925 results on '"Maher, Eamonn R"'
Search Results
2. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
3. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
4. Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
5. Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
6. Imprinting disorders
7. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
8. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
9. Paediatric research sets new standards for therapy in paediatric and adult cholestasis
10. Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
11. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1
12. Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service
13. Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
14. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
15. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
16. A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours
17. Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals
18. The role of [68 Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST)
19. Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion
20. von Hippel-Lindau Disease: an Update
21. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
22. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
23. Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management
24. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
25. X-linked cataract and Nance-Horan syndrome are allelic disorders
26. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
27. The Novel Rho-GTPase Activating Gene MEGAP/srGAP3 Has a Putative Role in Severe Mental Retardation
28. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis.
29. Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
30. A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome
31. Health and population effects of rare gene knockouts in adult humans with related parents
32. Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study
33. SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice
34. CDKN1C mutations: two sides of the same coin
35. Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
36. Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency
37. Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review
38. Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
39. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment
40. Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply
41. The Birmingham Registry for Twin and Heritability Studies (BiRTHS)
42. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study
43. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
44. Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism
45. HUMAN GENOMICS: Health and population effects of rare gene knockouts in adult humans with related parents
46. Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
47. Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review
48. UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
49. Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC).
50. Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)
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