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Muenke syndrome: Medical and surgical comorbidities and long-term management.
Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A. Murali CN, et al. Among authors: bartlett sp. Am J Med Genet A. 2019 Aug;179(8):1442-1450. doi: 10.1002/ajmg.a.61199. Epub 2019 May 20. Am J Med Genet A. 2019. PMID: 31111620 Free PMC article.
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. Muenke M, et al. Among authors: bartlett sp. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
Gripp KW, Kasparcova V, McDonald-McGinn DM, Bhatt S, Bartlett SP, Storm AL, Drumheller TC, Emanuel BS, Zackai EH, Stolle CA. Gripp KW, et al. Among authors: bartlett sp. Genet Med. 2001 Mar-Apr;3(2):102-8. doi: 10.1097/00125817-200103000-00003. Genet Med. 2001. PMID: 11280946 Free article.
Tracheal anomalies in Pfeiffer syndrome.
Hockstein NG, McDonald-McGinn D, Zackai E, Bartlett S, Huff DS, Jacobs IN. Hockstein NG, et al. Arch Otolaryngol Head Neck Surg. 2004 Nov;130(11):1298-302. doi: 10.1001/archotol.130.11.1298. Arch Otolaryngol Head Neck Surg. 2004. PMID: 15545585
Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH. McDonald-McGinn DM, et al. Among authors: bartlett sp. Am J Med Genet A. 2005 Aug 1;136A(4):358-62. doi: 10.1002/ajmg.a.30746. Am J Med Genet A. 2005. PMID: 16001439
368 results