Zobrazeno 1 - 10
of 557
pro vyhledávání: '"Charles E Schwartz"'
Autor:
Jozef Gecz, Raman Kumar, Roger E Stevenson, Michael Field, Michael J Friez, Susan Sklower Brooks, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Charles E Schwartz
Publikováno v:
BMJ Open, Vol 6, Iss 4 (2016)
Background X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequenc
Externí odkaz:
https://doaj.org/article/63e513f726c64e4db29d23d9f58c5f6e
Autor:
Philip eLong, Melanie M May, Victoria M James, Simone eGranno, John P Johnson, Patrick eTarpey, Roger E Stevenson, Kirsten eHarvey, Charles E Schwartz, Robert J Harvey
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 8 (2016)
Non-syndromal X-linked intellectual disability (NS-XLID) represents a broad group of clinical disorders in which ID is the only clinically consistent manifestation. Although in many cases either chromosomal linkage data or knowledge of the >100 exist
Externí odkaz:
https://doaj.org/article/99802d9885ef4e0ebafbfd7d41f3db6e
Autor:
Tejasvi S Niranjan, Cindy Skinner, Melanie May, Tychele Turner, Rebecca Rose, Roger Stevenson, Charles E Schwartz, Tao Wang
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0116454 (2015)
X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known
Externí odkaz:
https://doaj.org/article/552eaf8fdb4f4ee1946295080d0ad6a4
The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise an
Autor:
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill. A. Rosenfeld, Michael J. Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T. Kahle, Bertrand Isidor
Publikováno v:
Genetics in Medicine, 24(9), 1941-1951. Lippincott Williams & Wilkins
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
PURPOSE: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown. METHOD: We ascertained exome or genome seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711e752a43d1442b0a91b2645fc1747e
https://doi.org/10.1016/j.gim.2022.05.009
https://doi.org/10.1016/j.gim.2022.05.009
Autor:
Amor, David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J.
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 13; Pages: 10712
This study characterizes the DNA methylation patterns specific to fragile X syndrome (FXS) with a full mutation (FM > 200 CGGs), premutation (PM 55–199 CGGs), and X inactivation in blood and brain tissues at the 3′ boundary of the FMR1 promoter.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::a81483da770db5d0f7c82233f785558f
Autor:
Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger
Publikováno v:
Disease Models & Mechanisms. 16
Split hand/foot malformation (SHFM) is a rare limb abnormality with clefting of the fingers and/or toes. For many individuals, the genetic etiology is unknown. Through whole-exome and targeted sequencing, we detected three novel variants in a gene en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42623279a24ad336ca305c0daa6ab87a
https://doi.org/10.1242/dmm.049977
https://doi.org/10.1242/dmm.049977
Autor:
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J. Curry, Patrick S. Tarpey, Stephen P. Robertson, Isabelle Maystadt, Boris Keren, Joanne W. Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L. Tedder, Charles E. Schwartz, Michael J. Friez, Bekim Sadikovic, Roger E. Stevenson
Publikováno v:
Wang, J, Foroutan, A, Richardson, E, Skinner, S A, Reilly, J, Kerkhof, J, Curry, C J, Tarpey, P S, Robertson, S P, Maystadt, I, Keren, B, Dixon, J W, Skinner, C, Stapleton, R, Ruaud, L, Gumus, E, Lakeman, P, Alders, M, Tedder, M L, Schwartz, C E, Friez, M J, Sadikovic, B & Stevenson, R E 2022, ' Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 ', European Journal of Human Genetics, vol. 30, no. 4, pp. 420-427 . https://doi.org/10.1038/s41431-021-01018-1
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics, 30(4), 420-427. Nature Publishing Group
Eur J Hum Genet
European journal of human genetics, 30(4), 420-427. Nature Publishing Group
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics, 30(4), 420-427. Nature Publishing Group
Eur J Hum Genet
European journal of human genetics, 30(4), 420-427. Nature Publishing Group
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a33912da0927c23e3b9a4aee351a59e
https://doi.org/10.1038/s41431-021-01018-1
https://doi.org/10.1038/s41431-021-01018-1
Autor:
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, Michael A. Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Cindy D. Skinner, Raymond C. Caylor, Matthew L. Tedder, Roger E. Stevenson, Bekim Sadikovic, Charles E. Schwartz
Publikováno v:
European Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6b5080ea8d17ef002a8d85e873fc6ad
https://doi.org/10.1038/s41431-023-01313-z
https://doi.org/10.1038/s41431-023-01313-z
Autor:
Parith Wongkittichote, Tae‐Ik Choi, Oc‐Hee Kim, Kacie Riley, Dwight Koeberl, Vinodh Narayanan, Keri Ramsey, Chris Balak, Charles E. Schwartz, Anna Maria Cueto‐Gonzalez, Francina Munell Casadesus, Cheol‐Hee Kim, Marwan S. Shinawi
Publikováno v:
Clinical geneticsREFERENCES.
ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::684a12ef9c6f75183527eb1ff8d65275
https://pubmed.ncbi.nlm.nih.gov/36250278
https://pubmed.ncbi.nlm.nih.gov/36250278