Zobrazeno 1 - 10
of 225
pro vyhledávání: '"Karen W, Gripp"'
Autor:
Erin Wadman, Erica Fernandes, Nina Powell-Hamilton, Candace Muss, Carolina Alves, Karen W. Gripp
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100371- (2023)
Externí odkaz:
https://doaj.org/article/9eeb938a02944766956979f085cbf4aa
Autor:
Erin Wadman, Erica Fernandes, Candace Muss, Nina Powell-Hamilton, Monica H. Wojcik, Jill A. Madden, Chrystalle Katte Carreon, Robin D. Clark, Annie Stenftenagel, Kamal Chikalard, Virginia Kimonis, William Brucker, Carolina Alves, Karen W. Gripp
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100834- (2023)
A novel syndrome was suspected in individuals sharing short stature, microcephaly, distinctive facial features, and congenital anomalies. We enrolled 6 patients in an institutional review board approved study and evaluated medical history, findings,
Externí odkaz:
https://doaj.org/article/8a300f2f361145159f72c50780ea5c75
Thoroughly updated and revised, this new edition of the classic clinical text provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural a
Autor:
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A. Thompson, Mercedes Pardo, Lu Yu, Joy W. Norris, Yunhui Peng, Karen W. Gripp, Kirk A. Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid M. Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol-Hee Kim, Erica E. Davis, Charles E. Schwartz
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)
Armfield X-linked disability (XLID) disorder has previously been linked to a locus in Xq28. Here, the authors report rare missense variants in FAM50A at Xq28, show that FAM50A interacts with the spliceosome, and that mis-splicing is enriched in knock
Externí odkaz:
https://doaj.org/article/63052a3b677a4732a00742387ae8a8ff
Autor:
Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized
Externí odkaz:
https://doaj.org/article/57a3f24470ab45e9a3daea857bcee71b
Autor:
Shuk Ching, Chong, Ye, Cao, Eva L W, Fung, Soledad, Kleppe, Karen W, Gripp, Jozef, Hertecant, Ayman W, El-Hattab, Jehan, Suleiman, Gary, Clark, Gretchen, von Allmen, Olga, Rodziyevska, Richard A, Lewis, Jill A, Rosenfeld, Jie, Dong, Xia, Wang, Marcus J, Miller, Weimin, Bi, Pengfei, Liu, Fernando, Scaglia
Publikováno v:
American Journal of Medical Genetics Part A. 191:776-785
WWOX biallelic loss-of-function pathogenic single nucleotide variants (SNVs) and copy number variants (CNVs) including exonic deletions and duplications cause WWOX-related epileptic encephalopathy (WOREE) syndrome. This disorder is characterized by r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccd7e7fe9b159cc8bba955b0cba515b
https://doi.org/10.1002/ajmg.a.63074
https://doi.org/10.1002/ajmg.a.63074
Autor:
K. Nicole Weaver, Karen W. Gripp
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:494-500
Central nervous system (CNS) anomalies are common in individuals with RASopathies. While certain findings, including relative or absolute macrocephaly, are typical for most RASopathies, other findings are more common in certain conditions, with rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e15791d70c1b8d1eb5ae2100a8f64aa
https://doi.org/10.1002/ajmg.c.32023
https://doi.org/10.1002/ajmg.c.32023
Autor:
Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L. Jefferies, Members of the Undiagnosed Diseases Network, Jill A. Rosenfeld, Lisa Emrick, Kimberly M. Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-9 (2017)
Abstract Background De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the
Externí odkaz:
https://doaj.org/article/9e8b3e6b6e104c55b95b2eb2877f0f28
Autor:
Daniëlle G. M. Bosch, Nicole Corsten-Janssen, Colin A Ellis, Dirk Lefeber, Alfredo Brusco, Irene Bagnasco, Andrea Accogli, Ellen Macnamara, Carlo Di Bonaventura, Giovanna Zorzi, Scott Demarest, Erik A. Eklund, Noëlle Mercier, Carlo Marcelis, Rong Zhang, Ban H Edani, Camilo Toro, Ziv Gan-Or, Simone Pizzi, Kariona A. Grabińska, Nienke E. Verbeek, Karen W. Gripp, Simone Martinelli, Caterina Caputi, Luca Pannone, Marco Tartaglia, Felix Distelmaier, Louise Amlie-Wolf, Luisa Averdunk, Anne-Sophie Alaix, Renzo Guerrini, Laura Masuelli, Marwan Shinawi, Sunita Venkateswaran, Joseph Peeden, Hana Hansikova, Lucie Zdrazilova, William C. Sessa, Serena Galosi, Renske Oegema, Patricia G Wheeler, Kristin W. Barañano, Vincenzo Leuzzi, Frances Elmslie, Fadi F. Hamdan, Roberto Bei, Jean-Marc Good, Isis Atallah, Myriam Srour, Erik-Jan Kamsteeg
Publikováno v:
Brain, 145, 1, pp. 208-223
Brain
Brain, 145(1), 208-223. Oxford University Press
Brain, vol. 145, no. 1, pp. 208-223
Brain, 145, 208-223
Brain
Brain, 145(1), 208-223. Oxford University Press
Brain, vol. 145, no. 1, pp. 208-223
Brain, 145, 208-223
Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subunit (DHDDS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012cb40531119a7d00e4415b8540c52c
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d
Autor:
Susan M, Kirwin, Katherine M, Robbins, Kathleen M B, Vinette, Lee, Hirata, Karen W, Gripp, Vicky L, Funanage
Publikováno v:
Delaware Journal of Public Health. 7:24-27
Chronic kidney disease (CKD) has major morbidity and mortality for children and adults. While in adults CKD often is associated with diabetic complications, genetic variants can be the underlying cause in both populations. Beginning in 2016 with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a7b44b4c21daa79f0322b836258cbc6
https://doi.org/10.32481/djph.2021.12.008
https://doi.org/10.32481/djph.2021.12.008