Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 24 (of 24 Records) |
| Query Trace: Situs Inversus[original query] |
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| Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Human mutation 2007 May 28 (5): 523-4. Khaddour Rana, Smith Ursula, Baala Lekbir, Martinovic Jéléna, Clavering Davina, Shaffiq Rizwana, Ozilou Catherine, Cullinane Andrew, Kyttälä Mira, Shalev Stavit, Audollent Sophie, d'Humières Camille, Kadhom Noman, Esculpavit Chantal, Viot Géraldine, Boone Claire, Oien Christine, Encha-Razavi Férechté, Batman Philip A, Bennett Christopher P, Woods C Geoffrey, Roume Joelle, Lyonnet Stanislas, Génin Emmanuelle, Le Merrer Martine, Munnich Arnold, Gubler Marie-Claire, Cox Phillip, Macdonald Fiona, Vekemans Michel, Johnson Colin A, Attié-Bitach Tania, |
| [Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary]. Orvosi hetilap 2011 Feb 152 (6): 221-32. Halász Zi |
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
PLoS genetics 2013 9 (9): e1003751. Brandler William M, Morris Andrew P, Evans David M, Scerri Thomas S, Kemp John P, Timpson Nicholas J, St Pourcain Beate, Smith George Davey, Ring Susan M, Stein John, Monaco Anthony P, Talcott Joel B, Fisher Simon E, Webber Caleb, Paracchini Silv |
| Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda, Md.) 2015 5 (8): 1775-81. Marshall Christian R, Scherer Stephen W, Zariwala Maimoona A, Lau Lynette, Paton Tara A, Stockley Tracy, Jobling Rebekah K, Ray Peter N, Knowles Michael R, , Hall David A, Dell Sharon D, Kim Raymond |
| 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 |
| Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. American journal of respiratory cell and molecular biology 2015 Mar . Frommer Adrien, Hjeij Rim, Loges Niki T, Edelbusch Christine, Jahnke Charlotte, Raidt Johanna, Werner Claudius, Wallmeier Julia, Große-Onnebrink Jörg, Olbrich Heike, Cindri? Sandra, Jaspers Martine, Boon Mieke, Memari Yasin, Durbin Richard, Kolb-Kokocinski Anja, Sauer Sascha, Marthin June K, Nielsen Kim G, Amirav Israel, Elias Nael, Eitan Kerem, Shoseyov David, Haeffner Karsten, Omran Heym |
| High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax 2017 8 73 (2): 157-166. Shoemark Amelia, Moya Eduardo, Hirst Robert A, Patel Mitali P, Robson Evelyn A, Hayward Jane, Scully Juliet, Fassad Mahmoud R, Lamb William, Schmidts Miriam, Dixon Mellisa, Patel-King Ramila S, Rogers Andrew V, Rutman Andrew, Jackson Claire L, Goggin Patricia, Rubbo Bruna, Ollosson Sarah, Carr Siobhán, Walker Woolf, Adler Beryl, Loebinger Michael R, Wilson Robert, Bush Andrew, Williams Hywel, Boustred Christopher, Jenkins Lucy, Sheridan Eamonn, Chung Eddie M K, Watson Christopher M, Cullup Thomas, Lucas Jane S, Kenia Priti, O'Callaghan Christopher, King Stephen M, Hogg Claire, Mitchison Hannah |
| Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax 2018 9 74 (2): 203-205. Best Sunayna, Shoemark Amelia, Rubbo Bruna, Patel Mitali P, Fassad Mahmoud R, Dixon Mellisa, Rogers Andrew V, Hirst Robert A, Rutman Andrew, Ollosson Sarah, Jackson Claire L, Goggin Patricia, Thomas Simon, Pengelly Reuben, Cullup Thomas, Pissaridou Eleni, Hayward Jane, Onoufriadis Alexandros, O'Callaghan Christopher, Loebinger Michael R, Wilson Robert, Chung Eddie Mk, Kenia Priti, Doughty Victoria L, Carvalho Julene S, Lucas Jane S, Mitchison Hannah M, Hogg Clai |
| 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 |
| Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus. Experimental and therapeutic medicine 2020 8 20 (4): 3336-3342. Chen Xiangyu, Deng Sheng, Xia Hong, Yuan Lamei, Xu Hongbo, Tang Shiyu, Deng H |
| Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity. International archives of allergy and immunology 2020 7 181 (9): 727-731. Piatti Gioia, Ambrosetti Umberto, Robino Antonietta, Girotto Giorgia, Gasparini Pao |
| The genetics of situs inversus without primary ciliary dyskinesia. Scientific reports 2020 3 10 (1): 3677. Postema Merel C, Carrion-Castillo Amaia, Fisher Simon E, Vingerhoets Guy, Francks Cly |
| Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience. International journal of pediatrics & adolescent medicine 2021 8 8 (4): 258-263. Alzaid Mohammed, Al-Mobaireek Khalid, Almannai Mohammed, Mukhtar Gawahir, Eltahir Safa, Zafar Adnan, Zada Abdulali P, Alotaibi Wad |
| The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient. Journal of assisted reproduction and genetics 2021 1 38 (3): 689-696. Li Yaqian, Jiang Chuan, Zhang Xueguang, Liu Mohan, Sun Yongkang, Yang Yihong, Shen Yi |
| 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 |
| Comprehensive Molecular Profiling of Colorectal Cancer With Situs Inversus Totalis by Next-Generation Sequencing. Frontiers in oncology 2022 12 813253. Li Hongsen, Gong Liu, Cheng Huanqing, Wang Huina, Zhang Xiaochen, Rao Chuangzhou, Song Zhangfa, Wang Da, Lou Haizhou, Lou Feng, Cao Shanbo, Pan Hongming, Fang Yo |
| 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 |
| Clinical phenotypes of primary ciliary dyskinesia. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022 5 47 (1): 116-122. Lei Cheng, Wang Rongchun, Yang Danhui, Guo Ting, Luo Ho |
| 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 |
| Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient. Clinical genetics 2022 12 . Zhu Tian, Li Hui, Wei Xing, Li Wuyi, Sun Zixi, Sui Ruifa |
| 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, |
| Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population. Frontiers in genetics 2024 7 15 1396797. Dalal A Al-Mutairi, Basel H Alsabah, Petra Pennekamp, Heymut Omr |
| Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene. Archives of gynecology and obstetrics 2024 6 . Simin Zhang, Jingjing Wang, Lijuan Sun, Jijing Han, Xiaowei Xiong, Dan Xiao, Qingqing |
| Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study. Lung 2024 4 . Noelia Rodriguez Mier, Martine Jaspers, Evelien Van Hoof, Mark Jorissen, Natalie Lorent, Marijke Proesmans, François Vermeulen, Jeroen Breckpot, Mieke Bo |
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