Search Results - "Lemyre, E."

Refining the phenotype associated with biallelic DNAJC21 mutations by D'Amours, G., Lopes, Fátima Daniela Teixeira, Gauthier, J., Saillour, V., Nassif, C., Wynn, R., Alos, N., Leblanc, T., Capri, Y., Nizard, S., Lemyre, E., Michaud, J. L., Pelletier, V-A, Pastore, Y. D., Soucy, J-F

“…Accepted manuscript Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be…”
Get full text

Population history and its impact on medical genetics in Quebec by Laberge, A-M, Michaud, J, Richter, A, Lemyre, E, Lambert, M, Brais, B, Mitchell, GA

“…Knowledge of the genetic demography of Quebec is useful for gene mapping, diagnosis, treatment, community genetics and public health. The French‐Canadian…”
Get full text

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype by D'Amours, G, Kibar, Z, Mathonnet, G, Fetni, R, Tihy, F, Désilets, V, Nizard, S, Michaud, JL, Lemyre, E

“…D’Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud JL, Lemyre E. Whole‐genome array CGH identifies pathogenic copy number…”
Get full text

EP09.33: Early prenatal diagnosis of Golabi syndrome by Labrecque, A., Theriault, K., Delrue, M., Lemyre, E., Rypens, F., Wavrant, S.

Get full text

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome by Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, J.R.W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J.P., Kim, J.R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L.M., Oley, C., Splitt, M., Thomson, J., Peer, Y. Van de, Veitia, R.A., De Paepe, A., De Baere, E.

“…The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target…”
Get full text

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation by Morava, E, Lefeber, D J, Urban, Z, de Meirleir, L, Meinecke, P, Gillessen Kaesbach, G, Sykut-Cegielska, J, Adamowicz, M, Salafsky, I, Ranells, J, Lemyre, E, van Reeuwijk, J, Brunner, H G, Wevers, R A

“…Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and…”
Get full text

Phenotypic variability in isodicentric Y patients: study of nine cases by DesGroseilliers, M, Beaulieu Bergeron, M, Brochu, P, Lemyre, E, Lemieux, N

“…Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. As they are unstable during cell division and can generate…”
Get full text

Integration of cytogenetic landmarks into the draft sequence of the human genome by Trask, B. J, BAC Resource Consortium, The, Cheung, V. G, Nowak, N, Jang, W, Kirsch, I. R, Zhao, S, Chen, X.-N, Furey, T. S, Kim, U.-J, Kuo, W.-L, Olivier, M, Conroy, J, Kasprzyk, A, Massa, H, Yonescu, R, Sait, S, Thoreen, C, Snijders, A, Lemyre, E, Bailey, J. A, Bruzel, A, Burrill, W. D, Clegg, S. M, Collins, S, Dhami, P, Friedman, C, Han, C. S, Herrick, S, Lee, J, Ligon, A. H, Lowry, S, Morley, M, Narasimhan, S, Osoegawa, K, Peng, Z, Plajzer-Frick, I, Quade, B. J, Scott, D, Sirotkin, K, Thorpe, A. A, Gray, J. W, Hudson, J, Pinkel, D, Ried, T, Rowen, L, Shen-Ong, G. L, Strausberg, R. L, Birney, E, Callen, D. F, Cheng, J.-F, Cox, D. R, Doggett, N. A, Carter, N. P, Eichler, E. E, Haussler, D, Korenberg, J. R, Morton, C. C, Albertson, D, Schuler, G, de Jong, P. J

“…We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross…”
Get full text

Molecular Studies of a Patient with Complete Androgen Insensitivity and a 47,XXY Karyotype by Girardin, C.M., MD, Deal, C., PhD, MD, Lemyre, E., MD, Paquette, J., MSc, Lumbroso, R., MSc, Beitel, L.K., PhD, Trifiro, M.A., MD, Van Vliet, G., MD

“…A phenotypic female with complete androgen insensitivity from a maternally inherited mutation in the androgen receptor had a 47,XXY karyotype. Partial maternal…”
Get full text

Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development by Beaulieu Bergeron, M, Lemyre, E, Lemieux, N

