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Year | Number of Results |
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1999 | 1 |
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2008 | 2 |
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2017 | 1 |
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.
Nat Genet. 2017.
PMID: 27841880
Free PMC article.
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Carrié A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J.
Carrié A, et al.
Nat Genet. 1999 Sep;23(1):25-31. doi: 10.1038/12623.
Nat Genet. 1999.
PMID: 10471494
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A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.
Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G.
Tabolacci E, et al.
Am J Med Genet A. 2006 Mar 1;140(5):482-7. doi: 10.1002/ajmg.a.31107.
Am J Med Genet A. 2006.
PMID: 16470793
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Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
Nawara M, Klapecki J, Borg K, Jurek M, Moreno S, Tryfon J, Bal J, Chelly J, Mazurczak T.
Nawara M, et al.
Am J Med Genet A. 2008 Dec 15;146A(24):3167-72. doi: 10.1002/ajmg.a.32613.
Am J Med Genet A. 2008.
PMID: 19012350
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Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF; S2D team; Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA.
Piton A, et al.
Hum Mol Genet. 2008 Dec 15;17(24):3965-74. doi: 10.1093/hmg/ddn300. Epub 2008 Sep 18.
Hum Mol Genet. 2008.
PMID: 18801879
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Functional impact of global rare copy number variation in autism spectrum disorders.
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Ri…
See abstract for full author list ➔
Pinto D, et al.
Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9.
Nature. 2010.
PMID: 20531469
Free PMC article.
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