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184 results

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Page 1
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Sen P, et al. Among authors: brumbaugh j. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23505205 Free PMC article.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Among authors: brumbaugh je. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
Hydrocortisone to Improve Survival without Bronchopulmonary Dysplasia.
Watterberg KL, Walsh MC, Li L, Chawla S, D'Angio CT, Goldberg RN, Hintz SR, Laughon MM, Yoder BA, Kennedy KA, McDavid GE, Backstrom-Lacy C, Das A, Crawford MM, Keszler M, Sokol GM, Poindexter BB, Ambalavanan N, Hibbs AM, Truog WE, Schmidt B, Wyckoff MH, Khan AM, Garg M, Chess PR, Reynolds AM, Moallem M, Bell EF, Meyer LR, Patel RM, Van Meurs KP, Cotten CM, McGowan EC, Hines AC, Merhar S, Peralta-Carcelen M, Wilson-Costello DE, Kilbride HW, DeMauro SB, Heyne RJ, Mosquera RA, Natarajan G, Purdy IB, Lowe JR, Maitre NL, Harmon HM, Hogden LA, Adams-Chapman I, Winter S, Malcolm WF, Higgins RD; Eunice Kennedy Shriver NICHD Neonatal Research Network. Watterberg KL, et al. N Engl J Med. 2022 Mar 24;386(12):1121-1131. doi: 10.1056/NEJMoa2114897. N Engl J Med. 2022. PMID: 35320643 Free PMC article. Clinical Trial.
Timing of postnatal steroids for bronchopulmonary dysplasia: association with pulmonary and neurodevelopmental outcomes.
Harmon HM, Jensen EA, Tan S, Chaudhary AS, Slaughter JL, Bell EF, Wyckoff MH, Hensman AM, Sokol GM, DeMauro SB; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Harmon HM, et al. J Perinatol. 2020 Apr;40(4):616-627. doi: 10.1038/s41372-020-0594-4. Epub 2020 Feb 4. J Perinatol. 2020. PMID: 32020038 Free PMC article.
Neurodevelopmental outcome of preterm infants enrolled in myo-inositol randomized controlled trial.
Adams-Chapman I, Watterberg KL, Nolen TL, Hirsch S, Cole CA, Cotten CM, Oh W, Poindexter BB, Zaterka-Baxter KM, Das A, Lacy CB, Scorsone AM, Duncan AF, DeMauro SB, Goldstein RF, Colaizy TT, Wilson-Costello DE, Purdy IB, Hintz SR, Heyne RJ, Myers GJ, Fuller J, Merhar S, Harmon HM, Peralta-Carcelen M, Kilbride HW, Maitre NL, Vohr BR, Natarajan G, Mintz-Hittner H, Quinn GE, Wallace DK, Olson RJ, Orge FH, Tsui I, Gaynon M, Hutchinson AK, He YG, Winter TW, Yang MB, Haider KM, Cogen MS, Hug D, Bremer DL, Donahue JP, Lucas WR, Phelps DL, Higgins RD; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Adams-Chapman I, et al. J Perinatol. 2021 Aug;41(8):2072-2087. doi: 10.1038/s41372-021-01018-5. Epub 2021 Mar 23. J Perinatol. 2021. PMID: 33758387 Free PMC article. Clinical Trial.
The relationship of neurodevelopmental impairment to concurrent early childhood outcomes of extremely preterm infants.
Rysavy MA, Colaizy TT, Bann CM, DeMauro SB, Duncan AF, Brumbaugh JE, Peralta-Carcelen M, Harmon HM, Johnson KJ, Hintz SR, Vohr BR, Bell EF; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Rysavy MA, et al. Among authors: brumbaugh je. J Perinatol. 2021 Sep;41(9):2270-2278. doi: 10.1038/s41372-021-00999-7. Epub 2021 Mar 23. J Perinatol. 2021. PMID: 33758389 Free PMC article.
184 results