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

Human genetics, 2017-03, Vol.136 (3), p.307-320

2017

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

PloS one, 2017-12, Vol.12 (12), p.e0189324-e0189324

2017

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Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18

The Journal of pediatrics, 2013-10, Vol.163 (4), p.1174-1178.e3

2013

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

American journal of medical genetics. Part A, 2005-03, Vol.133A (2), p.128-131

2005

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

American journal of human genetics, 2017-05, Vol.100 (5), p.725-736

2017

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

American journal of medical genetics, 2003-07, Vol.120A (2), p.222-228

2003

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

Seizure (London, England), 2017-08, Vol.50, p.118-120

2017

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

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2294-2299

2015

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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

The journal of clinical endocrinology and metabolism, 2014-10, Vol.99 (10), p.E2051-E2059

2014

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

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.183-191

2017

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

European journal of medical genetics, 2015-11, Vol.58 (11), p.603-607

2015

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

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2376-2381

2015

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Diabetic Ketoacidosis at Diagnosis in Austrian Children: A Population-Based Analysis, 1989-2011

The Journal of pediatrics, 2013-11, Vol.163 (5), p.1484-1488.e1

2013

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

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.290-301

2014

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

Rheumatology (Oxford, England), 2010-06, Vol.49 (6), p.1056-1062

2010

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

Acta Paediatrica, 2011-05, Vol.100 (5), p.780-783

2011

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

European journal of medical genetics, 2008-11, Vol.51 (6), p.573-579

2008

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

European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.757-762

2011

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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, 2010-03, Vol.152A (3), p.665-673

2010

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Klinik und Genetik des Prader-Willi-Syndroms

Klinische Pädiatrie, 2001, Vol.213 (3), p.91-98

Rittinger, O.

2001

Volltextzugriff (PDF)

Quantitative Heterozygotentestung und das therapeutische Dilemma bei Menkes-Syndrom

Klinische Pädiatrie, 2005-09, Vol.217 (5), p.286-290

2005

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

Journal of Pediatric Endocrinology & Metabolism, 2008-06, Vol.21 (6), p.523-532

2008

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Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

European journal of medical genetics, 2005-04, Vol.48 (2), p.97-111

2005

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Malignant astrocytoma arising 10 years after combined treatment of craniopharyngioma

Journal of pediatric endocrinology & metabolism : JPEM, 2003-01, Vol.16 (1), p.97

2003

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A new strategy for the detection of subtelomeric rearrangements

Human genetics, 2001-12, Vol.109 (6), p.576-583

2001

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

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

Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18

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

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

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

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

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

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

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

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

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

Diabetic Ketoacidosis at Diagnosis in Austrian Children: A Population-Based Analysis, 1989-2011

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

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

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

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

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

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

Klinik und Genetik des Prader-Willi-Syndroms

Quantitative Heterozygotentestung und das therapeutische Dilemma bei Menkes-Syndrom

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

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Malignant astrocytoma arising 10 years after combined treatment of craniopharyngioma

A new strategy for the detection of subtelomeric rearrangements

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