Year |
Citation |
Score |
2018 |
Mechakra A, Footz T, Walter M, Aránega A, Hernández-Torres F, Morel E, Millat G, Yang YQ, Chahine M, Chevalier P, Christé G. A Novel PITX2c Gain-of-Function Mutation, p.Met207Val, in Patients With Familial Atrial Fibrillation. The American Journal of Cardiology. PMID 30558760 DOI: 10.1016/J.Amjcard.2018.11.047 |
0.328 |
|
2017 |
Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB. Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Human Molecular Genetics. 26: 3630-3638. PMID 28911203 DOI: 10.1093/Hmg/Ddx251 |
0.575 |
|
2013 |
Kampa-Schittenhelm KM, Lopez CD, Illing B, Walter M, Schittenhelm MM. Abstract LB-49: Identification of C-terminal truncated splice variants of the apoptosis-stimulating protein of p53-2 (ASPP2) in acute leukemia. Cancer Research. 73. DOI: 10.1158/1538-7445.Am2013-Lb-49 |
0.332 |
|
2011 |
Rall K, Barresi G, Walter M, Poths S, Haebig K, Schaeferhoff K, Schoenfisch B, Riess O, Wallwiener D, Bonin M, Brucker S. A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients. Orphanet Journal of Rare Diseases. 6: 32. PMID 21619687 DOI: 10.1186/1750-1172-6-32 |
0.318 |
|
2009 |
Fetterman C, Mirzayans F, Walter M. Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. Clinical Genetics. 76: 296-299. PMID 19793056 DOI: 10.1111/J.1399-0004.2009.01210.X |
0.312 |
|
2008 |
Sharan S, Mirzayans F, Footz T, Walter M, Levin AV. Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes. Journal of Aapos. 12: 340-343. PMID 18440259 DOI: 10.1016/J.Jaapos.2007.11.021 |
0.365 |
|
2007 |
Lowry RB, Gould DB, Walter MA, Savage PR. Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. American Journal of Medical Genetics. Part A. 143: 1227-30. PMID 17486624 DOI: 10.1002/ajmg.a.31732 |
0.569 |
|
2005 |
Young MJ, Borrás T, Walter M, Ritch R. Tissue bioengineering: potential applications to glaucoma. Archives of Ophthalmology. 123: 1725-1731. PMID 16344446 DOI: 10.1001/Archopht.123.12.1725 |
0.302 |
|
2004 |
Gould DB, Walter MA. Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. American Journal of Medical Genetics. Part A. 131: 205-8. PMID 15487006 DOI: 10.1002/ajmg.a.30227 |
0.552 |
|
2004 |
Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. Bmc Medical Genetics. 5: 17. PMID 15219231 DOI: 10.1186/1471-2350-5-17 |
0.558 |
|
2002 |
Friedman JS, Faucher M, Hiscott P, Biron VL, Malenfant M, Turcotte P, Raymond V, Walter MA. Protein localization in the human eye and genetic screen of opticin. Human Molecular Genetics. 11: 1333-42. PMID 12019215 DOI: 10.1093/Hmg/11.11.1333 |
0.608 |
|
2002 |
Friedman JS, Walter MA. Biomedicine. Under pressure. Science (New York, N.Y.). 295: 983-4. PMID 11834805 DOI: 10.1126/Science.1069950 |
0.563 |
|
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