FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Andreas Janecke

Research Profile

Physiology

Concepts & Ideas

Procedures

DNA Mutational Analysis

Living Beings

Disorders

Geographic Areas

Austria

Chemicals & Drugs

Genes & Molecular Sequences

Recessive Genes

Co-author Network

Publications

TOP 3
Johannes Hofer; Andreas R Janecke; Verena Jeller; Therese C Jungraithmayr; Michael L Moritz; Miriam Pawlik; Barbara Petzelberger; Magdalena Riedl; Alejandra Rosales; Michael van Husen; Udo Vester; Reinhard Wurzner; L B Zimmerhackl; Gerard Cortina; Bettina Gadner; Thomas Giner; Carola J Haindl
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
Julia Vodopiutz; Andrew O M Wilkie; Heinz Zoller; Richard Arnhold; Christoph Aufricht; Aimée L Fenwick; Thomas Müller; Arnold Pollak; Daniela Prayer; Andreas Repa; Max Schmid; Andreas R Janecke
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
Markus Ritter; Ursula Schmidt-Erfurth; Julia Vodopiutz; Silvia Lechner; Elisabeth Moser; Andreas R Janecke
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Andreas Janecke (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Johannes Hofer; Andreas R Janecke; Verena Jeller; Therese C Jungraithmayr; Michael L Moritz; Miriam Pawlik; Barbara Petzelberger; Magdalena Riedl; Alejandra Rosales; Michael van Husen; Udo Vester; Reinhard Wurzner; L B Zimmerhackl; Gerard Cortina; Bettina Gadner; Thomas Giner; Carola J Haindl
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
Clinical journal of the American Society of Nephrology : CJASN 2013;8(3):407-15.
2013: Julia Vodopiutz; Andrew O M Wilkie; Heinz Zoller; Richard Arnhold; Christoph Aufricht; Aimée L Fenwick; Thomas Müller; Arnold Pollak; Daniela Prayer; Andreas Repa; Max Schmid; Andreas R Janecke
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
The Journal of pediatrics 2013;162(3):612-7.
2013: Markus Ritter; Ursula Schmidt-Erfurth; Julia Vodopiutz; Silvia Lechner; Elisabeth Moser; Andreas R Janecke
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
The British journal of ophthalmology 2013;97(2):169-73.
2013: Matthias Schmuth; Anna Schossig; Johannes Zschocke; Christine Fauth; Andreas R Janecke; Verena Martinz; Robert Gruber
Inherited ichthyoses/generalized Mendelian disorders of cornification.
European journal of human genetics : EJHG 2013;21(2):123-33.
2013: Armin Finkenstedt; Andreas R Janecke; Daniela Karall; Johannes A Mayr; David Nachbaur; Melanie Schranz; Wolfgang Vogel; Sylvia Bösch; Sabine Scholl Bürgi; Mathias Drach; Christian Ensinger; Heinz Zoller
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.
JIMD reports 2013;10():41-4.
2012: Eva Morava; Wolfgang M Schmidt; Sylvia Stockler; Jolanta Sykut-Cegielska; Julia Vodopiutz; Jolanta Wierzba; Zong H Zhang; Maciej Adamowicz; Olaf Bodamer; Chike B Item; Andreas R Janecke; Silvia Lechner; Dirk J Lefeber; Ludwig Lehle; Ivana Mihalek; Ron A Wevers
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Pediatrics 2012;130(4):e1034-9.
2012: Carina Fischer; Michael Freilinger; Andreas R Janecke; Poupak Javaher-Haghighi; Wolfgang N Löscher; Lea Papić; Thomas R Pieber; Barbara Plecko; Christian Rauscher; Maria Schabhüttl; Jan Senderek; Slave Trajanoski; Christian Windpassinger; Mine Arslan-Kirchner; Günter Bernert; Michaela Auer-Grumbach
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Journal of neurology 2012;259(3):515-23.
2011: Silvia Lechner; Peter Lewindon; Walter Mihatsch; Thomas Müller; AD Phillips; Uwe Querfeld; Frank M Ruemmele; Andreas Zankl; Peter Heinz-Erian; Wolf-Dietrich Huber; Ekkehart Lausch; Andreas R Janecke
Significance of molecular testing for congenital chloride diarrhea.
Journal of pediatric gastroenterology and nutrition 2011;53(1):48-54.
2011: Michaela Auer-Grumbach; Martin Weger; Regina Fink-Puches; Eleonore Fröhlich; Piet Auer-Grumbach; Laila El-Shabrawi-Caelen; Maria Schabhüttl; Christian Windpassinger; Jan Senderek; Herbert Budka; Slave Trajanoski; Andreas R Janecke; Anton Haas; Dieter Metze; Thomas R Pieber; Lea Papić; Christian Guelly
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain : a journal of neurology 2011;134(Pt 6):1839-52.
2011: Roman Mayr; William J H Griffiths; Martin Hermann; Ian McFarlane; Halsall David; Armin Finkenstedt; Andrew Douds; Susan E Davies; Andreas R Janecke; Wolfgang Vogel; Timothy M Cox; Heinz Zoller
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
Gastroenterology 2011;140(7):2056-63, 2063.e1.
2011: Uwe Querfeld; Silvia Lechner; Andreas R Janecke
Hypochloremic metabolic alkalosis and failure to thrive: question.
Pediatric nephrology (Berlin, Germany) 2011;26(6):893.
2011: Uwe Querfeld; Silvia Lechner; Andreas R Janecke
Hypochloremic metabolic alkalosis and failure to thrive: answer.
Pediatric nephrology (Berlin, Germany) 2011;26(6):895-6.
2011: 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; Peter O Fritsch; Michael Mildner; Erwin Tschachler; Matthias Schmuth
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.
The American journal of pathology 2011;178(5):2252-63.
2011: Lea Papić; Dirk Fischer; Slave Trajanoski; Romana Höftberger; Carina Fischer; Thomas Ströbel; Wolfgang M Schmidt; Reginald E Bittner; Maria Schabhüttl; Karin Gruber; Thomas R Pieber; Andreas R Janecke; Michaela Auer-Grumbach
SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
European journal of medical genetics 2011;54(3):214-9.
2011: Andreas R Janecke; Jacques U Baenziger; Thomas Müller; Munis Dündar
Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".
Human mutation 2011;32(4):484-5.
2011: Serena Nik-Zainal; Reiner Strick; Mekayla Storer; Ni Huang; Roland Rad; Lionel Willatt; Tomas Fitzgerald; Vicki Martin; Richard Sandford; Nigel P Carter; Andreas R Janecke; Stefan P Renner; Patricia G Oppelt; Peter Oppelt; Christine Schulze; Sara Brucker; Matthew Hurles; Matthias W Beckmann; Pamela L Strissel; Charles Shaw-Smith
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.
Journal of medical genetics 2011;48(3):197-204.
2011: Christian Guelly; Peng-Peng Zhu; Lea Leonardis; Lea Papić; Janez Zidar; Maria Schabhüttl; Heimo Strohmaier; Joachim Weis; Tim M Strom; Jonathan Baets; Jan Willems; Peter De Jonghe; Mary M Reilly; Eleonore Fröhlich; Martina Hatz; Slave Trajanoski; Thomas R Pieber; Andreas R Janecke; Craig Blackstone; Michaela Auer-Grumbach
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
American journal of human genetics 2011;88(1):99-105.
2010: Armin Finkenstedt; Elisabeth Wolf; Elmar Höfner; Bethina Isasi Gasser; Sylvia Bösch; Rania Bakry; Marc Creus; Christian Kremser; Michael Schocke; Milan Theurl; Patrizia L Moser; Melanie Schranz; Guenther Bonn; Werner Poewe; Wolfgang Vogel; Andreas R Janecke; Heinz Zoller
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.
Journal of hepatology 2010;53(6):1101-7.
