Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Patricia I. Bader"'
Autor:
Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Abstract Background Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neu
Externí odkaz:
https://doaj.org/article/9879805980e143e1af4e72fdff58ff03
Autor:
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Abstract Background Exon-targeted microarrays can detect small (
Externí odkaz:
https://doaj.org/article/e6f31aabb43544b3bfd37c91bba99006
Autor:
Estelle Colin, Céline Bris, Patricia I. Bader, Stéphanie Rouleau, Dominique Bonneau, Alban Ziegler, Kirsty McWalter, Ganka Douglas, Régis Coutant, Clara Houdayer
Publikováno v:
Clinical genetics
Clinical genetics, 2019, 96 (4), pp.354-358. ⟨10.1111/cge.13603⟩
Clinical genetics, 2019, 96 (4), pp.354-358. ⟨10.1111/cge.13603⟩
International audience; TTI2 (MIM 614126) has been described as responsible for autosomal recessive intellectual disability (ID; MRT39, MIM:615541) in only two inbred families. Here, we give an account of two individuals from two unrelated outbred fa
Autor:
Shalini N. Jhangiani, Chad A. Shaw, Rupa S. Kanchi, Patricia I. Bader, John Beaulaurier, V. Reid Sutton, Pawel Stankiewicz, Bo Yuan, Sissel Juul, James R. Lupski, Eoghan D. Harrington, Richard A. Gibbs, Claudia M.B. Carvalho, Neil A. Hanchard, John W. Belmont, Daniel J. Turner, Hadia Hijazi, Zeynep Coban-Akdemir, Matthew Pendleton, Sau Wai Cheung, Donna M. Muzny
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Genome Medicine
Genome Medicine
Background Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neutral geno
Autor:
Monica Proud, Christian P. Schaaf, A L Beaudet, Danielle Guffey, Marwan Shinawi, May Ali, Patricia I. Bader, Madelyn A. Gillentine, Theresa A. Grebe, Jun Ge, Robin P. Goin-Kochel, J. Reynolds, Pawel Stankiewicz, Angela E. Lin, Jill A. Rosenfeld, Leandra N. Berry, Charles G. Minard, Vickie L. Hannig, Seema R. Lalani, Brett H. Graham, M. Chen
Publikováno v:
Journal of Autism and Developmental Disorders. 47:549-562
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHR
Autor:
Clara Houdayer, Patricia I. Bader, Estelle Colin, Alban Ziegler, Dominique Bonneau, Kirsty McWalter, Régis Coutant, Stéphanie Rouleau, Céline Bris, Ganka Douglas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d0eadd86d3eadbe5983589a8b9a21e9
https://doi.org/10.1111/cge.13603/v2/response1
https://doi.org/10.1111/cge.13603/v2/response1
Autor:
Christian P. Schaaf, Janice L. Smith, Rachel Westman, Ronit Marom, Laurence Faivre, Pawel Stankiewicz, Patricia I. Bader, Myla Ashfaq, Hsiao-Tuan Chao, Monica Proud, Hope Northrup, Lindsay E. Elton, Seema R. Lalani, Yaping Yang, Chester W. Brown, Kimberly Nugent, Lauren Dengle, James R. Lupski, Sandesh C.S. Nagamani, Heather G. Petrie, Bo Yuan, Robert Wildin, Carlos A. Bacino, Chad A. Shaw, Tomasz Gambin, Hannele Koillinen, La Donna Immken, Edward P. Buchanan, Zeynep Coban-Akdemir, Ankita Patel, Lisa Emrick, Diane Treadwell-Deering, Anita E. Beck, Nora Urraca, Sau Wai Cheung, Elizabeth Roeder, Amy M. Breman, Mathilde Lefebvre, Arthur L. Beaudet, Amber N. Pursley, Gary Bellus, Sung Hae L. Kang, Sailaja Golla, Jill A. Rosenfeld, Reuben Matalon, Michael P. Cummings, Pengfei Liu, Roya Mostafavi, Saunder Bernes, Shaun Varghese, Magdalena Walkiewicz, Weimin Bi
Publikováno v:
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Background Exon-targeted microarrays can detect small (
Autor:
Jun Ge, Pawel Stankiewicz, Jill A. Rosenfeld, May Ali, Patricia I. Bader, Robin P. Goin-Kochel, Marwan Shinawi, Leandra N. Berry, Brett H. Graham, A. L. Beaudet, Danielle Guffey, Charles G. Minard, Monica Proud, Christian P. Schaaf, Theresa A. Grebe, M. Chen, Seema R. Lalani, J. Reynolds, Angela E. Lin, Madelyn A. Gillentine, Vickie L. Hannig
Publikováno v:
Journal of autism and developmental disorders. 47(3)
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHR
Autor:
Robert B. Hufnagel, Patricia I. Bader, K. Nicole Weaver, Sophia B. Hufnagel, Elizabeth K. Schorry, Robert J. Hopkin
Publikováno v:
Am J Med Genet A
Mutations in the type XI collagen alpha-1 chain gene (COL11A1) cause a change in protein structure that alters its interactions with collagens II and V, resulting in abnormalities in cartilage and ocular vitreous. The most common type XI collagenopat
Autor:
J. Lloyd Holder, Patricia I. Bader, Erin Powell, Jill V. Hunter, Ayelet Erez, Sandesh C.S. Nagamani, Pawel Stankiewicz, Sau Wai Cheung, Leslie Newman, La Donna Immken, Judith Allanson, Ankita Patel, Sirisha Peddibhotla, Weimin Bi, Gayle Simpson, Mary E. Carlin, Carlos A. Bacino, Helene M.F. Perras, Sung Hae L. Kang, Aaron Mohanty
Publikováno v:
European Journal of Human Genetics. 23:54-60
Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that