Concepedia

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Gayle B. Collin, Jan D. Marshall, Akihiro Ikeda, W. Venus So, Isabelle Russell‐Eggitt, Pietro Maffei, Sebastian Beck, Cornelius F. Boerkoel, Nicola Sicolo, Mitchell Martin,

Nature Genetics · 2002 · 409 citations · 16 references

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16

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Louis M. Kunkel, Kirby D. Smith, Samuel H. Boyer et al. · Proceedings of the National Academy of Sciences · 1977 · 1.4K citations · Full text

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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Nicholas Katsanis, Stephen J. Ansley, José L. Badano et al. · Science · 2001 · 655 citations

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Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

Tom Hearn, Glenn L. Renforth, C. Mirella Spalluto et al. · Nature Genetics · 2002 · 315 citations

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Mutations in MKKS cause Bardet-Biedl syndrome

Anne Slavotinek, Edwin M. Stone, Kirk Mykytyn et al. · Nature Genetics · 2000 · 270 citations

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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Kirk Mykytyn, Terry A. Braun, Rivka Carmi et al. · Nature Genetics · 2001 · 269 citations

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