• A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus
• A Case Report of Donnai-Barrow Syndrome
• A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity
• A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis
• Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome
• Bartter-Like Renal Phenotype in a Child with Donnai-Barrow Syndrome
• Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with <em>Lrp2</em> Candidate Variants (Donnay-Barrow/Foar Syndrome)
• Beyond the tubule: pathological variants of <em>LRP2</em>, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease
• Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome
• Cauterized suture for complete tube occlusion of Ahmed glaucoma valve in hypotony maculopathy
• Clinical phenocopies of albinism
• Cochlear implantation in children with syndromic deafness
• Cochlear implantation in Donnai-Barrow syndrome
• Cochlear Implantation Outcomes in Children with Agenesis of the Corpus Callosum: A Retrospective Study and A Review of the Literature
• Congenital diaphragmatic hernia
• Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics
• Corrigendum to Flemming J, Marczenke M, Rudolph I-M, et al. Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Kidney Int. 2020;98:159-167
• Cryo-EM structures elucidate the multiligand receptor nature of megalin
• Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells
• Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance
• Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
• Donnai-Barrow Syndrome
• Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
• Donnai-Barrow syndrome: four additional patients
• Ectopic vortex veins and varices in Donnai Barrow syndrome
• Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome
• Foxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High Myopia
• From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age
• Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
• Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome
• Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability
• In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction
• Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome
• Low molecular weight proteinuria, congenital myopia and hearing loss in a 10-year-old boy: Answers
• LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease
• Maternal-fetal cholesterol transport in the second half of mouse pregnancy does not involve LDL receptor-related protein 2
• Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism
• Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice
• Megalin-Mediated Trafficking of Mitochondrial Intracrines: Relevance to Signaling and Metabolism
• Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
• Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
• Myopia control in Mendelian forms of myopia
• Neuronal megalin mediates synaptic plasticity-a novel mechanism underlying intellectual disabilities in megalin gene pathologies
• Ocular manifestations of Donnai-Barrow syndrome
• Performance of Children With Donnai-Barrow Syndrome After Cochlear Implantation: A Case Report
• Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome
• Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
• Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome
• Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration
• Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration
• Spastic Paraparesis in Donnai-Barrow Syndrome: A Rare Case Report from India
• Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist
• Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
• The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome
• The genetics of common disorders - congenital diaphragmatic hernia
• The structure of megalin: shedding new light on receptor-mediated endocytosis
• Two novel variations in <em>LRP2</em> cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia
• Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia
• Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature
• Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy
• Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype