Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Kari Casas"'
Autor:
Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Dimitar Gavrilov, Devin Oglesbee, Matthew J. Schultz, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101110- (2024)
Treatment of phenylketonuria (PKU) has evolved since the initial introduction of a phenylalanine (Phe) restricted diet. The most recent option for adults affected with PKU is treatment with an alternate enzyme, phenylalanine ammonia lyase (PAL), that
Externí odkaz:
https://doaj.org/article/3186e1c501f647c78e2451cc78f87724
Autor:
Lauren Thompson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
ObjectiveMulti-center implementation of rapid whole genome sequencing with assessment of the clinical utility of rapid whole genome sequencing (rWGS), including positive, negative and uncertain results, in admitted infants with a suspected genetic di
Externí odkaz:
https://doaj.org/article/d4247d3c615a40bd9f199dcdcda3c707
Autor:
Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. W
Externí odkaz:
https://doaj.org/article/4c768b28545c4e9c80d7adf8d44f46ec
Autor:
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU
Externí odkaz:
https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762
Autor:
Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina A.N. Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frédéric Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte I. De Bie, Sjoerd J.B. Holwerda, Mary Alice Abbot, Stylianos E. Antonarakis, Bart Loeys
Publikováno v:
Genetics in medicine
Genetics in Medicine, 24, 1583-1591
Genetics in Medicine, 24, 7, pp. 1583-1591
Genetics in Medicine, 24, 1583-1591
Genetics in Medicine, 24, 7, pp. 1583-1591
PURPOSE CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled histone modification through promoting H3K4 and H3K36 methylatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b73537ad914eb673a4bc07cc2d60adf1
https://doi.org/10.1016/j.gim.2022.04.003
https://doi.org/10.1016/j.gim.2022.04.003
Publikováno v:
J Pediatr Pharmacol Ther
OBJECTIVE Premature infants are known to have a higher rate of false positive newborn screening (NBS) results, with TPN as a contributing factor. The purpose of this quality improvement (QI) project is to reduce false positive NBS results via a TPN i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::555dd19e1bbb44938b0ada5dd6e340fc
https://doi.org/10.5863/1551-6776-26.7.723
https://doi.org/10.5863/1551-6776-26.7.723
Mutations inPDLIM5are rare in dilated cardiomyopathy but are emerging as potential disease modifiers
Autor:
Kari Casas, Emma L. Robinson, Radek Szklarczyk, Ingrid P.C. Krapels, Gabriel Kringlen, Mohamed W. Mohamed, Kiely N. James, Godelieve R.F. Claes, Shareef Nahas, Jan F. C. Glatz, Els K. Vanhoutte, Michele M. Pasierb, Arthur van den Wijngaard, Stephane Heymans, Job Verdonschot, Han G. Brunner, Mark R. Hazebroek
Publikováno v:
Molecular Genetics & Genomic Medicine, 8, 2
Molecular genetics & genomic medicine, 8(2):e1049. Wiley
Molecular Genetics & Genomic Medicine, 8
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular genetics & genomic medicine, 8(2):e1049. Wiley
Molecular Genetics & Genomic Medicine, 8
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. We aim to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4956e352d9f41f1869c143a1c16a309e
https://doi.org/10.1002/mgg3.1049
https://doi.org/10.1002/mgg3.1049
Autor:
Maja Djordjevic, Francjan J. van Spronsen, K. Ahring, Annemiek M. J. van Wegberg, Per Mathisen, Kari Casas, Francesca Nardecchia, Vincenzo Leuzzi, F. K. Trefz, Callum Wilson, William B. Hanley, Frank Rutsch, Kimberly K. Powell, Miroslaw Bik-Multanowski, Bozena Didycz, Clara D.M. van Karnebeek, Jozef Hertecant, Natalia Usurelu, Danique van Vliet, Maja Stojiljkovic
Publikováno v:
Nutrients
Nutrients, 11
Nutrients, 11(11):2572. MDPI AG
Nutrients, 11(11):2572. Multidisciplinary Digital Publishing Institute (MDPI)
Nutrients, 11, 11
Volume 11
Issue 11
Nutrients, Vol 11, Iss 11, p 2572 (2019)
Nutrients, 11
Nutrients, 11(11):2572. MDPI AG
Nutrients, 11(11):2572. Multidisciplinary Digital Publishing Institute (MDPI)
Nutrients, 11, 11
Volume 11
Issue 11
Nutrients, Vol 11, Iss 11, p 2572 (2019)
Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal plasma phenylalan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57cc83d4e621e4a121acbacf67f50c2
http://hdl.handle.net/11573/1349390
http://hdl.handle.net/11573/1349390
Publikováno v:
Section on Neonatal-Perinatal Medicine Program.
BACKGROUND: Premature infants are known to have a higher rate of false positive newborn screening (NBS) results that can lead to unnecessary additional blood testing, parental anxiety and increase in health care expense. Total parenteral nutrition (T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f108d569bcbf570eb74603f04cf3d6
https://doi.org/10.1542/peds.141.1_meetingabstract.554
https://doi.org/10.1542/peds.141.1_meetingabstract.554
Autor:
Radha Ramachandran, Katrin Õunap, Maja Stojiljkovic, Neslihan Önenli Mungan, Callum Wilson, Clara D.M. van Karnebeek, Vincenzo Leuzzi, Nenad Blau, Gwendolyn Gramer, Kimberly K. Powell, William B. Hanley, Carla E. M. Hollak, Miroslaw Bik-Multanowski, F. K. Trefz, Maja Djordjevic, K. Ahring, Jozef Hertecant, Fatma Derya Bulut, François Feillet, Annemiek M. J. van Wegberg, Danique van Vliet, Natalia Usurelu, Bozena Didycz, Kari Casas, Frank Rutsch, Jens V. Jørgensen, Maria Gizewska, Antonio Federico, Aria Setoodeh, Kathryn Moseley, Francesca Nardecchia, Francjan J. van Spronsen, Yuval Landau, Per Mathisen, Daniela Karall
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Orphanet Journal of Rare Diseases, 13, 149
Orphanet Journal of Rare Diseases, 13, 1, pp. 149
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 13(1):149. BioMed Central
Orphanet Journal of Rare Diseases, 13, 149
Orphanet Journal of Rare Diseases, 13, 1, pp. 149
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 13(1):149. BioMed Central
Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26eeba37bcb008737d1ce3ca537ceded
http://hdl.handle.net/11573/1141993
http://hdl.handle.net/11573/1141993