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Items: 25

1.

Genetic basis of hypertrophic cardiomyopathy in children.

Rupp S, Felimban M, Schänzer A, Schranz D, Marschall C, Zenker M, Logeswaran T, Neuhäuser C, Thul J, Jux C, Hahn A.

Clin Res Cardiol. 2019 Mar;108(3):282-289. doi: 10.1007/s00392-018-1354-8. Epub 2018 Aug 13.

PMID:
30105547
2.

Hematocrit and impact of transfusion in patients receiving extracorporeal life support.

Swol J, Marschall C, Strauch JT, Schildhauer TA.

Perfusion. 2018 Oct;33(7):546-552. doi: 10.1177/0267659118772457. Epub 2018 Apr 23.

PMID:
29683388
3.

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.

Jenewein T, Beckmann BM, Rose S, Osterhues HH, Schmidt U, Wolpert C, Miny P, Marschall C, Alders M, Bezzina CR, Wilde AAM, Kääb S, Kauferstein S.

Forensic Sci Int. 2017 Jun;275:187-194. doi: 10.1016/j.forsciint.2017.02.038. Epub 2017 Mar 20.

PMID:
28391114
4.

Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.

Hoefele J, Mayer K, Marschall C, Alberer M, Klein HG, Kirschstein M.

World J Pediatr. 2016 Nov;12(4):501-503. Epub 2016 Apr 8.

PMID:
27059743
5.

Pharmacological Provocation of Outflow-Tract Tachycardia in a Patient With Brugada Syndrome.

Bürkle G, Schäfer H, Marschall C, Brugada P, Ehrlich JR.

Can J Cardiol. 2016 Dec;32(12):1577.e5-1577.e7. doi: 10.1016/j.cjca.2016.01.026. Epub 2016 Feb 1.

PMID:
27032887
6.

Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.

Schweigmann U, Biliczki P, Ramirez RJ, Marschall C, Takac I, Brandes RP, Kotzot D, Girmatsion Z, Hohnloser SH, Ehrlich JR.

PLoS One. 2014 Aug 20;9(8):e103150. doi: 10.1371/journal.pone.0103150. eCollection 2014.

7.

Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T>C and c.13781A>G, with the clinical presentation of idiopathic ventricular fibrillation.

Paech C, Gebauer RA, Karstedt J, Marschall C, Bollmann A, Husser D.

Pediatr Cardiol. 2014 Dec;35(8):1437-41. doi: 10.1007/s00246-014-0950-2. Epub 2014 Jun 21.

PMID:
24950728
8.

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Reuter MS, Schwabe GC, Ehlers C, Marschall C, Reis A, Thiel C, Graul-Neumann L.

Eur J Med Genet. 2013 Dec;56(12):669-73. doi: 10.1016/j.ejmg.2013.10.002. Epub 2013 Oct 17.

PMID:
24140640
9.

Genotype and laboratory and clinical phenotypes of protein s deficiency.

Duebgen S, Kauke T, Marschall C, Giebl A, Lison S, Hart C, Dick A, Spannagl M.

Am J Clin Pathol. 2012 Feb;137(2):178-84. doi: 10.1309/AJCP40UXNBTXGKUX.

PMID:
22261441
10.

A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome.

Donner BC, Marschall C, Schmidt KG.

Cardiol Young. 2012 Jun;22(3):360-3. doi: 10.1017/S1047951111001831. Epub 2011 Nov 9. Erratum in: Cardiol Young. 2013 Feb;23(1):158. Marshall, Christoph [corrected to Marschall, Christoph].

PMID:
22067087
11.

Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene.

Mentrup B, Marschall C, Barvencik F, Amling M, Plendl H, Jakob F, Beck C.

Bone. 2011 Jun 1;48(6):1401-8. doi: 10.1016/j.bone.2011.03.676. Epub 2011 Mar 16.

PMID:
21419245
12.

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G.

Hum Mutat. 2009 Feb;30(2):181-90. doi: 10.1002/humu.20794.

13.

Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.

Biliczki P, Girmatsion Z, Harenkamp S, Anneken L, Brandes RP, Varro A, Marschall C, Herrera D, Hohnloser SH, Nattel S, Ehrlich JR.

Heart Rhythm. 2008 Aug;5(8):1159-67. doi: 10.1016/j.hrthm.2008.04.016. Epub 2008 Apr 22.

PMID:
18675227
14.

[Brugada syndrome, a rare cause of syncope].

Auerbach H, Blank R, Jank K, Grönefeld G, Klingenheben T, Marschall C, von Mengden HJ.

Med Klin (Munich). 2005 Jun 15;100(6):361-4. German.

PMID:
15968489
15.

Triple helix-mediated inhibition of gene expression is increased by PUVA.

Besch R, Marschall C, Schuh T, Giovannangeli C, Kammerbauer C, Degitz K.

J Invest Dermatol. 2004 May;122(5):1114-20.

16.

[Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1].

Siegert T, Klein HG, Marschall C, Schmidt H.

Klin Padiatr. 2004 Mar-Apr;216(2):91-3. German.

PMID:
15106082
17.

Painful soft-tissue reaction to injectable Norian SRS calcium phosphate cement after curettage of enchondromas.

Welkerling H, Raith J, Kastner N, Marschall C, Windhager R.

J Bone Joint Surg Br. 2003 Mar;85(2):238-9.

PMID:
12678359
18.

[Cortical strut grafts, an alternative to conventional plating in periprosthetic fractures of the femur].

Aigner C, Marschall C, Reischl N, Windhager R.

Z Orthop Ihre Grenzgeb. 2002 May-Jun;140(3):328-33. German.

PMID:
12085300
19.

UVB increases urokinase-type plasminogen activator receptor (uPAR) expression.

Marschall C, Lengyel E, Nobutoh T, Braungart E, Douwes K, Simon A, Magdolen V, Reuning U, Degitz K.

J Invest Dermatol. 1999 Jul;113(1):69-76.

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Hypothalamic monoamines in lizards (Lacerta). A histofluorescence study.

Marschall C.

Cell Tissue Res. 1980;205(1):95-105.

PMID:
7363309
25.

Glycolytic and lipolytic effects of ovine FSH and estradiol-17 in the lizard Anolis carolinensis.

Marschall C, Gist DH.

Gen Comp Endocrinol. 1973 Apr;20(2):407-12. No abstract available.

PMID:
4699374

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