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Items: 1 to 20 of 28

1.
Predictors of 6-year event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor
Ronald J. Sokol, Emmanuel M. Gonzales, Binita M. Kamath, Alastair Baker, Pamela Vig, Douglas B. Mogul, Will Garner, Bettina E. Hansen, Emmanuel Jacquemin, Richard J. Thompson
Hepatology. 2023 Dec; 78(6): 1698–1710. Published online 2023 Jun 7. doi: 10.1097/HEP.0000000000000502
PMCID:
PMC10653287
AbstractArticlePDF–1.0M
2.
Management of adults with Alagille syndrome
Mohammed D. Ayoub, Ahmad A. Bakhsh, Shannon M. Vandriel, Verena Keitel, Binita M. Kamath
Hepatol Int. 2023 Oct; 17(5): 1098–1112. Published online 2023 Aug 16. doi: 10.1007/s12072-023-10578-x
PMCID:
PMC10522532
AbstractArticlePDF–789K
3.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
Jotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, Irene Valdivia Callejon, An Van Berendoncks, Pavel Votypka, Ilse Luyckx, Petra Peldova, Steven Laga, Marek Havelka, Lut Van Laer, Pavel Trunecka, Nele Boeckx, Aline Verstraeten, Milan Macek, Josephina A. N. Meester, Bart Loeys
Hum Mutat. 2022 Dec; 43(12): 1824–1828. Published online 2022 Jul 16. doi: 10.1002/humu.24433
PMCID:
PMC10084246
AbstractArticlePDF–1.1M
4.
Alagille Syndrome and Repeat Oxygenator Failure during Cardiopulmonary Bypass: A Word of Caution
Ashley C. Moore, Kyle N. Sieck, Sarah J. Lojovich, Roger P. Mueller, Jason E. Windle, Sameh M. Said
J Extra Corpor Technol. 2022 Dec; 54(4): 338–342. doi: 10.1182/ject-2200022
PMCID:
PMC9891473
AbstractArticlePDF–352K
5.
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
Shannon M. Vandriel, Li‐Ting Li, Huiyu She, Jian‐She Wang, Melissa A. Gilbert, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz‐Miedzińska, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Nancy B. Spinner, Kathleen M. Loomes, David A. Piccoli, Lorenzo D'Antiga, Emanuele Nicastro, Étienne Sokal, Tanguy Demaret, Noelle H. Ebel, Jeffrey A. Feinstein, Rima Fawaz, Silvia Nastasio, Florence Lacaille, Dominique Debray, Henrik Arnell, Björn Fischler, Susan Siew, Michael Stormon, Saul J. Karpen, Rene Romero, Kyung Mo Kim, Woo Yim Baek, Winita Hardikar, Sahana Shankar, Amin J. Roberts, Helen M. Evans, M. Kyle Jensen, Marianne Kavan, Shikha S. Sundaram, Alexander Chaidez, Palaniswamy Karthikeyan, Maria Camila Sanchez, Maria Lorena Cavalieri, Henkjan J. Verkade, Way Seah Lee, James E. Squires, Christina Hajinicolaou, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Catherine Larson‐Nath, Yael Mozer‐Glassberg, Cigdem Arikan, Henry C. Lin, Jesus Quintero Bernabeu, Seema Alam, Deirdre A. Kelly, Elisa Carvalho, Cristina Targa Ferreira, Giuseppe Indolfi, Ruben E. Quiros‐Tejeira, Pinar Bulut, Pier Luigi Calvo, Zerrin Önal, Pamela L. Valentino, Dev M. Desai, John Eshun, Maria Rogalidou, Antal Dezsőfi, Sabina Wiecek, Gabriella Nebbia, Raquel Borges Pinto, Victorien M. Wolters, María Legarda Tamara, Andréanne N. Zizzo, Jennifer Garcia, Kathleen Schwarz, Marisa Beretta, Thomas Damgaard Sandahl, Carolina Jimenez‐Rivera, Nanda Kerkar, Jernej Brecelj, Quais Mujawar, Nathalie Rock, Cristina Molera Busoms, Wikrom Karnsakul, Eberhard Lurz, Ermelinda Santos‐Silva, Niviann Blondet, Luis Bujanda, Uzma Shah, Richard J. Thompson, Bettina E. Hansen, Binita M. Kamath
Hepatology. 2023 Feb; 77(2): 512–529. Published online 2022 Oct 13. doi: 10.1002/hep.32761
PMCID:
PMC9869940
AbstractArticlePDF–1.0M
6.
