Baumgartner D - Search Results

1

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.

Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, Andrae D, Sproß J, Vaz FM, Kircher SG, Posch-Pertl L, Baumgartner D, Lübke T, Shah H, Al Kaissi A, Girisha KM, Plecko B. Verheyen S, et al. Among authors: baumgartner d. J Med Genet. 2022 Oct;59(10):957-964. doi: 10.1136/jmedgenet-2021-108061. Epub 2021 Dec 16. J Med Genet. 2022. PMID: 34916232 Free PMC article.

2

Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature.

Baumgartner D, Gassner I, Sperl W, Salzer-Kuntschik M, Judmaier W, Steinmann B. Baumgartner D, et al. Am J Med Genet. 2001 Mar 15;99(3):238-43. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1154>3.0.co;2-0. Am J Med Genet. 2001. PMID: 11241496 Review.

3

Dural ectasia in children with Marfan syndrome: a prospective, multicenter, patient-control study.

Knirsch W, Kurtz C, Häffner N, Binz G, Heim P, Winkler P, Baumgartner D, Freund-Unsinn K, Stern H, Kaemmerer H, Molinari L, Kececioglu D, Uhlemann F. Knirsch W, et al. Among authors: baumgartner d. Am J Med Genet A. 2006 Apr 1;140(7):775-81. doi: 10.1002/ajmg.a.31158. Am J Med Genet A. 2006. PMID: 16523504

4

Diagnostic power of aortic elastic properties in young patients with Marfan syndrome.

Baumgartner D, Baumgartner C, Mátyás G, Steinmann B, Löffler-Ragg J, Schermer E, Schweigmann U, Baldissera I, Frischhut B, Hess J, Hammerer I. Baumgartner D, et al. Among authors: baumgartner c. J Thorac Cardiovasc Surg. 2005 Apr;129(4):730-9. doi: 10.1016/j.jtcvs.2004.07.019. J Thorac Cardiovasc Surg. 2005. PMID: 15821637 Free article.

5

A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations.

Baumgartner C, Mátyás G, Steinmann B, Eberle M, Stein JI, Baumgartner D. Baumgartner C, et al. Among authors: baumgartner d. J Biomed Inform. 2006 Apr;39(2):171-83. doi: 10.1016/j.jbi.2005.06.001. Epub 2005 Jul 14. J Biomed Inform. 2006. PMID: 16061422 Free article.

6

Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.

Baumgartner C, Mátyás G, Steinmann B, Baumgartner D. Baumgartner C, et al. Among authors: baumgartner d. Methods Inf Med. 2005;44(4):487-97. Methods Inf Med. 2005. PMID: 16342915

7

Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study.

Baumgartner D, Baumgartner C, Schermer E, Engl G, Schweigmann U, Mátyás G, Steinmann B, Stein JI. Baumgartner D, et al. Among authors: baumgartner c. J Thorac Cardiovasc Surg. 2006 Oct;132(4):811-9. doi: 10.1016/j.jtcvs.2006.07.001. J Thorac Cardiovasc Surg. 2006. PMID: 17000292 Free article.

8

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.

Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D. Baumgartner D, et al. J Pediatr. 2007 Feb;150(2):192-7, 197.e1. doi: 10.1016/j.jpeds.2006.11.043. J Pediatr. 2007. PMID: 17236900

9

Reduced aortic elastic properties in a child with Takayasu arteritis: case report and literature review.

Baumgartner D, Sailer-Höck M, Baumgartner C, Trieb T, Maurer H, Schirmer M, Zimmerhackl LB, Stein JI. Baumgartner D, et al. Among authors: baumgartner c. Eur J Pediatr. 2005 Nov;164(11):685-90. doi: 10.1007/s00431-005-1731-y. Epub 2005 Jul 26. Eur J Pediatr. 2005. PMID: 16044277 Review.

10

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B. Mátyás G, et al. Among authors: baumgartner d. Hum Mutat. 2006 Aug;27(8):760-9. doi: 10.1002/humu.20353. Hum Mutat. 2006. PMID: 16791849

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