Ingrid Hausser: search on Z-Library

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1

Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome

Trah, Julian, Has, Christina, Hausser, Ingrid, Kutzner, Heinz, Reinshagen, Konrad, Königs, Ingo

Journal:

Dermatology and Therapy

Year:

2018

Language:

english

File:

PDF, 1.75 MB

english, 2018

2

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes

Janbernd Kirschner, Ingrid Hausser, Yaqun Zou, Gudrun Schreiber, Hans-Jürgen Christen, Susan C. Brown, Ingrun Anton-Lamprecht, Francesco Muntoni, Folker Hanefeld, Carsten G. Bönnemann

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 189 KB

english, 2005

3

Prenatal diagnosis of genodermatoses by ultrastructural diagnostic markers in extra-embryonic tissues: defective hemidesmosomes in amnion epithelium of fetuses affected with epidermolysis bullosa Herlitz type (an alternative prenatal diagnosis in certain cases)

Ingrid Hausser, Ingrun Anton-Lamprecht

Journal:

Year:

1990

Language:

english

File:

PDF, 4.57 MB

english, 1990

4

Conditional Spike Transmission Mediated by Electrical Coupling Ensures Millisecond Precision-Correlated Activity among Interneurons In Vivo

van Welie, Ingrid, Roth, Arnd, Ho, Sara S.N., Komai, Shoji, Häusser, Michael

Journal:

Year:

2016

Language:

english

File:

PDF, 3.04 MB

english, 2016

5

Familial aortic disease and a large duplication in chromosome 16p13.1

Erhart, Philipp, Brandt, Tobias, Straub, Beate K., Hausser, Ingrid, Hentze, Sabine, Böckler, Dittmar, Grond-Ginsbach, Caspar

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

6

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells

Mencía, Ángeles, Chamorro, Cristina, Bonafont, Jose, Duarte, Blanca, Holguin, Almudena, Illera, Nuria, Llames, Sara G., Escámez, Maria José, Hausser, Ingrid, Del Río, Marcela, Larcher, Fernando, Muril

Journal:

Molecular Therapy — Nucleic Acids

Year:

2018

Language:

english

File:

PDF, 2.28 MB

english, 2018

7

Pathological Case of the Month

Dame, Christof, Hausser, Ingrid, Geukens, Janique, Brenner, Rolf E.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

2001

Language:

english

File:

PDF, 119 KB

english, 2001

8

The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)

Fransiska Malfait, Peter De Coster, Ingrid Hausser, Anthonie J. van Essen, Peter Franck, Alain Colige, Betty Nusgens, Luc Martens, Anne De Paepe

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 703 KB

english, 2004

9

Novel autosomal recessive progressive hyperpigmentation syndrome

Ulrike Hüffmeier, Ingrid Hausser, André Reis, Anita Rauch

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 306 KB

english, 2005

10

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene

Luitgard M. Graul-Neumann, Ingrid Hausser, Maximilian Essayie, Anita Rauch, Cornelia Kraus

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 266 KB

english, 2008

11

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

Beate Albrecht, Arjan P. de Brouwer, Dirk J. Lefeber, Kirsten Cremer, Ingrid Hausser, Nick Rossen, Saskia B. Wortmann, Ron A. Wevers, Uwe Kornak, Eva Morava

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 101 KB

english, 2010

12

Exclusion mapping of the genetic predisposition for cervical artery dissections by linkage analysis

Caspar Grond-Ginsbach, Bernhard Klima, Ralf Weber, Johannes Striegel, Christine Fischer, Werner Hacke, Tobias Brandt, Ingrid Hausser

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 533 KB

english, 2002

13

Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections

Dr. Tobias Brandt, Ingrid Hausser, Erdem Orberk, Armin Grau, Wolfgang Hartschuh, Ingrun Anton-Lamprecht, Werner Hacke

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 1.31 MB

english, 1998

14

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Sofie Symoens, Fransiska Malfait, Marjolijn Renard, Josette André, Ingrid Hausser, Bart Loeys, Paul Coucke, Anne De Paepe

Journal:

Year:

2009

Language:

english

File:

PDF, 420 KB

english, 2009

15

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Hausser, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul

Journal:

Year:

2011

Language:

english

File:

PDF, 498 KB

english, 2011

16

Ultrastructure of first trimester chorionic villi with regard to the prenatal diagnosis of genodermatoses

Dr. Ingrid Hausser, Ingrun Anton-Lamprecht

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 1.55 MB

english, 1988

17

Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I–IV as a means of diagnostics and classification

Ingrid Hausser, Ingrun Anton-Lamprecht

Journal:

Year:

1994

Language:

english

File:

PDF, 1.68 MB

english, 1994

18

Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk

Ingrid Hausser, Ingrun Anton-Lamprecht

Journal:

Year:

1991

Language:

english

File:

PDF, 4.53 MB

english, 1991

19

Clinical quiz

Karl Schärer, Ingrid Hausser, Ingrun Anton-Lamprecht, Wolfgang Tilgen

Journal:

Pediatric Nephrology

Year:

1990

Language:

english

File:

PDF, 733 KB

english, 1990

20

Different types of connective tissue alterations associated with cervical artery dissections

Ingrid Hausser, Uta Müller, Stefan Engelter, Philippe Lyrer, Alessandro Pezzini, Alessandro Padovani, Birgit Moormann, Otto Busse, Ralf Weber, Tobias Brandt, Caspar Grond-Ginsbach

Journal:

Acta Neuropathologica

Year:

2004

Language:

english

File:

PDF, 444 KB

english, 2004

21

Restrictive dermopathy: a rare laminopathy

Marc Thill, Thuy Duong Nguyen, Manfred Wehnert, Dorothea Fischer, Ingrid Hausser, Susanne Braun, Christian Jackisch

Journal:

Archives of Gynecology and Obstetrics

Year:

2008

Language:

english

File:

PDF, 455 KB

english, 2008

22

Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections

Florian von Pein, Merja Välkkilä, Ralf Schwarz, Marion Morcher, Bernhard Klima, Armin Grau, Leena Ala-Kokko, Ingrid Hausser, Tobias Brandt, Caspar Grond-Ginsbach

Journal:

Journal of Neurology

Year:

2002

Language:

english

File:

PDF, 180 KB

english, 2002

23

Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome

Hendrik Bläker, Benjamin Funke, Ingrid Hausser, Thilo Hackert, Peter Schirmacher, Frank Autschbach

Journal:

Virchows Archiv

Year:

2007

Language:

english

File:

PDF, 231 KB

english, 2007

24

Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system—a novel entity?

Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, Ingrid Hausser, Andreas van Baalen, Hiltrud Muhle, Karsten Alfke, Almuth Caliebe, Ulrich Stephani, Rudolf Happle

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 293 KB

english, 2010

25

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Rita Kretz, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Marianne Rohrbach, Ingrid Hausser, Alessandra Baumer, Matthias Baumgartner, Cecilia Giunta, Ariana Kariminejad, Johannes Häberle

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 548 KB

english, 2011

26

A novel eicosanoid pathway is essential for the epidermal barrier function: lessons from congenital ichthyosis and 12R-lipoxygenase deficient mice

Peter Krieg, Nikolas Epp, Gerhard Fürstenberger, Silvia de Juanes, Katja-Martina Eckl, Hans Christian Hennies, Ingrid Hausser, Florian Thieme, Gerhard Liebisch, Gerd Schmitz, Hans-Jürgen Stark

Journal:

Chemistry and Physics of Lipids

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

27

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers-Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Colige, Alain, Nuytinck, Lieve, Hausser, Ingrid, van Essen, Anthonie J., Thiry, Marc, Herens, Christian, Ades, Lesley C., Malfait, Fransiska, Paepe, Anne De, Franck, Peter, Wolff, Gerhard, Oosterwijk,

Journal:

The Journal of Investigative Dermatology

Year:

2004

Language:

english

File:

PDF, 658 KB

english, 2004

28

Ehlers Danlos Syndrom - 20 Jahre Erfahrungen in Diagnostik und Klassifikation an der Universitäts-Hautklinik Heidelberg

Sylvia Proske, Wolfgang Hartschuh, Alexander Enk, Ingrid Hausser

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Year:

2006

File:

PDF, 606 KB

2006

29

Ehlers-Danlos syndrome – 20 years experience with diagnosis and classification

Sylvia Proske, Wolfgang Hartschuh, Alexander Enk, Ingrid Hausser

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Year:

