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For: Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019;40:2197-2220. [PMID: 31343788 DOI: 10.1002/humu.23879] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 8.0] [Reference Citation Analysis]
Number Citing Articles
1 Friedrich RE, Zustin J, Luebke AM, Rosenbaum T, Gosau M, Hagel C, Kohlrusch FK, Wieland I, Zenker M. Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey. In Vivo 2021;35:1711-36. [PMID: 33910856 DOI: 10.21873/invivo.12431] [Reference Citation Analysis]
2 Mukherjee M, Fogarty E, Janga M, Surendran K. Notch Signaling in Kidney Development, Maintenance, and Disease. Biomolecules 2019;9:E692. [PMID: 31690016 DOI: 10.3390/biom9110692] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
3 Li D, Sheppard SE, Peroutka C, Barnes C, Reid JR, Smith CL, Dori Y, Hakonarson H. Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1. Clin Genet 2021;99:742-3. [PMID: 33433009 DOI: 10.1111/cge.13915] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
4 Adams JM, Jafar-Nejad H. The Roles of Notch Signaling in Liver Development and Disease. Biomolecules. 2019;9. [PMID: 31615106 DOI: 10.3390/biom9100608] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 5.7] [Reference Citation Analysis]
5 Cho SJ, Perito ER, Shafizadeh N, Kim GE. Dialogs in the assessment of neonatal cholestatic liver disease. Hum Pathol 2021;112:102-15. [PMID: 33359238 DOI: 10.1016/j.humpath.2020.12.007] [Reference Citation Analysis]
6 ShenTu Y, Mi X, Tang D, Jiang Y, Gao L, Ma X, Zhou B, Yang W, Shi J, Lan D, Chen G, Gong L. Alagille syndrome caused by NOTCH2 mutation presented atypical pathological changes. Clin Chim Acta 2021;521:258-63. [PMID: 34332988 DOI: 10.1016/j.cca.2021.07.026] [Reference Citation Analysis]
7 Paez-Escamilla M, Scanga HL, Liasis A, Nischal KK. Macular atrophy in JAG1-related Alagille syndrome: a case series. Ophthalmic Genet 2021;:1-5. [PMID: 34886763 DOI: 10.1080/13816810.2021.2004432] [Reference Citation Analysis]
8 Galvez D, Ruch B, Sharma A, Sydnor M, Levy M, Sharma A. Recurrent Hepatocellular Carcinoma in an Adult With Alagille Syndrome Treated With Liver Resection Followed by Liver Transplantation: A Rare Case Report. Transplant Direct 2020;6:e606. [PMID: 33134486 DOI: 10.1097/TXD.0000000000001055] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
9 Ibrahim SH, Kamath BM, Loomes KM, Karpen SJ. Cholestatic liver diseases of genetic etiology: Advances and controversies. Hepatology 2022;75:1627-46. [PMID: 35229330 DOI: 10.1002/hep.32437] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
10 Khairat R, El-karaksy H, El-bassyouni HT, Saad AK, Rabie E, Hamed K, Yassin NA. Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene. Egypt J Med Hum Genet 2022;23. [DOI: 10.1186/s43042-022-00241-9] [Reference Citation Analysis]
11 Ayoub MD, Kamath BM. Alagille Syndrome: Diagnostic Challenges and Advances in Management. Diagnostics (Basel) 2020;10:E907. [PMID: 33172025 DOI: 10.3390/diagnostics10110907] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
12 Kohut TJ, Gilbert MA, Loomes KM. Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment. Semin Liver Dis 2021. [PMID: 34215014 DOI: 10.1055/s-0041-1730951] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
13 Cheema MR, Stone LG, Sellar PW, Quinn S, Clark SC, Martin RJ, O'Brien JM, Warriner C, Browning AC. Long-term follow-up of a patient with JAG1-associated retinopathy. Doc Ophthalmol 2021. [PMID: 33877487 DOI: 10.1007/s10633-021-09836-w] [Reference Citation Analysis]
14 Bhadresha K, Patel M, Brahmbhatt J, Jain N, Rawal R. Targeting Bone Metastases Signaling Pathway Using Moringa oleifera Seed Nutri-miRs: A Cross Kingdom Approach. Nutr Cancer 2021;:1-18. [PMID: 34751606 DOI: 10.1080/01635581.2021.2001547] [Reference Citation Analysis]
15 Rajagopalan R, Gilbert MA, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, Spinner NB. Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results. Genet Med 2021;23:323-30. [PMID: 33077891 DOI: 10.1038/s41436-020-00989-8] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
16 Martinez Lyons A, Boulter L. The developmental origins of Notch-driven intrahepatic bile duct disorders. Dis Model Mech 2021;14:dmm048413. [PMID: 34549776 DOI: 10.1242/dmm.048413] [Reference Citation Analysis]
17 Satomura Y, Bessho K, Kitaoka T, Takeyari S, Ohata Y, Kubota T, Ozono K. Neonatal cholestasis can be the first symptom of McCune–Albright syndrome: A case report. World J Clin Pediatr 2021; 10(2): 7-14 [PMID: 33758748 DOI: 10.5409/wjcp.v10.i2.7] [Cited by in CrossRef: 2] [Article Influence: 2.0] [Reference Citation Analysis]
18 Schindler EA, Gilbert MA, Piccoli DA, Spinner NB, Krantz ID, Loomes KM. Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes. Am J Med Genet A 2021;185:719-31. [PMID: 33369123 DOI: 10.1002/ajmg.a.62028] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
19 Yang WH, Zhang L, Xue FS, Riaz A, Zhu ZJ. Pediatric Liver Transplantation for Alagille Syndrome: Anesthetic Evaluation and Perioperative Management. Ann Transplant 2020;25:e924282. [PMID: 33046687 DOI: 10.12659/AOT.924282] [Reference Citation Analysis]
20 da Palma MM, Igelman AD, Ku C, Burr A, You JY, Place EM, Wang NK, Oh JK, Branham KE, Zhang X, Ahn J, Gorin MB, Lam BL, Ronquillo CC, Bernstein PS, Nagiel A, Huckfeldt R, Cabrera MT, Kelly JP, Bakall B, Iannaccone A, Hufnagel RB, Zein WM, Koenekoop RK, Birch DG, Yang P, Fahim AT, Pennesi ME. Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome. Invest Ophthalmol Vis Sci 2021;62:27. [PMID: 34185059 DOI: 10.1167/iovs.62.7.27] [Reference Citation Analysis]
21 Huang H, Wang X, Guo AN, Li W, Duan RH, Fang JH, Yin B, Li DD. De novo brain arteriovenous malformation formation and development: A case report. World J Clin Cases 2022; 10(18): 6277-6282 [DOI: 10.12998/wjcc.v10.i18.6277] [Reference Citation Analysis]
22 Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet 2021;108:840-56. [PMID: 33861953 DOI: 10.1016/j.ajhg.2021.03.020] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
23 Sanchez P, Farkhondeh A, Pavlinov I, Baumgaertel K, Rodems S, Zheng W. Therapeutics Development for Alagille Syndrome. Front Pharmacol 2021;12:704586. [PMID: 34497511 DOI: 10.3389/fphar.2021.704586] [Reference Citation Analysis]
24 Tan EC, Lai AHM, Brett MSY. Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation. Am J Med Genet A 2022. [PMID: 35289498 DOI: 10.1002/ajmg.a.62724] [Reference Citation Analysis]
25 Hankeova S, Salplachta J, Zikmund T, Kavkova M, Van Hul N, Brinek A, Smekalova V, Laznovsky J, Dawit F, Jaros J, Bryja V, Lendahl U, Ellis E, Nemeth A, Fischler B, Hannezo E, Kaiser J, Andersson ER. DUCT reveals architectural mechanisms contributing to bile duct recovery in a mouse model for Alagille syndrome. Elife 2021;10:e60916. [PMID: 33635272 DOI: 10.7554/eLife.60916] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
26 Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019;40:2197-2220. [PMID: 31343788 DOI: 10.1002/humu.23879] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 8.0] [Reference Citation Analysis]
27 Ponikowska M, Pollak A, Kotwica-Strzalek E, Brodowska-Kania D, Mosakowska M, Ploski R, Niemczyk S. Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome. BMC Med Genet 2020;21:195. [PMID: 33008311 DOI: 10.1186/s12881-020-01134-7] [Reference Citation Analysis]
28 Rodrigues Bento J, Krebsová A, Van Gucht I, Valdivia Callejon I, Van Berendoncks A, Votypka P, Luyckx I, Peldova P, Laga S, Havelka M, Van Laer L, Trunecka P, Boeckx N, Verstraeten A, Macek M, Meester JAN, Loeys B. Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants. Hum Mutat 2022. [PMID: 35819173 DOI: 10.1002/humu.24433] [Reference Citation Analysis]
29 Anacleto MA, Melo CFR, Oliveira RP, da Silva LCP, Taitson PF. Alagille syndrome: Oral manifestations-A case report. Spec Care Dentist 2021;41:741-9. [PMID: 34213023 DOI: 10.1111/scd.12623] [Reference Citation Analysis]
30 Gilbert MA, Loomes KM. Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts. Transl Gastroenterol Hepatol 2021;6:22. [PMID: 33824926 DOI: 10.21037/tgh-2020-03] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
31 Shimohata H, Imagawa K, Yamashita M, Ohgi K, Maruyama H, Takayasu M, Hirayama K, Kobayashi M. An Adult Patient with Alagille Syndrome Showing Mainly Renal Failure and Vascular Abnormality without Liver Manifestation. Intern Med 2020;59:2907-10. [PMID: 32727995 DOI: 10.2169/internalmedicine.4780-20] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
32 Prochazková D, Borská R, Fajkusová L, Konečná P, Hloušková E, Pavlovský Z, Slabý O, Pospíšilová Š. Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic. Diagnostics (Basel) 2021;11:983. [PMID: 34071626 DOI: 10.3390/diagnostics11060983] [Reference Citation Analysis]