Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.

Autor: Law C; Queen's University School of Medicine, Kingston, Ontario, Canada.; Department of Ophthalmology, Queen's University and Kingston Health Sciences Centre, Kingston, Canada., Pattathil N; Queen's University School of Medicine, Kingston, Ontario, Canada., Simpson H; Department of Ophthalmology, Queen's University and Kingston Health Sciences Centre, Kingston, Canada., Ward MJ; Division of Ophthalmology, Department of Surgery, Chester County Hospital and Chester County Eye Care Associates, West Chester, Pennsylvania, USA., Lampen S; Queen's University School of Medicine, Kingston, Ontario, Canada., Kamath B; Division of Gastroenterology, Hepatology and Nutrition, Sick Kids Hospital, Toronto, Ontario, Canada., Aleman TS; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2024 Oct; Vol. 45 (5), pp. 522-531. Date of Electronic Publication: 2024 Jul 02.

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

Autor: Cerron-Vela CR; Department of Radiology, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA. cerronvelc@chop.edu., Tierradentro-García LO; Department of Radiology, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA., Rimba ZL; Department of Radiology, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA., Andronikou S; Department of Radiology, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.

Publikováno v: Neuroradiology [Neuroradiology] 2024 Aug; Vol. 66 (8), pp. 1325-1334. Date of Electronic Publication: 2024 Feb 24.

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.

Autor: Gilbert MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: gilbertma@chop.edu., Keefer-Jacques E; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Jadhav T; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Antfolk D; Department of Immunology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA., Ming Q; Department of Immunology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA., Valente N; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Shaw GT; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sottolano CJ; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA., Matwijec G; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Luca VC; Department of Immunology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA., Loomes KM; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA., Hayeck TJ; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA., Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1656-1672. Date of Electronic Publication: 2024 Jul 22.

[Expert consensus on diagnosis and treatment of Alagille syndrome associated liver disease (2024)].

Publikováno v: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Aug 02; Vol. 62 (8), pp. 706-714.

Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial.

Autor: Ovchinsky N; Pediatric Gastroenterology and Hepatology, Hassenfeld Children's Hospital, NYU Langone, New York, NY, USA., Aumar M; Univ Lille, CHU Lille, Pediatric Gastroenterology, Hepatology, and Nutrition, Inserm U1286 Infinite, CHU Lille Pôle Enfant, Lille, France., Baker A; Paediatric Liver Centre, King's College Hospital, London, UK. Electronic address: alastair.baker@nhs.net., Baumann U; Pediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Bufler P; Department of Pediatric Gastroenterology, Nephrology, and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany., Cananzi M; Pediatric Gastroenterology, Digestive Endoscopy, Hepatology, and Care of the Child With Liver Transplantation, Department of Children's and Women's Health, University Hospital of Padova, Padova, Italy., Czubkowski P; Department of Gastroenterology, Hepatology, Nutritional Disorders, and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Durmaz Ö; Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye., Fischer R; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Mercy Hospital, Kansas City, MO, USA., Indolfi G; Meyer Children's Hospital IRCCS, Florence, Italy., Karnsakul WW; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lacaille F; Pediatric Gastroenterology-Hepatology-Nutrition Unit, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Lee WS; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Maggiore G; Hepatology, Gastroenterology, Nutrition, Digestive Endoscopy, and Liver Transplantation Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Rosenthal P; Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, University of California San Francisco, San Francisco, CA, USA., Ruiz M; Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d'Hépato-gastroentérologie et Nutrition Pédiatrique, Bron, France., Sokal E; Université Catholique de Louvain, Cliniques St Luc, Service de Gastroentérologie et Hépatologie Pédiatrique, Brussels, Belgium., Sturm E; Pediatric Gastroenterology and Hepatology, University Children's Hospital Tübingen, Tübingen, Germany., van der Woerd W; Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands., Verkade HJ; Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Groningen, Beatrix Children's Hospital and University Medical Center Groningen, Groningen, Netherlands., Wehrman A; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, MA, USA., Clemson C; Ipsen, Cambridge, MA, USA., Yu Q; Ipsen, Cambridge, MA, USA., Ni Q; Ipsen, Cambridge, MA, USA., Ruvido J; Ipsen, Cambridge, MA, USA., Manganaro S; Ipsen, Cambridge, MA, USA., Mattsson JP; Ipsen, Cambridge, MA, USA.

Publikováno v: The lancet. Gastroenterology & hepatology [Lancet Gastroenterol Hepatol] 2024 Jul; Vol. 9 (7), pp. 632-645. Date of Electronic Publication: 2024 Apr 23.