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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  25

Motzek, Antje; Knezevic, Jelena; Switzeny, Olivier J. et al.

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

PLOS ONE. Bd. 11. H. 3. 2016




Schmeh, Isabella; Kidszun, Andre; Lausch, Ekkehart et al.

Chest Radiograph as Diagnostic Clue in a Floppy Infant

JOURNAL OF PEDIATRICS. Bd. 177. 2016 S. 324-+


Vona, Barbara; Lechno, Stanislav; Hofrichter, Michaela A. H. et al.

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene

EAR AND HEARING. Bd. 37. H. 4. 2016 S. E238-E246




Bohne, Florian; Langer, David; Martiné, Ursula et al.

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

Clinical epigenetics. Bd. 8. H. 1. S.l.: BioMed Central 2016 Art. 47


Hadzsiev, Kinga; Komlosi, Katalin; Czako, Marta et al.

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype

MOLECULAR CYTOGENETICS. Bd. 9. 2016


Bagheri-Fam, Stefan; Ono, Makoto; Li, Li et al.

Ligand-independent activation of FGFR2c leads to XY sex reversal in humans and mice

CLINICAL ENDOCRINOLOGY. Bd. 84. 2016 S. 29-29



Iqbal, Zafar; Puettmann, Lucia; Musante, Luciana et al.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 24. H. 3. 2016 S. 392-399


Kalkum, Gisela; Pitz, Susanne; Karabul, Nesrin et al.

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

BMC OPHTHALMOLOGY. Bd. 16. 2016


Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien et al.

Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 170. H. 12. 2016 S. 3069-3082


Boppudi, S.; Boegershausen, N.; Hove, H. B. et al.

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

CLINICAL GENETICS. Bd. 90. H. 4. 2016 S. 334-342


Winter, Jennifer; Basilicata, M. Felicia; Stemmler, Marc P. et al.

The MID1 protein is a central player during development and in disease

FRONTIERS IN BIOSCIENCE-LANDMARK. Bd. 21. 2016 S. 664-682


Keilmann, Annerose; Laessig, Anne K.; Pollak-Hainz, Anja et al.

Adenoids of patients with mucopolysaccharidoses demonstrate typical alterations

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. Bd. 79. H. 2. 2015 S. 115-118


Laessig, A. K.; Bartsch, O.; Zechner, U. et al.

Congenital Sensorineural Deafness with Microtia and Michel-Aplasia

LARYNGO-RHINO-OTOLOGIE. Bd. 94. H. 3. 2015 S. 182-183


Xu, Xingbo; Smorag, Lukasz; Nakamura, Toshinobu et al.

Dppa3 expression is critical for generation of fully reprogrammed iPS cells and maintenance of Dlk1-Dio3 imprinting

NATURE COMMUNICATIONS. Bd. 6. 2015


Lelieveld, Irene M.; Böttcher, Anna; Hennermann, Julia B. et al.

Eight-year follow-up of neuropsychiatric symptoms and brain structural changes in Fabry disease

PLoS one. Bd. 10. H. 9. Lawrence, Kan.: PLoS 2015 e0137603


Beck, Michael

Enzyme replacement and gene therapy for mucopolysaccharidoses: current progress and future directions

EXPERT OPINION ON ORPHAN DRUGS. Bd. 3. H. 4. 2015 S. 433-444



Bagheri-Fam, Stefan; Ono, Makoto; Li, Li et al.

FGFR2 mutation in 46, XY sex reversal with craniosynostosis

HUMAN MOLECULAR GENETICS. Bd. 24. H. 23. 2015 S. 6699-6710


Etzold, Anna; Schroeder, Julia C.; Bartsch, Oliver et al.

Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome

FAMILIAL CANCER. Bd. 14. H. 1. 2015 S. 161-165


Umlauf, Volker N.; Coerdt, Wiltrud; Leuschner, Ivo et al.

How to Name Papillary Tumors of the Bladder in Children: Transitional Cell Carcinoma or Papillary Urothelial Neoplasm of Low Malignant Potential?

UROLOGY. Bd. 86. H. 2. 2015 S. 379-383