Disease: Short rib-polydactyly syndrome- Majewski type
- A case of siblings with juvenile retinitis pigmentosa associated with <em>NEK1</em> gene variants
- A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
- A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia
- A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome
- A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35
- A short rib polydactyly syndrome overlapping both lethal and nonlethal types
- An exome sequencing strategy to diagnose lethal autosomal recessive disorders
- An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome
- An/micr-ophthalmia, cleft lip/palate, and short limbs: a new syndrome simulating a short rib syndrome
- Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene <em>PTDSS1</em> in skeletal cell lineages
- Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages
- Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
- Autopsy observations in lethal short-rib polydactyly syndromes
- Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
- Characterization of a novel deep-intronic variant in <em>DYNC2H1</em> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
- Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
- Ciliary disorder of the skeleton
- Ciliary Dyneins and Dynein Related Ciliopathies
- Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting
- Clinical genetics and pathobiology of ciliary chondrodysplasias
- Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy
- Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
- Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
- Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis
- Corrigendum to "Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome" [Taiwanese Journal of Obstetrics & Gynecology 56 (2017) 857-862]
- Corrigendum to "Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome" [Taiwanese Journal of Obstetrics & Gynecology 56 (2017) 857-862]
- Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human
- Deletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation
- Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
- Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2
- Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation
- Dynein-Driven Retrograde Intraflagellar Transport Is Triphasic in C. elegans Sensory Cilia
- Early prenatal detection of short-rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy
- Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach
- Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
- Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice
- Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature
- Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
- Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
- Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome
- Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene
- First-trimester prenatal diagnosis of Ellis-van Creveld syndrome
- Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum
- Identical <em>IFT140</em> Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis
- Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome
- Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome
- Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing
- IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration
- IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
- IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways
- In reply to "Short-rib syndrome Beemer-Langer type, a short history"
- Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
- Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
- Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys
- Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome
- Molecular basis underlying the ciliary defects caused by <em>IFT52</em> variations found in skeletal ciliopathies
- Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy
- Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type
- Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
- Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
- Mutations in IFT-A satellite core component genes <em>IFT43</em> and <em>IFT121</em> produce short rib polydactyly syndrome with distinctive campomelia
- Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia
- Mutations in IFT80 cause SRPS Type IV. Report of two families and review
- Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
- NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
- New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy
- Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype
- Overlapping phenotypes in OFD type II and OFD type VI: report of two cases
- Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene
- Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus
- Radiological and histopathological features of short rib-polydactyly syndrome type III and identification of two novel DYNC2H1 variants
- Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel <em>DYNC2H1</em> variants
- Recurrent short rib polydactyly syndrome
- Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia
- Review: Cytoplasmic dynein motors in photoreceptors
- Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients
- Short rib syndrome Beemer-Langer type, a short history
- Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene
- Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene
- Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60
- Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of <em>DYNC2H1</em> gene
- Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene
- Skeletal ciliopathies: a pattern recognition approach
- SRPS associated protein WDR60 regulates the multipolar-to-bipolar transition of migrating neurons during cortical development
- TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human
- Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios
- Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III
- Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis
- TCTN3 mutations cause Mohr-Majewski syndrome
- The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes
- The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
- The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
- Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease
- WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-kappaB pathway in cilia
- WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
- WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype
- Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies
- Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)
- Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy