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PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, Houlden H, Campeau PM. Tremblay-Laganière C, et al. Among authors: campeau pm. Clin Genet. 2021 Feb;99(2):313-317. doi: 10.1111/cge.13877. Epub 2020 Nov 27. Clin Genet. 2021. PMID: 33156547 Free PMC article.
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N. Cheung YH, et al. Among authors: campeau pm. Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026. Epub 2013 May 23. Am J Hum Genet. 2013. PMID: 23731537 Free PMC article.
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Brownstein CA, et al. Among authors: campeau pm. Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28. Eur J Med Genet. 2013. PMID: 24176758 Free PMC article.
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K. Kortüm F, et al. Among authors: campeau pm. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915598
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Machol K, et al. Among authors: campeau pm. Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26. Am J Med Genet A. 2017. PMID: 27888646 Free PMC article.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W; DDD Study; CAUSES Study; Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ. Yan K, et al. Among authors: campeau pm. Am J Hum Genet. 2017 Jan 5;100(1):91-104. doi: 10.1016/j.ajhg.2016.11.011. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939640 Free PMC article.
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.
Ranza E, Huber C, Levin N, Baujat G, Bole-Feysot C, Nitschke P, Masson C, Alanay Y, Al-Gazali L, Bitoun P, Boute O, Campeau P, Coubes C, McEntagart M, Elcioglu N, Faivre L, Gezdirici A, Johnson D, Mihci E, Nur BG, Perrin L, Quelin C, Terhal P, Tuysuz B, Cormier-Daire V. Ranza E, et al. Clin Genet. 2017 Jun;91(6):868-880. doi: 10.1111/cge.12885. Epub 2017 Feb 23. Clin Genet. 2017. PMID: 28229453
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium; Kinoshita T, Dyment DA, Boycott KM, Campeau PM. Johnstone DL, et al. Among authors: campeau pm. Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077. Hum Mol Genet. 2017. PMID: 28334793
206 results