Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: CC2D2A[original query] |
---|
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
Positive association of CC2D1A and CC2D2A gene haplotypes with mental retardation in a Han Chinese population. DNA and cell biology 2012 Jan 31 (1): 80-7. Shi Zhang-Yan, Li Ya-Jing, Zhang Ke-Jin, Gao Xiao-Cai, Zheng Zi-Jian, Han Ning, Zhang Fu-Cha |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of medical genetics 2012 Feb 49 (2): 126-37. Bachmann-Gagescu Ruxandra, Ishak Gisele E, Dempsey Jennifer C, Adkins Jonathan, O'Day Diana, Phelps Ian G, Gunay-Aygun Meral, Kline Antonie D, Szczaluba Krzysztof, Martorell Loreto, Alswaid Abdulrahman, Alrasheed Shatha, Pai Shashidhar, Izatt Louise, Ronan Anne, Parisi Melissa A, Mefford Heather, Glass Ian, Doherty D |
Joubert syndrome: genotyping a Northern European patient cohort. European journal of human genetics : EJHG 2015 Apr . Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi |
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. Journal of medical genetics 2016 Feb . Al-Hamed Mohamed H, Kurdi Wesam, Alsahan Nada, Alabdullah Zainab, Abudraz Rania, Tulbah Maha, Alnemer Maha, Khan Rubina, Al-Jurayb Haya, Alahmed Ahmed, Tahir Asma I, Khalil Dania, Edwards Noel, Al Abdulaziz Basma, Binhumaid Faisal S, Majid Salma, Faquih Tariq, El-Kalioby Mohamed, Abouelhoda Mohamed, Altassan Nada, Monies Dorota, Meyer Brian, Sayer John A, Albaqumi Mamdo |
Genome-Wide Gene-Potassium Interaction Analyses on Blood Pressure: The GenSalt Study (Genetic Epidemiology Network of Salt Sensitivity).
Circulation. Cardiovascular genetics 2017 Dec 10 (6): . Li Changwei, He Jiang, Chen Jing, Zhao Jinying, Gu Dongfeng, Hixson James E, Rao Dabeeru C, Jaquish Cashell E, Rice Treva K, Sung Yun Ju, Kelly Tanika |
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing. NPJ genomic medicine 2022 May 7 (1): 31. Yang Ying, Zhao Sheng, Sun Guoqiang, Chen Fang, Zhang Tongda, Song Jieping, Yang Wenzhong, Wang Lin, Zhan Nianji, Yang Xiaohong, Zhu Xia, Rao Bin, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Ye Jingyu, Huang Hui, Cheng Chen, Zhu Shida, Guo Jian, Xu Xun, Chen Xinl |
New insights into CC2D2A-related Joubert syndrome. Journal of medical genetics 2022 11 . Harion Madeleine, Qebibo Leila, Riquet Audrey, Rougeot Christelle, Afenjar Alexandra, Garel Catherine, Louha Malek, Lacaze Emmanuelle, Audic-Gérard Frédérique, Barth Magali, Berquin Patrick, Bonneau Dominique, Bourdain Frédéric, Busa Tiffany, Colin Estelle, Cuisset Jean-Marie, Des Portes Vincent, Dorison Nathalie, Francannet Christine, Héron Bénédicte, Laroche Cécile, Lebrun Marine, Métreau Julia, Odent Sylvie, Pasquier Laurent, Trujillo Yaumara Perdomo, Perrin Laurine, Pinson Lucile, Rivier François, Sigaudy Sabine, Thauvin-Robinet Christel, Louvier Ulrike Walther, Labayle Olivier, Rodriguez Diana, Valence Stéphanie, Burglen Lyd |
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: