Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 11 (of 11 Records) |
| Query Trace: Mucolipidosis Type 4[original query] |
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| Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Human mutation 2001 May 17 (5): 397-402. Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach |
| Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. American journal of human genetics 2002 Apr 70 (4): 1023-7. Edelmann Lisa, Dong Jianli, Desnick Robert J, Kornreich Ru |
| Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. Human genetics 2004 1 114 (4): 366-76. Frisch Amos, Colombo Roberto, Michaelovsky Elena, Karpati Mazal, Goldman Boleslaw, Peleg Le |
| The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. Human mutation 2005 Dec 26 (6): 591. Bach Gideon, Webb Michael B T, Bargal Ruth, Zeigler Marcia, Ekstein Jose |
| Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? Prenatal diagnosis 2008 Mar 28 (3): 236-41. Fares Fuad, Badarneh Khader, Abosaleh Mohamed, Harari-Shaham Amalia, Diukman Roni, David Miri |
| The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013 Apr 80 (17): 1606-10. Gan-Or Ziv, Ozelius Laurie J, Bar-Shira Anat, Saunders-Pullman Rachel, Mirelman Anat, Kornreich Ruth, Gana-Weisz Mali, Raymond Deborah, Rozenkrantz Liron, Deik Andres, Gurevich Tanya, Gross Susan J, Schreiber-Agus Nicole, Giladi Nir, Bressman Susan B, Orr-Urtreger A |
| A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. Journal of human genetics 2015 Sep . Zhang Huiwen, Yang Rui, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuef |
| [A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II ?/?]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 5 36 (6): 606-609. Yang Ke, Lou Guiyu, Qi Na, Zhang Yuwei, Zhu Hongjie, Wang Li, Wang Xijuan, Zhang Bi |
| Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly. Molecular genetics & genomic medicine 2019 10 8 (1): e992. Meloche Jolyane, Brunet Vanessa, Gagnon Pierre-Alexandre, Lavoie Marie-Ève, Bouchard Jean-Benoît, Nadaf Javad, Majewski Jacek, Morin Charles, Laprise Catheri |
| Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of human genetics 2020 7 65 (11): 971-984. Pasumarthi Divya, Gupta Neerja, Sheth Jayesh, Jain S Jamal Md Nurul, Rungsung Ikrormi, Kabra Madhulika, Ranganath Prajnya, Aggarwal Shagun, Phadke Shubha R, Girisha Katta M, Shukla Anju, Datar Chaitanya, Verma Ishwar C, Puri Ratna Dua, Bhavsar Riddhi, Mistry Mehul, Sankar V H, Gowrishankar Kalpana, Agrawal Divya, Nair Mohandas, Danda Sumita, Soni Jai Prakash, Dalal Ashw |
| Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping. European journal of medical genetics 2020 4 63 (7): 103927. Pode-Shakked Ben, Finezilber Yael, Levi Yonit, Liber Shiri, Fleischer Nicole, Greenbaum Lior, Raas-Rothschild Anni |
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