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Items: 1 to 20 of 180

1.

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
2.

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
3.

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
4.

Clinical implications of duplicated mtDNA in Pearson syndrome.

Muraki K, Sakura N, Ueda H, Kihara H, Goto Y.

Am J Med Genet. 2001 Jan 22;98(3):205-9.

PMID:
11169556
5.

[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
6.

The neurological evolution of Pearson syndrome: case report and literature review.

Lee HF, Lee HJ, Chi CS, Tsai CR, Chang TK, Wang CJ.

Eur J Paediatr Neurol. 2007 Jul;11(4):208-14. Epub 2007 Apr 16.

PMID:
17434771
7.

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
8.

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
9.

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A.

Hum Mol Genet. 1995 Aug;4(8):1327-30.

PMID:
7581370
10.

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
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
12.

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
13.

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.

van den Ouweland JM, de Klerk JB, van de Corput MP, Dirks RW, Raap AK, Scholte HR, Huijmans JG, Hart LM, Bruining GJ, Maassen JA.

Eur J Hum Genet. 2000 Mar;8(3):195-203.

14.

Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome.

de Vries DD, Buzing CJ, Ruitenbeek W, van der Wouw MP, Sperl W, Sengers RC, Trijbels JM, van Oost BA.

Neuromuscul Disord. 1992;2(3):185-95.

PMID:
1483044
15.

Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report.

Park J, Ryu H, Jang W, Chae H, Kim M, Kim Y, Kim J, Lee JW, Chung NG, Cho B, Suh BK.

Mol Med Rep. 2015 May;11(5):3741-5. doi: 10.3892/mmr.2014.3127. Epub 2014 Dec 22.

PMID:
25543536
16.

Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion.

Becher MW, Wills ML, Noll WW, Hurko O, Price DL.

Hum Pathol. 1999 May;30(5):577-81.

PMID:
10333230
17.

Fatal acidosis in a neonate with Pearson syndrome.

Gürakan B, Ozbek N, Varan B, Demirhan B.

Turk J Pediatr. 1999 Jul-Sep;41(3):361-4.

PMID:
10770098
18.

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
19.

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
20.

Pearson's syndrome presenting with Fanconi syndrome.

Gilbert RD, Emms M.

Ultrastruct Pathol. 1996 Sep-Oct;20(5):473-5.

PMID:
8883332

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