WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
Christiansen, Helena E., Schwarze, Ulrike, Pyott, Shawna M., AlSwaid, Abdulrahman, Al Balwi, Mohammed, Alrasheed, Shatha, Pepin, Melanie G., Weis, Mary Ann, Eyre, David R., Byers, Peter H.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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Journal Article
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
Pyott, Shawna M., Pepin, Melanie G., Schwarze, Ulrike, Yang, Kathleen, Smith, Gretchen, Byers, Peter H.
Published in Genetics in medicine (01.02.2011)
Published in Genetics in medicine (01.02.2011)
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Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively
Keller, Rachel B, Tran, Thao T, Pyott, Shawna M, Pepin, Melanie G, Savarirayan, Ravi, McGillivray, George, Nickerson, Deborah A, Bamshad, Michael J, Byers, Peter H
Published in Genetics in medicine (01.04.2018)
Published in Genetics in medicine (01.04.2018)
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The views of parents who experience intergenerational poverty on parenting and play: a qualitative analysis
Smith, R. L., Stagnitti, K., Lewis, A. J., Pépin, G.
Published in Child : care, health & development (01.11.2015)
Published in Child : care, health & development (01.11.2015)
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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
PYOTT, Shawna M, SCHWARZE, Ulrike, SUSSMAN, Michael D, WEIS, Maryann, EYRE, David R, RUSSELL, David W, MCCARTHY, Kevin J, STEINER, Robert D, BYERS, Peter H, CHRISTIANSEN, Helena E, PEPIN, Melanie G, LEISTRITZ, Dru F, DINEEN, Richard, HARRIS, Catharine, BURTON, Barbara K, ANGLE, Brad, KIM, Katherine
Published in Human molecular genetics (15.04.2011)
Published in Human molecular genetics (15.04.2011)
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Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Vandervore, Laura, Stouffs, Katrien, Tanyalçin, Ibrahim, Vanderhasselt, Tim, Roelens, Filip, Holder-Espinasse, Muriel, Jørgensen, Agnete, Pepin, Melanie G, Petit, Florence, Khau Van Kien, Philippe, Bahi-Buisson, Nadia, Lissens, Willy, Gheldof, Alexander, Byers, Peter H, Jansen, Anna C
Published in Journal of medical genetics (01.06.2017)
Published in Journal of medical genetics (01.06.2017)
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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
Baldridge, Dustin, Schwarze, Ulrike, Morello, Roy, Lennington, Jennifer, Bertin, Terry K, Pace, James M, Pepin, Melanie G, Weis, MaryAnn, Eyre, David R, Walsh, Jennifer, Lambert, Deborah, Green, Andrew, Robinson, Haynes, Michelson, Melonie, Houge, Gunnar, Lindman, Carl, Martin, Judith, Ward, Jewell, Lemyre, Emmanuelle, Mitchell, John J, Krakow, Deborah, Rimoin, David L, Cohn, Daniel H, Byers, Peter H, Lee, Brendan
Published in Human mutation (01.12.2008)
Published in Human mutation (01.12.2008)
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Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family
Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H
Published in European journal of human genetics : EJHG (01.06.2015)
Published in European journal of human genetics : EJHG (01.06.2015)
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