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Items: 16

1.

Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behavioural Questionnaire.

Hou W, Bhattacharya U, Pradana WA, Tarquinio DC.

Pediatr Neurol. 2020 Feb 4. pii: S0887-8994(20)30035-7. doi: 10.1016/j.pediatrneurol.2020.01.009. [Epub ahead of print]

PMID:
32165033
2.

The course of awake breathing disturbances across the lifespan in Rett syndrome.

Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK.

Brain Dev. 2018 Aug;40(7):515-529. doi: 10.1016/j.braindev.2018.03.010. Epub 2018 Apr 12.

3.

Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.

O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Poon C, Mayor Torres JM, Nelson CA 3rd, Sahin M.

Ann Clin Transl Neurol. 2018 Jan 31;5(3):323-332. doi: 10.1002/acn3.533. eCollection 2018 Mar. Erratum in: Ann Clin Transl Neurol. 2018 Jul 13;5(7):895. Poon C [added].

4.

Longitudinal course of epilepsy in Rett syndrome and related disorders.

Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG.

Brain. 2017 Feb;140(2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.

5.

Rett Syndrome: Crossing the Threshold to Clinical Translation.

Katz DM, Bird A, Coenraads M, Gray SJ, Menon DU, Philpot BD, Tarquinio DC.

Trends Neurosci. 2016 Feb;39(2):100-113. doi: 10.1016/j.tins.2015.12.008. Review.

6.

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK.

Pediatr Neurol. 2015 Nov;53(5):402-11. doi: 10.1016/j.pediatrneurol.2015.06.003. Epub 2015 Jun 26.

7.

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.

Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK.

Pediatr Neurol. 2015 Jun;52(6):585-91.e2. doi: 10.1016/j.pediatrneurol.2015.02.007. Epub 2015 Feb 16.

8.

Pubertal development in Rett syndrome deviates from typical females.

Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK.

Pediatr Neurol. 2014 Dec;51(6):769-75. doi: 10.1016/j.pediatrneurol.2014.08.013. Epub 2014 Aug 29.

9.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.

J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

10.

Leprosy reactions: coinfections as a possible risk factor.

Motta AC, Pereira KJ, Tarquínio DC, Vieira MB, Miyake K, Foss NT.

Clinics (Sao Paulo). 2012 Oct;67(10):1145-8.

11.

Growth failure and outcome in Rett syndrome: specific growth references.

Tarquinio DC, Motil KJ, Hou W, Lee HS, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK.

Neurology. 2012 Oct 16;79(16):1653-61. doi: 10.1212/WNL.0b013e31826e9a70. Epub 2012 Oct 3.

12.

Growth charts for 22q11 deletion syndrome.

Tarquinio DC, Jones MC, Jones KL, Bird LM.

Am J Med Genet A. 2012 Nov;158A(11):2672-81. doi: 10.1002/ajmg.a.35485. Epub 2012 Aug 6.

PMID:
22887711
13.

Early detection of leprosy by examination of household contacts, determination of serum anti-PGL-1 antibodies and consanguinity.

Bazan-Furini R, Motta AC, Simão JC, Tarquínio DC, Marques W Jr, Barbosa MH, Foss NT.

Mem Inst Oswaldo Cruz. 2011 Aug;106(5):536-40.

14.

Postnatal-onset microcephaly: pathogenesis, patterns of growth, and prediction of outcome.

Rosman NP, Tarquinio DC, Datseris M, Hou W, Mannheim GB, Emigh CE, Rivkin MJ.

Pediatrics. 2011 Apr;127(4):665-71. doi: 10.1542/peds.2010-1576. Epub 2011 Mar 21.

PMID:
21422087
15.

[Tzanck smears: an old but useful diagnostic tool].

Brito MM, Tarquínio DC, Arruda D, Costa RS, Roselino AM.

An Bras Dermatol. 2009 Jul-Aug;84(4):431-3. Portuguese.

PMID:
19851680
16.

[Pulmonary schistosoma nodule simulating neoplasia: case report].

Fatureto MC, Correia D, Silva MB, Barra MF, da Silva AV, Tarquinio DC, Pacheco KD, Lima MA.

Rev Soc Bras Med Trop. 2003 Nov-Dec;36(6):735-7. Portuguese.

PMID:
15049115

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