Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 28 (of 28 Records) |
Query Trace: Heterotaxy[original query] |
---|
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. American journal of human genetics 2002 1 70 (3): 776-80. Goldmuntz Elizabeth, Bamford Richard, Karkera Jayaprakash D, dela Cruz June, Roessler Erich, Muenke Maximili |
Association of the C677T methylenetetrahydrofolate reductase mutation with congenital heart diseases. Acta obstetricia et gynecologica Scandinavica 2005 Dec 84 (12): 1134-40. Lee Chien-Nan, Su Yi-Ning, Cheng Wen-Fang, Lin Ming-Tai, Wang Jou-Kou, Wu Mei-Hwan, Hsieh Fon-J |
Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease. Pediatric cardiology 0 27 (6): 695-8. Ozcelik Cemil, Bit-Avragim Nana, Panek Anna, Gaio Ursula, Geier Christian, Lange Peter E, Dietz Rainer, Posch Maximilian G, Perrot Andreas, Stiller Brigit |
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Human molecular genetics 2009 Mar 18 (5): 861-71. Mohapatra Bhagyalaxmi, Casey Brett, Li Hua, Ho-Dawson Trang, Smith Liana, Fernbach Susan D, Molinari Laura, Niesh Stephen R, Jefferies John Lynn, Craigen William J, Towbin Jeffrey A, Belmont John W, Ware Stephanie |
NPHP4 variants are associated with pleiotropic heart malformations. Circulation research 2012 Jun 110 (12): 1564-74. French Vanessa M, van de Laar Ingrid M B H, Wessels Marja W, Rohe Christan, Roos-Hesselink Jolien W, Wang Guangliang, Frohn-Mulder Ingrid M E, Severijnen Lies-Anne, de Graaf Bianca M, Schot Rachel, Breedveld Guido, Mientjes Edwin, van Tienhoven Marianne, Jadot Elodie, Jiang Zhengxin, Verkerk Annemieke, Swagemakers Sigrid, Venselaar Hanka, Rahimi Zohreh, Najmabadi Hossein, Meijers-Heijboer Hanne, de Graaff Esther, Helbing Wim A, Willemsen Rob, Devriendt Koen, Belmont John W, Oostra Ben A, Amack Jeffrey D, Bertoli-Avella Aida |
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. American journal of medical genetics. Part A 2013 Apr 161A (4): 792-802. D'Alessandro Lisa C A, Latney Brande C, Paluru Prasuna C, Goldmuntz Elizabe |
Genetic and functional analyses of ZIC3 variants in congenital heart disease. Human mutation 2014 Jan 35 (1): 66-75. Cowan Jason, Tariq Muhammad, Ware Stephanie |
Novel copy-number variants in a population-based investigation of classic heterotaxy. Genetics in medicine : official journal of the American College of Medical Genetics 2015 May 17 (5): 348-57. Rigler Shannon L, Kay Denise M, Sicko Robert J, Fan Ruzong, Liu Aiyi, Caggana Michele, Browne Marilyn L, Druschel Charlotte M, Romitti Paul A, Brody Lawrence C, Mills James |
Duplication and deletion of CFC1 associated with heterotaxy syndrome. DNA and cell biology 2015 Feb 34 (2): 101-6. Cao Ruixue, Long Fei, Wang Liping, Xu Yuejuan, Guo Ying, Li Fen, Chen Sun, Sun Kun, Xu Ra |
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Molecular genetics & genomic medicine 2015 Mar 3 (2): 137-42. Fedick Anastasia M, Jalas Chaim, Treff Nathan R, Knowles Michael R, Zariwala Maimoona |
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. Human genetics 2016 Sep . Hagen Erin M, Sicko Robert J, Kay Denise M, Rigler Shannon L, Dimopoulos Aggeliki, Ahmad Shabbir, Doleman Margaret H, Fan Ruzong, Romitti Paul A, Browne Marilyn L, Caggana Michele, Brody Lawrence C, Shaw Gary M, Jelliffe-Pawlowski Laura L, Mills James |
The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5. Scientific reports 2016 6 33231. Lessel Davor, Muhammad Tariq, Casar Tena Teresa, Moepps Barbara, Burkhalter Martin D, Hitz Marc-Phillip, Toka Okan, Rentzsch Axel, Schubert Stephan, Schalinski Adelheid, Bauer Ulrike M M, Kubisch Christian, Ware Stephanie M, Philipp Melan |
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Human mutation 2018 8 39 (12): 1875-1884. Granadillo Jorge L, Chung Wendy K, Hecht Leah, Corsten-Janssen Nicole, Wegner Daniel, Nij Bijvank Sebastiaan W A, Toler Tomi L, Pineda-Alvarez Daniel E, Douglas Ganka, Murphy Joshua J, Shimony Joshua, Shinawi Marw |
