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

Por OCKENGA, J., DORK, T., STUHRMANN, M.
Publicado em 2001

Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland

Por HUGHES, D., DORK, T., STUHRMANN, M., GRAHAM, C.
Publicado em 2001

BRCA1 expression is not affected by the intronic 12 bp duplication

Por DORK, T., SKAWRAN, B., STUHRMANN, M., BREMER, M., KARSTENS, J.
Publicado em 1999

A cystic fibrosis patient homozygous for the nonsense mutation R553X.

Por Bal, J, Stuhrmann, M, Schloesser, M, Schmidtke, J, Reiss, J
Publicado em 1991

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Por Will, K, Dörk, T, Stuhrmann, M, Meitinger, T, Bertele-Harms, R, Tümmler, B, Schmidtke, J
Publicado em 1994

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

Por Will, K, Reiss, J, Dean, M, Schlösser, M, Slomski, R, Schmidtke, J, Stuhrmann, M
Publicado em 1993

Identification and clinical presentation of β thalassaemia mutations in the eastern region of Saudi Arabia

Por EL-HARITH, E., KUHNAU, W., SCHMIDTKE, J., STUHRMANN, M., NASSERALLAH, Z., AL-SHAHRI, A.
Publicado em 1999

Evaluation of the role of CFTR in alcohol related pancreatic disease

Por OCKENGA, J, STUHRMANN, M, MANNS, M, ESTIVILL, X, CASALS, T, MALATS, N, PORTA, M, GUARNER, L, REAL, F
Publicado em 2001

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

Por el-Harith, E A, Dörk, T, Stuhrmann, M, Abu-Srair, H, al-Shahri, A, Keller, K M, Lentze, M J, Schmidtke, J
Publicado em 1997

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

Por Langen, H., von Kietzell, D., Byrd, D., Arslan-Kirchner, M., Vester, U., Stuhrmann, M., Dörk, T., Saar, K., Reis, A., Schmidtke, J., Brodehl, J.
Publicado no Pediatr Nephrol (2000)

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.

Por Dörk, T, El-Harith, E H, Stuhrmann, M, Macek, M, Egan, M, Cutting, G R, Tzetis, M, Kanavakis, E, Carles, S, Claustres, M, Padoa, C, Ramsay, M, Schmidtke, J
Publicado em 1998

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.

Por Varret, M, Rabés, J P, Thiart, R, Kotze, M J, Baron, H, Cenarro, A, Descamps, O, Ebhardt, M, Hondelijn, J C, Kostner, G M, Miyake, Y, Pocovi, M, Schmidt, H, Schuster, H, Stuhrmann, M, Yamamura, T, Junien, C, Béroud, C, Boileau, C
Publicado em 1998

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Por Castellani, C., Cuppens, H., Macek, M., Cassiman, J.J., Kerem, E., Durie, P., Tullis, E., Assael, B.M., Bombieri, C., Brown, A., Casals, T., Claustres, M., Cutting, G.R., Dequeker, E., Dodge, J., Doull, I., Farrell, P., Ferec, C., Girodon, E., Johannesson, M., Kerem, B., Knowles, M., Munck, A., Pignatti, P.F., Radojkovic, D., Rizzotti, P., Schwarz, M., Stuhrmann, M., Tzetis, M., Zielenski, J., Elborn, J.S.
Publicado em 2008