| Year |
Citation |
Score |
| 2019 |
Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, et al. Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. American Journal of Medical Genetics. Part A. PMID 31876392 DOI: 10.1002/Ajmg.A.61464 |
0.347 |
|
| 2019 |
Shalhub S, Byers PH, Hicks KL, Coleman DM, Davis FM, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Charlton-Ouw K, Behrendt CA, et al. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. Journal of Vascular Surgery. PMID 31353273 DOI: 10.1016/J.Jvs.2019.04.487 |
0.33 |
|
| 2019 |
Schwarze U, Cundy T, Liu YJ, Hofman PL, Byers PH. Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta. American Journal of Medical Genetics. Part A. PMID 31179625 DOI: 10.1002/Ajmg.A.61170 |
0.41 |
|
| 2019 |
Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, Davis FM, Regalado ES, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, et al. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. Journal of Vascular Surgery. PMID 31126764 DOI: 10.1016/J.Jvs.2019.01.069 |
0.348 |
|
| 2019 |
Karasozen Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ, Alcantara D, O'Driscoll M, Dobyns WB, Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M. Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms. American Journal of Human Genetics. PMID 31031011 DOI: 10.1016/J.Ajhg.2019.03.014 |
0.314 |
|
| 2019 |
Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, et al. Mobility in osteogenesis imperfecta: a multicenter North American study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30918359 DOI: 10.1038/S41436-019-0491-4 |
0.328 |
|
| 2019 |
Osbun JW, Karasozen Y, Parada C, Busald T, Tatman P, Gonzalez-Cuyar L, Hale C, Alcantra D, O’Driscoll M, Dobyns W, Murray M, Kim LJ, Byers P, Dorschner M, Ferreira M. Somatic Platelet Derived Growth Factor Receptor Beta Activating Variants in Fusiform Cerebral Aneurysms Neurosurgery. 66. DOI: 10.1093/Neuros/Nyz310_677 |
0.336 |
|
| 2018 |
Alhamdi S, Lee YC, Chowdhury S, Byers PH, Gottschalk M, Taft RJ, Joeng KS, Lee BH, Bird LM. Heterozygous WNT1 variant causing a variable bone phenotype. American Journal of Medical Genetics. Part A. PMID 30246918 DOI: 10.1002/Ajmg.A.40347 |
0.394 |
|
| 2018 |
Makareeva E, Sun G, Mirigian LS, Mertz EL, Vera JC, Espinoza NA, Yang K, Chen D, Klein TE, Byers PH, Leikin S. Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta. Plos One. 13: e0200264. PMID 29990383 DOI: 10.1371/Journal.Pone.0200264 |
0.402 |
|
| 2018 |
Cundy T, Dray M, Delahunt J, Hald JD, Langdahl B, Li C, Szybowska M, Mohammed S, Duncan EL, McInerney-Leo AM, Wheeler PG, Roschger P, Klaushofer K, Rai J, Weis M, ... ... Byers PH, et al. Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 29669177 DOI: 10.1002/Jbmr.3424 |
0.389 |
|
| 2018 |
Bally I, Rossi V, Dalonneau F, Gröbner R, Amberger A, Stoiber H, Kapferer I, Byers P, Zschocke J, Thielens N, Gaboriaud C. Two missense C1S mutations, associated to the periodontal Ehlers–Danlos syndrome, lead to the same extracellular molecular outcome Molecular Immunology. 102: 152-153. DOI: 10.1016/J.Molimm.2018.06.073 |
0.35 |
|
| 2017 |
Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28817112 DOI: 10.1038/Gim.2017.115 |
0.406 |
|
| 2017 |
Cheng A, Dinulos MBP, Neufeld-Kaiser W, Rosenfeld J, Kyriss M, Madan-Khetarpal S, Risheg H, Byers PH, Liu YJ. 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy. American Journal of Medical Genetics. Part A. PMID 28464518 DOI: 10.1002/Ajmg.A.38254 |
0.318 |
|
| 2017 |
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175: 8-26. PMID 28306229 DOI: 10.1002/Ajmg.C.31552 |
0.397 |
|
| 2017 |
Bloom L, Byers P, Francomano C, Tinkle B, Malfait F. The international consortium on the Ehlers-Danlos syndromes. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175: 5-7. PMID 28306227 DOI: 10.1002/Ajmg.C.31547 |
0.331 |
|
| 2017 |
Vandervore L, Stouffs K, Tanyalçin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin MG, Petit F, Khau Van Kien P, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Jansen AC. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. Journal of Medical Genetics. PMID 28258187 DOI: 10.1136/Jmedgenet-2016-104421 |
0.332 |
|
| 2017 |
Christine G, Kapferer-Seebacher I, Stoiber H, Bally I, Amberger A, Rossi V, Thielens NM, Byers P, Zschocke J. Pathogenic mutations in C1R and C1S: In quest for molecular mechanisms Molecular Immunology. 89: 188-189. DOI: 10.1016/J.Molimm.2017.06.185 |
0.317 |
|
| 2017 |
Jansen AC, Vandervore L, Tanyalçin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin MG, Petit F, Kien PKV, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Stouffs K. Bi-allelic mutations in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts European Journal of Paediatric Neurology. 21. DOI: 10.1016/J.Ejpn.2017.04.922 |
0.301 |
|
| 2016 |
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, ... ... Byers PH, et al. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. American Journal of Human Genetics. PMID 27745832 DOI: 10.1016/J.Ajhg.2016.08.019 |
0.383 |
|
| 2016 |
Zarate YA, Clingenpeel R, Sellars EA, Tang X, Kaylor JA, Bosanko K, Linam LE, Byers PH. COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse. American Journal of Medical Genetics. Part A. PMID 27090748 DOI: 10.1002/Ajmg.A.37664 |
0.309 |
|
| 2015 |
Pepin MG, Byers PH. What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 169: 307-13. PMID 26566591 DOI: 10.1002/Ajmg.C.31459 |
0.343 |
|
| 2015 |
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, ... ... Byers P, et al. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. American Journal of Human Genetics. 97: 483-92. PMID 26320891 DOI: 10.1016/J.Ajhg.2015.08.001 |
0.425 |
|
| 2015 |
Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. American Journal of Medical Genetics. Part A. PMID 26086840 DOI: 10.1002/Ajmg.A.37209 |
0.409 |
|
| 2015 |
Schleit J, Bailey SS, Tran T, Chen D, Stowers S, Schwarze U, Byers PH. Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen. Human Mutation. 36: 728-39. PMID 25963598 DOI: 10.1002/Humu.22812 |
0.357 |
|
| 2015 |
Jørgensen A, Fagerheim T, Rand-Hendriksen S, Lunde PI, Vorren TO, Pepin MG, Leistritz DF, Byers PH. Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family. European Journal of Human Genetics : Ejhg. 23: 796-802. PMID 25205403 DOI: 10.1038/Ejhg.2014.181 |
0.42 |
|
| 2015 |
Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, et al. A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clinical Genetics. 87: 133-40. PMID 24754836 DOI: 10.1111/Cge.12409 |
0.331 |
|
| 2014 |
Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 881-8. PMID 24922459 DOI: 10.1038/Gim.2014.72 |
0.405 |
|
| 2014 |
Murray ML, Yang M, Fauth C, Byers PH. FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications. American Journal of Medical Genetics. Part A. 164: 1750-5. PMID 24677762 DOI: 10.1002/Ajmg.A.36492 |
0.39 |
|
| 2014 |
Byers PH, Murray ML. Ehlers-Danlos syndrome: a showcase of conditions that lead to understanding matrix biology. Matrix Biology : Journal of the International Society For Matrix Biology. 33: 10-5. PMID 23920413 DOI: 10.1016/J.Matbio.2013.07.005 |
0.376 |
|
| 2013 |
Pepin MG, Schwarze U, Singh V, Romana M, Jones-Lecointe A, Byers PH. Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations. Molecular Genetics & Genomic Medicine. 1: 194-205. PMID 24498616 DOI: 10.1002/Mgg3.21 |
0.365 |
|
| 2013 |
Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. American Journal of Human Genetics. 92: 590-7. PMID 23499310 DOI: 10.1016/J.Ajhg.2013.02.009 |
0.416 |
|
| 2013 |
Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, ... ... Byers PH, et al. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Human Molecular Genetics. 22: 1-17. PMID 22949511 DOI: 10.1093/Hmg/Dds371 |
0.451 |
|
| 2012 |
Byers PH, Murray ML. Heritable Collagen Disorders: The Paradigm of the Ehlers-Danlos Syndrome. The Journal of Investigative Dermatology. 132: E6-E11. PMID 26875441 DOI: 10.1038/Skinbio.2012.3 |
0.331 |
|
| 2012 |
Byers PH, Pyott SM. Recessively inherited forms of osteogenesis imperfecta. Annual Review of Genetics. 46: 475-97. PMID 23145505 DOI: 10.1146/Annurev-Genet-110711-155608 |
0.441 |
|
| 2012 |
Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, ... ... Byers PH, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nature Genetics. 44: 922-7. PMID 22772368 DOI: 10.1038/Ng.2349 |
0.34 |
|
| 2012 |
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics. 90: 925-33. PMID 22541558 DOI: 10.1016/J.Ajhg.2012.04.004 |
0.4 |
|
| 2012 |
Mitchell AL, Judis LM, Schwarze U, Vaynshtok PM, Drumm ML, Byers PH. Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 gene Connective Tissue Research. 53: 267-276. PMID 22149965 DOI: 10.3109/03008207.2011.636160 |
0.337 |
|
| 2012 |
van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. European Journal of Human Genetics : Ejhg. 20: 11-9. PMID 21829228 DOI: 10.1038/Ejhg.2011.141 |
0.385 |
|
| 2012 |
Roschger P, Fratzl-Zelman N, Blouin S, Misof B, Schwarze U, Byers PH, Klaushofer K, King A, Cundy T. Pathological hyper-mineralization of bone matrix in two adult siblings with mutations in COL1A1 that affect C-propeptide cleavage sites in pro alpha1(I) chains Bone. 51. DOI: 10.1016/J.Bone.2012.08.045 |
