Works matching DE "ALAGILLE syndrome"

Results: 113

Alagille syndrome case report: implications for forensic pathology and anthropology.

Published in:

International Journal of Legal Medicine, 2015, v. 129, n. 3, p. 543, doi. 10.1007/s00414-014-1072-3

By:

Petaros, Anja;
Miletic, Damir;
Stifter, Sanja;
Slaus, Mario;
Stemberga, Valter

Publication type:

Article

Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation.

Published in:

2013

By:

Hayashi, Norifumi;
Okuyama, Hiroshi;
Matsui, Yuki;
Yamaya, Hideki;
Kinoshita, Eriko;
Minato, Hiroshi;
Niida, Yo;
Yokoyama, Hitoshi

Publication type:

Case Study

A 3-year-old girl with underlying Alagille syndrome, presenting with generalized whitish papules.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 3, p. 339, doi. 10.1111/ced.12494

By:

Tempark, T.;
Chatproedprai, S.;
Wititsuwannakul, J.;
Wananukul, S.

Publication type:

Article

Alagille syndrome: clinical perspectives.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 75, doi. 10.2147/TACG.S86420

By:

Saleh, Maha;
Kamath, Binita M.;
Chitayat, David

Publication type:

Article

Successful living donor liver transplantation after stent implantation in a patient with Alagille syndrome and severe bilateral pulmonary artery stenosis.

Published in:

2018

By:

Akagi, Kentaro;
Tanaka, Toshikatsu;
Baba, Shiro

Publication type:

journal article

Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.

Published in:

2016

By:

Ziesenitz, Victoria C.;
Loukanov, Tsvetomir;
Gläser, Christiane;
Gorenflo, Matthias;
Gläser, Christiane

Publication type:

journal article

Patient-specific modeling of right coronary circulation vulnerability post-liver transplant in Alagille’s syndrome.

Published in:

PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0205829

By:

Silva Vieira, Miguel;
Arthurs, Christopher J.;
Hussain, Tarique;
Razavi, Reza;
Figueroa, Carlos Alberto

Publication type:

Article

Novel use of the double kissing crush technique to stent complex pulmonary artery stenosis in a child with Alagille syndrome.

Published in:

Annals of Pediatric Cardiology, 2023, v. 16, n. 4, p. 290, doi. 10.4103/apc.apc_60_23

By:

Strah, Danielle;
Hellinger, Riley;
Lee, Kwan;
Seckeler, Michael

Publication type:

Article

Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.

Published in:

2017

By:

Ohashi, Kei;
Togawa, Takao;
Sugiura, Tokio;
Ito, Koichi;
Endo, Takeshi;
Aoyama, Kohei;
Negishi, Yutaka;
Kudo, Toyoichiro;
Ito, Reiko;
Saitoh, Shinji

Publication type:

journal article

Neonatal Jaundice with Splenomegaly: Not a Common Pick.

Published in:

2017

By:

Gotti, Giacomo;
Marseglia, Antonio;
De Giacomo, Costantino;
Iascone, Maria;
Sonzogni, Aurelio;
D’Antiga, Lorenzo

Publication type:

Case Study

Neonatal Jaundice with Splenomegaly: Not a Common Pick.

Published in:

2016

By:

Gotti, Giacomo;
Marseglia, Antonio;
De Giacomo, Costantino;
Iascone, Maria;
Sonzogni, Aurelio;
D'Antiga, Lorenzo

Publication type:

Case Study

Alagille syndrome with prominent skin manifestations.

Published in:

2005

By:

Sengupta, Sujata;
Das, Jayanta Kumar;
Gangopadhyay, Asok

Publication type:

journal article

Pattern of ocular manifestations in Egyptian infants with cholestatic disorders.

Published in:

Journal of the Egyptian Ophthalmological Society, 2016, v. 109, n. 3, p. 98, doi. 10.4103/2090-0686.202257

By:

Khalil, Dalia H.;
El-Karaksy, Hanaa M.;
Fouad, Hanan;
Mogahed, Engy;
Helmy, Heba

Publication type:

Article

Williams syndrome presenting with findings consistent with Alagille syndrome.

Published in:

Clinical Case Reports, 2015, v. 3, n. 1, p. 24, doi. 10.1002/ccr3.138

By:

Sakhuja, Pankaj;
Whyte, Hilary;
Kamath, Binita;
Martin, Nicole;
Chitayat, David

Publication type:

Article

Acquired right diaphragmatic hernia following pediatric living donor orthotopic liver transplantation.

Published in:

Pediatric Transplantation, 2015, v. 19, n. 6, p. E149, doi. 10.1111/petr.12548

By:

Dökümcü, Zafer;
Divarcı, Emre;
Erdener, Ata;
Sözbilen, Murat;
Ergün, Orkan

Publication type:

Article

Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome.

Published in:

Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2018.01194

By:

Delaney, Siobhan;
O'Connor, Ged;
Reardon, William;
Murphy, Stephen J. X.;
Tierney, Sean;
Ryan, Barbara M.;
Delaney, Holly;
Doherty, Colin P.;
Guiney, Michael;
Brennan, Paul;
Tobin, W. Oliver;
McCabe, Dominick J. H.

Publication type:

Article

Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts.

Published in:

European Journal of Oral Sciences, 2016, v. 124, n. 3, p. 241, doi. 10.1111/eos.12270

By:

Fang, JingXian;
Yamaza, Haruyoshi;
Uchiumi, Takeshi;
Hoshino, Yoshihiro;
Masuda, Keiji;
Hirofuji, Yuta;
Wagener, Frank A. D. T. G.;
Kang, Dongchon;
Nonaka, Kazuaki

Publication type:

Article

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130355

By:

Li, Liting;
Dong, Jibin;
Wang, Xiaohong;
Guo, Hongmei;
Wang, Huijun;
Zhao, Jing;
Qiu, Yiling;
Abuduxikuer, Kuerbanjiang;
Wang, Jianshe

Publication type:

Article

Italian guidelines for the management and treatment of neonatal cholestasis.

Published in:

Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0178-7

By:

Dani, Carlo;
Pratesi, Simone;
Raimondi, Francesco;
Romagnoli, Costantino

Publication type:

Article

A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.

Published in:

Indian Pediatrics, 2016, v. 53, n. 12, p. 1099

By:

SHARMA, ANJALI;
PODDAR, UJJAL;
AGNIHOTRY, SHIKHA;
AGGARWAL, RAKESH

Publication type:

Article

Interventional strategies in the management of peripheral pulmonary artery stenosis.

Published in:

2003

By:

TRIVEDI, KALYANI R;
BENSON, LEE N

Publication type:

journal article

Identification of Bile Duct Paucity in Alagille Syndrome: Using CK7 and EMA Immunohistochemistry as a Reliable Panel for Accurate Diagnosis.

Published in:

Pediatric & Developmental Pathology, 2016, v. 19, n. 1, p. 47, doi. 10.2350/15-05-1628-OA.1

By:

HERMAN, HALEY K.;
ABRAMOWSKY, CARLOS R.;
CALTHARP, SHELLEY;
METRY, DIANA;
CUNDIFF, CAITLIN A.;
ROMERO, RENE;
GILLESPIE, SCOTT E.;
SHEHATA, BAHIG M.

Publication type:

Article

Evolution of cerebrovascular imaging and associated clinical findings in children with Alagille syndrome.

Published in:

Neuroradiology, 2024, v. 66, n. 8, p. 1325, doi. 10.1007/s00234-024-03316-z

By:

Cerron-Vela, Carmen Rosa;
Tierradentro-García, Luis Octavio;
Rimba, Zekordavar Lavadka;
Andronikou, Savvas

Publication type:

Article

An eight-year prospective controlled study about the safety and diagnostic value of cardiac and non-cardiac 1.5-T MRI in patients with a conventional pacemaker or a conventional implantable cardioverter defibrillator.

Published in:

2018

By:

Lupo, Pierpaolo;
Cappato, Riccardo;
Di Leo, Giovanni;
Secchi, Francesco;
Papini, Giacomo D. E.;
Foresti, Sara;
Ali, Hussam;
De Ambroggi, Guido M. G.;
Sorgente, Antonio;
Epicoco, Gianluca;
Cannaò, Paola M.;
Sardanelli, Francesco

Publication type:

journal article

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.

Published in:

2021

By:

FRIEDRICH, REINHARD E.;
ZUSTIN, JOZEF;
LUEBKE, ANDREAS M.;
ROSENBAUM, THORSTEN;
GOSAU, MARTIN;
HAGEL, CHRISTIAN;
KOHLRUSCH, FELIX K.;
WIELAND, ILSE;
ZENKER, MARTIN

Publication type:

Case Study

Unusual Clinical Manifestations in a Case of Alagille Syndrome.

Published in:

Pediatric Dermatology, 2014, v. 31, n. 5, p. 599, doi. 10.1111/pde.12132

By:

Gadkari, Reshma;
Doshi, Bhavana;
Nayak, Chitra;
Ghildiyal, Radha;
Madke, Bhushan;
Ghia, Deepti

Publication type:

Article

Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice.

Published in:

2014

By:

Tibesar, Eric;
Karwowski, Christine;
Hertel, Paula;
Scheimann, Ann;
Karnsakul, Wikrom

Publication type:

Case Study

Direct Hyperbilirubinemia in an Infant.

Published in:

2017

By:

Magyar, Matthew A.;
Metropulos, Diana;
Antoon, James W.

Publication type:

Case Study

Case report: Recurrent intracranial bleeds in the setting of Alagille syndrome.

Published in:

International Journal of Child Health & Human Development, 2021, v. 14, n. 1, p. 103

By:

Kazi, Rasha;
Han, Katherine;
Fakhoury, Joseph;
Beck, Robert;
Patel, Dilip R.

Publication type:

Article

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 85, doi. 10.1111/cge.13382

By:

Meester, J.A.N.;
Verstraeten, A.;
Alaerts, M.;
Schepers, D.;
Van Laer, L.;
Loeys, B.L.

Publication type:

Article

Macrodontic maxillary incisor in alagille syndrome.

Published in:

Dental Research Journal, 2012, v. 9, n. 8, Supp 2, p. S251

By:

Cozzani, Mauro;
Fontana, Mattia

Publication type:

Article

CONTINUING EDUCATION. HOME STUDY ACTIVITIES.

Published in:: Neonatal Network, 2017, v. 36, n. 6, p. 388, doi. 10.1891/0730-0832.36.6.388
Publication type:: Article

Alagille Syndrome: An Overview.

Published in:

Neonatal Network, 2017, v. 36, n. 6, p. 343, doi. 10.1891/0730-0832.36.6.343

By:

Jesina, Dalacy

Publication type:

Article

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D): Review of 16 Pediatric Cases and a Proposal of Modified Pediatric Criteria.

Published in:

Pediatric Cardiology, 2016, v. 37, n. 4, p. 646, doi. 10.1007/s00246-015-1327-x

By:

Deshpande, Shriprasad;
Herman, Haley;
Quigley, Phillip;
Shinnick, Julia;
Cundiff, Caitlin;
Caltharp, Shelley;
Shehata, Bahig

Publication type:

Article

Atherosclerosis Causing Recurrent Catastrophic Aortopulmonary Shunt Dehiscence in a Patient with Alagille Syndrome.

Published in:

2013

By:

May, L.;
Hanley, F. L.;
Connolly, A. J.;
Reddy, S.

Publication type:

Case Study

Ductal plates in hepatic ductular reactions. Hypothesis and implications. III. Implications for liver pathology.

Published in:

2011

By:

Desmet, Valeer J.

Publication type:

journal article

Xanthogranulomatous osteomyelitis of the humerus in a pediatric patient with Alagille syndrome: a case report and literature review.

Published in:

2017

By:

Cheema, Adnan;
Arkader, Alexandre;
Pawel, Bruce

Publication type:

journal article

Perioperative Anesthetic Management of Patients Having Liver Transplantation for Uncommon Conditions.

Published in:

2018

By:

Bonavia, Anthony;
Pachuski, Justin;
Bezinover, Dmitri

Publication type:

journal article

Renal‐hepatic‐pancreatic dysplasia‐1 diagnosed on comprehensive gene analysis.

Published in:

2019

By:

Inaguma, Yosuke;
Kaito, Hiroshi;
Morisada, Naoya;
Iijima, Kazumoto;
Tanaka, Ryojiro

Publication type:

Case Study

Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.

