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Page 1
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Fischer-Zirnsak B, et al. Among authors: choudhri af. Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320891 Free PMC article.
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM. Barrie ES, et al. Among authors: choudhri af. Am J Med Genet A. 2020 May;182(5):1201-1208. doi: 10.1002/ajmg.a.61512. Epub 2020 Feb 25. Am J Med Genet A. 2020. PMID: 32100459
Premature pubarche in children with Pompe disease.
Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS. Tan QK, et al. Among authors: choudhri af. J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14. J Pediatr. 2015. PMID: 25687635 Free PMC article.
Cortical Activation Through Passive-Motion Functional MRI.
Choudhri AF, Patel RM, Siddiqui A, Whitehead MT, Wheless JW. Choudhri AF, et al. AJNR Am J Neuroradiol. 2015 Sep;36(9):1675-81. doi: 10.3174/ajnr.A4345. Epub 2015 Jul 30. AJNR Am J Neuroradiol. 2015. PMID: 26228890 Free PMC article.
3T intraoperative MRI for management of pediatric CNS neoplasms.
Choudhri AF, Klimo P Jr, Auschwitz TS, Whitehead MT, Boop FA. Choudhri AF, et al. AJNR Am J Neuroradiol. 2014 Dec;35(12):2382-7. doi: 10.3174/ajnr.A4040. Epub 2014 Jul 24. AJNR Am J Neuroradiol. 2014. PMID: 25059696 Free PMC article.
130 results