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Items: 1 to 20 of 93

1.

Mitochondrial dysfunction and Down's syndrome: is there a role for coenzyme Q(10) ?

Tiano L, Busciglio J.

Biofactors. 2011 Sep-Oct;37(5):386-92. doi: 10.1002/biof.184. Review.

PMID:
22009852
2.

VACTERL/VATER Association.

Solomon BD.

Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Review.

3.

Mitochondrial DNA mutations and depletion in pediatric medicine.

Spinazzola A.

Semin Fetal Neonatal Med. 2011 Aug;16(4):190-6. doi: 10.1016/j.siny.2011.04.011. Epub 2011 Jun 8. Review.

PMID:
21652274
4.

Developmental aspects of respiratory chain from fetus to infancy.

Yanicostas C, Soussi-Yanicostas N, El-Khoury R, Bénit P, Rustin P.

Semin Fetal Neonatal Med. 2011 Aug;16(4):175-80. doi: 10.1016/j.siny.2011.05.005. Epub 2011 Jun 2. Review.

PMID:
21640674
5.

VACTERL association and mitochondrial dysfunction.

Solomon BD, Patel A, Cheung SW, Pineda-Alvarez DE.

Birth Defects Res A Clin Mol Teratol. 2011 Mar;91(3):192-4. doi: 10.1002/bdra.20768. Epub 2011 Feb 9.

6.

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

Wajner M, Goodman SI.

J Bioenerg Biomembr. 2011 Feb;43(1):31-8. doi: 10.1007/s10863-011-9324-0. Review.

PMID:
21249436
7.

An 18-year experience of tracheoesophageal fistula and esophageal atresia.

Seo J, Kim DY, Kim AR, Kim DY, Kim SC, Kim IK, Kim KS, Yoon CH, Pi SY.

Korean J Pediatr. 2010 Jun;53(6):705-10. doi: 10.3345/kjp.2010.53.6.705. Epub 2010 Jun 23.

8.

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.

Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA.

Pediatr Surg Int. 2010 Nov;26(11):1093-9. doi: 10.1007/s00383-010-2688-0.

9.

Analysis of component findings in 79 patients diagnosed with VACTERL association.

Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton AA, Vélez JI, Cummings DA.

Am J Med Genet A. 2010 Sep;152A(9):2236-44. doi: 10.1002/ajmg.a.33572.

10.

Consideration of VACTERL association in patients with trisomy 21.

Solomon BD, Bous SM, Bianconi S, Pineda-Alvarez DE.

Clin Dysmorphol. 2010 Oct;19(4):209-11. doi: 10.1097/MCD.0b013e32833b2b9c. No abstract available.

11.

Evidence for inheritance in patients with VACTERL association.

Solomon BD, Pineda-Alvarez DE, Raam MS, Cummings DA.

Hum Genet. 2010 Jun;127(6):731-3. doi: 10.1007/s00439-010-0814-7. Epub 2010 Apr 6.

12.

Maternal diabetes and oocyte quality.

Wang Q, Moley KH.

Mitochondrion. 2010 Aug;10(5):403-10. doi: 10.1016/j.mito.2010.03.002. Epub 2010 Mar 11. Review.

13.

Hyperglycemia and hypoxia are interrelated in their teratogenic mechanism: studies on cultured rat embryos.

Ornoy A, Rand SB, Bischitz N.

Birth Defects Res B Dev Reprod Toxicol. 2010 Apr;89(2):106-15. doi: 10.1002/bdrb.20230.

PMID:
20127827
14.

Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study.

van Rooij IA, Wijers CH, Rieu PN, Hendriks HS, Brouwers MM, Knoers NV, de Blaauw I, Roeleveld N.

Birth Defects Res A Clin Mol Teratol. 2010 Mar;88(3):152-8. doi: 10.1002/bdra.20649.

PMID:
20073076
15.

Mitochondria and reactive oxygen species.

Kowaltowski AJ, de Souza-Pinto NC, Castilho RF, Vercesi AE.

Free Radic Biol Med. 2009 Aug 15;47(4):333-43. doi: 10.1016/j.freeradbiomed.2009.05.004. Epub 2009 May 8. Review.

PMID:
19427899
16.

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.

de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, Munnich A, de Lonlay P.

Pediatr Res. 2009 Jul;66(1):91-5. doi: 10.1203/PDR.0b013e3181a7c270.

PMID:
19342984
17.

The effects of lead exposure on placental NF-kappaB expression and the consequences for gestation.

Wang YY, Sui KX, Li H, Ma HY.

Reprod Toxicol. 2009 Apr;27(2):190-5. doi: 10.1016/j.reprotox.2008.12.006. Epub 2008 Dec 30.

PMID:
19159675
18.

Mitochondria in early mammalian development.

Van Blerkom J.

Semin Cell Dev Biol. 2009 May;20(3):354-64. doi: 10.1016/j.semcdb.2008.12.005. Epub 2008 Dec 24. Review.

PMID:
19136067
19.

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E.

Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16.

PMID:
19015156
20.

Pathogenic mitochondrial DNA mutations are common in the general population.

Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF.

Am J Hum Genet. 2008 Aug;83(2):254-60. doi: 10.1016/j.ajhg.2008.07.004.

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