“…Testicular disorder of sex development in the presence of a 46,XX karyotype is a rare condition. In most instances, it is caused by an X;Y translocation in the…”
Get more information

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 by Kim, HG, Herrick, S R, Lemyre, E, Kishikawa, S, Salisz, J A, Seminara, S, MacDonald, M E, Bruns, G A P, Morton, C C, Quade, B J, Gusella, J F

“…Hybridisation of labelled fragments was done in the presence of excess herring sperm competitor DNA, and hybridised membranes were washed at 60°C with 0.15 M…”
Get full text

Multidisciplinary management of a hepatic and renal transplant patient with Alagille syndrome by Maisonneuve, E, Morin, F, Crochetière, C, Lemyre, E, Bigras, J.-L, Leduc, L, Girardin, C, Bilodeau, M

Get full text

Specific language impairment as the prominent feature in a patient with a low-level trisomy 21 mosaicism by Paoloni-Giacobino, A., Lemieux, N., Lemyre, E., Lespinasse, J.

“…Background  The extent and severity of the disabilities is variable among individuals with Down syndrome, although generally characterized by a range of…”
Get full text

Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities by Tihy, Frédérique, Lemieux, N., Lemyre, E.

“…We report on the diagnosis of a complex chromosome rearrangement in a mother and the transmission of a simplified translocation in her fetus. The mother had…”
Get full text

Complex mosaicism in sex reversed SRY+ male twins by DesGroseilliers, M, Fortin, F, Lemyre, E, Lemieux, N

“…Sex reversal is characterized by discordance between genetic and phenotypic sex. Most XX males result from an unequal interchange between X and Y chromosomes…”
Get more information

Stable non-Robertsonian dicentric chromosomes: four new cases and a review by LEMYRE, EMMANUELLE, KALOUSTIAN, VAZKEN M DER, DUNCAN, ALESSANDRA M V

Get full text

Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes by DesGroseilliers, M, Fortin, F, Lafrenière, A-M, Brochu, P, Lemyre, E, Lemieux, N

“…Because ring Y chromosomes are unstable during cell division most reported patients are mosaics, usually including a 45,X cell line. The phenotype varies from…”
Get more information

Multicolor fluorescence in situ hybridization in clinical cytogenetic diagnostics by Lee, C, Lemyre, E, Miron, P M, Morton, C C

“…Multicolor fluorescence in situ hybridization is a technology that has vastly expanded the diagnostic repertoire of the clinical cytogenetics laboratory. The…”
Get full text

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development by Gong, Yaoqin, Slee, Roger B., Fukai, Naomi, Rawadi, Georges, Roman-Roman, Sergio, Reginato, Anthony M., Wang, Hongwei, Cundy, Tim, Glorieux, Francis H., Lev, Dorit, Zacharin, Margaret, Oexle, Konrad, Marcelino, Jose, Suwairi, Wafaa, Heeger, Shauna, Sabatakos, George, Apte, Suneel, Adkins, William N., Allgrove, Jeremy, Arslan-Kirchner, Mine, Batch, Jennifer A., Beighton, Peter, Black, Graeme C.M., Boles, Richard G., Boon, Laurence M., Borrone, Carla, Brunner, Han G., Carle, Georges F., Dallapiccola, Bruno, De Paepe, Anne, Floege, Barbara, Halfhide, Melissa Lees, Hall, Bryan, Hennekam, Raoul C., Hirose, Tatsuo, Jans, Ab, Jüppner, Harald, Kim, Chong Ae, Keppler-Noreuil, Kim, Kohlschuetter, Alfried, LaCombe, Didier, Lambert, Marie, Lemyre, Emmanuelle, Letteboer, Tom, Peltonen, Leena, Ramesar, Rajkumar S., Romanengo, Marta, Somer, Hannu, Steichen-Gersdorf, Elisabeth, Steinmann, Beat, Sullivan, Beth, Superti-Furga, Andrea, Swoboda, Walter, van den Boogaard, Marie-José, Van Hul, Wim, Vikkula, Miikka, Votruba, Marcela, Zabel, Bernhard, Garcia, Teresa, Baron, Roland, Olsen, Bjorn R., Warman, Matthew L.

“…In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein…”
Get full text

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay by Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.

“…A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing…”
Get full text