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Items: 1 to 20 of 108

1.

X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.

Sullivan CT, Christian SL, Shieh JT, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH.

Mol Syndromol. 2013 Mar;4(3):114-8. doi: 10.1159/000343489. Epub 2012 Nov 16.

2.

Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review.

Bronzetti G, Giardini A, Patrizi A, Prandstraller D, Donti A, Formigari R, Bonvicini M, Picchio FM.

Pediatrics. 2004 Feb;113(2):412-5. Review.

PMID:
14754961
3.

Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature.

Siegel DH, Tefft KA, Kelly T, Johnson C, Metry D, Burrows P, Pope E, Cordisco M, Holland KE, Maheshwari M, Keith P, Garzon M, Hess C, Frieden IJ, Fullerton HJ, Drolet BA.

Stroke. 2012 Jun;43(6):1672-4. doi: 10.1161/STROKEAHA.112.650952. Epub 2012 Mar 22. Review.

4.

[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].

Jiang SL, Bao XH, Song FY, Pan H, Li MR, Wu XR.

Zhonghua Er Ke Za Zhi. 2006 Sep;44(9):648-52. Chinese.

PMID:
17217653
5.

PHACE syndrome: new views on diagnostic criteria.

Poetke M, Frommeld T, Berlien HP.

Eur J Pediatr Surg. 2002 Dec;12(6):366-74. Review.

PMID:
12548487
6.

A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications.

Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, Horii K, Lucky A, Mancini AJ, Newell B, Nopper A, Heyer G, Frieden IJ.

Am J Med Genet A. 2006 May 1;140(9):975-86.

PMID:
16575892
7.

Non-random X chromosome inactivation in Aicardi syndrome.

Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB.

Hum Genet. 2009 Mar;125(2):211-6. doi: 10.1007/s00439-008-0615-4. Epub 2009 Jan 1.

8.

Evaluation of maternal history of miscarriage, infertility, and in-vitro fertilization use as associated factors in PHACE.

Kim ME, Cancel M, Metry D, Strawn EY, Drolet BA, Chiu YE, Siegel DH.

Br J Dermatol. 2017 Jan 27. doi: 10.1111/bjd.15341. [Epub ahead of print]

PMID:
28129673
9.

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.

Knudsen GP, Neilson TC, Pedersen J, Kerr A, Schwartz M, Hulten M, Bailey ME, Orstavik KH.

Eur J Hum Genet. 2006 Nov;14(11):1189-94. Epub 2006 Jul 5.

11.

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

Villard L, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontès M.

J Med Genet. 2001 Jul;38(7):435-42.

12.

Risk of dysphagia and speech and language delay in PHACE syndrome.

Martin KL, Arvedson JC, Bayer ML, Drolet BA, Chun R, Siegel DH.

Pediatr Dermatol. 2015 Jan-Feb;32(1):64-9. doi: 10.1111/pde.12447. Epub 2014 Dec 2.

PMID:
25440893
13.

Copy number variation analysis in 98 individuals with PHACE syndrome.

Siegel DH, Shieh JT, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U.

J Invest Dermatol. 2013 Mar;133(3):677-84. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25.

14.

A comparison of disease severity among affected male versus female patients with PHACE syndrome.

Metry DW, Siegel DH, Cordisco MR, Pope E, Prendiville J, Drolet BA, Horii KA, Stein SL, Frieden IJ.

J Am Acad Dermatol. 2008 Jan;58(1):81-7. Epub 2007 Oct 29.

PMID:
18029054
15.

PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction.

Poindexter G, Metry DW, Barkovich AJ, Frieden IJ.

Pediatr Neurol. 2007 Jun;36(6):402-6.

PMID:
17560503
16.

PHACE(S) syndrome: Report of a case with new ocular and systemic manifestations.

Assari R, Ziaee V, Moghimi S, Akbari MR, Mirmohammadsadeghi A.

J Curr Ophthalmol. 2016 Dec 27;29(2):136-138. doi: 10.1016/j.joco.2016.10.005. eCollection 2017 Jun.

17.

PHACE(S) syndrome.

Heyer GL.

Handb Clin Neurol. 2015;132:169-83. doi: 10.1016/B978-0-444-62702-5.00012-3. Review.

PMID:
26564079
18.

Potential complications of segmental hemangiomas of infancy.

Metry DW.

Semin Cutan Med Surg. 2004 Jun;23(2):107-15. Review.

PMID:
15295920
19.

Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry).

Bayer ML, Frommelt PC, Blei F, Breur JM, Cordisco MR, Frieden IJ, Goddard DS, Holland KE, Krol AL, Maheshwari M, Metry DW, Morel KD, North PE, Pope E, Shieh JT, Southern JF, Wargon O, Siegel DH, Drolet BA.

Am J Cardiol. 2013 Dec 15;112(12):1948-52. doi: 10.1016/j.amjcard.2013.08.025. Epub 2013 Sep 28.

20.

Infantile midline facial hemangioma with agenesis of the corpus callosum and sinus pericranii: another face of the PHACE syndrome.

Drosou A, Benjamin L, Linfante I, Mallin K, Trowers A, Wakhloo AK, Thaller SR, Schachner LA.

J Am Acad Dermatol. 2006 Feb;54(2):348-52.

PMID:
16443074

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