Works matching AU Schmidt, Hartmut H.-J.

Results: 48

LDL-receptor mutations in Europe.

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 277, doi. 10.1002/humu.20223

By:

Genschel, Janine;
Dedoussis, George V.Z.;
Schmidt, Hartmut H.-J.

Publication type:

Article

Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 398, doi. 10.1002/humu.9227

By:

Deguti, Marta M.;
Genschel, Janine;
Cancado, Eduardo L.R.;
Barbosa, Egberto R.;
Bochow, Bettina;
Mucenic, Marcos;
Porta, Gilda;
Lochs, Herbert;
Carrilho, Flair J.;
Schmidt, Hartmut H.-J.

Publication type:

Article

Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.44

By:

Genschel, Janine;
Thomas, Hans-Peter;
Kassner, Ursula;
Lochs, Herbert;
Steinhagen-Thiessen, Elisabeth;
Schmidt, Hartmut H-J.

Publication type:

Article

Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.

Published in:

Human Mutation, 2001, v. 17, n. 2, p. 156, doi. 10.1002/1098-1004(200102)17:2<156::AID-HUMU18>3.0.CO;2-0

By:

Genschel, Janine;
Czlonkowska, Anna;
Sommer, Grit;
Buettner, Carsten;
Bochow, Bettina;
Lochs, Herbert;
Schmidt, Hartmut H-J.

Publication type:

Article

A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

Published in:

Human Mutation, 2001, v. 17, n. 2, p. 154, doi. 10.1002/1098-1004(200102)17:2<154::AID-HUMU11>3.0.CO;2-R

By:

Genschel, Janine;
Bochow, Bettina;
Kuepferling, Susanne;
Ewert, Ralf;
Hetzer, Roland;
Lochs, Herbert;
Schmidt, Hartmut H-J.

Publication type:

Article

Mutations in the LMNA gene encoding lamin A/C.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 451, doi. 10.1002/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9

By:

Genschel, Janine;
Schmidt, Hartmut H.-J.

Publication type:

Article

Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 278, doi. 10.1002/1098-1004(200009)16:3<278::AID-HUMU30>3.0.CO;2-5

By:

Genschel, Janine;
Sommer, Grit;
Haas, Regina;
Buettner, Carsten;
Bochow, Bettina;
Manns, Michael;
Lochs, Herbert;
Schmidt, Hartmut H.-J.

Publication type:

Article

A new frameshift mutation at codon 466 (1397delA) within the LMNA gene.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 278, doi. 10.1002/1098-1004(200009)16:3<278::AID-HUMU28>3.0.CO;2-J

By:

Genschel, Janine;
Baier, Peter;
Kuepferling, Susanne;
Proepsting, Marcus J.;
Buettner, Carsten;
Ewert, Ralf;
Hetzer, Roland;
Lochs, Herbert;
Schmidt, Hartmut H.-J.

Publication type:

Article

Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H

By:

Haas, Regina;
Gutierrez-Rivero, Bertha;
Knoche, Judith;
Böker, Klaus;
Manns, Michael P.;
Schmidt, Hartmut H.-J.

Publication type:

Article

'Red-flag' symptom clusters in transthyretin familial amyloid polyneuropathy.

Published in:

Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 5, doi. 10.1111/jns.12153

By:

Conceição, Isabel;
González‐Duarte, Alejandra;
Obici, Laura;
Schmidt, Hartmut H.‐J.;
Simoneau, Damien;
Ong, Moh‐Lim;
Amass, Leslie

Publication type:

Article

Early initiation of MARS® dialysis in Amanita phalloides-induced acute liver injury prevents liver transplantation.

Published in:

Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2016, v. 15, n. 5, p. 775, doi. 10.5604/16652681.1212617

By:

Pillukat, Mike Hendrik;
Schomacher, Tina;
Baier, Peter;
Gabriëls, Gert;
Pavenstädt, Hermann;
Schmidt, Hartmut H. J.

Publication type:

Article

DLG5 Variants in Inflammatory Bowel Disease.

