O. Rittinger

发表

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation

E. Holinski‐Feder, A. Röpke, P. Wieacker, 2005, Neurogenetics.

ADAMTSL4‐associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description

T. Neuhann, E. Blair, A. Riess, 2015, American journal of medical genetics. Part A.

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

H. Hennies, J. Smolle, G. Utermann, 2005, American journal of medical genetics. Part A.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

T. Wieland, T. Strom, H. Prokisch, 2017, European Journal of Human Genetics.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Intranasal insulin may influence motor activities and behaviour in Phelan McDermid Syndrom

O. Rittinger, I. Maxonus, E. Irnberger, 2012 .

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

S. Gallati, L. Biesecker, J. Hurst, 2011, European Journal of Human Genetics.

A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58

R. Stevenson, C. Schwartz, H. Lubs, 2002, Journal of medical genetics.

Polytopic anomalies with agenesis of the lower vertebral column.

E. Zackai, J. Opitz, S. Mundlos, 1999, American journal of medical genetics.

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.

R. Paschke, J. Meiler, M. Eszlinger, 2014, The Journal of clinical endocrinology and metabolism.

Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome

D. Wieczorek, F. Degenhardt, C. Zweier, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Osteopetrosis due to Homozygous Chloride Channel ClCN7 Mutation Mimicking Metabolic Disease with Haematological and Neurological Impairment

A. Schulz, O. Rittinger, D. Furthner, 2009, Klinische Padiatrie.

Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.

A. Kampik, A. Janecke, O. Rittinger, 2005, Ophthalmology.

Screening of patients with Turner syndrome for "hidden" Y-mosaicism.

G. Kronberger, O. Rittinger, G. Fekete, 1999, Klinische Padiatrie.

Clinical, Cytogenetic and Molecular Analysis of Three 46,XX Males

G. Rappold, M. Stopar, O. Rittinger, 1999, Journal of pediatric endocrinology & metabolism : JPEM.

A Turner-like phenotype in a girl with an isodicentric fluorescent Y chromosome mosaicism.

O. Rittinger, W. Muss, E. Plöchl, 1997, Klinische Padiatrie.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

T. Wieland, T. Strom, H. Prokisch, 2016, European Journal of Human Genetics.

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

S. Seal, N. Rahman, I. Temple, 2017, American journal of human genetics.

The changing phenotype in diploid/triploid mosaicism may mimic genetic syndromes with aberrant genomic imprinting: follow up in a 14-year-old girl.

C. Fauth, G. Kronberger, O. Rittinger, 2008, European journal of medical genetics.

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

D. Bonthron, A. Markham, R. Hopkin, 2010, Rheumatology.

Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature

O. Rittinger, C. Wohlmuth, D. Wertaschnigg, 2015, American journal of medical genetics. Part A.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

T. Strom, D. Wieczorek, E. Watrin, 2017, Human Genetics.

Monosomy 1p36--a recently delineated, clinically recognizable syndrome.

M. Speicher, M. Zenker, A. Rauch, 2002, Clinical dysmorphology.

Hepatoblastoma in a 4‐year‐old girl with Fanconi anaemia

D. Schindler, S. Kopic, H. Hanenberg, 2011, Acta paediatrica.

De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature

T. Liehr, O. Rittinger, U. Claussen, 2004, Cytogenetic and Genome Research.

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

Rudolf Glueckert, Anneliese Schrott-Fischer, Felix Beckmann, 2010, American journal of medical genetics. Part A.

Malignant Glioma as a Secondary Malignant Neoplasm after Radiation Therapy for Craniopharyngioma. Report of a Case and Review of Reported Cases

O. Rittinger, H. Kogelnik, W. Piotrowski, 2001, Oncology Research and Treatment.

A new strategy for the detection of subtelomeric rearrangements

R. Eils, K. Saracoglu, L. Kearney, 2001, Human Genetics.

Malignant Astrocytoma Arising 10 Years After Combined Treatment of Craniopharyngioma

O. Rittinger, M. Kranzinger, N. Jones, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

A. Green, C. Fauth, C. Kim, 2013, The Journal of pediatrics.

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

G. Kronberger, O. Rittinger, D. Kotzot, 2015, European journal of medical genetics.

X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

A. Ballabio, R. Winter, D. Chitayat, 2003, American journal of medical genetics. Part A.

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33).

A. Meindl, I. Rost, O. Rittinger, 1996, American journal of medical genetics.

Long-term Follow-up of Patients with Congenital Hyperinsulinism in Austria

M. Feucht, E. Schober, O. Rittinger, 2008, Journal of pediatric endocrinology & metabolism : JPEM.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

B. Ertl-Wagner, H. Bolz, E. Boltshauser, 2016, European journal of medical genetics.

Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.

O. Rittinger, J. Murken, C. Lenski, 1999, American journal of medical genetics.

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure

M. Tekin, I. Mihalek, E. Gussoni, 2017, PloS one.

Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome.

O. Rittinger, G. Hasenöhrl, P. Weiss-Wichert, 1999, Clinical Dysmorphology.

Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion

W. Sperl, O. Rittinger, Raphael J. Morscher, 2017, Seizure.

ADAMTSL4‐associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description

T. Neuhann, E. Blair, A. Riess, 2015, American journal of medical genetics. Part A.