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What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. Campbell IM, et al. Among authors: mascarenhas mr. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637. Am J Med Genet A. 2018. PMID: 30380191 Free PMC article.
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium. Bassett AS, et al. J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. J Pediatr. 2011. PMID: 21570089 Free PMC article. No abstract available.
Standardized Feeding Approach Mitigates Weight Loss in Infants with Congenital Heart Disease.
Lisanti AJ, Savoca M, Gaynor JW, Mascarenhas MR, Ravishankar C, Sullivan E, Pieciak K, Costarino A, Chen J, Kennedy A, Olsen R, Min J, Mondal A, Huang J, Irving SY. Lisanti AJ, et al. Among authors: mascarenhas mr. J Pediatr. 2021 Apr;231:124-130.e1. doi: 10.1016/j.jpeds.2020.12.047. Epub 2020 Dec 23. J Pediatr. 2021. PMID: 33359473 Free PMC article.
Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.
Kotcher RE, Chait DB, Heckert JM, Crowley TB, Forde KA, Ahuja NK, Mascarenhas MR, Emanuel BS, Zackai EH, McDonald-McGinn DM, Reynolds JC. Kotcher RE, et al. Among authors: mascarenhas mr. J Pediatr Gastroenterol Nutr. 2022 Aug 1;75(2):e8-e14. doi: 10.1097/MPG.0000000000003491. Epub 2022 Jun 1. J Pediatr Gastroenterol Nutr. 2022. PMID: 35641891 Free PMC article.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS. Boot E, et al. Among authors: mascarenhas mr. Genet Med. 2023 Mar;25(3):100344. doi: 10.1016/j.gim.2022.11.012. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729052 Free article.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Among authors: mascarenhas mr. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
105 results