Works matching Alagille syndrome

Results: 521

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

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

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

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

Alagille syndrome with prominent skin manifestations.

Published in:

2005

By:

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

Publication type:

journal 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

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

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 and pregnancy.

Published in:

Obstetric Medicine (1753-495X), 2021, v. 14, n. 1, p. 39, doi. 10.1177/1753495X19849738

By:

Morton, Adam;
Kumar, Sailesh

Publication type:

Article

Spectrum of cerebral arterial and venous abnormalities in Alagille syndrome.

Published in:

2018

By:

Carpenter, Candice D.;
Linscott, Luke L.;
Leach, James L.;
Vadivelu, Sudhakar;
Abruzzo, Todd

Publication type:

journal article

Giant hepatic regenerative nodules in Alagille syndrome.

Published in:

2017

By:

Rapp, Jordan;
Bellah, Richard;
Maya, Carolina;
Pawel, Bruce;
Anupindi, Sudha;
Rapp, Jordan B;
Bellah, Richard D;
Pawel, Bruce R;
Anupindi, Sudha A

Publication type:

journal article

CT-defined phenotype of pulmonary artery stenoses in Alagille syndrome.

Published in:

2016

By:

Rodriguez, Renee;
Feinstein, Jeffrey;
Chan, Frandics;
Rodriguez, Renee M;
Feinstein, Jeffrey A;
Chan, Frandics P

Publication type:

journal article

Alagille Syndrome and Repeat Oxygenator Failure during Cardiopulmonary Bypass: A Word of Caution.

Published in:

Journal of Extra-Corporeal Technology, 2022, v. 54, n. 4, p. 338, doi. 10.1051/ject/202254338

By:

Moore, Ashley C.;
Sieck, Kyle N.;
Lojovich, Sarah J.;
Mueller, Roger P.;
Windle, Jason E.;
Said, Sameh M.

Publication type:

Article

Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.

Published in:

Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0617-y

By:

Pinon, Michele;
Carboni, Michele;
Colavito, Davide;
Cisarò, Fabio;
Peruzzi, Licia;
Pizzol, Antonio;
Calosso, Giulia;
David, Ezio;
Calvo, Pier Luigi

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

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

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

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

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

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

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

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

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

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

Published in:

2023

By:

Sameer, Marwa;
Ben Turkia, Hadhami

Publication type:

Case Study

Combined Open‑Heart Surgery and Living Donor Liver Transplantation in a 4‑Year‑Old Child with Alagille Syndrome - A Case Report.

Published in:

Indian Journal of Transplantation, 2022, v. 16, n. 3, p. 331, doi. 10.4103/ijot.ijot_42_22

By:

Punjala, Sai Rithin;
Reddy, L. Sasidhar;
Balasubramanyam, Manjunath;
Varma, Manish Chandra

Publication type:

Article

Kidney and vascular involvement in Alagille syndrome.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 4, p. 891, doi. 10.1007/s00467-024-06562-8

By:

Ranchin, Bruno;
Meaux, Marie-Noelle;
Freppel, Malo;
Ruiz, Mathias;
De Mul, Aurelie

Publication type:

Article

JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.

Published in:

Molecular Medicine Reports, 2018, v. 18, n. 2, p. 2356, doi. 10.3892/mmr.2018.9217

By:

Zhang, Erge;
Xu, Yuejuan;
Yu, Yongguo;
Chen, Sun;
Yu, Yu;
Sun, Kun

Publication type:

Article

Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 5, p. 6876, doi. 10.3892/mmr.2017.7429

By:

TIANHONG HUANG;
XIAO DANG;
JIANKANG LI;
GUILIN YANG;
FEIJIAN AO;
YIZHOU HE;
QIYUAN TANG;
QING HE

Publication type:

Article

Alagilleův syndrom.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2014, v. 69, n. 4, p. 241

By:

Dědič, T.;
Jirsa, M.;
Kotalová, R.

Publication type:

Article

Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.

Published in:

2018

By:

Kamath, Binita M.;
Baker, Alastair;
Houwen, Roderick;
Todorova, Lora;
Kerkar, Nanda;
Kamath, B M;
Baker, A;
Houwen, R;
Todorova, L;
Kerkar, N

Publication type:

journal article

Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation.

Published in:

2017

By:

Kohaut, Jules;
Pommier, Romain;
Guerin, Florent;
Pariente, Danièle;
Jacquemin, Emmanuel;
Martelli, Hélène;
Branchereau, Sophie

Publication type:

journal article

Solitary Hepatic Nodule Adjacent to the Right Portal Vein: A Common Finding of Alagille Syndrome?

Published in:

2016

By:

Alhammad, Abdullah;
Kamath, Binita M.;
Chami, Rose;
Ng, Vicky L.;
Chavhan, Govind B.

Publication type:

journal article

Outcome of Alagille Syndrome Patients Who Had Previously Received Kasai Operation during Infancy: A Single Center Study.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2015, v. 18, n. 3, p. 175, doi. 10.5223/pghn.2015.18.3.175

By:

Hwa Pyung Lee;
Ben Kang;
So Yoon Choi;
Sanghoon Lee;
Suk-Koo Lee;
Yon Ho Choe

Publication type:

Article

Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis.

Published in:

2018

By:

Fujishiro, Jun;
Suzuki, Kan;
Watanabe, Miho;
Uotani, Chizue;
Takezoe, Toshiko;
Takamoto, Naohiro;
Hayashi, Kentaro

Publication type:

journal article

Impact of Percutaneous Interventions for Pulmonary Artery Stenosis in Alagille Syndrome.

Published in:

Congenital Heart Disease, 2015, v. 10, n. 4, p. 310, doi. 10.1111/chd.12219

By:

Zussman, Matthew;
Hirsch, Russel;
Beekman, Robert H.;
Goldstein, Bryan H.

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

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

Asymmetric Lateral Rectus Muscle Insertion Presenting as Esotropia in a Child With Alagille Syndrome.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2018, v. 55, n. 6, p. e36, doi. 10.3928/01913913-20181012-01

By:

Seung Pil Bang;
Dong Cheol Lee;
Se Youp Lee

Publication type:

Article

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.

Published in:

PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0143939

By:

Dědič, Tomáš;
Jirsa, Milan;
Keil, Radan;
Rygl, Michal;
Šnajdauf, Jiri;
Kotalová, Radana

Publication type:

Article

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.

Published in:

2016

By:

Bresnahan, James J.;
Winthrop, Zachary A.;
Salman, Rabia;
Majeed, Salman

Publication type:

Case Study

A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.

Published in:

2018

By:

Reyes-de la Rosa, Alejandra del Pilar;
Varela-Fascinetto, Gustavo;
García-Delgado, Constanza;
Vázquez-Martínez, Edgar Ricardo;
Valencia-Mayoral, Pedro;
Cerbón, Marco;
Morán-Barroso, Verónica Fabiola

Publication type:

Case Study

Clinicians discuss different paths to diagnosing Alagille syndrome.

Published in:

Contemporary Pediatrics, 2022, v. 39, n. 7, p. 10

By:

HOBBINS, KATIE

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

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

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

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

Clinical utility gene card for: Alagille Syndrome (ALGS).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.140

By:

Leonard, Laura D;
Chao, Grace;
Baker, Alastair;
Loomes, Kathleen;
Spinner, Nancy B

Publication type:

Article

Alagille Syndrome and Its Clinical and Laboratory Features: A Case Report.

Published in:

Livers, 2022, v. 2, n. 4, p. 258, doi. 10.3390/livers2040021

By:

Abenavoli, Ludovico;
Boccuto, Luigi;
Corea, Alessandro;
Gambardella, Marialuisa;
Spagnuolo, Rocco;
Luzza, Francesco

Publication type:

Article