Zobrazeno 1 - 10 of 138 pro vyhledávání: '"Robert J Shprintzen"'
1
Elektronická kniha
Velo-Cardio-Facial Syndrome Volume 2: Treatment of Communication Disorders
Autor: Karen J. Golding-Kushner, Robert J. Shprintzen
Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat. This b
Zobrazit plný text záznamu
2
EMC10 reduction in human neurons and adult mouse brain rescues cellular and behavioral deficits linked to 22q11.2 deletion
Autor: Pratibha Thakur, Martin Lackinger, Anastasia Diamantopoulou, Sneha Rao, Yijing Chen, Annie Ferng, Curt Mazur, Holly Kordasiewicz, Robert J. Shprintzen, Sander Markx, Bin Xu, Joseph A. Gogos
Up-regulation of Mirta22/Emc10 is a major transcriptional effect of the 22q11.2-associated microRNA dysregulation and underlies key cellular as well as behavioral deficits. EMC10 is a component of the ER membrane complex, which promotes membrane inse
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7940b886dc609254baed996b61411e73
https://doi.org/10.1101/2022.03.01.482495
Zobrazit plný text záznamu
3
An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective
Autor: Andrea Curtin, Arlene Mannion, Robert J. Shprintzen, Sally Whelan, Rory Coyne, Geraldine Leader
Publikováno v: American journal of medical genetics. Part AREFERENCES. 188(4)
22q11.2 Deletion Syndrome (22q11DS) is a genetic syndrome caused by a chromosomal microdeletion. It affects approximately 1 in 850-992 pregnancies, and its clinical manifestations include congenital heart disease, gastrointestinal symptoms, and psych
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9895ca41b30adf9e275c7bab9758e324
https://pubmed.ncbi.nlm.nih.gov/34908218
Zobrazit plný text záznamu
4
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Autor: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip
Publikováno v: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mos
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bb
Zobrazit plný text záznamu
5
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
Autor: Maude Schneider, Doron Gothelf, Marianne Bernadette van den Bree, Carrie E. Bearden, Donna M. McDonald-McGinn, Marco Armando, Raquel E. Gur, Jordi Rosell, Joris Vermeesch, Ann Swillen, Therese van Amelsvoort, Jacob A. S. Vorstman, Robert J. Shprintzen, Tao Wang, Clodagh M. Murphy, Kieran C. Murphy, Tingwei Guo, Terrence B. Crowley, Jasna Raventos, Nicole Philip, Sasja N. Duijff, Elaine H. Zackai, Maria Pontillo, Jeroen Breckpot, Stephan Eliez, Alexander Diacou, Beverly S. Emanuel, Stefano Vicari, Michael John Owen, Maria Niarchou, Claudia Ornstein, Jaume Morey‐Cañellas, Anne S. Bassett, Yingjie Zhao, Ania Fiksinski, Rens Evers, Elemi J. Breetvelt, Antonino Buzzanca, Sixto García-Miñaur, Bernice E. Morrow, Eva W.C. Chow, Wendy R. Kates, Linda E. Campbell, Damian Heine-Suñer
Publikováno v: American Journal of Medical Genetics. A, Vol. 176, No 10 (2018) pp. 2172-2181
American Journal of Medical Genetics Part A, 176(10), 2172-2181. Wiley
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American journal of medical genetics. Part A, vol 176, iss 10
The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08da23afa70859c4fc6d6aa3b110d39
https://doi.org/10.1002/ajmg.a.40359
Zobrazit plný text záznamu
8
'Retrofitting' established genetic disorders and diseases through big data and phenomics
Autor: Robert J. Shprintzen, William D. Graf
Publikováno v: Neurol Clin Pract
OBJECTIVE: To determine shared comorbidities and to identify underrecognized or unexpected morbidities in children with leukodystrophies using an unbiased phenome-wide association study (PheWAS) analysis of a nationwide pediatric clinical and financi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36eb78d44f6668c0f3ee99aaf81a52f1
https://doi.org/10.1212/cpj.0000000000000784
Zobrazit plný text záznamu
10
The International Use of Telepractice
Autor: Karen J. Golding-Kushner, Robert J. Shprintzen
Publikováno v: Perspectives on Telepractice. 2:16-25
Access to the Internet and modern telecommunications around the world has increased substantially to the point where, in many parts of the world, it is easier to get online or make an international telephone call than to gain access to a speech-langu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dab1d8aeacffb31b7b55ae8b9f9a733d
https://doi.org/10.1044/tele2.1.16
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje