Search Results - "Campeau, P. M."

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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Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders by Burrage, Lindsay C, Nagamani, Sandesh C S, Campeau, Philippe M, Lee, Brendan H

“…Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare inborn errors of metabolism and the more common…”
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The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence by Murray, Natalia, Hanna, B, Graf, Nicole, Fu, He, Mylène, Veronneau, Campeau, P.M, Ronan, Anne

“…Abstract Infantile myofibromatosis is characterized by benign myofibroblastic tumors within skin, muscle, bone or viscera which have a characteristic staining…”
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MYOD1 involvement in myopathy by Lopes, Fátima Daniela Teixeira, Miguet, M., Mucha, B. E., Gauthier, J., Saillour, V., Nguyen, C.-T. É., Vanasse, M., Ellezam, B., Michaud, J. L., Soucy, J.-F., Campeau, P. M.

“…[Excerpt] Introduction Myogenic Differentiation 1 (MYOD1) encodes a transcription factor that plays an important role in myogenic determination into mature…”
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Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL by Onoufriadis, A., Simpson, J. K., McDonald, C., Nguyen, T. T. M., Campeau, P. M., Simpson, M. A., Martinez, A. E., McGrath, J. A.

“…Click here for the corresponding questions to this CME article…”
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Next-generation sequencing for disorders of low and high bone mineral density by Sule, G., Campeau, P. M., Zhang, V. W., Nagamani, S. C. S., Dawson, B. C., Grover, M., Bacino, C. A., Sutton, V. R., Brunetti-Pierri, N., Lu, J. T., Lemire, E., Gibbs, R. A., Cohn, D. H., Cui, H., Wong, L.-J., Lee, B. H.

“…Summary To achieve an efficient molecular diagnosis of osteogenesis imperfecta (OI), Ehlers–Danlos syndrome (EDS), and osteopetrosis (OPT), we designed a…”
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Clinical features and course of brain metastases in colorectal cancer: an experience from a single institution by Damiens, K, Ayoub, J P M, Lemieux, B, Aubin, F, Saliba, W, Campeau, M P, Tehfe, M

“…Brain metastases from colorectal cancer (crc) are quite rare. Here, we review the characteristics, presentation, and clinical course of such patients at our…”
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Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis by Premkumar, M H, Sule, G, Nagamani, S C, Chakkalakal, S, Nordin, A, Jain, M, Ruan, M Z, Bertin, T, Dawson, B, Zhang, J, Schady, D, Bryan, N S, Campeau, P M, Erez, A, Lee, B

“…Necrotizing enterocolitis (NEC), the most common neonatal gastrointestinal emergency, results in significant mortality and morbidity, yet its pathogenesis…”
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Long-term outcome in methylmalonic aciduria: A series of 30 French patients by Cosson, M.A., Benoist, J.F., Touati, G., Déchaux, M., Royer, N., Grandin, L., Jais, J.P., Boddaert, N., Barbier, V., Desguerre, I., Campeau, P.M., Rabier, D., Valayannopoulos, V., Niaudet, P., de Lonlay, P.

“…To better delineate the natural history of patients with methylmalonic aciduria (MMA). Thirty patients with vitamin-B 12-unresponsive MMA (25 aged 1.5 to 22.0…”
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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta by Laine, Christine M, Joeng, Kyu Sang, Campeau, Philippe M, Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T, Pekkinen, Minna, Wessman, Maija, Heino, Terhi J, Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G, Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R, Cohn, Daniel H, Gibbs, Richard A, Lee, Brendan H, Mäkitie, Outi

“…This report identifies human skeletal diseases associated with mutations in WNT1 in a family with dominantly inherited early-onset osteoporosis and in another…”
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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy by Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril

“…Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 ( CHD5 ) gene encodes a subunit of the nucleosome remodeling…”
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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis by CAMPEAU, Philippe M, LU, James T, WHYTE, Michael P, LEE, Brendan H, SULE, Gautam, JIANG, Ming-Ming, BAE, Yangjin, MADAN, Simran, HÖGLER, Wolfgang, SHAW, Nicholas J, MUMM, Steven, GIBBS, Richard A

“…Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and…”
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Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation by Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng‐Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H

“…ABSTRACT In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5′…”
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Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene by Grover, Monica, Campeau, Philippe M, Lietman, Caressa Dee, Lu, James T, Gibbs, Richard A, Schlesinger, Alan E, Lee, Brendan H

“…ABSTRACT Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by…”
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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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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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