Shreya Sangam, Xutong Sun, Tae-Hwi Schwantes-An, Manivannan Yegambaram, Qing Lu, Yinan Shi, Todd Cook, Amanda Fisher, Andrea L. Frump, Anna Coleman, Yanan Sun, Shuxin Liang, Howard Crawford, Katie A. Lutz, Avinash D. Maun, Michael W. Pauciulo, Jason H. Karnes, Ketul R. Chaudhary, Duncan J. Stewart, Paul R. Langlais, Mohit Jain, Mona Alotaibi, Tim Lahm, Yan […]
Young Bae Sohn, Su Jin Kim, Sung Won Park, Hyung-Doo Park, Chang-Seok Ki, Chi Hwa Kim, Seung Won Huh, Sunghee Yeau, Kyung-Hoon Paik, Dong-Kyu JinSamsung Medical Center. Republic of Korea American Journal of Medical GeneticsAm J Med Genet 2010; 152A: 3129-3132DOI: 10.1002/ajmg.a.33589 AbstractMucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency
Maria C. Escobar-Diaz, Kevin Friedman, Yishay Salem, Gerald R. Marx, Brian T. Kalish, Terra Lafranchi, Rahul H. Rathod, Sitaram Emani, Tal Geva, Wayne TworetzkyBoston Children’s Hospital and Harvard Medical School. Tel Aviv University. United States and Israel American Journal of CardiologyAm J Cardiol 2014; 114: 612-617DOI: 10.1016/j.amjcard.2014.05.042 AbstractPatients with heterotaxy syndrome (HS) have a range of
Srinath Gowda, Deepti Bhat, Zhuang Feng, Chung-Ho Chang, Robert D. RossThe Children’s Hospital of Michigan and Detroit Medical Center.United States Congenital Heart DiseaseCongenit Heart Dis 2014; 9: E90-E97DOI: 10.1111/chd.12088 AbstractDown syndrome (DS) patients are prone to pulmonary hypertension (PHTN) due to various cardiopulmonary causes. However, the association of DS with pulmonary vein stenosis (PVS) is not
Majid Al Teneiji, Marie-Anne Brundler, Mary Noseworthy, Kyle C. KurekAlberta Children’s Hospital and University of Calgary. Canada Pediatric PulmonologyPediatr Pulmonol 2021; 56: 2374-2376DOI: 10.1002/ppul.25401 AbstractNo Abstract Available CategoryPulmonary Lymphatic DiseaseGenetic Factors Associated with Pulmonary Vascular DiseasePulmonary Vascular Pathology Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
C. C. Pieper, J. Wagenpfeil, A. Henkel, S. Geiger, T. Köster, K. Hoss, J. A. Luetkens, C. Hart, U. I. Attenberger, A. MüllerUniversity of Bonn and Children’s Hospital.Germany Scientific ReportsSci Rep 2022; 12: DOI: 10.1038/s41598-022-13806-w AbstractNoonan syndrome is associated with complex lymphatic abnormalities. We report dynamic-contrast enhanced MR lymphangiography (DCMRL) findings in children and adults with
Gioia Mastromoro, Daniele Guadagnolo, Antonella Giancotti, Maria Grazia Di Gregorio, Enrica Marchionni, Flaminia Vena, Francesca Romana Lepri, Lavinia Bargiacchi, Flavia Ventriglia, Cira Di Gioia, Antonio Novelli, Antonio PizzutiSapienza University of Rome. Ospedale San Pietro Fatebenefratelli. Bambino Gesù Children’s Hospital. University of Rome.Italy European Journal of Medical Genetics Eur J Med Genet 2021; 64: DOI: 10.1016/j.ejmg.2020.104106 AbstractGeneralized
Alessia Gallipoli, Gillian MacLean, Jagdeep S. Walia, Anupam SehgalQueen’s University.Canada PediatricsPediatrics 2021; 147: DOI: 10.1542/peds.2020-011601 AbstractMutations in the RASA1 gene are known to cause arteriovenous malformations (AVMs), with evidence of associated lymphatic malformations. We report for the first time, to the best of our knowledge, an infant with RASA1 mutation presenting with hydrops fetalis and chylothorax, but without an associated
Ignacio Hernandez-Gonzalez, Jair Tenorio, Julian Palomino-Doza, Amaya Martinez Meñaca, Rafael Morales Ruiz, Mauro Lago-Docampo, Marı´a Valverde Gomez, Javier Gomez Roman, Ana Bele´n Enguita Valls, Carmen Perez-Olivares, Diana Valverde, Joan Gil Carbonell, Elvira Garrido-Lestache Rodrı´guez-Monte, Maria Jesus del Cerro, Pablo Lapunzina, Pilar Escribano-SubiasHospital Universitario Río Hortega. Hospital Universitario La Paz. Centro de Investigación Biomédica en Red
Jair Antonio Tenorio Castaño, Ignacio Hernández-Gonzalez, Natalia Gallego, Carmen Pérez-Olivares, Nuria Ochoa Parra, Pedro Arias, Elena Granda, Gonzalo Gómez Acebo, Mauro Lago-Docampo, Julian Palomino-Doza, Manuel López Meseguer, María Jesús del Cerro, Spanish PAH Consortium, Diana Valverde, Pablo Lapunzina, Pilar Escribano-SubíasHospital Universitario La Paz-UAM Paseo de La Castellana. Centro de Investigación Biomédica en Red de Enfermedades
