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1

ChemInform Abstract: The SAMP-/RAMP-Hydrazone Methodology in Asymmetric Synthesis

Andreas Job, Carsten F. Janeck, Wolfgang Bettray, Rene Peters, Dieter Enders

Journal:

Year:

2002

File:

PDF, 25 KB

2002

2

Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis

Weber, Benedikt, Schwabegger, Anton H., Vodopiutz, Julia, Janecke, Andreas R., Forstner, Rosemarie, Steiner, Horst

Journal:

Fetal Diagnosis and Therapy

Year:

2010

Language:

english

File:

PDF, 392 KB

english, 2010

3

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations

Wu, Che-Ming, Ko, Hui-Chen, Tsou, Yung-Ting, Lin, Yin-Hung, Lin, Ju-Li, Chen, Chin-Kuo, Chen, Pei-Lung, Wu, Chen-Chi, Janecke, Andreas R.

Journal:

Year:

2015

Language:

english

File:

PDF, 250 KB

english, 2015

4

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

Andreas R. Janecke, Moritz Meins, Mojy Sadeghi, Kathrin Grundmann, Eckart Apfelstedt-Sylla, Eberhart Zrenner, Thomas Rosenberg, Andreas Gal

Journal:

Year:

1999

Language:

english

File:

PDF, 355 KB

english, 1999

5

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

Judith Loeffler, Elisabeth Soelder, Martin Erdel, Barbara Utermann, Andreas Janecke, Hans-Christoph Duba, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 160 KB

english, 2003

6

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

Andreas R. Janecke, Hans Christian Hennies, Barbara Günther, Gabriele Gansl, Josef Smolle, Elisabeth M. Messmer, Gerd Utermann, Olaf Rittinger

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 102 KB

english, 2005

7

“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype

Vera Grossmann, Doris Müller, Wilfried Müller, Friedrich Fresser, Martin Erdel, Andreas R. Janecke, Johannes Zschocke, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

8

Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

Rudolf Glueckert, Helge Rask-Andersen, Consolato Sergi, Joachim Schmutzhard, Bert Mueller, Felix Beckmann, Olaf Rittinger, Lies H. Hoefsloot, Anneliese Schrott-Fischer, Andreas R. Janecke

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 498 KB

english, 2010

9

Systematic screening and treatment evaluation of hereditary neck paragangliomas

John H. Fish, Peter Klein-Weigel, Matthias Biebl, Andreas Janecke, Thomas Tauscher, Gustav Fraedrich

Journal:

Year:

2007

Language:

english

File:

PDF, 200 KB

english, 2007

10

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D

Benigna von Brederlow, Hanno Bolz, Andreas Janecke, Alicia La O Cabrera, Günther Rudolph, Birgit Lorenz, Eberhard Schwinger, Andreas Gal

Journal:

Year:

2002

Language:

english

File:

PDF, 307 KB

english, 2002

11

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Sandie Le Guédard-Méreuze, Christel Vaché, David Baux, Valérie Faugère, Lise Larrieu, Caroline Abadie, Andreas Janecke, Mireille Claustres, Anne-Françoise Roux, Sylvie Tuffery-Giraud

Journal:

Year:

2010

Language:

english

File:

PDF, 311 KB

english, 2010

12

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel

Katja Koeppen, Peggy Reuter, Thomas Ladewig, Susanne Kohl, Britta Baumann, Samuel G. Jacobson, Astrid S. Plomp, Christian P. Hamel, Andreas R. Janecke, Bernd Wissinger

Journal:

Year:

2010

Language:

english

File:

PDF, 454 KB

english, 2010

13

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient adducted thumb–clubfoot syndrome”

Andreas R. Janecke, Jacques U. Baenziger, Thomas Müller, Munis Dündar

Journal:

Year:

2011

Language:

english

File:

PDF, 90 KB

english, 2011

14

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

Barbara Günther, Andrea Steiner, Doris Nekahm-Heis, Klaus Albegger, Patrick Zorowka, Gerd Utermann, Andreas Janecke

Journal:

Year:

2003

Language:

english

File:

PDF, 26 KB

english, 2003

15

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

Jan Hellemans, Philippe Debeer, Michael Wright, Andreas Janecke, Klaus W. Kjaer, Peter C.M. Verdonk, Ravi Savarirayan, Lina Basel, Celia Moss, Johannes Roth, Albert David, Anne De Paepe, Paul Coucke,

Journal:

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

16

A defect in dermatan sulfate biosynthesis results in a generalized connective tissue disorder, Dundar syndrome

Andreas R Janecke, Thomas Müller, Jacques U Baenziger, Munis Dundar

Journal:

Current Opinion in Biotechnology

Year:

2011

Language:

english

File:

PDF, 96 KB

english, 2011

17

The SAMP-/RAMP-hydrazone methodology in asymmetric synthesis

Andreas Job, Carsten F. Janeck, Wolfgang Bettray, René Peters, Dieter Enders

Journal:

Year:

2002

Language:

english

File:

PDF, 2.12 MB

english, 2002

18

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

Kay W. Nolte, Andreas R. Janecke, Matthias Vorgerd, Joachim Weis, J. Michael Schröder

Journal:

Acta Neuropathologica

Year:

2008

Language:

english

File:

PDF, 2.36 MB

english, 2008

19

Refinement of the GINGF3 locus for hereditary gingival fibromatosis

Michael Pampel, Sandra Maier, Alfons Kreczy, Helga Weirich-Schwaiger, Gerd Utermann, Andreas R. Janecke

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 386 KB

english, 2010

20

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated withGJB2mutations – phenotypic spectrum and frequencies ofGJB2mutations in Austria

Andreas R. Janecke, Almut Hirst-Stadlmann, Barbara Günther, Barbara Utermann, Thomas Müller, Judith Löffler, Gerd Utermann, Doris Nekahm-Heis

Journal:

Year:

2002

Language:

english

File:

PDF, 213 KB

english, 2002

21

Mutation analysis in glycogen storage disease type

Andreas R. Janecke, Martin Lindner, Martin Erdel, Ertan Mayatepek, Dorothea Möslinger, Teodor Podskarbi, Friedrich Fresser, Silvia Stöckler-Ipsiroglu, Georg F. Hoffmann, Gerd Utermann

Journal:

Year:

2000

Language:

english

File:

PDF, 63 KB

english, 2000

22

Molecular diagnosis of type 1c glycogen storage disease

A. R. Janecke, Nils U. Bosshard, Ertan Mayatepek, Andreas Schulze, Richard Gitzelmann, Ann Burchell, Claus R. Bartram, Bart Janssen

Journal:

Year:

1999

Language:

english

File:

PDF, 72 KB

english, 1999

23

De novo mutation of the connexin

Andreas R Janecke, Doris Nekahm, Judith Löffler, Almut Hirst-Stadlmann, Thomas Müller, Gerd Utermann

Journal:

Year:

2001

Language:

english

File:

PDF, 18 KB

english, 2001

24

Hypochloremic metabolic alkalosis and failure to thrive: answer

Uwe Querfeld, Silvia Lechner, Andreas R. Janecke

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 60 KB

english, 2011

25

Hypochloremic metabolic alkalosis and failure to thrive: question

Uwe Querfeld, Silvia Lechner, Andreas R. Janecke

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 47 KB

english, 2011

26

CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort

Heinz Zoller, Margit Egg, Ivo Graziadei, Marc Creus, Andreas R. Janecke, Judith Löffler-Ragg, Wolfgang Vogel

Journal:

Wiener klinische Wochenschrift

Year:

2007

File:

PDF, 172 KB

2007

27

Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)

Gerda Hofstetter, Nicole Concin, Christian Marth, Tuula Rinne, Martin Erdel, Andreas Janecke

Journal:

Wiener klinische Wochenschrift

Year:

2008

Language:

english

File:

PDF, 137 KB

english, 2008

28

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?

Robert Gruber, Andreas R. Janecke, Daniela Grabher, Elisabeth Horak, Matthias Schmuth, Peter Lercher

Journal:

Wiener klinische Wochenschrift

Year:

2010

File:

PDF, 198 KB

2010

29

In Vitro Analysis of LIPH Mutations Causing Hypotrichosis Simplex: Evidence Confirming the Role of Lipase H and Lysophosphatidic Acid in Hair Growth

Pasternack, Sandra M, von Kügelgen, Ivar, Müller, Melanie, Oji, Vinzenz, Traupe, Heiko, Sprecher, Eli, Nöthen, Markus M, Janecke, Andreas R, Betz, Regina C

Journal:

The Journal of Investigative Dermatology

Year:

2009

Language:

english

File:

PDF, 918 KB

english, 2009

30

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

De Laet, Corinne, Hübner, Christian A, Meinecke, Peter, Nishimura, Gen, Matsuo, Mari, Lausch, Ekkehart, Janecke, Andreas, Bros, Matthias, Trojandt, Stefanie, Alanay, Yasemin

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 973 KB

english, 2011

31

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Janecke, Andreas R, Thompson, Debra A, Utermann, Gerd, Becker, Christian, Hübner, Christian A, Schmid, Eduard, McHenry, Christina L, Nair, Anita R, Rüschendorf, Franz, Heckenlively, John

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 474 KB

english, 2004

32

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria

Löffler, Judith, Nekahm, Doris, Hirst-Stadlmann, Almut, Günther, Barbara, Menzel, Hans-Jürgen, Utermann, Gerd, Janecke, Andreas R

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 108 KB

english, 2001

33

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

Gruber, Robert, Janecke, Andreas R, Fauth, Christine, Utermann, Gerd, Fritsch, Peter O, Schmuth, Matthias

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

34

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Cecilia Giunta, Nursel H. Elçioglu, Beate Albrecht, Georg Eich, Céline Chambaz, Andreas R. Janecke, Heather Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.49 MB

english, 2008

35

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques U. Baenziger, Lijuan Zhang, Andreas R. Janecke

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.32 MB

english, 2009

36

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymanska, Victor L. Jensen, Andreas R. Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.05 MB

english, 2011

37

Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants

Thomas Böhler, Thomas Krämer, Andreas R Janecke, Georg Friedrich Hoffmann, Otwin Linderkamp

Journal:

Early Human Development

Year:

1999

Language:

english

File:

PDF, 252 KB

english, 1999

38

Rhodopsin mutations in inherited retinal dystrophies and dysfunctions

Andreas Gal, Eckart Apfelstedt-Sylla, Andreas R. Janecke, Eberhart Zrennert

Journal:

Progress in Retinal and Eye Research

Year:

1997

Language:

english

File:

PDF, 2.16 MB

english, 1997

39

Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria

Janecke, Andreas R, Willett-Brozick, Joan E, Karas, Christoph, Hasipek, Metis, Loeffler-Ragg, Judith, Baysal, Bora E

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 307 KB

english, 2010

40

Molecular Genetics of Type 1 Glycogen Storage Disease

Andreas R. Janecke, Ertan Mayatepek, Gerd Utermann

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 62 KB

english, 2001

41

A New, X-linked Endothelial Corneal Dystrophy

Eduard Schmid, Walter Lisch, Wolfgang Philipp, Silvia Lechner, Wolfgang Göttinger, Ursula Schlötzer-Schrehardt, Thomas Müller, Gerd Utermann, Andreas R. Janecke

Journal:

American Journal of Ophthalmology

Year:

2006

Language:

english

File:

PDF, 857 KB

english, 2006

42

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

Robert Gruber, Peter M. Elias, Debra Crumrine, Tzu-Kai Lin, Johanna M. Brandner, Jean-Pierre Hachem, Richard B. Presland, Philip Fleckman, Andreas R. Janecke, Aileen Sandilands, W.H. Irwin McLean, Pet

Journal:

The American Journal of Pathology

Year:

2011

Language:

english

File:

PDF, 2.97 MB

english, 2011

43

Ferroportin disease: A systematic meta-analysis of clinical and molecular findings

Roman Mayr, Andreas R. Janecke, Melanie Schranz, William J.H. Griffiths, Wolfgang Vogel, Antonello Pietrangelo, Heinz Zoller

Journal:

Journal of Hepatology

Year:

2010

Language:

english

File:

PDF, 2.86 MB

english, 2010

44

Corrigendum to “Ferroportin disease: A systematic meta-analysis of clinical and molecular findings” J. Hepatol. 2010 Nov;53(5):941–949

Roman Mayr, Andreas R. Janecke, Melanie Schranz, William J.H. Griffiths, Wolfgang Vogel, Antonello Pietrangelo, Heinz Zoller

Journal:

Journal of Hepatology

Year:

2011

Language:

english

File:

PDF, 337 KB

english, 2011

45

Joubert-like syndrome unlinked to known candidate loci

Andreas R Janecke, Thomas Müller, Ingmar Gassner, Alfons Kreczy, Eduard Schmid, Florian Kronenberg, Barbara Utermann, Gerd Utermann

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 432 KB

english, 2004

46

Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

Andreas R. Janecke, Susanne Dertinger, Uwe-Peter Ketelsen, Lothar Bereuter, Burkhard Simma, Thomas Müller, Wolfgang Vogel, Felix A. Offner

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 578 KB

english, 2004

47

Hypoplasia of Deep Cerebellar Nuclei in Joubert Syndrome

Giorgi Kuchukhidze, Markus Rauchenzauner, Thaddaeus Gotwald, Andreas Janecke, Eugen Trinka

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

48

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Martin Frühwirth, Andreas R. Janecke, Thomas Müller, Victoria E.H. Carlton, Florian Kronenberg, Felix Offner, A.S. Knisely, Silvana Geleff, Eyun J. Song, Burkhard Simma, Alfred Königsrainer, Raimund M

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 8.88 MB

english, 2003

49

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Lars Riff Jensen, Marion Amende, Ulf Gurok, Bettina Moser, Verena Gimmel, Andreas Tzschach, Andreas R. Janecke, Gholamali Tariverdian, Jamel Chelly, Jean-Pierre Fryns, Hilde Van Esch, Tjitske Kleefstr

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 2.11 MB

english, 2005

50

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Christiane Tasse, Stefan Böhringer, Sven Fischer, Hermann-Josef Lüdecke, Beate Albrecht, Denise Horn, Andreas Janecke, Rainer Kling, Rainer König, Birgit Lorenz, Frank Majewski, Elisabeth Maeyens, Pet

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 378 KB

english, 2005

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