Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 20 (of 20 Records) |
Query Trace: Congenital Diaphragmatic Hernia[original query] |
---|
Genetic polymorphisms of angiotensin system genes in congenital diaphragmatic hernia associated with persistent pulmonary hypertension. Journal of pediatric surgery 2004 Mar 39 (3): 302-6; discussion 302-6. Solari Valeria, Puri Pr |
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Human genetics 2010 Mar 127 (3): 325-36. LopezJimenez Nelson, Gerber Simon, Popovici Vlad, Mirza Sonia, Copren Kirsten, Ta Linda, Shaw Gary M, Trueb Beat, Slavotinek Anne |
Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array. Pediatric surgery international 2011 Feb 27 (2): 193-8. Teshiba Risa, Masumoto Kouji, Esumi Genshiro, Nagata Kouji, Kinoshita Yoshiaki, Tajiri Tatsuro, Taguchi Tomoaki, Yamamoto K |
De novo copy number variants are associated with congenital diaphragmatic hernia. Journal of medical genetics 2012 Oct 49 (10): 650-9. Yu Lan, Wynn Julia, Ma Lijiang, Guha Saurav, Mychaliska George B, Crombleholme Timothy M, Azarow Kenneth S, Lim Foong Yen, Chung Dai H, Potoka Douglas, Warner Brad W, Bucher Brian, LeDuc Charles A, Costa Katherine, Stolar Charles, Aspelund Gudrun, Arkovitz Marc S, Chung Wendy |
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia. Human molecular genetics 2015 Aug 24 (16): 4764-73. Yu Lan, Sawle Ashley D, Wynn Julia, Aspelund Gudrun, Stolar Charles J, Arkovitz Marc S, Potoka Douglas, Azarow Kenneth S, Mychaliska George B, Shen Yufeng, Chung Wendy |
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. American journal of medical genetics. Part A 2015 Oct 167 (10): 2319-26. Stark Zornitza, Behrsin Joanna, Burgess Trent, Ritchie Anna, Yeung Alison, Tan Tiong Y, Brown Natasha J, Savarirayan Ravi, Patel Ne |
Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia. Journal of pediatric surgery 2017 Jan . Chiu Joanne S, Ma Lijiang, Wynn Julia, Krishnan Usha, Rosenzweig Erika B, Aspelund Gudrun, Arkovitz Marc, Warner Brad W, Lim Foong-Yen, Mychaliska George B, Azarow Kenneth, Cusick Robert A, Chung Dai H, Chung Wendy |
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing. Prenatal diagnosis 2018 Jul . Kammoun Molka, Souche Erika, Brady Paul, Ding Jia, Cosemans Nele, Gratacos Eduard, Devriendt Koen, Eixarch Elisenda, Deprest Jan, Vermeesch Joris Robe |
Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proceedings of the National Academy of Sciences of the United States of America 2018 05 115 (20): 5247-5252. Zhu Qihui, High Frances A, Zhang Chengsheng, Cerveira Eliza, Russell Meaghan K, Longoni Mauro, Joy Maliackal P, Ryan Mallory, Mil-Homens Adam, Bellfy Lauren, Coletti Caroline M, Bhayani Pooja, Hila Regis, Wilson Jay M, Donahoe Patricia K, Lee Charl |
Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia. Birth defects research 2018 3 110 (7): 610-617. Matsunami Nori, Shanmugam Hari, Baird Lisa, Stevens Jeff, Byrne Janice L, Barnhart Douglas C, Rau Carrie, Feldkamp Marcia L, Yoder Bradley A, Leppert Mark F, Yost H Joseph, Brunelli Lu |
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. American journal of human genetics 2018 2 102 (3): 487-493. Bashamboo Anu, Eozenou Caroline, Jorgensen Anne, Bignon-Topalovic Joelle, Siffroi Jean-Pierre, Hyon Capucine, Tar Attila, Nagy Péter, Sólyom Janos, Halász Zita, Paye-Jaouen Annnabel, Lambert Sophie, Rodriguez-Buritica David, Bertalan Rita, Martinerie Laetitia, Rajpert-De Meyts Ewa, Achermann John C, McElreavey K |
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. American journal of medical genetics. Part A 2018 2 176 (4): 969-972. Pinz Hailey, Pyle Louise C, Li Dong, Izumi Kosuke, Skraban Cara, Tarpinian Jennifer, Braddock Stephen R, Telegrafi Aida, Monaghan Kristin G, Zackai Elaine, Bhoj Elizabeth |
Gene ontology enrichment analysis of congenital diaphragmatic hernia-associated genes. Pediatric research 2018 10 85 (1): 13-19. Dalmer Timothy R A, Clugston Robin |
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. American journal of medical genetics. Part A 2019 7 179 (9): 1836-1845. Škori?-Milosavljevi? Doris, Tjong Fleur V Y, Barc Julien, Backx Ad P C M, Clur Sally-Ann B, van Spaendonck-Zwarts Karin, Oostra Roelof-Jan, Lahrouchi Najim, Beekman Leander, Bökenkamp Regina, Barge-Schaapveld Daniela Q C M, Mulder Barbara J, Lodder Elisabeth M, Bezzina Connie R, Postma Alex |
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. Molecular vision 2019 11 25 527-534. Siggs Owen M, Souzeau Emmanuelle, Breen James, Qassim Ayub, Zhou Tiger, Dubowsky Andrew, Ruddle Jonathan B, Craig Jamie |
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. American journal of human genetics 2021 Sep . Qiao Lu, Xu Le, Yu Lan, Wynn Julia, Hernan Rebecca, Zhou Xueya, Farkouh-Karoleski Christiana, Krishnan Usha S, Khlevner Julie, De Aliva, Zygmunt Annette, Crombleholme Timothy, Lim Foong-Yen, Needelman Howard, Cusick Robert A, Mychaliska George B, Warner Brad W, Wagner Amy J, Danko Melissa E, Chung Dai, Potoka Douglas, Kosi?ski Przemyslaw, McCulley David J, Elfiky Mahmoud, Azarow Kenneth, Fialkowski Elizabeth, Schindel David, Soffer Samuel Z, Lyon Jane B, Zalieckas Jill M, Vardarajan Badri N, Aspelund Gudrun, Duron Vincent P, High Frances A, Sun Xin, Donahoe Patricia K, Shen Yufeng, Chung Wendy |
Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants. American journal of surgery 2021 7 223 (1): 182-186. Schwab Marisa E, Dong Shan, Lianoglou Billie R, Aguilar Lucero Alessandra F, Schwartz Grace B, Norton Mary E, MacKenzie Tippi C, Sanders Stephan |
The frequency and efficacy of genetic testing in individuals with scimitar syndrome. Cardiology in the young 2021 7 32 (4): 550-557. Fick Tyler A, Scott Daryl A, Lupo Philip J, Weigand Justin, Morris Shaine |
The Role of Genes 2021 Sep 12 (9): . Bendixen Charlotte, Reutter Hei |
aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+). Journal of clinical medicine 2023 10 12 (19): . Yannick Schreiner, Teresa Stoll, Oliver Nowak, Meike Weis, Svetlana Hetjens, Eric Steck, Alba Perez Ortiz, Neysan Raf |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: