100 results on '"Dysplasia -- Genetic aspects -- Research"'
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2. Findings from Iwate Medical University Yields New Findings on Colon Cancer (Characterization of Sessile Serrated Adenomas With Dysplasia Including Intramucosal Adenocarcinoma and Colorectal Carcinoma With a Microsatellite Instability Phenotype)
3. Department of Rehabilitation Medicine Researchers Discuss Research in Septo Optic Dysplasia (Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report)
4. Studies from Peking University Third Hospital Describe New Findings in Fibrous Dysplasia (The prevalence, diagnostic accuracy and genotype-phenotype correlation of GNAS mutations in fibrous dysplasia: a meta-analysis)
5. New Fibrous Dysplasia Study Findings Recently Were Published by a Researcher at Seoul National University (Vitamin D Attenuates Fibrotic Properties of Fibrous Dysplasia-Derived Cells for the Transit towards Osteocytic Phenotype)
6. New Genomics and Genetics Study Results Reported from University of Miami (adamtsl2 Mutations Determine the Phenotypic Severity In Geleophysic Dysplasia)
7. New Genome Biology and Evolution Findings from Johannes Kepler University Discussed (Exploring Fgfr3 Mutations In the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-related Dysplasias)
8. Research Reports on Skeletal Dysplasia from Universidad de la Republica Provide New Insights (Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia)
9. Researchers from University of Veterinary Medicine Detail Findings in Extracellular Matrix Proteins (A Missense Mutation in the Collagen Triple Helix of * * EDA* * Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in ...)
10. New Oral Science and Health Study Findings Recently Were Reported by Researchers at Fujian Medical University (Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up)
11. Sorbonne Universite Researcher Reports Recent Findings in Epilepsy (Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup)
12. Research on Skeletal Dysplasia Discussed by Researchers at University of Otago (FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function)
13. Study Findings on Neoplasia Are Outlined in Reports from University of California San Francisco (UCSF) (Fundic Gland Polyps Lack Dna Content Abnormality Characteristic of Other Adenomatous Precursor Lesions In the Gastrointestinal Tract)
14. Recent Findings from Prenatal Diagnosis Center Highlight Research in Polydactyly [Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly)]
15. Reports from Catholic University of Louvain (UCLouvain) Highlight Recent Findings in Fibromuscular Dysplasia (Current Progress In Clinical, Molecular, and Genetic Aspects of Adult Fibromuscular Dysplasia)
16. Researchers at Kyushu University Target Biochemistry (Accelerated osteoblastic differentiation in patient-derived dental pulp stem cells carrying a gain-of-function mutation of TRPV4 associated with metatropic dysplasia)
17. Charles University Researchers Provide Details of New Studies and Findings in the Area of Medical Research (Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene)
18. Second Xiangya Hospital Researchers Highlight Research in Campomelic Dysplasia [Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia]
19. Study Findings on Skeletal Dysplasia Discussed by Researchers at Chang Gung Memorial Hospital (Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia)
20. New Spindle Cell Sarcoma Findings from Royal National Orthopaedic Hospital Described (Mutational Analysis of High-grade Spindle Cell Sarcoma of the Femur In Mazabraud's Syndrome)
21. New Findings on Arrhythmogenic Right Ventricular Dysplasia Described by Investigators at Tsinghua University (Tmem43-s358l Mutation Enhances Nf-kappa B-tgf Beta Signal Cascade In Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy)
22. New Findings from Second People's Hospital in the Area of Arrhythmogenic Right Ventricular Dysplasia Described (Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular ...)
23. Reports Outline Arrhythmogenic Right Ventricular Dysplasia Research from University Heart Center Zurich (Arrhythmogenic Right Ventricular Cardiomyopathy and Differential Diagnosis with Diseases Mimicking Its Phenotypes)
24. Two sisters with Angelman syndrome: A case series report
25. Findings from University of Western Ontario in Hearing Loss Reported (Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss)
26. Findings from Public Hospital System Update Knowledge of Epilepsy (Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy)
27. Report Summarizes Dysplasia Study Findings from National Cheng Kung University (Case report of Schopf-Schulz-Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A)
28. Studies from Gunma University Graduate School of Medicine Have Provided New Data on Campomelic Dysplasia (Familial campomelic dysplasia due to maternal germinal mosaicism)
29. New Achondroplasia Study Results from Royal Children's Hospital Described (Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias)
30. Montefiore Medical Center Details Findings in Gonadal Dysgenesis (Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating beta-catenin)
31. Studies from College of Medicine Add New Findings in the Area of Dysplasia (Case report of Sch?pf-Schulz-Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A)
32. New Findings on Medical Microbiology from University of Thessaly Summarized (Association of codon 72 polymorphism of p53 with the severity of cervical dysplasia, E6-T350G and HPV16 variant lineages in HPV16-infected women)
33. New Dysplasia Study Results from Department of Dermatology Described (Automatic recognition of the XLHED phenotype from facial images)
34. Studies from University of Jyvaskyla Have Provided New Information about Dysplasia (Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing)
35. Findings on Skeletal Dysplasia Detailed by Investigators at La Paz University Hospital (Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia)
36. New Polydactyly Study Findings Recently Were Reported by Researchers at State University of Campinas (Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122)
37. New Dysplasia Study Findings Have Been Reported by Researchers at University of Otago (Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype)
38. New Deafness Study Findings Have Been Reported by Researchers at Division of Nephrology (Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome)
39. Studies Conducted at State University of Campinas on Polydactyly Recently Reported (Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122)
40. Studies Conducted at Southern Medical University on Dentin Dysplasia Recently Reported (Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I)
41. Recent Findings from Southern Medical University Provide New Insights into Dentin Dysplasia (Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I)
42. Studies from Catholic University of Leuven in the Area of Cleidocranial Dysplasia Reported (Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation)
43. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. (Letter to JMG)
44. Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. (Original Article)
45. Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. (Short Report)
46. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2). (Short Report)
47. Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. (Letter tO JMG)
48. The phenotype of survivors of campomelic, dysplasia. (Letter to JMG)
49. Sponastrime dysplasia: presentation in infancy. (Letters to the Editors)
50. Study Results from University Hospital in the Area of Dysplasia Reported (Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies)
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