Search Results - "Campeau, PM"

Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability by Edvardson, Simon, Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Shahrour, Maher, St-Denis, Anik, Shaag, Avraham, Damseh, Nadira, Le Deist, Françoise, Bryceson, Yenan, Abu-Libdeh, Bassam, Campeau, Philippe M, Kinoshita, Taroh, Elpeleg, Orly

“…Of our 1400 exome-studied patients, 67% originate from consanguineous families. ∼80% suffer from variable degree of intellectual disability (ID). The search…”
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ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy by Mattison, KA, Tossing, G, Mulroe, F, Simmons, C, Butler, KM, Schreiber, A, Alsadah, A, Neilson, DE, Naess, K, Wedell, A, Wredenberg, A, Sorlin, A, McCann, E, Burghel, GJ, Menendez, B, Hoganson, GE, Botto, LD, Filloux, FM, Aledo-Serrano, Á, Gil-Nagel, A, Tatton-Brown, K, Verbeek, NE, van Hirtum-Das, M, Breckpot, J, Hammer, TB, Møller, RS, Whitney, A, Douglas, AGL, Kharbanda, M, Brunetti-Pierri, N, Morleo, M, Nigro, V, May, HJ, Tao, JX, Argili, E, Sherr, EH, Dobyns, WB, Consortium, GER, Baines, RA, Warwicker, J, Parker, JA, Banka, S, Campeau, PM, Escayg, A

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome by Verberne, Eline A., van der Laan, Liselot, Haghshenas, Sadegheh, Rooney, Kathleen, Levy, Michael A., Alders, Mariëlle, Maas, Saskia M., Jansen, Sandra, Lieden, Agne, Anderlid, Britt-Marie, Rafael-Croes, Louise, Campeau, Philippe M., Chaudhry, Ayeshah, Koolen, David A., Pfundt, Rolph, Hurst, Anna C. E., Tran-Mau-Them, Frederic, Bruel, Ange-Line, Lambert, Laetitia, Isidor, Bertrand, Mannens, Marcel M. A. M., Sadikovic, Bekim, Henneman, Peter, van Haelst, Mieke M.

“…JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive…”
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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures” by Costantini, Alice, Valta, Helena, Baratang, Nissan Vida, Yap, Patrick, Bertola, Débora R., Yamamoto, Guilherme L., Kim, Chong A., Chen, Jiani, Wierenga, Klaas J., Fanning, Elizabeth A., Escobar, Luis, McWalter, Kirsty, McLaughlin, Heather, Willaert, Rebecca, Begtrup, Amber, Alm, Jessica J., Reinhardt, Dieter P., Mäkitie, Outi, Campeau, Philippe M.

“…Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some…”
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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability by Kasher, Paul R., Schertz, Katherine E., Thomas, Megan, Jackson, Adam, Annunziata, Silvia, Ballesta-Martinez, María J., Campeau, Philippe M., Clayton, Peter E., Eaton, Jennifer L., Granata, Tiziana, Guillén-Navarro, Encarna, Hernando, Cristina, Laverriere, Caroline E., Liedén, Agne, Villa-Marcos, Olaya, McEntagart, Meriel, Nordgren, Ann, Pantaleoni, Chiara, Pebrel-Richard, Céline, Sarret, Catherine, Sciacca, Francesca L., Wright, Ronnie, Kerr, Bronwyn, Glasgow, Eric, Banka, Siddharth

“…Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding…”
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A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers by Patel, R.M., Nagamani, S.C.S., Cuthbertson, D., Campeau, P.M., Krischer, J.P., Shapiro, J.R., Steiner, R.D., Smith, P.A., Bober, M.B., Byers, P.H., Pepin, M., Durigova, M., Glorieux, F.H., Rauch, F., Lee, B.H., Hart, T., Sutton, V.R.

“…Osteogenesis imperfecta (OI) is the most common skeletal dysplasia that predisposes to recurrent fractures and bone deformities. In spite of significant…”
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Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature by Basalom, Shuaa, Fiscaletti, Mélissa, Miranda, Valancy, Huber, Céline, Couture, Guillaume, Drouin, Régen, Monceau, Élise, Wavrant, Sandrine, Dubé, Johanne, Mäkitie, Outi, Cormier-Daire, Valérie, Campeau, Philippe M.

“…Calvarial Doughnut Lesions with Bone Fragility (CDL) is an autosomal dominant genetic disease, characterized by low bone mineral density, multiple fractures…”
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Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with "corner fractures" by Alm, JJ, Costantini, A, Valta, H, Baratang, NV, Yap, P, Bertola, D, Yamamoto, G, Kim, CA, Chen, JN, Wierenga, KJ, Fanning, EA, Escobar, L, Mcwalter, K, Mclaughlin, H, Willaert, R, Begtrup, A, Reinhardt, DP, Makitie, O, Campeau, PM

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