2006

File:

PDF, 599 KB

2006

30

Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing

Alef, Thomas, Torres, Serena, Hausser, Ingrid, Metze, Dieter, Türsen, Ümit, Lestringant, Gilles G, Hennies, Hans Christian

Journal:

The Journal of Investigative Dermatology

Year:

2008

Language:

english

File:

PDF, 1.96 MB

english, 2008

31

Development of an Ichthyosiform Phenotype in Alox12b-Deficient Mouse Skin Transplants

Juanes, Silvia de, Epp, Nikolas, Latzko, Susanne, Neumann, Mareen, Fürstenberger, Gerhard, Hausser, Ingrid, Stark, Hans-Jürgen, Krieg, Peter

Journal:

The Journal of Investigative Dermatology

Year:

2009

Language:

english

File:

PDF, 3.48 MB

english, 2009

32

Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene

Terheyden, Patrick, Grimberg, Gundula, Hausser, Ingrid, Rose, Christian, Korge, Bernhard P, Krieg, Thomas, Arin, Meral J

Journal:

The Journal of Investigative Dermatology

Year:

2009

Language:

english

File:

PDF, 212 KB

english, 2009

33

In VitroCutaneous Application of ISCOMs on Human Skin Enhances Delivery of Hydrophobic Model Compounds Through the Stratum Corneum

Henriette Baun Madsen, Peter Ifversen, Flemming Madsen, Birger Brodin, Ingrid Hausser, Hanne Mørck Nielsen

Journal:

The AAPS Journal

Year:

2009

Language:

english

File:

PDF, 550 KB

english, 2009

34

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Guaguère, Eric, Planchais, Sandrine, Grond, Susanne, Bourrat, Emmanuelle, Hausser, Ingrid, Hitte, Christophe, Le Gallo, Matthieu, Derbois, Céline, Kim, Gwang-Jin, Grall, Anaïs

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.67 MB

english, 2012

35

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion

Diana C. Blaydon, Daniela Nitoiu, Katja-Martina Eckl, Rita M. Cabral, Philip Bland, Ingrid Hausser, David A. van Heel, Shefali Rajpopat, Judith Fischer, Vinzenz Oji, Alex Zvulunov, Heiko Traupe, Hans

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.04 MB

english, 2011

36

Severe Congenital Generalized Exfoliative Erythroderma in Newborns and Infants: A Possible Sign of Netherton Syndrome

Ingrid Hausser, Ingrun Anton-Lamprecht

Journal:

Pediatric Dermatology

Year:

1996

Language:

english

File:

PDF, 6.05 MB

english, 1996

37

Ichthyosis prematurity syndrome: Clinical evaluation of 17 families with a rare disorder of lipid metabolism

Denis Khnykin, Jørgen Rønnevig, Margareta Johnsson, Jan C. Sitek, Harm-Gerd K. Blaas, Ingrid Hausser, Finn-Eirik Johansen, Frode L. Jahnsen

Journal:

Journal of the American Academy of Dermatology

Year:

2012

Language:

english

File:

PDF, 2.43 MB

english, 2012

38

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family

Bettina Borm, Lisbeth Birk Møller, Ingrid Hausser, Michael Emeis, Kurt Baerlocher, Nina Horn, Rainer Rossi

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 584 KB

english, 2004

39

ClpV recycles VipA/VipB tubules and prevents non-productive tubule formation to ensure efficient type VI protein secretion

Kapitein, Nicole, Bönemann, Gabriele, Pietrosiuk, Aleksandra, Seyffer, Fabian, Hausser, Ingrid, Locker, Jacomine Krijnse, Mogk, Axel

Journal:

Molecular Microbiology

Year:

2013

Language:

english

File:

PDF, 6.20 MB

english, 2013

40

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

Martinelli, Diego, Häberle, Johannes, Rubio, Vicente, Giunta, Cecilia, Hausser, Ingrid, Carrozzo, Rosalba, Gougeard, Nadine, Marco-Marín, Clara, Goffredo, Bianca M., Meschini, Maria Chiara, Bevivino,

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 1.21 MB

english, 2012

41

Vascular anomalies in lipoid proteinosis (hyalinosis cutis et mucosae): Basement membrane components and ultrastructure

