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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2000 | 1 |
2007 | 1 |
2012 | 1 |
2016 | 1 |
2017 | 1 |
2018 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 55023
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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5.
Eur J Hum Genet. 2018.
PMID: 29209020
Free PMC article.
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.
Webster E, Cho MT, Alexander N, Desai S, Naidu S, Bekheirnia MR, Lewis A, Retterer K, Juusola J, Chung WK.
Webster E, et al.
Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001172. doi: 10.1101/mcs.a001172.
Cold Spring Harb Mol Case Stud. 2016.
PMID: 27900362
Free PMC article.
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Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.
de Ligt J, et al.
N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.
N Engl J Med. 2012.
PMID: 23033978
Free article.
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Identification of a WD40 repeat-containing isoform of PHIP as a novel regulator of beta-cell growth and survival.
Podcheko A, Northcott P, Bikopoulos G, Lee A, Bommareddi SR, Kushner JA, Farhang-Fallah J, Rozakis-Adcock M.
Podcheko A, et al.
Mol Cell Biol. 2007 Sep;27(18):6484-96. doi: 10.1128/MCB.02409-06. Epub 2007 Jul 16.
Mol Cell Biol. 2007.
PMID: 17636024
Free PMC article.
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Cloning and characterization of PHIP, a novel insulin receptor substrate-1 pleckstrin homology domain interacting protein.
Farhang-Fallah J, Yin X, Trentin G, Cheng AM, Rozakis-Adcock M.
Farhang-Fallah J, et al.
J Biol Chem. 2000 Dec 22;275(51):40492-7. doi: 10.1074/jbc.C000611200.
J Biol Chem. 2000.
PMID: 11018022
Free article.
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