Pfarr N - Search Results

1

An integrated cellular and molecular model of gastric neuroendocrine cancer evolution highlights therapeutic targets.

Griger J, Widholz SA, Jesinghaus M, de Andrade Krätzig N, Lange S, Engleitner T, Montero JJ, Zhigalova E, Öllinger R, Suresh V, Winkler W, Lier S, Baranov O, Trozzo R, Ben Khaled N, Chakraborty S, Yu J, Konukiewitz B, Steiger K, Pfarr N, Rajput A, Sailer D, Keller G, Schirmacher P, Röcken C, Fagerstedt KW, Mayerle J, Schmidt-Supprian M, Schneider G, Weichert W, Calado DP, Sommermann T, Klöppel G, Rajewsky K, Saur D, Rad R. Griger J, et al. Among authors: pfarr n. Cancer Cell. 2023 Jul 10;41(7):1327-1344.e10. doi: 10.1016/j.ccell.2023.06.001. Epub 2023 Jun 22. Cancer Cell. 2023. PMID: 37352862

2

Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.

Pfarr N, Musholt TJ, Musholt PB, Brzezinska R, Pohlenz J. Pfarr N, et al. Clin Endocrinol (Oxf). 2006 May;64(5):514-8. doi: 10.1111/j.1365-2265.2006.02500.x. Clin Endocrinol (Oxf). 2006. PMID: 16649969 Review.

3

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N, Szamalek-Hoegel J, Fischer C, Hinderhofer K, Nagel C, Ehlken N, Tiede H, Olschewski H, Reichenberger F, Ghofrani AH, Seeger W, Grünig E. Pfarr N, et al. Respir Res. 2011 Jul 29;12(1):99. doi: 10.1186/1465-9921-12-99. Respir Res. 2011. PMID: 21801371 Free PMC article.

4

Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.

Hinderhofer K, Fischer C, Pfarr N, Szamalek-Hoegel J, Lichtblau M, Nagel C, Egenlauf B, Ehlken N, Grünig E. Hinderhofer K, et al. Among authors: pfarr n. PLoS One. 2014 Mar 12;9(3):e91374. doi: 10.1371/journal.pone.0091374. eCollection 2014. PLoS One. 2014. PMID: 24621962 Free PMC article.

5

Linking C5 deficiency to an exonic splicing enhancer mutation.

Pfarr N, Prawitt D, Kirschfink M, Schroff C, Knuf M, Habermehl P, Mannhardt W, Zepp F, Fairbrother WG, Loos M, Burge CB, Pohlenz J. Pfarr N, et al. J Immunol. 2005 Apr 1;174(7):4172-7. doi: 10.4049/jimmunol.174.7.4172. J Immunol. 2005. PMID: 15778377

6

Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.

Richter-Unruh A, Hauffa BP, Pfarr N, Pohlenz J. Richter-Unruh A, et al. Among authors: pfarr n. Thyroid. 2004 Nov;14(11):971-4. doi: 10.1089/thy.2004.14.971. Thyroid. 2004. PMID: 15671778

7

Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

Napiontek U, Borck G, Müller-Forell W, Pfarr N, Bohnert A, Keilmann A, Pohlenz J. Napiontek U, et al. Among authors: pfarr n. J Clin Endocrinol Metab. 2004 Nov;89(11):5347-51. doi: 10.1210/jc.2004-1013. J Clin Endocrinol Metab. 2004. PMID: 15531480

8

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G. Deladoëy J, et al. Among authors: pfarr n. J Clin Endocrinol Metab. 2008 Feb;93(2):627-33. doi: 10.1210/jc.2007-2276. Epub 2007 Nov 20. J Clin Endocrinol Metab. 2008. PMID: 18029453

9

Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).

Fricke-Otto S, Pfarr N, Mühlenberg R, Pohlenz J. Fricke-Otto S, et al. Among authors: pfarr n. Exp Clin Endocrinol Diabetes. 2005 Dec;113(10):582-5. doi: 10.1055/s-2005-865914. Exp Clin Endocrinol Diabetes. 2005. PMID: 16320156

10

Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Stenzinger A, Pfarr N, Endris V, Penzel R, Jansen L, Wolf T, Herpel E, Warth A, Klauschen F, Kloor M, Roth W, Bläker H, Chang-Claude J, Brenner H, Hoffmeister M, Weichert W. Stenzinger A, et al. Among authors: pfarr n. Cancer Med. 2014 Dec;3(6):1527-38. doi: 10.1002/cam4.305. Epub 2014 Aug 1. Cancer Med. 2014. PMID: 25124163 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

111 results

Search Page