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries. PloS one 2018 2 13 (2): e0191605. Zahid Maliha, Bais Abha, Tian Xin, Devine William, Lee Dong Ming, Yau Cyrus, Sonnenberg Daniel, Beerman Lee, Khalifa Omar, Lo Cecilia |
Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome. Frontiers in genetics 2019 10 749. Yue Yongjian, Huang Qijun, Zhu Peng, Zhao Pan, Tan Xinjuan, Liu Shengguo, Li Shulin, Han Xuemei, Cheng Linling, Li Bo, Fu Yingy |
DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome. Scientific reports 2019 5 9 (1): 6683. Liu Sida, Chen Weicheng, Zhan Yongkun, Li Shuolin, Ma Xiaojing, Ma Duan, Sheng Wei, Huang Guoyi |
Genetic architecture of laterality defects revealed by whole exome sequencing. European journal of human genetics : EJHG 2019 1 27 (4): 563-573. Li Alexander H, Hanchard Neil A, Azamian Mahshid, D'Alessandro Lisa C A, Coban-Akdemir Zeynep, Lopez Keila N, Hall Nancy J, Dickerson Heather, Nicosia Annarita, Fernbach Susan, Boone Philip M, Gambin Tomaz, Karaca Ender, Gu Shen, Yuan Bo, Jhangiani Shalini N, Doddapaneni HarshaVardhan, Hu Jianhong, Dinh Huyen, Jayaseelan Joy, Muzny Donna, Lalani Seema, Towbin Jeffrey, Penny Daniel, Fraser Charles, Martin James, Lupski James R, Gibbs Richard A, Boerwinkle Eric, Ware Stephanie M, Belmont John |
Phenotypic features of ciliary dyskinesia among patients with congenital cardiovascular malformations. Pediatric pulmonology 2020 7 55 (10): 2674-2682. Sherman Forrest, Wodrich Mitchel, Zampi Jeffrey D, Lee Julie, McCaffery Harlan, Saba Thomas |
Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus. Medical molecular morphology 2021 5 54 (3): 275-280. Tate Gens |
Increases in oxygen saturation following discharge from Fontan palliation - an indicator of resolution of pulmonary arteriovenous malformations? Cardiology in the young 2021 3 31 (11): 1807-1813. Van Galder Hannah, Schaal Amy M, Feng Mingen, Pan Amy Y, Frommelt Michele A, Ginde Salil, Spearman Andrew |
De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children. Human genomics 2022 9 16 (1): 41. Qin Xi-Ji, Xu Meng-Meng, Ye Jia-Jun, Niu Yi-Wei, Wu Yu-Rong, Xu Rang, Li Fen, Fu Qi-Hua, Chen Sun, Sun Kun, Xu Yue-Ju |
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient. Journal of human genetics 2022 6 67 (10): 573-577. Gu Heng, Yuan Zhuang-Zhuang, Xie Xiao-Hui, Yang Yi-Feng, Tan Zhi-Pi |
Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort. Frontiers in genetics 2022 5 13 818241. Yi Tong, Sun Hairui, Fu Yuwei, Hao Xiaoyan, Sun Lin, Zhang Ye, Han Jiancheng, Gu Xiaoyan, Liu Xiaowei, Guo Yong, Wang Xin, Zhou Xiaoxue, Zhang Siyao, Yang Qi, Fan Jiaqi, He Yih |
A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect. Prenatal diagnosis 2022 12 43 (3): 275-279. Wang Yu, Dai Xiaohui, Liu Hanmin, Peng Jin, Chen Ji |
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype. Annals of the American Thoracic Society 2022 11 . Barber Andrew T, Shapiro Adam J, Davis Stephanie D, Ferkol Thomas W, Atkinson Jeffrey J, Sagel Scott D, Dell Sharon D, Olivier Kenneth N, Milla Carlos E, Rosenfeld Margaret, Li Lang, Lin Feng-Chang, Sullivan Kelli M, Capps Nicole A, Zariwala Maimoona A, Knowles Michael R, Leigh Margaret W, |
X-linked BCOR variants identified in Chinese Han patients with congenital heart disease. The journal of gene medicine 2022 10 25 (1): e3461. Suo Mei-Jiao, Chen Wei-Cheng, Xu Zi-Qing, Tian Gui-Xiang, Li Ting, Li Ping, Sheng Wei, Huang Guo-Ying, Ma Xiao-Ji |
A gene-based association test of interactions for maternal-fetal genotypes identifies genes associated with nonsyndromic congenital heart defects. Genetic epidemiology 2023 6 . Manyan Huang, Chen Lyu, Nianjun Liu, Wendy N Nembhard, John S Witte, Charlotte A Hobbs, Ming Li, |
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 2024 4 16 (1): 53. Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R Lupski, Zeynep Coban-Akdemir, Shaine A Morr |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: