Results 121 to 130 of about 293,955 (289)

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Hepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
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, The Global ALagille Alliance (GALA) Study Group   +93 more
wiley   +1 more source

Autosomal dominant macrothrombocytopenia caused by a rare GPIBB variant : the importance of DNA sequencing [PDF]

, 2020
De Kesel, Pieter, Debussche, Sarah, Devreese, Katrien, Dierick, Jan, Freson, Kathleen, Luyckx, Ariane, Vantilborgh, Anna   +6 more
core   +2 more sources

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Epigenetic editing for autosomal dominant neurological disorders

Frontiers in Genome Editing
Epigenetics refers to the molecules and mechanisms that modify gene expression states without changing the nucleotide context. These modifications are what encode the cell state during differentiation or epigenetic memory in mitosis.
Jennifer J. Waldo, Julian A. N. M. Halmai, Kyle D. Fink   +2 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES [PDF]

, 2004
The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F ...
AVONI P, BAGATTIN A, BARUZZI A, BISULLI F, D'ORSI G, FLORINDO I, MICHELUCCI R., NOBILE C, SCUDELLARO E, STRIANO P, STRIANO, SALVATORE, TASSINARI CA, TINUPER P, VIGNATELLI L   +13 more
core  

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Autosomal dominant polycystic kidney disease in children

Saudi Journal of Kidney Diseases and Transplantation, 2016
Autosomal dominant polycystic kidney disease (ADPKD) presenting in adults is well documented, but the presentation in children is uncommon and is unclear why the disease presents early.
Kiran Chandra Patro, R Dilip, S Ramakrishnan   +2 more
doaj