Published in:

Pediatrics International, 2015, v. 57, n. 4, p. 552, doi. 10.1111/ped.12602

By:

Cho, Jin Min;
Oh, Seak Hee;
Kim, Hyun Jin;
Kim, Joon Sung;
Kim, Kyung Mo;
Kim, Gu‐Hwan;
Yu, Eunsil;
Lee, Beom Hee;
Yoo, Han‐Wook

Publication type:

Article

A case report of bile duct paucity in an infant with trisomy 18.

Published in:

Canadian Journal of Pathology, 2017, v. 9, p. 20

By:

MacColl, Christine E.;
Arredondo, Jorge;
Mohamed, Sarab;
Bozanovic, Radenka

Publication type:

Article

Síndrome de Karsch-Neugebauer: Reporte de caso.

Published in:

Ginecología y Obstetricia de México, 2023, v. 91, n. 10, p. 774, doi. 10.24245/gom.v91i10.8918

By:

Sandoval Quiñonez, Paul Alberto;
Naranjo González, María Luisa;
Lianes, Joel Murillo;
Favela Heredia, César Enrique;
Ordorica, Dalia Magaña;
Quintero, Paul González;
Ortiz, Fred Morgan;
Gámez Meza, Alán Hamid;
Castro Apodaca, Francisco Javier

Publication type:

Article

Clinical characteristics and outcome of liver transplantation for Alagille syndrome in children.

Published in:

2017

By:

Zhou, Tao;
Zhang, Jian Jun;
Luo, Yi;
Liu, Yuan;
Zhuang, Shao Yong;
Xue, Feng;
Han, Long Zhi;
Xia, Qiang

Publication type:

Case Study

Compound heterozygous mutations of ABCB11 responsible for benign recurrent intrahepatic cholestasis.

Published in:

Journal of Digestive Diseases, 2015, v. 16, n. 5, p. 299, doi. 10.1111/1751-2980.12227

By:

Tai, Yang;
Xie, Yan;
Tang, Cheng Wei

Publication type:

Article

Bickerstaff brainstem encephalitis in pediatrics - A case report.

Published in:

2013

By:

Prasad, K. N. Venkateshwara;
Venkatesh, K. S.;
Devi, N. Gayatri

Publication type:

Letter

Evidence-based Management of Atrial Fibrillation in the Emergency Department.

Published in:

Emergency Medicine Reports, 2018, v. 39, n. 7, p. 77

By:

Matuskowitz, Andrew J.;
Abukhdeir, Hesham;
Weant, Kyle;
Calhoun, Chara;
Domangue, Brant;
Caporossi, Jeffrey

Publication type:

Article

Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome.

Published in:

Liver International, 2016, v. 36, n. 5, p. 755, doi. 10.1111/liv.12920

By:

Mouzaki, Marialena;
Bass, Lee M.;
Sokol, Ronald J.;
Piccoli, David A.;
Quammie, Claudia;
Loomes, Kathleen M.;
Heubi, James E.;
Hertel, Paula M.;
Scheenstra, Rene;
Furuya, Katryn;
Kutsch, Erika;
Spinner, Nancy B.;
Robbins, Kristen N.;
Venkat, Veena;
Rosenthal, Philip;
Beyene, Joseph;
Baker, Alastair;
Kamath, Binita M.

Publication type:

Article

Identification of a Novel c.3080delC JAG1 Gene Mutation Associated With Alagille Syndrome: Whole Exome Sequencing.

Published in:

JMIR Bioinformatics & Biotechnology, 2022, v. 3, n. 1, p. 1, doi. 10.2196/33946

By:

Panwar, Deepak;
Lal, Vandana;
Thatai, Atul

Publication type:

Article

Alagille Syndrome: Challenging Diagnosis and Prognostic Factors, A Case Report.

Published in:

2023

By:

Sameer, Marwa;
Ben Turkia, Hadhami

Publication type:

Case Study

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.

Published in:

Cancers, 2022, v. 14, n. 14, p. N.PAG, doi. 10.3390/cancers14143421

By:

Vitale, Giovanni;
Mattiaccio, Alessandro;
Conti, Amalia;
Turco, Laura;
Seri, Marco;
Piscaglia, Fabio;
Morelli, Maria Cristina

Publication type:

Article