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Items: 1 to 20 of 126

1.

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
2.

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S.

J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29.

3.

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
4.

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Sato T, Muroya K, Hanakawa J, Iwano R, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M.

Eur J Pediatr. 2015 Dec;174(12):1593-602. doi: 10.1007/s00431-015-2576-7. Epub 2015 Jun 16. Review.

PMID:
26074369
5.

[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
6.

Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.

O'Grady MJ, Monavari AA, Cotter M, Murphy NP.

BMJ Case Rep. 2015 Feb 26;2015. pii: bcr2014208514. doi: 10.1136/bcr-2014-208514.

7.

Corneal endothelial dysfunction in Pearson syndrome.

Kasbekar SA, Gonzalez-Martin JA, Shafiq AE, Chandna A, Willoughby CE.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):55-7. doi: 10.3109/13816810.2011.610862. Epub 2011 Sep 21.

PMID:
21936618
8.

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S.

Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15.

9.

Pearson syndrome in a Diamond-Blackfan anemia cohort.

Alter BP.

Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687.

10.

[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
11.

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
12.

Mitochondrial DNA with a large-scale deletion causes two distinct mitochondrial disease phenotypes in mice.

Katada S, Mito T, Ogasawara E, Hayashi J, Nakada K.

G3 (Bethesda). 2013 Sep 4;3(9):1545-52. doi: 10.1534/g3.113.007245.

13.

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.

14.

Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively.

Nicolino M, Ferlin T, Forest M, Godinot C, Carrier H, David M, Chatelain P, Mousson B.

J Clin Endocrinol Metab. 1997 Sep;82(9):3063-7.

PMID:
9284744
15.

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
16.

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
17.

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
18.

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

McShane MA, Hammans SR, Sweeney M, Holt IJ, Beattie TJ, Brett EM, Harding AE.

Am J Hum Genet. 1991 Jan;48(1):39-42.

19.

Biochemical abnormalities in Pearson syndrome.

Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N.

Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939.

PMID:
25691415
20.

mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome.

Arzanian MT, Eghbali A, Karimzade P, Ahmadi M, Houshmand M, Rezaei N.

Iran J Pediatr. 2010 Mar;20(1):107-12.

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