Mirancea, Nicolae, Hausser, Ingrid, Beck, Regina, Metze, Dieter, Fusenig, Norbert E., Breitkreutz, Dirk

Journal:

Journal of Dermatological Science

Year:

2006

Language:

english

File:

PDF, 803 KB

english, 2006

42

Junctional basement membrane anomalies of skin and mucosa in lipoid proteinosis (hyalinosis cutis et mucosae)

Mirancea, Nicolae, Hausser, Ingrid, Metze, Dieter, Stark, Hans-Jürgen, Boukamp, Petra, Breitkreutz, Dirk

Journal:

Journal of Dermatological Science

Year:

2007

Language:

english

File:

PDF, 1.61 MB

english, 2007

43

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Aufenvenne, Karin, Larcher, Fernando, Hausser, Ingrid, Duarte, Blanca, Oji, Vinzenz, Nikolenko, Heike, Del Rio, Marcela, Dathe, Margitta, Traupe, Heiko

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.13 MB

english, 2013

44

Early venous manifestation of Ehlers–Danlos syndrome Type IV through a novel mutation in COL3A1

Wendorff, Heiko, Pelisek, Jaroslav, Zimmermann, Alexander, Mayer, Karin, Seidel, Heide, Weirich, Gregor, Hausser, Ingrid, Siegel, Corinna, Zernecke, Alma, Eckstein, Hans-Henning

Journal:

Cardiovascular Pathology

Year:

2013

Language:

english

File:

PDF, 2.76 MB

english, 2013

45

12R-Lipoxygenase Deficiency Disrupts Epidermal Barrier Function

Nikolas Epp, Gerhard Fürstenberger, Karsten Müller, Silvia de Juanes, Michael Leitges, Ingrid Hausser, Florian Thieme, Gerhard Liebisch, Gerd Schmitz and Peter Krieg

Journal:

The Journal of Cell Biology

Year:

2007

Language:

english

File:

PDF, 2.65 MB

english, 2007

46

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations

Kiritsi, Dimitra, Valari, Manthoula, Fortugno, Paola, Hausser, Ingrid, Lykopoulou, Lilia, Zambruno, Giovanna, Fischer, Judith, Bruckner-Tuderman, Leena, Jakob, Thilo, Has, Cristina

Journal:

Journal of Allergy and Clinical Immunology

Year:

2015

Language:

english

File:

PDF, 2.95 MB

english, 2015

47

High Local Concentrations of Intradermal MSCs Restore Skin Integrity and Facilitate Wound Healing in Dystrophic Epidermolysis Bullosa

Kühl, Tobias, Mezger, Markus, Hausser, Ingrid, Handgretinger, Rupert, Bruckner-Tuderman, Leena, Nyström, Alexander

Journal:

Molecular Therapy

Year:

2015

Language:

english

File:

PDF, 11.38 MB

english, 2015

48

Ichthyosis Prematurity Syndrome Caused by a Novel Fatty Acid Transport Protein 4 Gene Mutation in a German Infant

Inhoff, Oliver, Hausser, Ingrid, Schneider, Stefan W., Khnykin, Denis, Jahnsen, Frode L., Sartoris, Johann, Goerdt, Sergij, Peitsch, Wiebke K.

Journal:

Archives of Dermatology

Year:

2011

Language:

english

File:

PDF, 556 KB

english, 2011

49

Congenital Ichthyosis in Severe Type II Gaucher Disease with a Homozygous Null Mutation

Haverkaemper, Sabine, Marquardt, Thorsten, Hausser, Ingrid, Timme, Katharina, Kuehn, Thomas, Hertzberg, Christoph, Rossi, Rainer

Journal:

Year:

2011

Language:

english

File:

PDF, 139 KB

english, 2011

50

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Eckl, Katja-Martina, Tidhar, Rotem, Thiele, Holger, Oji, Vinzenz, Hausser, Ingrid, Brodesser, Susanne, Preil, Marie-Luise, Önal-Akan, Aysel, Stock, Friedrich, Müller, Dietmar, Becker, Kerstin, Casper,

Journal:

The Journal of Investigative Dermatology

Year:

2013

Language:

english

File:

PDF, 11.99 MB

english, 2013