Publications by authors named "Olaf Rittinger"

Claim this Profile
A
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
Christina Y Hung, Barbara Volkmar, James D Baker, Johann W Bauer, Emanuela Gussoni, Olaf Rittinger

PLoS One· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.
Raphael Johannes Morscher, Christian Rauscher, Wolfgang Sperl, Olaf Rittinger

Seizure· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Katrina Tatton-Brown, Chey Loveday, Shawn Yost, Matthew Clarke, Emma Ramsay, Olaf Rittinger

Am J Hum Genet· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Ilaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, Sara Ruiz Gil, Ingrid Bader, Olaf Rittinger

Hum Genet· March 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Olaf Rittinger

Eur J Hum Genet· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.
Olaf Rittinger, Birgit Krabichler, Gabriela Kronberger, Dieter Kotzot

Eur J Med Genet· November 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.
Iris Wieser, Christoph Wohlmuth, Olaf Rittinger, Thorsten Fischer, Dagmar Wertaschnigg

Am J Med Genet A· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Teresa M Neuhann, Annette Stegerer, Angelika Riess, Edward Blair, Thomas Martin, Olaf Rittinger

Am J Med Genet A· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.
Holger Jaeschke, Joerg Schaarschmidt, Markus Eszlinger, Sandra Huth, Rudolf Puttinger, Olaf Rittinger

J Clin Endocrinol Metab· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Christiane Zweier, Olaf Rittinger, Ingrid Bader, Siren Berland, Trevor Cole

Am J Med Genet C Semin Med Genet· September 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
Ana Spreiz, Roberta S Guilherme, Claudio Castellan, Andrew Green, Olaf Rittinger

J Pediatr· October 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, Maria Kirchhoff, Flemming Skovby, Olaf Rittinger

Eur J Hum Genet· July 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
Sascha Kopic, Katharina Eirich, Beatrice Schuster, Helmut Hanenberg, Raymonda Varon-Mateeva, Olaf Rittinger

Acta Paediatr· May 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
Christine P Diggle, Ian M Carr, Emanuel Zitt, Katie Wusik, Robert J Hopkin, Olaf Rittinger

Rheumatology (Oxford)· June 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
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, Olaf Rittinger

Am J Med Genet A· March 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl.
Olaf Rittinger, Gabriela Kronberger, Andrea Pfeifenberger, Dieter Kotzot, Christine Fauth

Eur J Med Genet· March 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term follow-up of patients with congenital hyperinsulinism in Austria.
Saadet Mercimek-Mahmutoglu, Birgit Rami, Martha Feucht, Marion Herle, Olaf Rittinger

J Pediatr Endocrinol Metab· June 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Christiane Zweier, Christian T Thiel, Andreas Dufke, Yanick J Crow, Peter Meinecke, Olaf Rittinger

Eur J Med Genet· September 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
Andreas R Janecke, Hans Christian Hennies, Barbara Günther, Gabriele Gansl, Josef Smolle, Olaf Rittinger

Am J Med Genet A· March 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
Ilse Wieland, Julia Sabathil, Anne Ostendorf, Olaf Rittinger, Albrecht Röpke

Neurogenetics· February 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
X
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
Francesca De Falco, Silvia Cainarca, Grazia Andolfi, Rosa Ferrentino, Caterina Berti, Olaf Rittinger

Am J Med Genet A· July 2003

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis