Search Results - "STUHRMANN, M"

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

“…Abstract It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the…”
Get full text

Recommendations for the classification of diseases as CFTR-related disorders by 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, G.R, Drevínek, P, Farrell, P, Elborn, J.S, Jarvi, K, Kerem, B, Kerem, E, Knowles, M, Macek, M, Munck, A, Radojkovic, D, Seia, M, Sheppard, D.N, Southern, K.W, Stuhrmann, M, Tullis, E, Zielenski, J, Pignatti, P.F, Ferec, C

“…Abstract Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a…”
Get full text

The interplay of chronic stress and genetic traits discriminates between patients suffering from multisomatoform disorder with pain as the leading symptom and matched controls by Buhck, M., Achenbach, J., Wiese, B., Tran, A.T., Stuhrmann, M., Jaeger, B., Bernateck, M., Schneider, N., Karst, M.

“…Somatoform disorders and functional somatic syndromes (FSS) with symptoms that are not sufficiently explained by physical or technical examination are among…”
Get full text

Aortic dissecting aneurysms—Histopathological findings by Bode-Jänisch, S, Schmidt, A, Günther, D, Stuhrmann, M, Fieguth, A

“…Abstract Acute aortic dissection is a life-threatening disease with a high rate of mortality. At the Institute of Legal Medicine of the Hanover Medical School,…”
Get full text

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease by Azad, Abul Kalam, Rauh, Robert, Vermeulen, François, Jaspers, Martine, Korbmacher, Judit, Boissier, Brigitte, Bassinet, Laurence, Fichou, Yann, Georges, Marie des, Stanke, Frauke, De Boeck, Kris, Dupont, Lieven, Balaščáková, Miroslava, Hjelte, Lena, Lebecque, Patrick, Radojkovic, Dragica, Castellani, Carlo, Schwartz, Marianne, Stuhrmann, Manfred, Schwarz, Martin, Skalicka, Veronika, de Monestrol, Isabelle, Girodon, Emmanuelle, Férec, Claude, Claustres, Mireille, Tümmler, Burkhard, Cassiman, Jean-Jacques, Korbmacher, Christoph, Cuppens, Harry

“…We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in…”
Get full text

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome by Sheikhzadeh, S, Kade, C, Keyser, B, Stuhrmann, M, Arslan-Kirchner, M, Rybczynski, M, Bernhardt, AM, Habermann, CR, Hillebrand, M, Mir, T, Robinson, PN, Berger, J, Detter, C, Blankenberg, S, Schmidtke, J, von Kodolitsch, Y

“…Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan‐Kirchner M, Rybczynski M, Bernhardt AM, Habermann CR, Hillebrand M, Mir T, Robinson PN, Berger J, Detter…”
Get full text

Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome by Mössner, R, Müller-Vahl, K R, Döring, N, Stuhrmann, M

Get full text

Tumor Vascularity of Breast Lesions: Potentials and Limits of Contrast-Enhanced Doppler Sonography by Stuhrmann, Markus, Aronius, Ramon, Schietzel, Michael

“…We investigated improving the evaluation of benignity in breast lesions using Doppler sonography with galactose palmitic acid-coated microbubbles. In 77…”
Get full text

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23 by Stuhrmann, M, Hennies, HC, Bukhari, IA, Brakensiek, K, Nürnberg, G, Becker, C, Huebener, J, Miranda, MC, Frye-Boukhriss, H, Knothe, S, Schmidtke, J, El-Harith, E-HA

“…Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both…”
Get full text

Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients by Alkharsah, K.R., Alzahrani, A.J., Obeid, O.E., El-Harith, E.-H.A., Guella, A., Mohamed, E.A., Haykal, A.H., Stuhrmann, M., Al-Ali, A.K.

“…Background Kaposi's sarcoma herpesvirus (KSHV) causes Kaposi's sarcoma (KS), primary effusion lymphoma, and multicentric Castleman's disease in…”
Get full text

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis by Ockenga, J, Stuhrmann, M, Ballmann, M, Teich, N, Keim, V, Dörk, T, Manns, M.P

“…OBJECTIVE: We investigated whether mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and cationic trypsinogen gene are…”
Get full text

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis by Ockenga, J, Stuhrmann, M, Ballmann, M, Teich, N, Keim, V, Dörk, T, Manns, M P

“…We investigated whether mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and cationic trypsinogen gene are associated with…”
Get full text

CFTR gene mutations and male infertility by Stuhrmann, M., Dörk, T.

“…Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are a relatively frequent cause of male infertility. Depending on their…”
Get full text

Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family by Bukhari, IA, EL-Harith, EA, Stuhrmann, M

Get full text

Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis by Apitz, C, Mackensen-Haen, S, Girisch, M, Kerst, G, Wiegand, G, Stuhrmann, M, Niethammer, K, Behrwind, G, Hofbeck, M

“…Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular…”
Get more information

A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene by Gadzicki, D, Müller-Vahl, K, Stuhrmann, M

“…The central cannabinoid receptor (CB1) mediates the pharmacological activities of cannabis, the endogenous agonist anandamide and several synthetic agonists…”
Get full text

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia by Brakensiek, K, Frye-Boukhriss, H, Mälzer, M, Abramowicz, M, Bahr, MJ, Von Beckerath, N, Bergmann, C, Caselitz, M, Holinski-Feder, E, Muschke, P, Oexle, K, Strobl-Wildemann, G, Wolff, G, El-Harith, EA, Stuhrmann, M

“…Hereditary haemorrhagic telangiectasia (HHT) is a heterogeneous multisystemic dysplasia of the vascular tissue. This autosomal dominant inherited disorder…”
Get full text

Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practice by Goebel, J. C., Soergel, P., Pruggmayer, M., Mühlhaus, K., Stuhrmann, M., Scharf, A.

“…Objective To retrospectively examine the diagnostic accuracy of prenatal RhD blood type genotyping on amniotic fluid, using a combination of two polymerase…”
Get full text

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this Cystic Fibrosis Transmembrane Conductance Regulator mutation does not cause cystic fibrosis by Derichs, N., Schuster, A., Grund, I., Ernsting, A., Stolpe, C., Körtge-Jung, S., Gallati, S., Stuhrmann, M., Kozlowski, P., Ballmann, M.

Get full text

Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis by OCKENGA, JOHANN, DÖRK, THILO, STUHRMANN, MANFRED

“…E ditor -Chronic idiopathic pancreatitis is a genetically heterogeneous disease. 1-3 Mutations of the cationic trypsinogen (CT) gene underlie some cases of…”
Get full text