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Au-Kline Syndrome.
Au PYB, McNiven V, Phillips L, Innes AM, Kline AD. Au PYB, et al. Among authors: kline ad. 2019 Apr 18 [updated 2024 Feb 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Apr 18 [updated 2024 Feb 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 30998304 Free Books & Documents. Review.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: kline ad. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Pediatric joint hypermobility: a diagnostic framework and narrative review.
Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V. Tofts LJ, et al. Among authors: kline ad. Orphanet J Rare Dis. 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. Orphanet J Rare Dis. 2023. PMID: 37143135 Free PMC article. Review.
Cornelia de Lange syndrome and cancer: An open question.
Pallotta MM, Di Nardo M, Hennekam RCM, Kaiser FJ, Parenti I, Pié J, Ramos FJ, Kline AD, Musio A. Pallotta MM, et al. Among authors: kline ad. Am J Med Genet A. 2023 Jan;191(1):292-295. doi: 10.1002/ajmg.a.62992. Epub 2022 Oct 17. Am J Med Genet A. 2023. PMID: 36253936 Free PMC article. No abstract available.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: kline ad. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.
Oliver C, Groves L, Hansen BD, Salehi M, Kheradmand S, Carrico CS, Caudill P, Mattingly M, Dorsett D, Chea S, Singh VP, Krantz ID, Huisman S, Deardorff MA, Kline AD. Oliver C, et al. Among authors: kline ad. Am J Med Genet A. 2022 Mar;188(3):1005-1014. doi: 10.1002/ajmg.a.62591. Epub 2021 Dec 7. Am J Med Genet A. 2022. PMID: 34877788
High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
Pablo MJ, Pamplona P, Haddad M, Benavente I, Latorre-Pellicer A, Arnedo M, Trujillano L, Bueno-Lozano G, Kerr LM, Huisman SA, Kaiser FJ, Ramos F, Kline AD, Pie J, Puisac B. Pablo MJ, et al. Among authors: kline ad. Orphanet J Rare Dis. 2021 Oct 30;16(1):458. doi: 10.1186/s13023-021-02082-y. Orphanet J Rare Dis. 2021. PMID: 34717699 Free PMC article.
89 results