Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Syndrome and TBX4[original query] |
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TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. Journal of medical genetics 2013 Aug 50 (8): 500-6. Kerstjens-Frederikse Wilhelmina S, Bongers Ernie M H F, Roofthooft Marcus T R, Leter Edward M, Douwes J Menno, Van Dijk Arie, Vonk-Noordegraaf Anton, Dijk-Bos Krista K, Hoefsloot Lies H, Hoendermis Elke S, Gille Johan J P, Sikkema-Raddatz Birgit, Hofstra Robert M W, Berger Rolf M |
Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates. Respiratory research 2019 Aug 20 (1): 174. Liu Xu, Mei Mei, Chen Xiang, Lu Yulan, Dong Xinran, Hu Liyuan, Hu Xiaojing, Cheng Guoqiang, Cao Yun, Yang Lin, Zhou Wenh |
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. The Journal of pediatrics 2020 Jun . Haarman Meindina G, Kerstjens-Frederikse Wilhelmina S, Vissia-Kazemier Theresia R, Breeman Karel T N, Timens Wim, Vos Yvonne J, Roofthooft Marc T R, Hillege Hans L, Berger Rolf M |
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. American journal of respiratory and critical care medicine 2022 7 206 (12): 1522-1533. Prapa Matina, Lago-Docampo Mauro, Swietlik Emilia M, Montani David, Eyries Mélanie, Humbert Marc, Welch Carrie L, Chung Wendy K, Berger Rolf M F, Bogaard Harm Jan, Danhaive Olivier, Escribano-Subías Pilar, Gall Henning, Girerd Barbara, Hernandez-Gonzalez Ignacio, Holden Simon, Hunt David, Jansen Samara M A, Kerstjens-Frederikse Wilhelmina, Kiely David G, Lapunzina Pablo, McDermott John, Moledina Shahin, Pepke-Zaba Joanna, Polwarth Gary J, Schotte Gwen, Tenorio-Castaño Jair, Thompson A A Roger, Wharton John, Wort Stephen J, Megy Karyn, Mapeta Rutendo, Treacy Carmen M, Martin Jennifer M, Li Wei, Swift Andrew J, Upton Paul D, Morrell Nicholas W, Gräf Stefan, Valverde Diana, , , |
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