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165 results

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Page 1
Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.
Dahan-Oliel N, van Bosse H, Darsaklis VB, Rauch F, Bedard T, Bardai G, James M, Raney E, Freese K, Hyer L, Altiok H, Pellett J, Giampietro P, Hall J, Hamdy RC. Dahan-Oliel N, et al. Among authors: giampietro p. BMJ Open. 2022 Oct 28;12(10):e060591. doi: 10.1136/bmjopen-2021-060591. BMJ Open. 2022. PMID: 36307157 Free PMC article.
Health-related quality of life in 205 children with arthrogryposis multiplex congenita.
Nematollahi S, Rampakakis E, Amara M, Hamdy RC, Rauch F, Hyer LC, James MA, Altiok H, Raney E, Pellett J, Mielke C, Nossov SB, Tavukcu S, Giampietro PF, Dahan-Oliel N. Nematollahi S, et al. Among authors: giampietro pf. Qual Life Res. 2024 Oct 22. doi: 10.1007/s11136-024-03808-8. Online ahead of print. Qual Life Res. 2024. PMID: 39436578
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: giampietro pf. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *. Asokan KL, et al. J Am Heart Assoc. 2024 Nov 5;13(21):e036274. doi: 10.1161/JAHA.124.036274. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424426 Free article.
Group A Streptococcus infections in children and adolescents in the post-COVID-19 era: a regional Italian survey.
Cinicola BL, Sani I, Pulvirenti F, Capponi M, Leone F, Spalice A, Montalbano A, Macari A, Fonte MT, Giampietro PG, Buonsenso D, Zicari AM, Rongai T; Italian Pediatrician Federation (FIMP), Lazio Region. Cinicola BL, et al. Among authors: giampietro pg. Ital J Pediatr. 2024 Sep 16;50(1):177. doi: 10.1186/s13052-024-01750-6. Ital J Pediatr. 2024. PMID: 39285296 Free PMC article.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. Rebello D, et al. Among authors: giampietro pf. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524 Free PMC article.
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Alankarage D, Enriquez A, Steiner RD, Raggio C, Higgins M, Milnes D, Humphreys DT, Duncan EL, Sparrow DB, Giampietro PF, Chapman G, Dunwoodie SL. Alankarage D, et al. Among authors: giampietro pf. Differentiation. 2022 Nov-Dec;128:1-12. doi: 10.1016/j.diff.2022.09.002. Epub 2022 Sep 24. Differentiation. 2022. PMID: 36194927 Free PMC article.
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N. Li G, et al. Among authors: giampietro pf. Am J Med Genet A. 2022 Dec;188(12):3469-3481. doi: 10.1002/ajmg.a.62972. Epub 2022 Sep 26. Am J Med Genet A. 2022. PMID: 36161696 Free PMC article.
165 results