1,600 results on '"Ogata, Tsutomu"'
Search Results
2. Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
3. Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review
4. Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
5. RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
6. Assessment of patients’ characteristics associated with the efficacy and safety of oral valganciclovir treatment for infants with symptomatic congenital cytomegalovirus disease
7. DNA methylation changes in the genome of patients with hypogonadotropic hypogonadism
8. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
9. Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
10. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
11. Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system
12. ACAN biallelic variants in a girl with severe idiopathic short stature
13. Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing
14. Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata
15. Congenital disorders of estrogen biosynthesis and action
16. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
17. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
18. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
19. A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
20. Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan
21. Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
22. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant
23. TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts
24. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features
25. Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome
26. Assessment of patients’ characteristics associated with the efficacy and safety of oral valganciclovir treatment for infants with symptomatic congenital cytomegalovirus disease
27. Kagami–Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3
28. Correction to: Growth references for Japanese individuals with Noonan syndrome
29. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions
30. Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency
31. Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia
32. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
33. NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
34. A novel GNAS-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism
35. TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis
36. Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis
37. Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency
38. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
39. De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation
40. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
41. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
42. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
43. Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome
44. Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development
45. Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years
46. Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency
47. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
48. Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
49. Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations
50. P389: Kagami-Ogata syndrome: The indispensable role of clinical assessment and utilization of advanced molecular technologies
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.