Published in:

American Journal of Gastroenterology (Springer Nature), 2006, v. 101, n. 4, p. 786, doi. 10.1111/j.1572-0241.2006.00431.x

By:

Büning, Carsten;
Geerdts, Lars;
Fiedler, Thomas;
Gentz, Enno;
Pitre, Ghyslaine;
Reuter, Wolf;
Luck, Werner;
Buhner, Sabine;
Molnar, Tomas;
Nagy, Ferenc;
Lonovics, Janos;
Dignass, Axel;
Landt, Olfert;
Nickel, Renate;
Genschel, Janine;
Lochs, Herbert;
Schmidt, Hartmut H.-J.;
Witt, Heiko

Publication type:

Article

Hepatic Steatosis in Dunnigan-Type Familial Partial Lipodystrophy.

Published in:

American Journal of Gastroenterology (Springer Nature), 2005, v. 100, n. 10, p. 2218, doi. 10.1111/j.1572-0241.2005.00234.x

By:

Lüdtke, Angelika;
Genschel, Janine;
Brabant, Georg;
Bauditz, Jürgen;
Taupitz, Matthias;
Koch, Martin;
Wermke, Wolfram;
Worman, Howard J.;
Schmidt, Hartmut H.-J.

Publication type:

Article

Non-Alcohol Induced Steatohepatitis in Non-Obese Patients: Treatment With Ursodeoxycholic Acid.

Published in:

2004

By:

Bauditz, Juergen;
Schmidt, Hartmut H.-J.;
Dippe, Patrizia;
Lochs, Herbert;
Pirlich, Matthias

Publication type:

Letter

Liver Cirrhosis in Erythropoietic Protoporphyria: Improvement of Liver Function With Ursodeoxycholic Acid.

Published in:

2001

By:

Pirlich, Matthias;
Lochs, Herbert;
Schmidt, Hartmut H.-J.

Publication type:

Letter

The Spleen as a Storage Pool in Lipid Metabolism.

Published in:

1997

By:

Schmidt, Hartmut H.-J.;
Wagner, Siegfried;
Manns, Michael

Publication type:

Letter

Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.

Published in:

Amyloid, 2020, v. 27, n. 3, p. 153, doi. 10.1080/13506129.2020.1730790

By:

Obici, Laura;
Berk, John L.;
González-Duarte, Alejandra;
Coelho, Teresa;
Gillmore, Julian;
Schmidt, Hartmut H.-J.;
Schilling, Matthias;
Yamashita, Taro;
Labeyrie, Céline;
Brannagan III, Thomas H.;
Ajroud-Driss, Senda;
Gorevic, Peter;
Kristen, Arnt V.;
Franklin, Jaclyn;
Chen, Jihong;
Sweetser, Marianne T.;
Wang, Jing Jing;
Adams, David

Publication type:

Article

APOE polymorphism in ATTR amyloidosis patients treated with lipid nanoparticle siRNA.

Published in:

Amyloid, 2020, v. 27, n. 1, p. 45, doi. 10.1080/13506129.2019.1681392

By:

Niemietz, Christoph;
Nadzemova, Oksana;
Zibert, Andree;
Schmidt, Hartmut H.-J.

Publication type:

Article

Enhanced monitoring and detection of recent genotype 3 hepatitis E virus infection through urine antigen testing.

Published in:

2023

By:

Stahl, Yannick;
Kabar, Iyad;
Heinzow, Hauke;
Maasoumy, Benjamin;
Bremer, Birgit;
Wedemeyer, Heiner;
Schmidt, Hartmut H.-J.;
Pietschmann, Thomas;
Schlevogt, Bernhard;
Behrendt, Patrick

Publication type:

Letter to the Editor

Fingolimod (FTY720) in Severe Hepatic Impairment: Pharmacokinetics and Relationship to Markers of Liver Function.

Published in:

Journal of Clinical Pharmacology, 2006, v. 46, n. 2, p. 149, doi. 10.1177/0091270005283464

By:

Kovarik, John M.;
Schmouder, Robert L.;
Hartmann, Stefan;
Riviere, Gilles-Jacques;
Picard, Franck;
Voss, Brigitta;
Weiss, Markus;
Wagner, Frank;
Schmidt, Hartmut H.-J.

Publication type:

Article

Quantification of Lipoprotein(a): Comparison of an Automated Latex-Enhanced Nephelometric Assay with an Immunoenzymometric Method.

Published in:

Clinical Chemistry & Laboratory Medicine, 1996, v. 34, n. 2, p. 119

By:

Schmidt, Hartmut H.-J.;
Genschel, Janine C.;
Wagner, Siegfried;
Manns, Michael R.

Publication type:

Article

LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.

Published in:

2010

By:

Boschmann, Michael;
Engeli, Stefan;
Moro, Cedric;
Luedtke, Angelika;
Adams, Frauke;
Gorzelniak, Kerstin;
Rahn, Gabriele;
Mähler, Anja;
Dobberstein, Kerstin;
Krüger, Antje;
Schmidt, Saskia;
Spuler, Simone;
Luft, Friedrich C;
Smith, Steven R;
Schmidt, Hartmut H-J;
Jordan, Jens

Publication type:

journal article

Peroxisome Proliferator-Activated Receptor-γ C190S Mutation Causes Partial Lipodystrophy.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 6, p. 2248, doi. 10.1210/jc.2005-2624

By:

Lüdtke, Angelika;
Buettner, Janine;
Wei Wu;
Muchir, Antoine;
Schroeter, Andreas;
Zinn-Justin, Sophie;
Spuler, Simone;
Schmidt, Hartmut H.-J.;
Worman, Howard J.

Publication type:

Article

Dyslipemia in Familial Partial Lipodystrophy Caused by an R482W Mutation in the LMNA Gene.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 5, p. 2289, doi. 10.1210/jcem.86.5.7500

By:

SCHMIDT, HARTMUT H.-J.;
GENSCHEL, JANINE;
BAIER, PETER;
SCHMIDT, MARTINA;
OCKENGA, JOHANN;
TIETGE, UWE J. F.;
PRÖPSTING, MARCUS;
BÜTTNER, CARSTEN;
MANNS, MICHAEL P.;
LOCHS, HERBERT;
BRABANT, GEORG

Publication type:

Article

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.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 6, p. 2167, doi. 10.1210/jcem.83.6.4840

By:

SCHMIDT, HARTMUT H.-J.;
STUHRMANN, MANFRED;
SHAMBUREK, ROBERT;
SCHEWE, C. KNUD;
EBHARDT, MARGIT;
ZECH, LOREN A.;
BÜTTNER, CARSTEN;
WENDT, MATTHIAS;
BEISIEGEL, ULRIKE;
BREWER JR., H. BRYAN;
MANNS, MICHAEL P.

Publication type:

Article

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

Published in:

Basic Research in Cardiology, 2009, v. 104, n. 1, p. 90, doi. 10.1007/s00395-008-0748-6

By:

Perrot, Andreas;
Hussein, Shwan;
Ruppert, Volker;
Schmidt, Hartmut H. J.;
Wehnert, Manfred S.;
Duong, Nguyen Thuy;
Posch, Maximilian G.;
Panek, Anna;
Dietz, Rainer;
Kindermann, Ingrid;
Böhm, Michael;
Michalewska-Wludarczyk, Aleksandra;
Richter, Anette;
Maisch, Bernhard;
Pankuweit, Sabine;
Özcelik, Cemil

Publication type:

Article

Methodological Aspects of Flow Cytometry to Measure Low-Density Lipoprotein Receptor Expression on Peripheral Monocytes.

Published in:

Journal of Applied Research, 2003, v. 3, n. 4, p. 495

By:

Selberg, Oliver;
Alheid, Ute;
Gutierrez, Bertha;
Sachse, Christopher;
Schneider, Andrea;
Rath, Norbert E.;
Schmidt, Hartmut H. J.

Publication type:

Article

Neuroinflammatory and behavioural changes in the Atp7B mutant mouse model of Wilson's disease.

Published in:

Journal of Neurochemistry, 2011, v. 118, n. 1, p. 105, doi. 10.1111/j.1471-4159.2011.07278.x

By:

Terwel, Dick;
Löschmann, Yi-Na;
Schmidt, Hartmut H.-J.;
Schöler, Hans R.;
Cantz, Tobias;
Heneka, Michael T.

Publication type:

Article

Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: Demand for strategies in the management of presymptomatic lamin A/C mutant carriers

Published in:

European Journal of Heart Failure, 2006, v. 8, n. 5, p. 484, doi. 10.1016/j.ejheart.2005.11.004

By:

Perrot, Andreas;
Sigusch, Holger H.;
Nägele, Herbert;
Genschel, Janine;
Lehmkuhl, Hans;
Hetzer, Roland;
Geier, Christian;
Leon Perez, Veronica;
Reinhard, Dirk;
Dietz, Rainer;
Josef Osterziel, Karl;
Schmidt, Hartmut H.-J.

Publication type:

Article

Molecular adsorbent recirculating system (MARS) in acute liver injury and graft dysfunction: Results from a case-control study.

Published in:

PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175529

By:

Gerth, Hans U.;
Pohlen, Michele;
Thölking, Gerold;
Pavenstädt, Hermann;
Brand, Marcus;
Wilms, Christian;
Hüsing-Kabar, Anna;
Görlich, Dennis;
Kabar, Iyad;
Schmidt, Hartmut H. J.

Publication type:

Article

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis.

Published in:

PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168372

By:

Todorov, Theodor;
Balakrishnan, Prahlad;
Savov, Alexey;
Socha, Piotr;
Schmidt, Hartmut H. J.

Publication type:

Article

Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells.

Published in:

PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0161455

By:

Niemietz, Christoph J.;
Sauer, Vanessa;
Stella, Jacqueline;
Fleischhauer, Lutz;
Chandhok, Gursimran;
Guttmann, Sarah;
Avsar, Yesim;
Guo, Shuling;
Ackermann, Elizabeth J.;
Gollob, Jared;
Monia, Brett P.;
Zibert, Andree;
Schmidt, Hartmut H. -J.

Publication type:

Article

Legal Limbo.

Published in:

2017

By:

Parzeller, Markus;
Zedler, Barbara;
Verhoff, Marcel A.;
Schmidt, Hartmut H.-J.;
Gutmann, Thomas

Publication type:

Letter to the Editor

Organ-Protective Intensive Care in Organ Donors.

Published in:

Deutsches Ärzteblatt International, 2016, v. 113, n. 33/34, p. 552, doi. 10.3238/arztebl.2016.0552

By:

Hahnenkamp, Klaus;
Böhler, Klaus;
Wolters, Heiner;
Wiebe, Karsten;
Schneider, Dietmar;
Schmidt, Hartmut H.-J.

Publication type:

Article

In Vitro and In Vivo Effects of SerpinA1 on the Modulation of Transthyretin Proteolysis.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9488, doi. 10.3390/ijms22179488

By:

Bezerra, Filipa;
Niemietz, Christoph;
Schmidt, Hartmut H. J.;
Zibert, Andree;
Guo, Shuling;
Monia, Brett P.;
Gonçalves, Paula;
Saraiva, Maria João;
Almeida, Maria Rosário

Publication type:

Article

Evaluation of domino liver transplantations in Germany.

Published in:

Transplant International, 2013, v. 26, n. 7, p. 715, doi. 10.1111/tri.12110

By:

Bolte, Fabian Johannes;
Schmidt, Hartmut H.-J.;
Becker, Thomas;
Braun, Felix;
Pascher, Andreas;
Klempnauer, Jürgen;
Schmidt, Jan;
Nadalin, Silvio;
Otto, Gerd;
Barreiros, Ana Paula

Publication type:

Article

LMNA Mutations in Cardiac Transplant Recipients.

Published in:

Cardiology, 2005, v. 103, n. 2, p. 57, doi. 10.1159/000082048

By:

Pethig, Klaus;
Genschel, Janine;
Peters, Tina;
Wilhelmi, Mathias;
Flemming, Peer;
Lochs, Herbert;
Haverich, Axel;
Schmidt, Hartmut H.-J.

Publication type:

Article

Higher pNRF2, SOCS3, IRF3, and RIG1 Tissue Protein Expression in NASH Patients versus NAFL Patients: pNRF2 Expression Is Concomitantly Associated with Elevated Fasting Glucose Levels.

Published in:

Journal of Personalized Medicine, 2023, v. 13, n. 7, p. 1152, doi. 10.3390/jpm13071152

By:

Schwertheim, Suzan;
Alhardan, Malek;
Manka, Paul P.;
Sowa, Jan-Peter;
Canbay, Ali;
Schmidt, Hartmut H.-J.;
Baba, Hideo A.;
Kälsch, Julia

Publication type:

Article

New Prognostic Score (Essen Score) to Predict Postoperative Morbidity after Resection of Lung Metastases.

Published in:

Cancers, 2023, v. 15, n. 17, p. 4355, doi. 10.3390/cancers15174355

By:

Grapatsas, Konstantinos;
Dörr, Fabian;
Menghesha, Hruy;
Schuler, Martin;
Grünwald, Viktor;
Bauer, Sebastian;
Schmidt, Hartmut H. -J.;
Lang, Stephan;
Kimmig, Rainer;
Kasper, Stefan;
Baldes, Natalie;
Bölükbas, Servet

Publication type:

Article

Bilobar Radioembolization Carries the Risk of Radioembolization-Induced Liver Disease in the Treatment of Advanced Hepatocellular Carcinoma: Safety and Efficacy Comparison to Systemic Therapy with Atezolizumab/Bevacizumab.

Published in:

Cancers, 2023, v. 15, n. 17, p. 4274, doi. 10.3390/cancers15174274

By:

Jeschke, Matthias;
Ludwig, Johannes M.;
Leyh, Catherine;
Pabst, Kim M.;
Weber, Manuel;
Theysohn, Jens M.;
Lange, Christian M.;
Herrmann, Ken;
Schmidt, Hartmut H. -J.;
Jochheim, Leonie S.

Publication type:

Article

Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophy.

Published in:

Egyptian Journal of Medical Human Genetics, 2014, v. 15, n. 3, p. 235, doi. 10.1016/j.ejmhg.2014.03.004

By:

Shawky, Rabah M.;
Elsayed, Solaf M.;
Todorov, Theodor;
Zibert, Andree;
Alawbathani, Salem;
Schmidt, Hartmut H.-J.

Publication type:

Article

Prevalence of the H1069Q mutation in ATP7B in discordant pairs with early-onset Parkinson's Disease.

Published in:

Movement Disorders, 2006, v. 21, n. 10, p. 1789, doi. 10.1002/mds.21066

By:

Möller, Jens Carsten;
Leinweber, Barbara;
Rissling, Ida;
Oertel, Wolfgang Herman;
Bandmann, Oliver;
Schmidt, Hartmut H.-J.

Publication type:

Article

Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy.

Published in:

2016

By:

Schmidt, Hartmut H.‐J.;
Barroso, Fabio;
González‐Duarte, Alejandra;
Conceição, Isabel;
Obici, Laura;
Keohane, Denis;
Amass, Leslie

Publication type:

journal article

Silymarin as Supportive Treatment in Liver Diseases: A Narrative Review.

Published in:

2020

By:

Gillessen, Anton;
Schmidt, Hartmut H.-J.

Publication type:

journal article

Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271 as a Common Indian Mutation and Identification of 14 Novel Mutations.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 4, p. 299, doi. 10.1111/ahg.12024

By:

Aggarwal, Annu;
Chandhok, Gursimran;
Todorov, Theodor;
Parekh, Saloni;
Tilve, Sharada;
Zibert, Andree;
Bhatt, Mohit;
Schmidt, Hartmut H.‐J.

Publication type:

Article

Role of angiotensin-1 receptor blockade in cirrhotic liver resection.

Published in:

Liver International, 2011, v. 31, n. 5, p. 642, doi. 10.1111/j.1478-3231.2011.02493.x

By:

Bahde, Ralf;
Kebschull, Linus;
Stöppeler, Sandra;
Zibert, Andree;
Siaj, Ramsi;
Hölzen, Jens P.;
Minin, Evgeny;
Schmidt, Hartmut H.-J.;
Spiegel, Hans-Ullrich;
Palmes, Daniel

Publication type:

Article

Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.

Published in:

Clinical Transplantation, 2008, v. 22, n. 2, p. 180, doi. 10.1111/j.1399-0012.2007.00764.x

By:

Schmidt, Hartmut H-J.;
Tietge, Uwe J. F.;
Buettner, Janine;
Barg-Hock, Hannelore;
Offner, Gisela;
Schweitzer, Susanne;
Dedoussis, Giorgos V.;
Rodeck, Burkhard;
Kallfelz, Hans C.;
Schlitt, Hans-Jürgen;
Oldhafer, Karl;
Klempnauer, Jürgen

Publication type:

Article

The Effect of Zinc and D-Penicillamine in a Stable Human Hepatoma <i>ATP7B</i> Knockout Cell Line.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0098809

By:

Chandhok, Gursimran;
Schmitt, Nadine;
Sauer, Vanessa;
Aggarwal, Annu;
Bhatt, Mohit;
Schmidt, Hartmut H. J.

Publication type:

Article