Search Results - "Witsch-Baumgartner M"

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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

Authors: Witsch-Baumgartner, M Ciara, E Löffler, J et al.

Source: European Journal of Human Genetics. Jan2001, Vol. 9 Issue 1, p45. 6p.

A validated predictive biomarker for postoperative endoscopic recurrence in Crohn’s disease: intestinal epithelial GPX4.

Authors: Verstockt, S. Schwärzler, J. P. Willeit, P. et al.

Source: Journal of Crohn's & Colitis. 2026 Supplement, Vol. 20, pi1245-i1247. 3p.

Intestinal epithelial glutathione peroxidase 4 expression as a druggable target in Crohn’s disease after ileocolonic resection.

Authors: Schwärzler, J. P. Verstockt, S. Willeit, P. et al.

Source: Journal of Crohn's & Colitis. 2026 Supplement, Vol. 20, pi513-i516. 3p.

Mutational Spectrum in the D7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome.

Authors: Witsch-Baumgartner, M. Fitzky, B.U. Ogorelkova, M. et al.

Source: American Journal of Human Genetics. Feb2000, Vol. 66 Issue 2. 1 Diagram, 5 Charts, 3 Graphs.

DHCR7mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome.

Authors: Ciara, E. Nowaczyk, M. J. M. Witsch-Baumgartner, M. et al.

Source: Clinical Genetics. Dec2004, Vol. 66 Issue 6, p517-524. 8p.

Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC).

Authors: Skvortsov, S Dudás, J Eichberger, P et al.

Source: British Journal of Cancer. 5/20/2014, Vol. 110 Issue 11, p2677-2687. 11p. 2 Charts, 5 Graphs.

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.

Authors: Rudnik-Schöneborn, S Messner, M Vockel, M et al.

Source: Human Reproduction. Mar2021, Vol. 36 Issue 3, p551-559. 9p.

Characterization of large deletions in the DHCR7 gene.

Authors: Lanthaler, B. Hinderhofer, K. Maas, B. et al.

Source: Clinical Genetics. Aug2015, Vol. 88 Issue 2, p149-154. 6p. 2 Charts, 1 Graph.

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

Authors: Kalb, S Caglayan, AO Degerliyurt, A et al.

Source: Clinical Genetics. Jun2012, Vol. 81 Issue 6, p598-601. 4p. 1 Color Photograph, 1 Chart.

VP25.06: Anophthalmia due to a novel mutation in the SOX2 gene.

Authors: Nanda, M. Gellen, J. Csapo, B. et al.

Source: Ultrasound in Obstetrics & Gynecology. Oct2020 Supplement S1, Vol. 56, p163-163. 1p.

A PREDICTIVE AND DRUGGABLE BIOMARKER FOR POSTOPERATIVE RECURRENCE IN CROHN’S DISEASE: INTESTINAL EPITHELIAL GPX4.

Authors: Verstockt, S. Schwärzler, J. Willeit, P. et al.

Source: Acta gastro-enterologica Belgica 2026 Supplement; Vol. 89.

Journal Info: Publisher: Acta Gastro-Enterologica Belgica ISSN: 1784-3227

Identification of a Druggable Target That Predicts Postoperative Crohn's Disease Recurrence.

Authors: Verstockt S Schwärzler J Willeit P et al.

Source: Gastroenterology [Gastroenterology] 2026 Mar 16. Date of Electronic Publication: 2026 Mar 16.

Publication Type: Journal Article

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

Experience on Genetic Testing for Primary Dilated Cardiomyopathy in a Single Austrian Genetic Center and the Role of Myocardial Inflammation.

Authors: Manzanilla Romero HH Steil AS Santner V et al.

Source: Cardiology [Cardiology] 2026 Feb 26, pp. 1-9. Date of Electronic Publication: 2026 Feb 26.

Publication Type: Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 1266406 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9751 (Electronic) Linking ISSN: 00086312 NLM ISO Abbreviation: Cardiology Subsets: MEDLINE

Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.

Authors: Fink FM Höpfl R Witsch-Baumgartner M et al.

Source: Frontiers in immunology [Front Immunol] 2024 Jul 24; Vol. 15, pp. 1430938. Date of Electronic Publication: 2024 Jul 24 (Print Publication: 2024).

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores.

Authors: Schwaninger G Forer L Ebenbichler C et al.

Source: Clinical genetics [Clin Genet] 2023 Sep; Vol. 104 (3), pp. 334-343. Date of Electronic Publication: 2023 Jul 07.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.

Authors: Locher M Jukic E Vogi V et al.

Source: European journal of haematology [Eur J Haematol] 2023 Mar; Vol. 110 (3), pp. 296-304. Date of Electronic Publication: 2022 Dec 04.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Country of Publication: England NLM ID: 8703985 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0609 (Electronic) Linking ISSN: 09024441 NLM ISO Abbreviation: Eur J Haematol Subsets: MEDLINE

Identifying adult hypophosphatasia in the rheumatology unit.

Authors: Feurstein J Behanova M Haschka J et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Dec 14; Vol. 17 (1), pp. 435. Date of Electronic Publication: 2022 Dec 14.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Authors: Nagy D Verheyen S Wigby KM et al.

Source: Genes [Genes (Basel)] 2022 Jan 15; Vol. 13 (1). Date of Electronic Publication: 2022 Jan 15.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia-variant.

Authors: Locher M Jukic E Bohn JP et al.

Source: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2021 Apr; Vol. 60 (4), pp. 287-292. Date of Electronic Publication: 2020 Dec 12.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE