HuGE Literature Finder
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| 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, |
| A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. Clinical genetics 2007 Nov 72 (5): 454-9. Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder |
| 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, |
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