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Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case

Türk Kardiyoloji Derneği arşivi, 2016-09, Vol.44 (6), p.503-506

2016

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Concurrent presentation of Jeune syndrome features in a preterm infant born to a mother with gestational diabetes and hypertension: A rare case report

Journal of neonatal nursing : JNN, 2024-04

2024

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VP32.04: Prenatal diagnosis a case of Jeune syndrome in combination with Down's syndrome

Ultrasound in obstetrics & gynecology, 2020-10, Vol.56 (S1), p.189-189

Vo, S.T.

2020

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Role of Primary Cilia in Bone and Cartilage

Journal of Dental Research, 2022-03, Vol.101 (3), p.253-260

2022

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Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation

Radiology case reports, 2024-12, Vol.19 (12), p.5754-5757

2024

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Thoracic insufficiency syndrome: Approaches to assessment and management

Paediatric respiratory reviews, 2022-12, Vol.44, p.78-84

2022

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Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Proceedings of the National Academy of Sciences - PNAS, 2021-09, Vol.118 (39), p.1-12

2021

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643

2011

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Nephronophthisis and related syndromes

Current opinion in pediatrics, 2015-04, Vol.27 (2), p.201-211

Wolf, Matthias T F

2015

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

American journal of human genetics, 2012-05, Vol.90 (5), p.864-870

2012

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Síndrome de Jeune tipo II clínico y enfermedad renal crónica terminal: .Reporte de caso

Revista de nefrología, diálisis y transplante, 2024, Vol.44 (3), p.151-155

2024

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Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques

Frontiers in pediatrics, 2023-09, Vol.11

2023

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Fetal ciliopathies: a retrospective observational single-center study

Archives of gynecology and obstetrics, 2022-07, Vol.306 (1), p.71-83

2022

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Ultrasound diagnosis of recurring Jeune's syndrome: a case report

Clinical and experimental obstetrics & gynecology, 2013, Vol.40 (1), p.162-164

2013

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Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome

Clinical genetics, 2018-03, Vol.93 (3), p.632-639

2018

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Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

Scientific reports, 2016-09, Vol.6 (1), p.34232-34232, Article 34232

2016

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Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

International journal of molecular sciences, 2022-08, Vol.23 (16), p.9234

2022

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Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Human mutation, 2018-10, Vol.39 (10), p.1456-1467

2018

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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

EMBO molecular medicine, 2020-11, Vol.12 (11), p.e11739-n/a

2020

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Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement

International medical case reports journal, 2024-01, Vol.17, p.209-214

2024

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Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

BMC medical genomics, 2023-12, Vol.16 (1), p.318-318, Article 318

2023

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Educational paper: Ciliopathies

European journal of pediatrics, 2012-09, Vol.171 (9), p.1285-1300

Bergmann, Carsten

2012

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Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function

eLife, 2018-10, Vol.7

2018

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A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy

European journal of medical genetics, 2020-04, Vol.63 (4), p.103823-103823, Article 103823

2020

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New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy

Clinica chimica acta, 2016-04, Vol.455, p.172-180

2016

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Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case

Concurrent presentation of Jeune syndrome features in a preterm infant born to a mother with gestational diabetes and hypertension: A rare case report

VP32.04: Prenatal diagnosis a case of Jeune syndrome in combination with Down's syndrome

Role of Primary Cilia in Bone and Cartilage

Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation

Thoracic insufficiency syndrome: Approaches to assessment and management

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Nephronophthisis and related syndromes

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Síndrome de Jeune tipo II clínico y enfermedad renal crónica terminal: .Reporte de caso

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques

Fetal ciliopathies: a retrospective observational single-center study

Ultrasound diagnosis of recurring Jeune's syndrome: a case report

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

Educational paper: Ciliopathies

Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy

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