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Verleihung des österreichischen Ehrenkreuzes für Wissenschaft und Kunst erster Klasse für ihre wissenschaftlichen Verdienste um die Tumorzytogenetik und Tumorgenetik an Frau Prof. Dr. Christa Fonatsch

Medizinische Genetik, 2024-06, Vol.36 (2), p.139-140

Rehder, Helga

2024

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

American journal of human genetics, 2016-09, Vol.99 (3), p.711-719

2016

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Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.57-57, Article 57

2023

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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case

Orphanet journal of rare diseases, 2024-03, Vol.19 (1), p.114-114, Article 114

2024

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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.101-110

2022

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Dilated, Arrhythmogenic Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Due to the Emerin Splice-Site Mutation c.449 + 1G>A

Cardiology, 2015-01, Vol.130 (1), p.48-51

2015

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Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

Bone Reports, 2021-04, Vol.14, p.100851, Article 100851

2021

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Hereditary Tumors: From Genes to Clinical Consequences

1, 2009

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Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX

Journal of bone and mineral research, 2021-06, Vol.36 (6), p.1077-1087

2021

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Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases

Geburtshilfe und Frauenheilkunde, 2017-05, Vol.77 (5), p.495-507

2017

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History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1301-1324

2023

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Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1694-1697

2017

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Genetic counselling

Wiener medizinische Wochenschrift, 2005-06, Vol.155 (11-12), p.249-257

Rehder, Helga

2005

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BRCA2 Germline Mutations in Familial Pancreatic Carcinoma

JNCI : Journal of the National Cancer Institute, 2003-02, Vol.95 (3), p.214-221

2003

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Hereditary Tumors

1. Aufl., 2009

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Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases

Geburtshilfe und Frauenheilkunde, 2017-05, Vol.77 (5), p.495-507

2017

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Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil?

Obstetrics and gynecology (New York. 1953), 2008-02, Vol.111 (2 Pt 2), p.483-486

2008

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Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1559-1568

2018

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Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

European journal of human genetics : EJHG, 2011-11, Vol.19 (11), p.1133-1137

2011

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Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Molecular syndromology, 2019-01, Vol.9 (6), p.287-294

2019

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Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. - Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

Prenatal diagnosis, 2013-01, Vol.33 (1), p.75-80

2013

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Duplication Dup(1)(q32q44) Detected by Comparative Genomic Hybridization (CGH): Further Delineation of Trisomies 1q

Fetal diagnosis and therapy, 2001-09, Vol.16 (5), p.265-273

2001

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Genetic causes of mental retardation

Wiener medizinische Wochenschrift, 2005-06, Vol.155 (11-12), p.258-267

2005

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Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity

Prenatal diagnosis, 2012-02, Vol.32 (2), p.173-179

2012

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Verleihung des österreichischen Ehrenkreuzes für Wissenschaft und Kunst erster Klasse für ihre wissenschaftlichen Verdienste um die Tumorzytogenetik und Tumorgenetik an Frau Prof. Dr. Christa Fonatsch

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Dilated, Arrhythmogenic Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Due to the Emerin Splice-Site Mutation c.449 + 1G>A

Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

Hereditary Tumors: From Genes to Clinical Consequences

Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX

Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus

Genetic counselling

BRCA2 Germline Mutations in Familial Pancreatic Carcinoma

Hereditary Tumors

Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases

Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil?

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. - Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

Duplication Dup(1)(q32q44) Detected by Comparative Genomic Hybridization (CGH): Further Delineation of Trisomies 1q

Genetic causes of mental retardation

Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity

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