0.343 |
|
| 2011 |
Leistritz DF, Pepin MG, Schwarze U, Byers PH. COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 717-22. PMID 21637106 DOI: 10.1097/Gim.0B013E3182180C89 |
0.41 |
|
| 2011 |
Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K, Sussman MD, Weis M, Eyre DR, Russell DW, McCarthy KJ, ... ... Byers PH, et al. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Human Molecular Genetics. 20: 1595-609. PMID 21282188 DOI: 10.1093/Hmg/Ddr037 |
0.4 |
|
| 2011 |
Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH. Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 125-30. PMID 21239989 DOI: 10.1097/Gim.0B013E318202E0F6 |
0.32 |
|
| 2010 |
Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Generalized connective tissue disease in Crtap-/- mouse. Plos One. 5: e10560. PMID 20485499 DOI: 10.1371/Journal.Pone.0010560 |
0.351 |
|
| 2010 |
Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, ... Byers PH, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. American Journal of Human Genetics. 86: 551-9. PMID 20362275 DOI: 10.1016/J.Ajhg.2010.02.022 |
0.48 |
|
| 2010 |
Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. American Journal of Human Genetics. 86: 389-98. PMID 20188343 DOI: 10.1016/J.Ajhg.2010.01.034 |
0.449 |
|
| 2009 |
Khalique Z, Lyons OTA, Clough RE, Bell RE, Reidy JF, Schwarze U, Byers PH, Taylor PR. Successful Endovascular Repair of Acute Type B Aortic Dissection in Undiagnosed Ehlers-Danlos Syndrome Type IV European Journal of Vascular and Endovascular Surgery. 38: 608-609. PMID 19695909 DOI: 10.1016/J.Ejvs.2009.07.009 |
0.36 |
|
| 2009 |
Tran-Fadulu V, Pannu H, Kim DH, Vick GW, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. Journal of Medical Genetics. 46: 607-13. PMID 19542084 DOI: 10.1136/Jmg.2008.062844 |
0.362 |
|
| 2009 |
Mitchell AL, Schwarze U, Jennings JF, Byers PH. Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS). Human Mutation. 30: 995-1002. PMID 19370768 DOI: 10.1002/Humu.21000 |
0.441 |
|
| 2009 |
Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Human Molecular Genetics. 18: 463-71. PMID 18996919 DOI: 10.1093/Hmg/Ddn374 |
0.467 |
|
| 2008 |
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, ... ... Byers PH, et al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Human Mutation. 29: 1435-42. PMID 18566967 DOI: 10.1002/Humu.20799 |
0.468 |
|
| 2008 |
Pace JM, Wiese M, Drenguis AS, Kuznetsova N, Leikin S, Schwarze U, Chen D, Mooney SH, Unger S, Byers PH. Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. The Journal of Biological Chemistry. 283: 16061-7. PMID 18375391 DOI: 10.1074/Jbc.M801982200 |
0.392 |
|
| 2008 |
Chan TF, Poon A, Basu A, Addleman NR, Chen J, Phong A, Byers PH, Klein TE, Kwok PY. Natural variation in four human collagen genes across an ethnically diverse population. Genomics. 91: 307-14. PMID 18272325 DOI: 10.1016/J.Ygeno.2007.12.008 |
0.459 |
|
| 2008 |
Chamberlain JR, Deyle DR, Schwarze U, Wang P, Hirata RK, Li Y, Byers PH, Russell DW. Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta. Molecular Therapy : the Journal of the American Society of Gene Therapy. 16: 187-93. PMID 17955022 DOI: 10.1038/Sj.Mt.6300339 |
0.365 |
|
| 2008 |
Sybert VP, Byers PH, Hall JG. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. Clinical Genetics. 15: 160-166. PMID 104811 DOI: 10.1111/J.1399-0004.1979.Tb01755.X |
0.313 |
|
| 2008 |
Han S, Makareeva E, McBride DJ, Phillips CL, Schwarze U, Pace JM, Byers PH, Visse R, Nagase H, Leikin S. Type I collagen homotrimers may alter tissue remodeling Matrix Biology. 27: 29. DOI: 10.1016/J.Matbio.2008.09.296 |
0.339 |
|
| 2007 |
Hjorten R, Hansen U, Underwood RA, Telfer HE, Fernandes RJ, Krakow D, Sebald E, Wachsmann-Hogiu S, Bruckner P, Jacquet R, Landis WJ, Byers PH, Pace JM. Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. Bone. 41: 535-42. PMID 17693149 DOI: 10.1016/J.Bone.2007.06.024 |
0.373 |
|
| 2007 |
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, ... ... Byers PH, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Human Mutation. 28: 209-21. PMID 17078022 DOI: 10.1002/Humu.20429 |
0.44 |
|
| 2006 |
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 127: 291-304. PMID 17055431 DOI: 10.1016/J.Cell.2006.08.039 |
0.435 |
|
| 2006 |
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, ... ... Byers PH, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. The New England Journal of Medicine. 355: 788-98. PMID 16928994 DOI: 10.1056/Nejmoa055695 |
0.333 |
|
| 2006 |
Morello R, Bertin T, Hicks J, Castagnola P, Glorieux FH, Bachinger H, Byers PH, Eyre DR, Boyce BF, Lee B. Prolyl 3_hydroxylation and recessive osteogenesis imperfecta Matrix Biology. 25. DOI: 10.1016/J.Matbio.2006.08.176 |
0.348 |
|
| 2006 |
Byers PH. Molecular mechanisms of inherited collagen disorders Matrix Biology. 25. DOI: 10.1016/J.Matbio.2006.08.019 |
0.311 |
|
| 2005 |
Singleton AC, Mitchell AL, Byers PH, Potter KA, Pace JM. Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. Human Mutation. 25: 348-52. PMID 15776436 DOI: 10.1002/Humu.20152 |
0.37 |
|
| 2004 |
Persikov AV, Pillitteri RJ, Amin P, Schwarze U, Byers PH, Brodsky B. Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Human Mutation. 24: 330-7. PMID 15365990 DOI: 10.1002/Humu.20091 |
0.426 |
|
| 2004 |
Byers PH. Determination of the molecular basis of Marfan syndrome: a growth industry. The Journal of Clinical Investigation. 114: 161-3. PMID 15254580 DOI: 10.1172/Jci22399 |
0.376 |
|
| 2004 |
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. American Journal of Human Genetics. 74: 917-30. PMID 15077201 DOI: 10.1086/420794 |
0.408 |
|
| 2004 |
Ries-Levavi L, Ish-Shalom T, Frydman M, Lev D, Cohen S, Barkai G, Goldman B, Byers P, Friedman E. Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. Human Mutation. 23: 399-400. PMID 15024745 DOI: 10.1002/Humu.9230 |
0.451 |
|
| 2004 |
Kaiser FJ, Brega P, Raff ML, Byers PH, Gallati S, Kay TT, de Almeida S, Horsthemke B, Lüdecke HJ. Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. European Journal of Human Genetics : Ejhg. 12: 121-6. PMID 14560312 DOI: 10.1038/Sj.Ejhg.5201094 |
0.393 |
|
| 2003 |
Pace JM, Corrado M, Missero C, Byers PH. Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. Matrix Biology : Journal of the International Society For Matrix Biology. 22: 3-14. PMID 12714037 DOI: 10.1016/S0945-053X(03)00007-6 |
0.367 |
|
| 2002 |
Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. American Journal of Human Genetics. 71: 451-65. PMID 12145749 DOI: 10.1086/342099 |
0.437 |
|
| 2002 |
Chuman H, Trobe JD, Petty EM, Schwarze U, Pepin M, Byers PH, Deveikis JP. Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. 22: 75-81. PMID 12131463 DOI: 10.1097/00041327-200206000-00002 |
0.354 |
|
| 2002 |
Johnson MT, Morrison S, Heeger S, Mooney S, Byers PH, Robin NH. A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. Journal of Medical Genetics. 39: 128-32. PMID 11836364 DOI: 10.1136/Jmg.39.2.128 |
0.414 |
|
| 2002 |
Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH. A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases Journal of Medical Genetics. 39: 23-29. PMID 11826020 DOI: 10.1136/Jmg.39.1.23 |
0.374 |
|
| 2002 |
Byers PH. Killing the messenger: new insights into nonsense-mediated mRNA decay. The Journal of Clinical Investigation. 109: 3-6. PMID 11781342 DOI: 10.1172/Jci14841 |
0.332 |
|
| 2001 |
Pace JM, Atkinson M, Willing MC, Wallis G, Byers PH. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. Human Mutation. 18: 319-26. PMID 11668615 DOI: 10.1002/Humu.1193 |
0.408 |
|
| 2001 |
Byers PH. An Exception to the Rule The New England Journal of Medicine. 345: 1203-1205. PMID 11642238 DOI: 10.1056/Nejm200110183451611 |
0.429 |
|
| 2001 |
Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH. Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV American Journal of Human Genetics. 69: 989-1001. PMID 11577371 DOI: 10.1086/324123 |
0.463 |
|
| 2001 |
Pace JM, Kuslich CD, Willing MC, Byers PH. Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proα1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta Journal of Medical Genetics. 38: 443-449. PMID 11432962 DOI: 10.1136/Jmg.38.7.443 |
0.324 |
|
| 2001 |
Kelly JW, Helenius A, Swoboda BEP, Byers PH. Folding defects in fibrillar collagens Philosophical Transactions of the Royal Society B: Biological Sciences. 356: 151-158. PMID 11260795 DOI: 10.1098/Rstb.2000.0760 |
0.431 |
|
| 2000 |
Barabas AP, Pinto YM, Pals G, Zijlstra JG, Tulleken JE, Byers PH, Schwarze U, Pepin M, Pyeritz RE. Ehlers-Danlos syndrome type IV [4] (multiple letters) The New England Journal of Medicine. 343: 366-368. PMID 10928897 DOI: 10.1056/Nejm200008033430513 |
0.356 |
|
| 2000 |
Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). American Journal of Human Genetics. 66: 1757-1765. PMID 10796876 DOI: 10.1086/302933 |
0.448 |
|
| 2000 |
Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. The New England Journal of Medicine. 342: 673-680. PMID 10706896 DOI: 10.1056/Nejm200003093421001 |
0.408 |
|
| 2000 |
Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV, the Vascular Type Obstetrical & Gynecological Survey. 55: 469-471. DOI: 10.1097/00006254-200008000-00004 |
0.361 |
|
| 2000 |
Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PH. Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. Human Genetics. 106: 19-28. DOI: 10.1007/S004399900198 |
0.475 |
|
| 1999 |
Schwarze U, Starman BJ, Byers PH. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. American Journal of Human Genetics. 65: 336-344. PMID 10417276 DOI: 10.1086/302512 |
0.364 |
|
| 1999 |
Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. American Journal of Human Genetics. 65: 308-17. PMID 10417273 DOI: 10.1086/302504 |
0.426 |
|
| 1999 |
Bateman JF, Freddi S, Lamandé SR, Byers P, Nasioulas S, Douglas J, Otway R, Kohonen‐Corish M, Edkins E, Forrest S. Reliable And Sensitive Detection Of Premature Termination Mutations Using A Protein Truncation Test Designed To Overcome Problems Of Nonsense-Mediated Mrna Instability Human Mutation. 13: 311-317. PMID 10220145 DOI: 10.1002/(Sici)1098-1004(1999)13:4<311::Aid-Humu8>3.0.Co;2-P |
0.36 |
|
| 1999 |
Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH. Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. American Journal of Medical Genetics. 82: 305-311. PMID 10051163 DOI: 10.1002/(Sici)1096-8628(19990212)82:4<305::Aid-Ajmg6>3.0.Co;2-C |
0.462 |
|
| 1999 |
Collins MH, Schwarze U, Carpentieri DF, Kaplan P, Nathanson K, Meyer JS, Byers PH. Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV. Pediatric and Developmental Pathology : the Official Journal of the Society For Pediatric Pathology and the Paediatric Pathology Society. 2: 86-93. PMID 9841712 DOI: 10.1007/S100249900095 |
0.428 |
|
| 1999 |
Nardi C, Schwarze U, Bufill JA, Sinha B, Pepin M, Byers PH. Parental mosaicism for a point mutation in a type III collagen (COI3AI) allele produces Ehlers-Danlos type IV (EDS4) in heterozygous offspring Genetics in Medicine. 1: 59-59. DOI: 10.1097/00125817-199901000-00072 |
0.437 |
|
| 1998 |
Qi M, Byers PH. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome Human Molecular Genetics. 7: 465-469. PMID 9467005 DOI: 10.1093/Hmg/7.3.465 |
0.393 |
|
| 1998 |
Colige A, Li S, Sieron A, Cohn D, Byers P, Prockop D, Lapière C, Nusgens B. Ehlers-Danlos type VIIC in human and dermatosparaxis in cattle are caused by mutations in the procollagen i amino-peptidase gene Journal of Dermatological Science. 16: S30. DOI: 10.1016/S0923-1811(98)83176-9 |
0.402 |
|
| 1997 |
Schwarze U, Goldstein JA, Byers PH. Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV American Journal of Human Genetics. 61: 1276-1286. PMID 9399899 DOI: 10.1086/301641 |
0.426 |
|
| 1997 |
Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. American Journal of Medical Genetics. 72: 94-105. PMID 9295084 DOI: 10.1002/(Sici)1096-8628(19971003)72:1<94::Aid-Ajmg20>3.0.Co;2-O |
0.457 |
|
| 1997 |
Pepin M, Atkinson M, Starman BJ, Byers PH. Strategies And Outcomes Of Prenatal Diagnosis For Osteogenesis Imperfecta: A Review Of Biochemical And Molecular Studies Completed In 129 Pregnancies Prenatal Diagnosis. 17: 559-570. PMID 9203215 DOI: 10.1002/(Sici)1097-0223(199706)17:6<559::Aid-Pd111>3.0.Co;2-G |
0.344 |
|
| 1997 |
Smith LT, Schwarze U, Goldstein J, Byers PH. Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. The Journal of Investigative Dermatology. 108: 241-7. PMID 9036918 DOI: 10.1111/1523-1747.Ep12286441 |
0.455 |
|
| 1996 |
Raff ML, Byers PH. Joint hypermobility syndromes. Current Opinion in Rheumatology. 8: 459-466. PMID 8941450 DOI: 10.1097/00002281-199609000-00012 |
0.342 |
|
| 1996 |
Milewicz DM, Byers PH, Reveille J, Hughes AL, Duvic M. A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific. Journal of Molecular Evolution. 42: 117-23. PMID 8919863 DOI: 10.1007/Bf02198836 |
0.305 |
|
| 1996 |
Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. American Journal of Medical Genetics. 62: 233-42. PMID 8882780 DOI: 10.1002/(Sici)1096-8628(19960329)62:3<233::Aid-Ajmg7>3.0.Co;2-U |
0.427 |
|
| 1996 |
Mayer SA, Rubin BS, Starman BJ, Byers PH. Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. Neurology. 47: 552-6. PMID 8757037 DOI: 10.1212/Wnl.47.2.552 |
0.382 |
|
| 1996 |
Toriello HV, Glover TW, Takahara K, Byers PH, Miller DE, Higgins JV, Greenspan DS. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nature Genetics. 13: 361-365. PMID 8673139 DOI: 10.1038/Ng0796-361 |
0.461 |
|
| 1996 |
North KN, Whiteman DA, Pepin MG, Byers PH. Cerebrovascular complications in Ehlers-Danlos syndrome type IV. Annals of Neurology. 38: 960-4. PMID 8526472 DOI: 10.1002/Ana.410380620 |
0.395 |
|
| 1995 |
Rose NJ, Mackay K, Byers PH, Dalgleish R. A Gly238Ser substitution in the α2 chain of type I collagen results in osteogenesis imperfecta type III Human Genetics. 95: 215-218. PMID 7860070 DOI: 10.1007/Bf00209405 |
0.429 |
|
| 1995 |
Byers PH. Ehlers-Danlos syndrome type IV: a genetic disorder in many guises. Journal of Investigative Dermatology. 105: 311-313. PMID 7665905 DOI: 10.1111/1523-1747.Ep12319926 |
0.361 |
|
| 1995 |
Culbert AA, Lowe MP, Atkinson M, Byers PH, Wallis GA, Kadler KE. Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite. The Biochemical Journal. 311: 815-20. PMID 7487936 DOI: 10.1042/Bj3110815 |
0.399 |
|
| 1994 |
Rose NJ, Mackay K, Byers PH, Dalgleish R. A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. Human Mutation. 3: 391-394. PMID 8081394 DOI: 10.1002/Humu.1380030411 |
0.36 |
|
| 1994 |
Byers PH. Molecular genetics of chondrodysplasias, including clues to development, structure, and function. Current Opinion in Rheumatology. 6: 345-350. PMID 8060773 DOI: 10.1097/00002281-199405000-00018 |
0.429 |
|
| 1994 |
Byers PH. Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. Journal of Investigative Dermatology. 103. DOI: 10.1038/Jid.1994.9 |
0.392 |
|
| 1994 |
Goldstein JA, Schwarze U, Witz A, Byers PH. Marked heterogenicity in COL3A1 mutations that produce the EDS type IV phenotype Matrix Biology. 14: 392-393. DOI: 10.1016/0945-053X(94)90117-1 |
0.418 |
|
| 1993 |
Willing MC, Pruchno CJ, Byers PH. Molecular heterogeneity in osteogenesis imperfecta type I. American Journal of Medical Genetics. 45: 223-227. PMID 8456806 DOI: 10.1002/Ajmg.1320450214 |
0.461 |
|
| 1993 |
Molyneux K, Starman BJ, Byers PH, Dalgleish R. A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. Human Genetics. 90: 621-628. PMID 8444468 DOI: 10.1007/Bf00202479 |
0.424 |
|
| 1993 |
DiMaio MS, Barth R, Koprivnikar KE, Sussman BL, Copel JA, Mahoney MJ, Byers PH, Cohn DH. First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography. Prenatal Diagnosis. 13: 589-96. PMID 8415424 DOI: 10.1002/Pd.1970130709 |
0.387 |
|
| 1993 |
McInnes RR, Byers PH. Biochemical genetics: examples of life after cloning Current Opinion in Genetics and Development. 3: 475-483. PMID 8353424 DOI: 10.1016/0959-437X(93)90123-7 |
0.388 |
|
| 1993 |
Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P. Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. Journal of Medical Genetics. 30: 492-6. PMID 8100856 DOI: 10.1136/Jmg.30.6.492 |
0.452 |
|
| 1993 |
Cohn DH, Zhang X, Byers PH. Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. Human Mutation. 2: 21-27. PMID 8097422 DOI: 10.1002/Humu.1380020105 |
0.411 |
|
| 1992 |
Milewicz DM, Pyeritz RE, Crawford ES, Byers PH. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. The Journal of Clinical Investigation. 89: 79-86. PMID 1729284 DOI: 10.1172/Jci115589 |
0.376 |
|
| 1992 |
LaBell TL, Milewicz DJ, Disteche CM, Byers PH. Thrombospondin II: partial cDNA sequence, chromosome location, and expression of a second member of the thrombospondin gene family in humans. Genomics. 12: 421-9. PMID 1559694 DOI: 10.1016/0888-7543(92)90430-Z |
0.312 |
|
| 1992 |
Wertelecki W, Smith LT, Byers P. Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC. The Journal of Pediatrics. 121: 558-64. PMID 1403389 DOI: 10.1016/S0022-3476(05)81144-8 |
0.344 |
|
| 1992 |
Edwards MJ, Wenstrup RJ, Byers PH, Cohn DH. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease Human Mutation. 1: 47-54. PMID 1301191 DOI: 10.1002/Humu.1380010108 |
0.429 |
|
| 1991 |
Cohn DH, Byers PH. Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta. Human Genetics. 87: 167-172. PMID 2066103 DOI: 10.1007/Bf00204175 |
0.388 |
|
| 1991 |
Pruchno CJ, Cohn DH, Wallis GA, Willing MC, Starman BJ, Zhang XM, Byers PH. Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. Human Genetics. 87: 33-40. PMID 2037280 DOI: 10.1007/Bf01213088 |
0.455 |
|
| 1991 |
Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. Journal of Medical Genetics. 28: 433-42. PMID 1895312 DOI: 10.1136/Jmg.28.7.433 |
0.375 |
|
| 1990 |
Willing MC, Cohn DH, Byers PH. Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. Journal of Clinical Investigation. 85: 282-290. PMID 2295701 DOI: 10.1172/Jci114424 |
0.462 |
|
| 1990 |
Byers PH. Brittle bones - fragile molecules: disorders of collagen gene structure and expression Trends in Genetics. 6: 293-299. PMID 2238087 DOI: 10.1016/0168-9525(90)90235-X |
0.438 |
|
| 1990 |
Vissing H, Lee B, D'Alessio M, Ramirez F, Byers P, Superti-Furga A, Steinmann B. Characterization of large deletions in the pro-α1(III) mRNA from two Ehlers-Danlos type IV patients Annals of the New York Academy of Sciences. 580: 552-553. DOI: 10.1111/J.1749-6632.1990.Tb17988.X |
0.312 |
|
| 1990 |
Wenstrup R, Shrago A, Phillips C, Byers P, Cohn D. Osteogenesis Imperfecta Type IV Annals of the New York Academy of Sciences. 580: 546-548. DOI: 10.1111/J.1749-6632.1990.Tb17986.X |
0.336 |
|
| 1990 |
Cohn DH, Byers PH. Clinical screening for collagen defects in connective tissue diseases. Clinics in Perinatology. 17: 793-809. DOI: 10.1016/S0095-5108(18)30546-3 |
0.412 |
|
| 1989 |
Steinmann B, Superti‐Furga A, Joller‐Jemelka HI, Cetta G, Byers PH. Ehlers‐Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino‐terminal propeptide of type III procollagen American Journal of Medical Genetics. 34: 68-71. PMID 2816989 DOI: 10.1002/Ajmg.1320340113 |
0.337 |
|
| 1989 |
Starman BJ, Eyre D, Charbonneau H, Harrylock M, Weis MA, Weiss L, Graham JM, Byers PH. Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the Proα1(I) chains of type I collagen determines the clinical phenotype Journal of Clinical Investigation. 84: 1206-1214. PMID 2794057 DOI: 10.1172/Jci114286 |
0.354 |
|
| 1989 |
Sephel GC, Byers PH, Holbrook KA, Davidson JM. Heterogeneity of elastin expression in cutis laxa fibroblast strains. The Journal of Investigative Dermatology. 93: 147-53. PMID 2745999 DOI: 10.1111/1523-1747.Ep12277389 |
0.322 |
|
| 1989 |
Knisely AS, Abuelo D, Byers PH. Lethal osteogenesis imperfecta. Journal of Medical Genetics. 26: 410-411. PMID 2738906 DOI: 10.1136/Jmg.26.6.410-A |
0.306 |
|
| 1989 |
Superti-Furga A, Steinmann B, Ramirez F, Byers PH. Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Human Genetics. 82: 104-8. PMID 2722184 DOI: 10.1007/Bf00284038 |
0.444 |
|
| 1989 |
Byers PH. Inherited disorders of collagen gene structure and expression. American Journal of Medical Genetics. 34: 72-80. PMID 2683783 DOI: 10.1002/Ajmg.1320340114 |
0.433 |
|
| 1989 |
Holbrook KA, Byers PH. Skin is a window on heritable disorders of connective tissue. American Journal of Medical Genetics. 34: 105-121. PMID 2683775 DOI: 10.1002/Ajmg.1320340118 |
0.366 |
|
| 1988 |
Cohn DH, Byers PH. Osteogenesis imperfecta and other inherited disorders of the structure and synthesis of type I collagen: models for the analysis of mutations that result in inherited chondrodysplasias. Pathology and Immunopathology Research. 7: 132-138. PMID 3065765 DOI: 10.1159/000157108 |
0.416 |
|
| 1988 |
Cohn DH, Wenstrup RJ, Willing MC, Bonadio JF, Byers PH. General strategies for isolating the genes encoding type I collagen and for characterizing mutations which produce osteogenesis imperfecta. Annals of the New York Academy of Sciences. 543: 129-135. PMID 3063159 DOI: 10.1111/J.1749-6632.1988.Tb55325.X |
0.448 |
|
| 1988 |
Byers PH, Bonadio JF, Cohn DH, Starman BJ, Wenstrup RJ, Willing MC. Osteogenesis imperfecta: the molecular basis of clinical heterogeneity. Annals of the New York Academy of Sciences. 543: 117-128. PMID 3063158 DOI: 10.1111/J.1749-6632.1988.Tb55324.X |
0.415 |
|
| 1987 |
Byers PH, Wenstrup RJ, Bonadio JF, Starman B, Cohn DH. Molecular Basis of Inherited Disorders of Collagen Biosynthesis: Implications for Prenatal Diagnosis1 Current Problems in Dermatology. 16: 158-174. PMID 3556029 DOI: 10.1159/000413463 |
0.324 |
|
| 1986 |
Wenstrup RJ, Tsipouras P, Byers PH. Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen. Journal of Clinical Investigation. 78: 1449-1455. PMID 3782466 DOI: 10.1172/Jci112735 |
0.403 |
|
| 1986 |
Wenstrup RJ, Hunter AGW, Byers PH. Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen. Human Genetics. 74: 47-53. PMID 3759085 DOI: 10.1007/Bf00278784 |
0.408 |
|
| 1986 |
Cohn DH, Byers PH, Steinmann B, Gelinas RE. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele Proceedings of the National Academy of Sciences of the United States of America. 83: 6045-6047. PMID 3016737 DOI: 10.1073/Pnas.83.16.6045 |
0.44 |
|
| 1986 |
Tsipouras P, Byers PH, Schwartz RC, Chu ML, Weil D, Pepe G, Cassidy SB, Ramirez F. Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Human Genetics. 74: 41-6. PMID 2875936 DOI: 10.1007/Bf00278783 |
0.473 |
|
| 1985 |
Bonadio J, Byers PH. Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II. Nature. 316: 363-366. PMID 4022126 DOI: 10.1038/316363A0 |
0.457 |
|
| 1985 |
Byers PH, Holbrook KA. Molecular basis of clinical heterogeneity in the Ehlers-Danlos syndrome. Annals of the New York Academy of Sciences. 460: 298-310. PMID 3868954 DOI: 10.1111/J.1749-6632.1985.Tb51177.X |
0.476 |
|
| 1985 |
