Disease: Microcephalic osteodysplastic primordial dwarfism- type 1
- "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II
- A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)
- A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
- A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II
- A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
- An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies
- Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
- Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II
- Biochemical defects in minor spliceosome function in the developmental disorder MOPD I
- Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)
- Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review
- Clinical and genetic heterogeneity of Seckel syndrome
- Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene
- Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
- Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
- Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
- Delineating the phenotype of RNU4ATAC-related spliceosomopathy
- Discovering candidate imprinted genes and imprinting control regions in the human genome
- Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
- Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency
- Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
- Extreme microcephaly and growth retardation caused by mutations in a non-coding RNA component of the minor spliceosome
- Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I
- Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
- Genetics. Minor splicing, disrupted
- Hip pathology in Majewski osteodysplastic primordial dwarfism type II
- Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes
- Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly
- Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome
- Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
- Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome
- Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle
- Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC
- Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia
- Macular pigment optical density and its determinants in a Russian population: the ural eye and medical study
- Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies
- Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings
- Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient
- Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)
- Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature
- Microcephalic osteodysplastic primordial dwarfism type 1
- Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
- Microcephalic osteodysplastic primordial dwarfism type I/III in sibs
- Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
- Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease
- Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review
- Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1
- Minor class splicing shapes the zebrafish transcriptome during development
- Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns
- Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells
- Minor splicing snRNAs are enriched in the developing mouse CNS and are crucial for survival of differentiating retinal neurons
- Modifier Genes in Microcephaly: A Report on <em>WDR62</em>, <em>CEP63</em>, <em>RAD50</em> and <em>PCNT</em> Variants Exacerbating Disease Caused by Biallelic Mutations of <em>ASPM</em> and <e
- Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
- Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism
- Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III
- New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients
- New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report
- Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect
- Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
- Ocular characteristics in a variant microcephalic primordial dwarfism type II
- Osteodysplastic primordial dwarfism: a case with features of type II
- Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II
- Pre-mRNA splicing in disease and therapeutics
- Rare events in earth history include the LB1 human skeleton from Flores, Indonesia, as a developmental singularity, not a unique taxon
- Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome
- Strong variable clinical presentation in 3 patients with 7q terminal deletion
- Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism
- Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III
- Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies
- The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
- The Indirect Victims of COVID-19: Perception of Non-COVID-19 Patients about the Effect of Closure of the Medical Outpatient Services on their Health
- The leukemia-associated Rho guanine nucleotide exchange factor LARG is required for efficient replication stress signaling
- The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature
- The shortest of the short: pericentrin mutations and beyond
- Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
- Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature