno v: Journal of medical genetics. 35(2)

We report on prenatal diagnosis by FISH of a sporadic 22q11 deletion associated with DiGeorge syndrome (DGS) in two fetuses after an obstetric ultrasonographic examination detected cardiac anomalies, an interrupted aortic arch in case 1 and tetralogy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::819f53855b288b48bd11e90edcca3aba
https://pubmed.ncbi.nlm.nih.gov/9507401

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Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes

Autor: Gilles Thomas, Alain Aurias, S. Demczuk

Publikováno v: Human molecular genetics. 5(5)

DiGeorge syndrome, and more widely the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. A critical region of 500 kb has been delimited within which maps the breakpoint of a balanced translocation associated with mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce5438c20f2fe7e1329bdbb93c7cd39
https://pubmed.ncbi.nlm.nih.gov/8733130

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