2010: Roman Mayr; Andreas R Janecke; Melanie Schranz; William J H Griffiths; Wolfgang Vogel; Antonello Pietrangelo; Heinz Zoller
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
Journal of hepatology 2010;53(5):941-9.
2010: Robert Gruber; Andreas R Janecke; Daniela Grabher; Elisabeth Horak; Matthias Schmuth; Peter Lercher
Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?
Wiener klinische Wochenschrift 2010;122(19-20):551-7.
2010: Katja Koeppen; Peggy Reuter; Thomas Ladewig; Susanne Kohl; Britta Baumann; Samuel G Jacobson; Astrid S Plomp; Christian P Hamel; Andreas R Janecke; Bernd Wissinger
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
Human mutation 2010;31(7):830-9.
2010: Frank M Ruemmele; Thomas Müller; Natalia Schiefermeier; Hannes L Ebner; Silvia Lechner; Kristian Pfaller; Cornelia E Thöni; Olivier Goulet; Florence Lacaille; Jacques Schmitz; Virginie Colomb; Frédérique Sauvat; Yann Revillon; Danielle Canioni; Nicole Brousse; Genevieve de Saint-Basile; Juliette Lefebvre; Peter Heinz-Erian; Axel Enninger; Gerd Utermann; Michael W Hess; Andreas R Janecke; Lukas A Huber
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Human mutation 2010;31(5):544-51.
2010: Robert Gruber; Andreas R Janecke; Daniela Grabher; Aileen Sandilands; Christine Fauth; Matthias Schmuth
Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis.
Journal of dermatological science 2010;58(1):72-5.
2010: Rudolf Glueckert; Helge Rask-Andersen; Consolato Sergi; Joachim Schmutzhard; Bert Mueller; Felix Beckmann; Olaf Rittinger; Lies Hoefsloot; Anneliese Schrott-Fischer; Andreas R Janecke
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.
American journal of medical genetics. Part A 2010;152A(3):665-73.
2010: Andreas R Janecke; Joan E Willett-Brozick; Christoph Karas; Metis Hasipek; Judith Loeffler-Ragg; Bora E Baysal
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria.
Journal of human genetics 2010;55(3):182-5.
2010: Michael Pampel; Sandra Maier; Alfons Kreczy; Helga Weirich-Schwaiger; Gerd Utermann; Andreas R Janecke
Refinement of the GINGF3 locus for hereditary gingival fibromatosis.
European journal of pediatrics 2010;169(3):327-32.
2010: Lijuan Zhang; Thomas Müller; Jacques U Baenziger; Andreas R Janecke
Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase.
Progress in molecular biology and translational science 2010;93():289-307.
2010: Lars R Jensen; Heinz Bartenschlager; Sinitdhorn Rujirabanjerd; Andreas Tzschach; Astrid Nümann; Andreas R Janecke; Ralf Spörle; Sigmar Stricker; Martine Raynaud; John Nelson; Anna Hackett; Jean-Pierre Fryns; Jamel Chelly; Arjan Pm de Brouwer; Ben Hamel; Jozef Gecz; Hans-Hilger Ropers; Andreas W Kuss
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
PathoGenetics 2010;3(1):2.
2010: Mamata Sivagnanam; Andreas R Janecke; Thomas Müller; Peter Heinz-Erian; Sharon Taylor; Lynne M Bird
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.
Clinical dysmorphology 2010;19(1):48.
2010: Benedikt Weber; Anton H Schwabegger; Julia Vodopiutz; Andreas R Janecke; Rosemarie Forstner; Horst Steiner
Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.
Fetal diagnosis and therapy 2010;27(1):51-6.
2009: 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
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
American journal of human genetics 2009;85(6):873-82.
2009: Sandra M Pasternack; Ivar von Kügelgen; Melanie Müller; Vinzenz Oji; Heiko Traupe; Eli Sprecher; Markus M Nöthen; Andreas R Janecke; Regina C Betz
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.
The Journal of investigative dermatology 2009;129(12):2772-6.
2009: Petra Seemann; Anja Brehm; Jana König; Carsten Reissner; Sigmar Stricker; Pia Kuss; Julia Haupt; Stephanie Renninger; Joachim Nickel; Walter Sebald; Jay C Groppe; Frank Plöger; Jens Pohl; Mareen Schmidt-von Kegler; Maria Walther; Ingmar Gassner; Cristina Rusu; Andreas R Janecke; Katarina Dathe; Stefan Mundlos
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
PLoS genetics 2009;5(11):e1000747.
2009: Vera Grossmann; Doris Müller; Wilfried Müller; Friedrich Fresser; Martin Erdel; Andreas R Janecke; Johannes Zschocke; Gerd Utermann; Dieter Kotzot
"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.
American journal of medical genetics. Part A 2009;149A(11):2522-6.
2009: Gabriel Miltenberger-Miltenyi; Thomas Schwarzbraun; Wolfgang N Löscher; Julia Wanschitz; Christian Windpassinger; Hans-Christoph Duba; Rainer Seidl; Gerhard Albrecht; Helga Weirich-Schwaiger; Heinz Zoller; Gerd Utermann; Michaela Auer-Grumbach; Andreas R Janecke
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
European journal of human genetics : EJHG 2009;17(9):1154-9.
2009: Karl Lhotta; Andreas R Janecke; Johanna Scheiring; Barbara Petzlberger; Thomas Giner; Verena Fally; Reinhard Wurzner; Lothar B Zimmerhackl; Gert Mayer; Veronique Fremeaux-Bacchi
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
Clinical journal of the American Society of Nephrology : CJASN 2009;4(8):1356-62.
2009: Giorgi Kuchukhidze; Markus Rauchenzauner; Thaddaeus Gotwald; Andreas R Janecke; Eugen Trinka
Hypoplasia of deep cerebellar nuclei in joubert syndrome.
Pediatric neurology 2009;40(6):474-6.
2009: Peter Heinz-Erian; Thomas Müller; Birgit Krabichler; Melanie Schranz; Christian Becker; Franz Rüschendorf; Peter Nürnberg; Bernard Rossier; Mihailo Vujic; Ian W Booth; Christer Holmberg; Cisca Wijmenga; Giedre Grigelioniene; C M Frank Kneepkens; Stefan Rosipal; Martin Mistrik; Matthias Kappler; Laurent Michaud; Ludwig-Christoph Dóczy; Victoria Mok Siu; Marie Krantz; Heinz Zoller; Gerd Utermann; Andreas R Janecke
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
American journal of human genetics 2009;84(2):188-96.
2009: Jens Nürnberger; Thomas Philipp; Oliver Witzke; Anabelle Opazo Saez; Udo Vester; Hideo Andreas Baba; Andreas Kribben; Lothar Bernd Zimmerhackl; Andreas R Janecke; Mato Nagel; Michael Kirschfink
Eculizumab for atypical hemolytic-uremic syndrome.
The New England journal of medicine 2009;360(5):542-4.
2008: Kay W Nolte; Andreas R Janecke; Matthias Vorgerd; Joachim Weis; J Michael Schröder
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.
Acta neuropathologica 2008;116(5):491-506.
2008: Thomas Müller; Michael W Hess; Natalia Schiefermeier; Kristian Pfaller; Hannes L Ebner; Peter Heinz-Erian; Hannes Ponstingl; Joachim Partsch; Barbara Röllinghoff; Henrik Köhler; Thomas Berger; Henning Lenhartz; Barbara Schlenck; Roderick J Houwen; Christopher J Taylor; Heinz Zoller; Silvia Lechner; Olivier Goulet; Gerd Utermann; Frank M Ruemmele; Lukas A Huber; Andreas R Janecke
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Nature genetics 2008;40(10):1163-5.
2008: Peter Heinz-Erian; Michaela Oberauer; Nikolaus Neu; Thomas Müller; Sabine Scholl-Bürgi; Josef Hager; Klaus Pittschieler; Andreas R Janecke
A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.
Journal of pediatric gastroenterology and nutrition 2008;47(3):363-6.
2008: 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
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
American journal of human genetics 2008;82(6):1290-305.
2008: Michaela Auer-Grumbach; C Fischer; L Papić; E John; Barbara Plecko; R E Bittner; G Bernert; T R Pieber; G Miltenberger; R Schwarz; Christian Windpassinger; F Grill; Vincent Timmerman; M R Speicher; Andreas R Janecke
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics 2008;39(1):33-8.
2008: Gerda Hofstetter; Nicole Concin; Christian Marth; Tuula Rinne; Martin Erdel; Andreas R Janecke
Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).
Wiener klinische Wochenschrift 2008;120(13-14):435-9.
2007: Barbara Rohkamm; Mary M Reilly; Hanns Lochmüller; Beate Schlotter-Weigel; Nina Barisic; Ludger Schöls; Garth Nicholson; Davide Pareyson; Matilde Laurà; Andreas R Janecke; Gabriel Miltenberger-Miltenyi; Elisabeth John; Carina Fischer; Franz Grill; William Wakeling; Mary Davis; Thomas R Pieber; Michaela Auer-Grumbach
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Journal of the neurological sciences 2007;263(1-2):100-6.
2007: John H Fish; Peter Klein-Weigel; Matthias Biebl; Andreas R Janecke; Thomas Tauscher; Gustav Fraedrich
Systematic screening and treatment evaluation of hereditary neck paragangliomas.
Head & neck 2007;29(9):864-73.
2007: Gabriel Miltenberger-Miltenyi; Andreas R Janecke; Julia Wanschitz; Vincent Timmerman; Christian Windpassinger; Michaela Auer-Grumbach; Wolfgang N Löscher
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Archives of neurology 2007;64(7):966-70.
2007: Aileen Sandilands; Ana Terron-Kwiatkowski; Peter R Hull; Gráinne M O'Regan; Timothy H Clayton; Rosemarie M Watson; Thomas Carrick; Alan T Evans; Haihui Liao; Yiwei Zhao; Linda E Campbell; Matthias Schmuth; Robert Gruber; Andreas R Janecke; Peter M Elias; Maurice A M van Steensel; Ivo Nagtzaam; Michel van Geel; Peter M Steijlen; Colin S Munro; Daniel G Bradley; Colin N A Palmer; Frances J D Smith; W H Irwin McLean; Alan D Irvine
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Nature genetics 2007;39(5):650-4.
2007: Andreas Schuster; Andreas R Janecke; Robert Wilke; Eduard Schmid; Debra A Thompson; Gerd Utermann; Bernd Wissinger; Eberhart Zrenner; Andreas Gal
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Investigative ophthalmology & visual science 2007;48(4):1824-31.
2007: Robert Gruber; Andreas R Janecke; Christine Fauth; Gerd Utermann; Peter O Fritsch; Matthias Schmuth
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.
European journal of human genetics : EJHG 2007;15(2):179-84.
2007: Heinz Zoller; Margit Egg; Ivo W Graziadei; Marc Creus; Andreas R Janecke; Judith Löffler-Ragg; Wolfgang Vogel
CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort.
Wiener klinische Wochenschrift 2007;119(17-18):527-33.
2006: Eduard Schmid; Walter Lisch; Wolfgang Philipp; Silvia Lechner; Wolfgang Göttinger; Ursula Schlötzer-Schrehardt; Thomas Müller; Gerd Utermann; Andreas R Janecke
A new, X-linked endothelial corneal dystrophy.
American journal of ophthalmology 2006;141(3):478-487.
2006: Jan Hellemans; Philippe Debeer; Michael Wright; Andreas R Janecke; Klaus W Kjaer; Peter C M Verdonk; Ravi Savarirayan; Lina Basel; Celia Moss; Johannes Roth; Albert David; Anne De Paepe; Paul Coucke; Geert R Mortier
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
Human mutation 2006;27(3):290.
2005: Debra A Thompson; Andreas R Janecke; Jessica Lange; Kecia L Feathers; Christian A Hübner; Christina L McHenry; David Wayne Stockton; Gabriele Rammesmayer; James R Lupski; Guillermo Antinolo; Carmen Ayuso; Montserrat Baiget; Peter Gouras; John R Heckenlively; Anneke I den Hollander; Samuel G Jacobson; Richard A Lewis; Paul Sieving; Bernd Wissinger; Suzanne Yzer; Eberhart Zrenner; Gerd Utermann; Andreas Gal
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Human molecular genetics 2005;14(24):3865-75.
2005: Christiane Tasse; Stefan Boehringer; Sven Fischer; Hermann-Josef Lüdecke; Beate Albrecht; Denise Horn; Andreas R Janecke; Rainer Kling; Rainer König; Birgit Lorenz; Frank Majewski; Elisabeth Maeyens; Peter Meinecke; Beate Mitulla; Christopher Mohr; Monika Preischl; Horst Umstadt; Juergen Kohlhase; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
European journal of medical genetics 2005;48(4):397-411.
2005: A Schuster; Nicole Weisschuh; Herbert Jägle; Dorothea Besch; Andreas R Janecke; H Zierler; Sabine Tippmann; Eberhart Zrenner; Bernd Wissinger
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
The British journal of ophthalmology 2005;89(10):1258-64.
2005: Andreas R Janecke; Hans Christian Hennies; Barbara Günther; Gabriele Gansl; Josef Smolle; Elisabeth M Messmer; Gerd Utermann; Olaf Rittinger
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
American journal of medical genetics. Part A 2005;133A(2):128-31.
2005: Elisabeth M Messmer; Kenneth R Kenyon; O Rittinger; Andreas R Janecke; Anselm Kampik
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
Ophthalmology 2005;112(2):e1-6.
2005: 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 Kleefstra; Ben Hamel; Claude Moraine; Jozef Gecz; Gillian Turner; Richard Reinhardt; Vera Kalscheuer; Hans-Hilger Ropers; Steffen Lenzner
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
American journal of human genetics 2005;76(2):227-36.
2005: Gabriel Miltenberger-Miltenyi; L Szonyi; L Balogh; Gerd Utermann; Andreas R Janecke
Mutation spectrum of type I glycogen storage disease in Hungary.
Journal of inherited metabolic disease 2005;28(6):939-44.
2004: Andreas R Janecke; Susanne Dertinger; Uwe-Peter Ketelsen; Lothar Bereuter; Burkhard Simma; Thomas Müller; Wolfgang Vogel; Felix Offner
Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.
The Journal of pediatrics 2004;145(5):705-9.
2004: Andreas R Janecke; Debra A Thompson; Gerd Utermann; Christian Becker; Christian A Hübner; Eduard Schmid; Christina L McHenry; Anita R Nair; Franz Rüschendorf; John R Heckenlively; Bernd Wissinger; Peter Nürnberg; Andreas Gal
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Nature genetics 2004;36(8):850-4.
2004: Andreas R Janecke; Thomas Müller; Ingmar Gassner; Alfons Kreczy; Eduard Schmid; Florian Kronenberg; Barbara Utermann; Gerd Utermann
Joubert-like syndrome unlinked to known candidate loci.
The Journal of pediatrics 2004;144(2):264-9.
2003: Barbara Günther; Andrea Steiner; Doris Nekahm-Heis; Klaus Albegger; Patrick Zorowka; Gerd Utermann; Andreas R Janecke
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.
Human mutation 2003;22(2):180.
2003: Martin Frühwirth; Andreas R Janecke; Thomas Müller; Victoria E H Carlton; Florian Kronenberg; Felix Offner; Alex S Knisely; Silvana Geleff; Eyun J Song; Burkhard Simma; Alfred Königsrainer; Raimund Margreiter; CB van Der Hagen; Kristin Louise Eiklid; Oystein Aagenaes; Laura N Bull; Helmut Ellemunter
Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
The Journal of pediatrics 2003;142(4):441-7.
2003: Thomas Müller; Bart van De Sluis; Alexandra Zhernakova; Ellen van Binsbergen; Andreas R Janecke; Ashish Bavdekar; Anand Pandit; Helga Weirich-Schwaiger; Heiko Witt; Helmut Ellemunter; Johann Deutsch; Helmut Denk; Wilfried Müller; Irmin Sternlieb; M Stuart Tanner; Cisca Wijmenga
The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.
Journal of hepatology 2003;38(2):164-8.
2003: Judith Loeffler; Elisabeth Soelder; Martin Erdel; Barbara Utermann; Andreas R Janecke; Hans-Christoph Duba; Gerd Utermann
Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.
American journal of medical genetics. Part A 2003;116A(3):290-4.
2002: Andreas R Janecke; Almut Hirst-Stadlmann; Barbara Günther; Barbara Utermann; Thomas Müller; Jürgen Löffler; Gerd Utermann; Doris Nekahm-Heis
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Human genetics 2002;111(2):145-53.
2002: Benigna von Brederlow; Hanno Bolz; Andreas R Janecke; Alicia La O Cabrera; Günther Rudolph; Birgit Lorenz; Eberhard Schwinger; Andreas Gal
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
Human mutation 2002;19(3):268-73.
2001: Hans van Bokhoven; Ben C J Hamel; Michael Bamshad; Eugenio Sangiorgi; Fiorella Gurrieri; Pascal Duijf; Kaate R J Vanmolkot; Ellen van Beusekom; Sylvia van Beersum; Jacopo Celli; Gerard F M Merkx; R Tenconi; Jean-Pierre Fryns; Alain Verloes; Ruth Newbury-Ecob; A Raas-Rotschild; Frank Majewski; F A Beemer; Andreas R Janecke; David Chitayat; G Crisponi; Hulya Kayserili; J R Yates; Giovanni Neri; Han G Brunner
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
American journal of human genetics 2001;69(3):481-92.
2001: Edda Haberlandt; Jürgen Löffler; Almut Hirst-Stadlmann; B Stöckl; W Judmaier; H Fischer; P Heinz-Erian; T Müller; Gerd Utermann; R J Smith; Andreas R Janecke
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.
Journal of medical genetics 2001;38(6):405-9.
2001: Andreas R Janecke; E Mayatepek; Gerd Utermann
Molecular genetics of type 1 glycogen storage disease.
Molecular genetics and metabolism 2001;73(2):117-25.
2001: Andreas R Janecke; Karin M Unsinn; Alfons Kreczy; I Baldissera; Ingmar Gassner; N Neu; G Utermann; T Müller
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family.
Journal of medical genetics 2001;38(4):265-9.
2001: Andreas R Janecke; D Nekahm; Jürgen Löffler; Almut Hirst-Stadlmann; Thomas Müller; Gerd Utermann
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
Human genetics 2001;108(3):269-70.
2001: Jürgen Löffler; D Nekahm; Almut Hirst-Stadlmann; Barbara Günther; HJ Menzel; Gerd Utermann; Andreas R Janecke
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
European journal of human genetics : EJHG 2001;9(3):226-30.
2000: Thomas Müller; Cisca Wijmenga; AD Phillips; Andreas R Janecke; R H Houwen; H Fischer; Helmut Ellemunter; Martin Frühwirth; Felix Offner; S Hofer; Wilfried Müller; I W Booth; Peter Heinz-Erian
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.
Gastroenterology 2000;119(6):1506-13.
2000: Andreas R Janecke; M Lindner; Martin Erdel; E Mayatepek; Dorothea Möslinger; T Podskarbi; Friedrich Fresser; Sylvia Stöckler-Ipsiroglu; G F Hoffmann; Gerd Utermann
Mutation analysis in glycogen storage disease type 1 non-a.
Human genetics 2000;107(3):285-9.