Human Genome Epidemiology Literature Finder
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Records 1 - 18 (of 18 Records) |
| Query Trace: Disease 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 |
| Genetic analyses in a cohort of children with pulmonary hypertension. The European respiratory journal 2016 Sep . Levy Marilyne, Eyries Mélanie, Szezepanski Isabelle, Ladouceur Magalie, Nadaud Sophie, Bonnet Damien, Soubrier Flore |
| Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension. Revista espanola de cardiologia (English ed.) 2016 Jul . Navas Paula, Tenorio Jair, Quezada Carlos Andrés, Barrios Elvira, Gordo Gema, Arias Pedro, López Meseguer Manuel, Santos-Lozano Alejandro, Palomino Doza Julian, Lapunzina Pablo, Escribano Subías Pil |
| Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon. BMC medical genetics 2018 5 19 (1): 89. Abou Hassan Ossama K, Haidar Wiam, Nemer Georges, Skouri Hadi, Haddad Fadi, BouAkl Im |
| Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circulation. Genomic and precision medicine 2018 Apr 11 (4): e001887. Zhu Na, Gonzaga-Jauregui Claudia, Welch Carrie L, Ma Lijiang, Qi Hongjian, King Alejandra K, Krishnan Usha, Rosenzweig Erika B, Ivy D Dunbar, Austin Eric D, Hamid Rizwan, Nichols William C, Pauciulo Michael W, Lutz Katie A, Sawle Ashley, Reid Jeffrey G, Overton John D, Baras Aris, Dewey Frederick, Shen Yufeng, Chung Wendy |
| Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases. The European respiratory journal 2018 12 53 (3): . Eyries Mélanie, Montani David, Nadaud Sophie, Girerd Barbara, Levy Marilyne, Bourdin Arnaud, Trésorier Romain, Chaouat Ari, Cottin Vincent, Sanfiorenzo Céline, Prevot Grégoire, Reynaud-Gaubert Martine, Dromer Claire, Houeijeh Ali, Nguyen Karine, Coulet Florence, Bonnet Damien, Humbert Marc, Soubrier Flore |
| Neonatal Lung Disease Associated with TBX4 Mutations. The Journal of pediatrics 2018 Nov . Suhrie Kristen, Pajor Nathan M, Ahlfeld Shawn K, Dawson D Brian, Dufendach Kevin R, Kitzmiller Joseph A, Leino Daniel, Lombardo Rachel C, Smolarek Teresa A, Rathbun Pamela A, Whitsett Jeffrey A, Towe Christopher, Wikenheiser-Brokamp Kathryn |
| Genome-wide association study identifies loci and candidate genes for non-idiopathic pulmonary hypertension in Eastern Chinese Han population. BMC pulmonary medicine 2018 Oct 18 (1): 158. Yin Caiyong, Li Kai, Yu Yanfang, Huang Huijie, Yu Youjia, Wang Zhongqun, Yan Jinchuan, Pu Yan, Li Zheng, Li Ding, Chen Peng, Chen Fe |
| 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 |
| Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome medicine 2019 Nov 11 (1): 69. Zhu Na, Pauciulo Michael W, Welch Carrie L, Lutz Katie A, Coleman Anna W, Gonzaga-Jauregui Claudia, Wang Jiayao, Grimes Joseph M, Martin Lisa J, He Hua, , Shen Yufeng, Chung Wendy K, Nichols William |
| 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 |
| Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. Pediatric pulmonology 2020 1 56 (3): 614-620. Welch Carrie L, Austin Eric D, Chung Wendy |
| Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome medicine 2021 May 13 (1): 80. Zhu Na, Swietlik Emilia M, Welch Carrie L, Pauciulo Michael W, Hagen Jacob J, Zhou Xueya, Guo Yicheng, Karten Johannes, Pandya Divya, Tilly Tobias, Lutz Katie A, Martin Jennifer M, Treacy Carmen M, Rosenzweig Erika B, Krishnan Usha, Coleman Anna W, Gonzaga-Jauregui Claudia, Lawrie Allan, Trembath Richard C, Wilkins Martin R, , , , , Morrell Nicholas W, Shen Yufeng, Gräf Stefan, Nichols William C, Chung Wendy |
| Expression Quantitative Trait Locus Analysis in Systemic Sclerosis Identifies New Candidate Genes Associated With Multiple Aspects of Disease Pathology. Arthritis & rheumatology (Hoboken, N.J.) 2021 1 73 (7): 1288-1300. Kerick Martin, González-Serna David, Carnero-Montoro Elena, Teruel Maria, Acosta-Herrera Marialbert, Makowska Zuzanna, Buttgereit Anne, Babaei Sepideh, Barturen Guillermo, López-Isac Elena, , Lesche Ralf, Beretta Lorenzo, Alarcon-Riquelme Marta E, Martin Javi |
| Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry. International journal of molecular sciences 2022 Sep 23 (18): . Cruz-Utrilla Alejandro, Gallego-Zazo Natalia, Tenorio-Castaño Jair Antonio, Guillén Inmaculada, Torrent-Vernetta Alba, Moya-Bonora Amparo, Labrandero Carlos, Rodríguez-Monte María Elvira Garrido-Lestache, Rodríguez-Ogando Alejandro, Rey María Del Mar Rodríguez Vázquez Del, Espín Juana, Plata-Izquierdo Beatriz, Álvarez-Fuente María, Moreno-Galdó Antonio, Escribano-Subias Pilar, Marín María Jesús Del Cer |
| 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, , , |
| Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip. Molecular genetics and genomics : MGG 2022 12 298 (2): 329-342. Dembic Maja, van Brakel Andersen Lars, Larsen Martin Jakob, Mechlenburg Inger, Søballe Kjeld, Hertz Jens Micha |
| What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study. Genes 2022 11 13 (11): . Bianco Anna Monica, Ragusa Giulia, Di Carlo Valentina, Faletra Flavio, Di Stazio Mariateresa, Racano Costantina, Trisolino Giovanni, Cappellani Stefania, De Pellegrin Maurizio, d'Addetta Ignazio, Carluccio Giuseppe, Monforte Sergio, Andreacchio Antonio, Dibello Daniela, d'Adamo Adamo |
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