Genetic insights into non-syndromic Tetralogy of Fallot
Nouf J. Althali, Kathryn E. Hentges
Front Physiol. 2022; 13: 1012665. Published online 2022 Oct 6. doi: 10.3389/fphys.2022.1012665
PMCID:
PMC9582763
AbstractArticlePDF–971K
7.
Impact of long‐term administration of maralixibat on children with cholestasis secondary to Alagille syndrome
Benjamin L. Shneider, Catherine A. Spino, Binita M. Kamath, John C. Magee, Rosalinda V. Ignacio, Suiyuan Huang, Simon P. Horslen, Jean P. Molleston, Alexander G. Miethke, Rohit Kohli, Daniel H. Leung, M. Kyle Jensen, Kathleen M. Loomes, Saul J. Karpen, Cara Mack, Philip Rosenthal, Robert H. Squires, Alastair Baker, Sanjay Rajwal, Deirdre Kelly, Ronald J. Sokol, Richard J. Thompson, for ChiLDReN and UK IMAGO/IMAGINE Investigators
Hepatol Commun. 2022 Aug; 6(8): 1922–1933. Published online 2022 Jun 7. doi: 10.1002/hep4.1992
PMCID:
PMC9315125
AbstractArticlePDF–1.4M
8.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
AbstractArticlePDF–776K
9.
Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver
Daniel H. Leung, Lisa G. Sorensen, Wen Ye, Kieran Hawthorne, Vicky L. Ng, Kathleen M. Loomes, Emily M. Fredericks, Estella M. Alonso, James E. Heubi, Simon P. Horslen, Saul J. Karpen, Jean P. Molleston, Philip Rosenthal, Ronald J. Sokol, Robert H. Squires, Kasper S. Wang, Binita M. Kamath, John C. Magee
J Pediatr Gastroenterol Nutr. 2022 Jan; 74(1): 96–103. Published online 2021 Oct 22. doi: 10.1097/MPG.0000000000003337
PMCID:
PMC8673857
AbstractArticlePDF–570K
10.
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
Mariana Matioli da Palma, Austin D. Igelman, Cristy Ku, Amanda Burr, Jia Yue You, Emily M. Place, Nan-Kai Wang, Jin Kyun Oh, Kari E. Branham, Xinxin Zhang, Jeeyun Ahn, Michael B. Gorin, Byron L. Lam, Cecinio C. Ronquillo, Paul S. Bernstein, Aaron Nagiel, Rachel Huckfeldt, Michelle T. Cabrera, John P. Kelly, Benjamin Bakall, Alessandro Iannaccone, Robert B. Hufnagel, Wadih M. Zein, Robert K. Koenekoop, David G. Birch, Paul Yang, Abigail T. Fahim, Mark E. Pennesi
Invest Ophthalmol Vis Sci. 2021 Jun; 62(7): 27. Published online 2021 Jun 29. doi: 10.1167/iovs.62.7.27
PMCID:
PMC8254011
AbstractArticlePDF–3.3M
11.
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes
Emma A. Schindler, Melissa A. Gilbert, David A. Piccoli, Nancy B. Spinner, Ian D. Krantz, Kathleen M. Loomes
Am J Med Genet A. 2021 Mar; 185(3): 719–731. Published online 2020 Dec 24. doi: 10.1002/ajmg.a.62028
PMCID:
PMC7898517
AbstractArticlePDF–2.0M
12.
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
Ramakrishnan Rajagopalan, Melissa A. Gilbert, Deborah A. McEldrew, James A. Nassur, Kathleen M. Loomes, David A. Piccoli, Ian D. Krantz, Laura K. Conlin, Nancy B. Spinner
Genet Med. 2021; 23(2): 323–330. Published online 2020 Oct 20. doi: 10.1038/s41436-020-00989-8
PMCID:
PMC7862053
AbstractArticlePDF–1.0M
13.
Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts
Melissa A. Gilbert, Kathleen M. Loomes
Transl Gastroenterol Hepatol. 2021; 6: 22. Published online 2021 Apr 5. doi: 10.21037/tgh-2020-03
PMCID:
PMC7838527
AbstractArticlePDF–784K
14.
