Stuhrmann M - Search Results

1

Evaluation of the role of CFTR in alcohol related pancreatic disease.

Ockenga J, Stuhrmann M, Manns MP. Ockenga J, et al. Among authors: stuhrmann m. Gut. 2001 Aug;49(2):312-3. doi: 10.1136/gut.49.2.312a. Gut. 2001. PMID: 11476081 Free PMC article. No abstract available.

2

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis.

Ockenga J, Stuhrmann M, Ballmann M, Teich N, Keim V, Dörk T, Manns MP. Ockenga J, et al. Among authors: stuhrmann m. Am J Gastroenterol. 2000 Aug;95(8):2061-7. doi: 10.1111/j.1572-0241.2000.02228.x. Am J Gastroenterol. 2000. PMID: 10950058

3

Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis.

Ockenga J, Dörk T, Stuhrmann M. Ockenga J, et al. Among authors: stuhrmann m. J Med Genet. 2001 Apr;38(4):243-4. doi: 10.1136/jmg.38.4.243. J Med Genet. 2001. PMID: 11368029 Free PMC article. No abstract available.

4

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

Ebhardt M, Schmidt H, Doerk T, Tietge U, Haas R, Manns MP, Schmidtke J, Stuhrmann M. Ebhardt M, et al. Among authors: stuhrmann m. Hum Mutat. 1999;13(3):257. doi: 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A. Hum Mutat. 1999. PMID: 10090484

5

Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient.

Gutierrez G, Schneider A, Jobs J, Schmidt H, Korte A, Manns MP, Stuhrmann M. Gutierrez G, et al. Among authors: stuhrmann m. Hum Mutat. 2000 Oct;16(4):374. doi: 10.1002/1098-1004(200010)16:4<374::AID-HUMU16>3.0.CO;2-1. Hum Mutat. 2000. PMID: 11013454 No abstract available.

6

Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia.

Schmidt HH, Stuhrmann M, Shamburek R, Schewe CK, Ebhardt M, Zech LA, Büttner C, Wendt M, Beisiegel U, Brewer HB Jr, Manns MP. Schmidt HH, et al. Among authors: stuhrmann m. J Clin Endocrinol Metab. 1998 Jun;83(6):2167-74. doi: 10.1210/jcem.83.6.4840. J Clin Endocrinol Metab. 1998. PMID: 9626156

7

Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

Kuehl HK, Caselitz M, Hasenkamp S, Wagner S, El-Harith el-HA, Manns MP, Stuhrmann M. Kuehl HK, et al. Among authors: stuhrmann m. Hum Mutat. 2005 Mar;25(3):320. doi: 10.1002/humu.9311. Hum Mutat. 2005. PMID: 15712270

8

Recommendations for the classification of diseases as CFTR-related disorders.

Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C. Bombieri C, et al. Among authors: stuhrmann m. J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3. J Cyst Fibros. 2011. PMID: 21658649 Free article.

9

CFTR gene mutations in sarcoidosis.

Schürmann M, Albrecht M, Schwinger E, Stuhrmann M. Schürmann M, et al. Among authors: stuhrmann m. Eur J Hum Genet. 2002 Nov;10(11):729-32. doi: 10.1038/sj.ejhg.5200868. Eur J Hum Genet. 2002. PMID: 12404105

10

CFTR gene mutations and male infertility.

Stuhrmann M, Dörk T. Stuhrmann M, et al. Andrologia. 2000 Mar;32(2):71-83. doi: 10.1046/j.1439-0272.2000.00327.x. Andrologia. 2000. PMID: 10755189 Review.

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