Barsh GS, Roush CL, Bonadio J, Byers PH, Gelinas RE. Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proceedings of the National Academy of Sciences of the United States of America. 82: 2870-4. PMID 3857621 DOI: 10.1073/Pnas.82.9.2870 |
0.585 |
|
| 1983 |
Byers PH, Shapiro JR, Rowe DW, David KE, Holbrook KA. Abnormal α2-chain in type I collagen from a patient with a form of osteogenesis imperfecta Journal of Clinical Investigation. 71: 689-697. PMID 6826730 DOI: 10.1172/Jci110815 |
0.373 |
|
| 1982 |
Shapiro JE, Phillips JA, Byers PH, Sanders R, Holbrook KA, Levin LS, Dorst J, Barsh GS, Peterson KE, Goldstein P. Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI type II). The Journal of Pediatrics. 100: 127-33. PMID 7057300 DOI: 10.1016/S0022-3476(82)80252-7 |
0.545 |
|
| 1982 |
Byers PH, Barsh GS, Holbrook KA. Molecular pathology in inherited disorders of collagen metabolism. Human Pathology. 13: 89-95. PMID 7042525 DOI: 10.1016/S0046-8177(82)80112-3 |
0.574 |
|
| 1982 |
Barsh GS, David KE, Byers PH. Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen. Proceedings of the National Academy of Sciences of the United States of America. 79: 3838-42. PMID 6954526 DOI: 10.1073/Pnas.79.12.3838 |
0.533 |
|
| 1982 |
Hollister DW, Byers PH, Holbrook KA. Genetic disorders of collagen metabolism. Advances in Human Genetics. 12: 1-87. PMID 6812396 DOI: 10.1007/978-1-4615-8315-8_1 |
0.364 |
|
| 1982 |
Holbrook KA, Byers PH. Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders. Journal of Investigative Dermatology. 79: 7-16. DOI: 10.1038/Jid.1982.3 |
0.339 |
|
| 1981 |
Barsh GS, Peterson KE, Byers PH. Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels. Collagen and Related Research. 1: 543-8. PMID 7346234 DOI: 10.1016/S0174-173X(81)80035-0 |
0.521 |
|
| 1981 |
Byers PH, Siegel RC, Peterson KE, Rowe DW, Holbrook KA, Smith LT, Chang YH, Fu JC. Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proceedings of the National Academy of Sciences of the United States of America. 78: 7745-9. PMID 6950413 DOI: 10.1073/Pnas.78.12.7745 |
0.347 |
|
| 1981 |
Barsh GS, Byers PH. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proceedings of the National Academy of Sciences of the United States of America. 78: 5142-6. PMID 6946461 DOI: 10.1073/Pnas.78.8.5142 |
0.586 |
|
| 1981 |
Byers PH, Barsh GS, Holbrook KA. Molecular mechanisms of connective tissue abnormalities in the Ehlers-Danlos syndrome. Collagen and Related Research. 1: 475-89. PMID 6125299 DOI: 10.1016/S0174-173X(81)80030-1 |
0.58 |
|
| 1981 |
Byers PH, Barsh GS, Peterson KE, Phillips JH, Shapiro J, Holbrook KA, Levin LS, Rowe DW, Scott CR. 705 BIOCHEMICAL CHARACTERIZATION OF PERINATAL LETHAL OSTEOGENESIS IMPERFECTA (01) AND ITS PRENATAL DETECTION Pediatric Research. 15: 559-559. DOI: 10.1203/00006450-198104001-00728 |
0.576 |
|
| 1980 |
Counts DF, Byers PH, Holbrook KA, Hegreberg GA. Dermatosparaxis in a Himalayan Cat: I. Biochemical Studies of Dermal Collagen Journal of Investigative Dermatology. 74: 96-99. PMID 7351504 DOI: 10.1111/1523-1747.Ep12519991 |
0.314 |
|
| 1980 |
Holbrook KA, Byers PH, Counts DF, Hegreberg GA. Dermatosparaxis in a Himalayan Cat: II. Ultrastructural Studies of Dermal Collagen Journal of Investigative Dermatology. 74: 100-104. PMID 7351497 DOI: 10.1111/1523-1747.Ep12520000 |
0.35 |
|
| 1980 |
Byers PH, Siegel RC, Holbrook KA, Narayanan AS, Bornstein P, Hall JG. X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. The New England Journal of Medicine. 303: 61-5. PMID 6104292 DOI: 10.1056/Nejm198007103030201 |
0.315 |
|
| 1979 |
Byers PH, Holbrook KA, McGillivray B, MacLeod PM, Lowry RB. Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Human Genetics. 47: 141-150. PMID 437782 DOI: 10.1007/Bf00273196 |
0.424 |
|
| 1978 |
Byers PH, Holbrook KA, Hall JG, Bornstein P, Chandler JW. A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils Human Genetics. 40: 157-169. PMID 414988 DOI: 10.1007/Bf00272296 |
0.359 |
|
| 1975 |
Lichtenstein JR, Byers PH, Smith BD, Martin GR. Identification of the collagenous proteins synthesized by cultured cells from human skin. Biochemistry. 14: 1589-1594. PMID 1092340 DOI: 10.1021/Bi00679A007 |
0.35 |
|
| 1974 |
Byers PH, McKenney KH, Liechtenstein JR, Martin GR. Preparation of type III procollagen and collagen from rat skin Biochemistry. 13: 5243-5248. PMID 4611481 DOI: 10.1021/Bi00722A030 |
0.347 |
|
| 1973 |
Lichtenstein JR, Martin GR, Kohn LD, Byers PH, McKusick VA. Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome Science. 182: 298-300. PMID 4742738 DOI: 10.1126/Science.182.4109.298 |
0.366 |
|
| Show low-probability matches. |
