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Results: 1 to 20 of 106

1.

Clinical manifestations and management of four children with Pearson syndrome.

Tumino M, Meli C, Farruggia P, La Spina M, Faraci M, Castana C, Di Raimondo V, Alfano M, Pittalà A, Lo Nigro L, Russo G, Di Cataldo A.

Am J Med Genet A. 2011 Dec;155A(12):3063-6. doi: 10.1002/ajmg.a.34288. Epub 2011 Oct 19.

PMID:
22012855
[PubMed - indexed for MEDLINE]
2.

[Pearson syndrome. Case report].

Cammarata-Scalisi F, López-Gallardo E, Emperador S, Ruiz-Pesini E, Da Silva G, Camacho N, Montoya J.

Invest Clin. 2011 Sep;52(3):261-7. Spanish.

PMID:
21950197
[PubMed - indexed for MEDLINE]
3.

A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions.

Ayed IB, Chamkha I, Mkaouar-Rebai E, Kammoun T, Mezghani N, Chabchoub I, Aloulou H, Hachicha M, Fakhfakh F.

Biochem Biophys Res Commun. 2011 Jul 29;411(2):381-6. doi: 10.1016/j.bbrc.2011.06.154. Epub 2011 Jun 29.

PMID:
21741369
[PubMed - indexed for MEDLINE]
4.

Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE.

Mol Genet Metab. 2012 May;106(1):104-7. doi: 10.1016/j.ymgme.2012.01.018. Epub 2012 Jan 28.

PMID:
22424738
[PubMed - indexed for MEDLINE]
5.

Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA.

Knerr I, Metzler M, Niemeyer CM, Holter W, Gerecke A, Baumann I, Trollmann R, Repp R.

J Pediatr Hematol Oncol. 2003 Dec;25(12):948-51.

PMID:
14663277
[PubMed - indexed for MEDLINE]
6.

Two new cases with Pearson syndrome and review of Hacettepe experience.

Topaloğlu R, Lebre AS, Demirkaya E, Kuşkonmaz B, Coşkun T, Orhan D, Gürgey A, Gümrük F.

Turk J Pediatr. 2008 Nov-Dec;50(6):572-6.

PMID:
19227422
[PubMed - indexed for MEDLINE]
Free Article
7.

[Pearson syndrome].

Goto Y.

Nihon Rinsho. 2002 Apr;60 Suppl 4:270-2. Review. Japanese. No abstract available.

PMID:
12013863
[PubMed - indexed for MEDLINE]
8.

Induced pluripotent stem cells with a mitochondrial DNA deletion.

Cherry AB, Gagne KE, McLoughlin EM, Baccei A, Gorman B, Hartung O, Miller JD, Zhang J, Zon RL, Ince TA, Neufeld EJ, Lerou PH, Fleming MD, Daley GQ, Agarwal S.

Stem Cells. 2013 Jul;31(7):1287-97. doi: 10.1002/stem.1354.

PMID:
23400930
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Pearson syndrome in the neonatal period: two case reports and review of the literature.

Manea EM, Leverger G, Bellmann F, Stanescu PA, Mircea A, Lèbre AS, Rötig A, Munnich A.

J Pediatr Hematol Oncol. 2009 Dec;31(12):947-51. doi: 10.1097/MPH.0b013e3181bbc4ef. Review.

PMID:
19881395
[PubMed - indexed for MEDLINE]
10.

A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?

Binder V, Steenpass L, Laws HJ, Ruebo J, Borkhardt A.

J Pediatr Hematol Oncol. 2012 May;34(4):283-92. doi: 10.1097/MPH.0b013e3182288249. Review.

PMID:
22531495
[PubMed - indexed for MEDLINE]
11.

Pearson's marrow-pancreas syndrome in 2 Turkish children.

Gürgey A, Rötig A, Gümrük F, Cemeroğlu P, Sarialioğlu F, Altay C.

Acta Haematol. 1992;87(4):206-9.

PMID:
1519437
[PubMed - indexed for MEDLINE]
12.

Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion.

Matthes T, Rustin P, Trachsel H, Darbellay R, Costaridou S, Xaidara A, Rideau A, Beris P.

Eur J Haematol. 2006 Aug;77(2):169-74.

PMID:
16856911
[PubMed - indexed for MEDLINE]
13.

[Neonatal Pearson syndrome. two case studies].

Collin-Ducasse H, Maillotte AM, Monpoux F, Boutté P, Ferrero-Vacher C, Paquis V.

Arch Pediatr. 2010 Jan;17(1):38-41. doi: 10.1016/j.arcped.2009.10.006. Epub 2009 Nov 13. French.

PMID:
19914050
[PubMed - indexed for MEDLINE]
14.

Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA.

Smith OP, Hann IM, Woodward CE, Brockington M.

Br J Haematol. 1995 Jun;90(2):469-72.

PMID:
7794775
[PubMed - indexed for MEDLINE]
15.

Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).

Pitchon EM, Cachat F, Jacquemont S, Hinard C, Borruat FX, Schorderet DF, Morris MA, Munier FL.

Klin Monbl Augenheilkd. 2007 Apr;224(4):340-3.

PMID:
17458809
[PubMed - indexed for MEDLINE]
16.

Early neurological impairment and severe anemia in a newborn with Pearson syndrome.

Morel AS, Joris N, Meuli R, Jacquemont S, Ballhausen D, Bonafé L, Fattet S, Tolsa JF.

Eur J Pediatr. 2009 Mar;168(3):311-5. doi: 10.1007/s00431-008-0756-4. Epub 2008 Jun 14.

PMID:
18553104
[PubMed - indexed for MEDLINE]
17.

Severe lactic acidosis and neonatal death in Pearson syndrome.

Muraki K, Goto Y, Nishino I, Hayashidani M, Takeuchi S, Horai S, Sakura N, Ueda K.

J Inherit Metab Dis. 1997 Mar;20(1):43-8.

PMID:
9061566
[PubMed - indexed for MEDLINE]
18.

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome.

Bernes SM, Bacino C, Prezant TR, Pearson MA, Wood TS, Fournier P, Fischel-Ghodsian N.

J Pediatr. 1993 Oct;123(4):598-602.

PMID:
8410517
[PubMed - indexed for MEDLINE]
19.

Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Cormier V, Rötig A, Quartino AR, Forni GL, Cerone R, Maier M, Saudubray JM, Munnich A.

J Pediatr. 1990 Oct;117(4):599-602. No abstract available.

PMID:
2213388
[PubMed - indexed for MEDLINE]
20.

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.

Jacobs LJ, Jongbloed RJ, Wijburg FA, de Klerk JB, Geraedts JP, Nijland JG, Scholte HR, de Coo IF, Smeets HJ.

J Inherit Metab Dis. 2004;27(1):47-55.

PMID:
14970745
[PubMed - indexed for MEDLINE]

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