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
Melissa A. Gilbert, Robert C. Bauer, Ramakrishnan Rajagopalan, Christopher M. Grochowski, Grace Chao, Deborah McEldrew, James A. Nassur, Elizabeth B. Rand, Bryan L. Krock, Binita M. Kamath, Ian D. Krantz, David A. Piccoli, Kathleen M. Loomes, Nancy B. Spinner
Hum Mutat. 2019 Dec; 40(12): 2197–2220. Published online 2019 Aug 26. doi: 10.1002/humu.23879
PMCID:
PMC6899717
AbstractArticlePDF–2.1M
15.
Bone Density in Children with Chronic Liver Disease Correlates with Growth and Cholestasis
Kathleen M. Loomes, Cathie Spino, Nathan P. Goodrich, Thomas N. Hangartner, Amanda E. Marker, James E. Heubi, Binita M. Kamath, Benjamin L. Shneider, Philip Rosenthal, Paula M. Hertel, Saul J. Karpen, Jean P. Molleston, Karen F. Murray, Kathleen B. Schwarz, Robert H. Squires, Jeffrey Teckman, Yumirle P. Turmelle, Estella M. Alonso, Averell H. Sherker, John C. Magee, Ronald J. Sokol
Hepatology. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: Hepatology. 2019 Jan; 69(1): 245–257. Published online 2018 Dec 27. doi: 10.1002/hep.30196
PMCID:
PMC6324969
AbstractArticlePDF–493K
16.
Placebo‐Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome
Benjamin L. Shneider, Cathie Spino, Binita M. Kamath, John C. Magee, Lee M. Bass, Kenneth D. Setchell, Alexander Miethke, Jean P. Molleston, Cara L. Mack, Robert H. Squires, Karen F. Murray, Kathleen M. Loomes, Philip Rosenthal, Saul J. Karpen, Daniel H. Leung, Stephen L. Guthery, Danny Thomas, Averell H. Sherker, Ronald J. Sokol, for the Childhood Liver Disease Research Network
Hepatol Commun. 2018 Oct; 2(10): 1184–1198. Published online 2018 Sep 24. doi: 10.1002/hep4.1244
PMCID:
PMC6167076
AbstractArticlePDF–771K
17.
Early Life Predictive Markers of Liver Disease Outcome in an International, Multi-Center Cohort of Children with Alagille Syndrome
Marialena Mouzaki, Lee M. Bass, Ronald J. Sokol, David A. Piccoli, Claudia Quammie, Kathleen M. Loomes, James E. Heubi, Paula M. Hertel, Rene Scheenstra, Katryn Furuya, Erika Kutsch, Nancy B. Spinner, Kristen N. Robbins, Veena Venkat, Philip Rosenthal, Joseph Beyene, Alastair Baker, Binita M. Kamath
Liver Int. Author manuscript; available in PMC 2017 May 1.
Published in final edited form as: Liver Int. 2016 May; 36(5): 755–760. Published online 2015 Aug 18. doi: 10.1111/liv.12920
PMCID:
PMC5401769
AbstractArticlePDF–356K
18.
Alagille syndrome: clinical perspectives
Maha Saleh, Binita M Kamath, David Chitayat
Appl Clin Genet. 2016; 9: 75–82. Published online 2016 Jun 30. doi: 10.2147/TACG.S86420
PMCID:
PMC4935120
AbstractArticlePDF–1.0M
19.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
20.
Quality of Life and its Determinants in a Multi-Center Cohort of Children with Alagille Syndrome
Binita M. Kamath, Zhen Chen, Rene Romero, Emily M. Fredericks, Estella M. Alonso, Ronen Arnon, James Heubi, Paula M. Hertel, Saul J. Karpen, Kathleen M. Loomes, Karen F. Murray, Philip Rosenthal, Kathleen B. Schwarz, Girish Subbarao, Jeffrey H. Teckman, Yumirle P. Turmelle, Kasper S. Wang, Averell H. Sherker, Ronald J. Sokol, John C. Magee
J Pediatr. Author manuscript; available in PMC 2016 Aug 1.
Published in final edited form as: J Pediatr. 2015 Aug; 167(2): 390–396.e3. Published online 2015 Jun 6. doi: 10.1016/j.jpeds.2015.04.077
PMCID:
PMC4516587
AbstractArticlePDF–362K

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