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Results: 1 to 20 of 90

Similar articles for PubMed (Select 17161635)

1.

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

Meulemans A, Seneca S, Smet J, De Paepe B, Lissens W, Van Coster R, Debeer A, De Meirleir L, Jaeken J.

Eur J Paediatr Neurol. 2007 Jan;11(1):17-20. Epub 2006 Dec 11.

PMID:
17161635
2.

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN.

PLoS One. 2013 Sep 26;8(9):e75770. doi: 10.1371/journal.pone.0075770. eCollection 2013.

3.

Benign reversible course in infants manifesting clinicopathological features of fatal mitochondrial myopathy due to m.14674 T>C mt-tRNAGlu mutation.

Chen TH, Tu YF, Goto YI, Jong YJ.

QJM. 2013 Oct;106(10):953-4. doi: 10.1093/qjmed/hct151. Epub 2013 Jul 10. No abstract available.

4.

To shrink or not to shrink.

Mohandas N.

Blood. 2013 May 9;121(19):3783-4. doi: 10.1182/blood-2013-04-491753. No abstract available.

5.

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.

Lee BH, Kim YM, Kim JH, Kim GH, Lee BS, Kim CJ, Yoo HJ, Yoo HW.

Brain Dev. 2014 Feb;36(2):171-5. doi: 10.1016/j.braindev.2013.01.012. Epub 2013 Feb 19.

PMID:
23433491
6.

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He L, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2013 Feb;72(2):164-75. doi: 10.1097/NEN.0b013e31828129c5.

PMID:
23334599
7.

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.

Connell FC, Kalidas K, Ostergaard P, Brice G, Murday V, Mortimer PS, Jeffrey I, Jeffery S, Mansour S.

Clin Genet. 2012 Feb;81(2):191-7. doi: 10.1111/j.1399-0004.2011.01731.x. No abstract available.

PMID:
22239599
8.

Hemophagocytic lymphohistiocytosis with Munc13-4 mutation: a cause of recurrent fatal hydrops fetalis.

Bechara E, Dijoud F, de Saint Basile G, Bertrand Y, Pondarré C.

Pediatrics. 2011 Jul;128(1):e251-4. doi: 10.1542/peds.2010-0764. Epub 2011 Jun 6.

9.

CDAII presenting as hydrops foetalis: molecular characterization of two cases.

Fermo E, Bianchi P, Notarangelo LD, Binda S, Vercellati C, Marcello AP, Boschetti C, Barcellini W, Zanella A.

Blood Cells Mol Dis. 2010 Jun 15;45(1):20-2. doi: 10.1016/j.bcmd.2010.03.005. Epub 2010 Apr 9.

PMID:
20381388
10.

The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes.

Mezghani N, Mkaouar-Rebai E, Mnif M, Charfi N, Rekik N, Youssef S, Abid M, Fakhfakh F.

J Diabetes Complications. 2010 Jul-Aug;24(4):270-7. doi: 10.1016/j.jdiacomp.2009.11.002. Epub 2010 Jan 4.

PMID:
20045353
11.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
12.

Consequences of mutations within the C terminus of the FHL1 gene.

Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

PMID:
19687455
13.

Outcome and treatment in an antenatally diagnosed congenital cystic adenomatoid malformation of the lung.

Nagata K, Masumoto K, Tesiba R, Esumi G, Tsukimori K, Norio W, Taguchi T.

Pediatr Surg Int. 2009 Sep;25(9):753-7. doi: 10.1007/s00383-009-2431-x.

PMID:
19662430
14.

Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis.

Vermeulen MJ, de Haas V, Mulder MF, Flohil C, Fetter WP, van de Kamp JM.

Eur J Med Genet. 2009 Nov-Dec;52(6):417-20. doi: 10.1016/j.ejmg.2009.07.002. Epub 2009 Jul 10.

PMID:
19595804
15.

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A, Holme E.

Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30.

16.

Accurate prenatal diagnosis of Hb Bart's hydrops fetalis in daily practice with a double-check PCR system.

Karnpean R, Fucharoen G, Fucharoen S, Sae-ung N, Sanchaisuriya K, Ratanasiri T.

Acta Haematol. 2009;121(4):227-33. doi: 10.1159/000225930. Epub 2009 Jun 19.

PMID:
19546525
17.

Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1.

Reitter A, Fischer D, Buxmann H, Nitschke Y, Rutsch F, Mottok A, Hansmann ML, Harms E, Louwen F, Schlosser R.

Fetal Diagn Ther. 2009;25(2):264-8. doi: 10.1159/000223683. Epub 2009 Jun 10.

PMID:
19521093
18.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R.

BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4.

19.

Incidence, causes and pregnancy outcomes of hydrops fetalis at Srinagarind Hospital, 1996-2005: a 10-year review.

Ratanasiri T, Komwilaisak R, Sittivech A, Kleebkeaw P, Seejorn K.

J Med Assoc Thai. 2009 May;92(5):594-9.

PMID:
19459517
20.

Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.

Ghalamkarpour A, Debauche C, Haan E, Van Regemorter N, Sznajer Y, Thomas D, Revencu N, Gillerot Y, Boon LM, Vikkula M.

J Pediatr. 2009 Jul;155(1):90-3. doi: 10.1016/j.jpeds.2009.02.023. Epub 2009 Apr 25.

PMID:
19394045
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