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The genomic and clinical landscape of fetal akinesia

Genetics in medicine, 2020-03, Vol.22 (3), p.511-523

2020

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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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Correction: The genomic and clinical landscape of fetal akinesia

Genetics in medicine, 2020-08, Vol.22 (8), p.1426-1428

2020

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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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Die Komplexität der SARS-CoV-2-Infektion im klinischen Alltag der Geburtshilfe – Auseinandersetzung anhand eines Fallbeispiels

Zeitschrift für Geburtshilfe und Neonatologie, 2022-12, Vol.226 (6), p.416-421

2022

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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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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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Actin isoform expression patterns in adult extracardiac and cardiac rhabdomyomas indicate a different cell of origin

Virchows Archiv : an international journal of pathology, 2017-03, Vol.470 (3), p.285-290

2017

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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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The genomic and clinical landscape of fetalakinesia

Genetics in medicine, 2020-03, Vol.22 (3), p.511-523

2020

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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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Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

JCI insight, 2019-02, Vol.4 (3)

2019

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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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Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Birth defects research, 2020-01, Vol.112 (2), p.175-185

2020

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Human parvovirus B19 infection causing discrepant prenatal findings and outcome in monochorionic diamniotic twins

Case reports in perinatal medicine, 2014-06, Vol.3 (1), p.65-70

2014

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Double‐Outlet Left Ventricle in Association With Heterotaxy and Left Isomerism of the Atrial Appendages

Journal of ultrasound in medicine, 2012-06, Vol.31 (6), p.965-968

2012

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Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach

Pediatric and developmental pathology, 2012-01, Vol.15 (1), p.50-57

2012

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Fetal Manifestation of the Fine-Lubinsky Syndrome : Brachycephaly, Deafness, Cataract, Microstomia and Mental Retardation Syndrome Complicated by Pierre-Robin Anomaly and Polyhydramnios

Fetal diagnosis and therapy, 2008-02, Vol.23 (3), p.228-232

2008

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Fetal Manifestation of the Fine-Lubinsky Syndrome

Fetal diagnosis and therapy, 2008-01, Vol.23 (3), p.228-232

2008

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The genomic and clinical landscape of fetal akinesia

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

Correction: The genomic and clinical landscape of fetal akinesia

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

Die Komplexität der SARS-CoV-2-Infektion im klinischen Alltag der Geburtshilfe – Auseinandersetzung anhand eines Fallbeispiels

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

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

Actin isoform expression patterns in adult extracardiac and cardiac rhabdomyomas indicate a different cell of origin

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

The genomic and clinical landscape of fetalakinesia

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

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

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

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Human parvovirus B19 infection causing discrepant prenatal findings and outcome in monochorionic diamniotic twins

Double‐Outlet Left Ventricle in Association With Heterotaxy and Left Isomerism of the Atrial Appendages

Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach

Fetal Manifestation of the Fine-Lubinsky Syndrome : Brachycephaly, Deafness, Cataract, Microstomia and Mental Retardation Syndrome Complicated by Pierre-Robin Anomaly and Polyhydramnios

Fetal Manifestation of the Fine-Lubinsky Syndrome

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