Disease: Retinopathy pigmentary mental retardation
- A case of a Jordanian male twin with Cohen's syndrome, with genetic analysis and muscle biopsy; case report
- A Case of Laurence Moon Bardet Biedl Syndrome
- A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation
- A Cohen syndrome patient whose muscle-relaxant effect may have been prolonged during general anesthesia: a case report
- A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report
- A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11
- A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome
- A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome
- A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome
- A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
- A Novel Variant in <em>VPS13B</em> Underlying Cohen Syndrome
- A Novel Variant in VPS13B Underlying Cohen Syndrome
- A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome
- A novel VPS13B mutation in Cohen syndrome: a case report and review of literature
- A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome
- A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
- A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13
- Alström Syndrome with Early Vision and Hearing Impairement
- An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome
- Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations
- Bardet-Biedl Syndrome Presenting in Adulthood
- Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome
- Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient
- Bilateral Subluxation of Microspherophakic Lens in a Child with Cohen Syndrome
- Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene
- Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
- Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected
- Child Neurology: Mucopolysaccharidosis IIID: Evidence From Ultrastructural and Genomic Study
- CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability
- Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome
- Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
- Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report
- Cohen syndrome combined with novel KRT9 gene mutation leading to epidermolytic palmoplantar keratoderma: A rare case report
- Cohen syndrome combined with psychiatric symptoms: a case report
- Cohen syndrome in two patients from China
- Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes
- Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
- Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy
- Cohen Syndrome: Review of the Literature
- Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
- Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders
- Cystoid Macular Edema in a 10-Year-Old Boy With Cohen Syndrome
- Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
- Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
- Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
- Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
- Early ocular findings in Cohen syndrome: case report and Canadian survey study
- Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome
- EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome
- Ethnic and population differences in the genetic predisposition to human obesity
- Expanding the Genotype and Phenotype of SETD5-Related Neurodevelopmental Syndrome
- Exploring the pathological mechanisms underlying Cohen syndrome
- First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
- Frontal cranioplasty in fronto-metaphyseal dysplasia
- Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome
- Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome
- Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene
- Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology
- Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family
- Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
- Large animals as potential models of human mental and behavioral disorders
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <em>SRD5A3</em>-Congenital Disorders of Glycosylation and <em>RP1</em>-Related Retinitis Pigmentosa
- Mechanism of ribosome-associated mRNA degradation during tubulin autoregulation
- Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report
- Multi-directional Cranial Distraction Osteogenesis for Treating Sagittal Synostosis with Frontometaphyseal Dysplasia: A Case Report
- Multiorgan neutrophilic inflammation in a Border Collie with "trapped" neutrophil syndrome
- Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome
- Neonatal neuroblastoma 4s with diffuse liver metastases (Pepper syndrome) without an adrenal/extraadrenal primary identified on imaging
- Non-ubiquitous expression of core spliceosomal protein SmB/B' in chick and mouse embryos
- Nonleaking cystoid macular edema in Cohen syndrome
- Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene
- Ophthalmic findings in Cohen syndrome patient without subjective ophthalmic complaints: A case report
- Optical coherence tomography findings in Cohen syndrome
- Pepper's syndrome: report of two cases at the Charles de Gaulle University Pediatric Hospital Center, Ouagadougou (Burkina Faso)
- Periodontal disorders in a cohort of patients with Cohen syndrome
- Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder
- Proteins from Vps13 family: from molecular function to pathogenesis of neurodegenerative disorders
- Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation
- Psychomotor retardation with neutropenia for more than one year in a toddler
- Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder
- Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21)
- Resolution of cystoid macular edema with topical carbonic anhydrase inhibitor in a patient with retinal dystrophy associated with Cohen syndrome
- Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome
- Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history
- Selective IgM deficiency: Follow-up and outcome
- Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
- Spatial Learning and Motor Deficits in <em>Vacuolar Protein Sorting-associated Protein 13b</em> (<em>Vps13b</em>) Mutant Mouse
- Syndromic retinitis pigmentosa caused by biallelic <em>SCAPER</em> frameshift variant
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
- The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci
- The Vps13 Family of Lipid Transporters and Its Role at Membrane Contact Sites
- Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients
- Use of biotherapy for psoriasis in a patient with Cohen syndrome
- Variceal Bleed and Portal Hypertensive Gastropathy in a Noncirrhotic Patient with Isolated Splenomegaly
- VPS13B is localized at the cis-trans Golgi complex interface and is a functional partner of FAM177A1
- VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia
- Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome
- Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, <em>ST3GAL5</em> Gene in a Saudi Family Causing Salt and Pepper Syndrome
- Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease