Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kisha D. Johnson"'
Autor:
Carlos Ferreira, Tommy Hu, Monisha S. Kisling, Holly Dubbs, Vorasuk Shotelersuk, Lynne M. Bird, Danilo Moretti-Ferreira, Kisha D. Johnson, Kate Clarkson, Paul W.K. Wong, Carol A. Crowe, André Mégarbané, Paul Kruszka, Shubha R. Phadke, Ambroise Wonkam, Victoria Mok Siu, Nirmala D. Sirisena, David B. Everman, Ian D. Krantz, Marie T. McDonald, Elizabeth Roeder, Eyby Leon, Usha Pinakin Dave, E.V. Badoe, Antonie D. Kline, Katta M. Girisha, Leah Dowsett, Maximilian Muenke, Fuki M. Hisama, Kwame Anyane-Yeoba, Antonio R. Porras, Cedrik Tekendo-Ngongang, Meow-Keong Thong, Naoki Hamajima, Pranoot Tanpaiboon, Annette Uwineza, Brandon Davis, Sarah E. Raible, Shalini S. Nayak, Maninder Kaur, Vajira H. W. Dissanayake, Leticia Cassimiro Batista, Jessica Worthington, Matthew A. Deardorff, Eloise J. Prijoles, Virginia Kimonis, Louanne Hudgins, Anju Shukla, Roger E. Stevenson, Karen Fieggen, Greta Gillies, Laird G. Jackson, Leon Mutesa, Engela Honey, Zornitza Stark, Ann Ades, Sulgana Saitta, Robin D. Clark, Marius George Linguraru, Marshall L. Summar, Laurie A. Demmer, Diane Masser-Frye, Patrick Willems, Emanuela Salzano, Stavit A. Shalev
Publikováno v:
American Journal of Medical Genetics Part A. 179:150-158
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccbf12bd40a1dec434611422057ad4d
https://doi.org/10.1002/ajmg.a.61033
https://doi.org/10.1002/ajmg.a.61033
Autor:
Marni J. Falk, Wen-Hann Tan, Romano Tenconi, Uffe Birk Jensen, Stéphane Decramer, Susan M. White, Lisa A. Schimmenti, Carolyn Wilson-Brackett, Marie Pierre Lavocat, Elisa Benetti, Gabriela Peretz-Amit, Nancy Rodig, Joanne Dixon, Dina J. Zand, Philippe Vanhille, Rajesh Kumar, Corinne Antignac, Régen Drouin, Holly Feret, David W. Stockton, Berta Warman, Gerard C. P. Schaafsma, Abhay Vats, Lawrence R. Shoemaker, Hiep T. Nguyen, David Mowat, Michael R. Eccles, Laurence Heidet, Matthew Bower, John A. Sayer, Francesco Benedicenti, Emily Place, Laura S. Martin, Richard G. Weleber, Gil Binenbaum, Ann Salerno, Xinjing Wang, Sujatha Sastry, Eric A. Pierce, Robert Gise, Kisha D. Johnson, Vincent Morinière, Pierre Cochat, Luisa Murer, Rémi Salomon, Alasdair G. W. Hunter, Tadashi Sato, Judith Allanson
Publikováno v:
Human Mutation
Human Mutation; Vol 33
Bower, M, Salomon, R, Allanson, J, Antignac, C, Benedicenti, F, Benetti, E, Binenbaum, G, Jensen, U B, Cochat, P, DeCramer, S, Dixon, J, Drouin, R, Falk, M J, Feret, H, Gise, R, Hunter, A, Johnson, K, Kumar, R, Lavocat, M P, Martin, L, Morinière, V, Mowat, D, Murer, L, Nguyen, H T, Peretz-Amit, G, Pierce, E, Place, E, Rodig, N, Salerno, A, Sastry, S, Sato, T, Sayer, J A, Schaafsma, G C P, Shoemaker, L, Stockton, D W, Tan, W-H, Tenconi, R, Vanhille, P, Vats, A, Wang, X, Warman, B, Weleber, R G, White, S M, Wilson-Brackett, C, Zand, D J, Eccles, M, Schimmenti, L A & Heidet, L 2012, ' Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database ', Human Mutation, vol. 33, no. 3, pp. 457-66 . https://doi.org/10.1002/humu.22020
Human Mutation; Vol 33
Bower, M, Salomon, R, Allanson, J, Antignac, C, Benedicenti, F, Benetti, E, Binenbaum, G, Jensen, U B, Cochat, P, DeCramer, S, Dixon, J, Drouin, R, Falk, M J, Feret, H, Gise, R, Hunter, A, Johnson, K, Kumar, R, Lavocat, M P, Martin, L, Morinière, V, Mowat, D, Murer, L, Nguyen, H T, Peretz-Amit, G, Pierce, E, Place, E, Rodig, N, Salerno, A, Sastry, S, Sato, T, Sayer, J A, Schaafsma, G C P, Shoemaker, L, Stockton, D W, Tan, W-H, Tenconi, R, Vanhille, P, Vats, A, Wang, X, Warman, B, Weleber, R G, White, S M, Wilson-Brackett, C, Zand, D J, Eccles, M, Schimmenti, L A & Heidet, L 2012, ' Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database ', Human Mutation, vol. 33, no. 3, pp. 457-66 . https://doi.org/10.1002/humu.22020
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with cla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ee7cb7b26fec7ef7d4216b0a9792b3
Autor:
Kathleen A. Leppig, Rhonda E. Schnur, Robert Roger Lebel, Santhosh Girirajan, Kisha D. Johnson, Rosemarie Smith, Brad Angle, Robyn A. Filipink, Susie Ball, Dmitriy Niyazov, Luis F. Escobar, J. Edward Spence, Bradley P. Coe, Marjan M. Nezarati, Evan E. Eichler, Wendy S. Meschino, Jill A. Rosenfeld, Juliann Mcconnell, Salmo Raskin, Campbell K. Brasington, Lisa G. Shaffer, Sumit Parikh, Neil R. Friedman, Gordon C. Gowans, Natasha Shur, Dima El-Khechen, Carol L. Clericuzio, Amy Goldstein, Erika Aberg, Donna M. Martin, Laura S. Martin, David W. Stockton, Alexander Asamoah, Lynette S. Penney, Heidi Thiese, Blake C. Ballif, Erin P. Carmany, Kelly E. Jackson, Kiana Siefkas, Judith A. Martin, Marianne McGuire
Publikováno v:
The New England journal of medicine. 367(14)
Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.We analyzed the genomes of 2312
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b21729eea5c4826cceb2f112f71d6a2
https://pubmed.ncbi.nlm.nih.gov/22970918
https://pubmed.ncbi.nlm.nih.gov/22970918
Autor:
Kim M. Keppler-Noreuil, Leslie G. Biesecker, John M. Graham, Jennifer J. Johnston, Karina Acrich, Ingrid M. Wentzensen, Kisha D. Johnson, Julie C. Sapp, Karen L. David
Publikováno v:
Human Genome Variation
Oral-facial-digital syndrome VI (OFD6 OMIM #277170), also called Varadi-Papp syndrome, is a ciliopathy inherited in an autosomal recessive pattern. Recently, mutations in C5orf42 (OMIM #614571) have been associated with OFD6. OFD6 overlaps with Joube
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04eccbf944e67ff9dffd3921038df537
http://europepmc.org/articles/PMC4785546
http://europepmc.org/articles/PMC4785546