313 results on '"Crolla, John A."'
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2. Molecular investigations of structural and numerical chromosome abnormalities in man
3. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
4. Nonisotopic in Situ Hybridization : Clinical Cytogenetics and Gene Mapping Applications
5. Perspective on the Technical Challenges Involved in the Implementation of Array-CGH in Prenatal Diagnostic Testing
6. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
7. Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
8. Pallister-Killian syndrome: a study of 22 British patients
9. Clinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome: Six New Patients
10. Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort
11. De Novo Interstitial Deletion 2q14.1q22.1: Is There a Recognizable Phenotype?
12. A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis
13. Prenatal diagnosis
14. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment
15. Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?
16. A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities
17. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
18. A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation
19. Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines
20. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
21. Billateral Polycystic Kidneys in a Girl with WAGR Syndrome
22. SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours
23. Phenotypic variability of distal 22q11.2 copy number abnormalities
24. Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH
25. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation
26. Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
27. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
28. De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age
29. A novel 2.43 Mb deletion of 7q11.22–q11.23
30. Novel Heterozygous OTX2 Mutations and Whole Gene Deletions in Anophthalmia, Microphthalmia and Coloboma
31. Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
32. Further Case of Microdeletion of 8q24 With Phenotype Overlapping Langer-Giedion Without TRPS1 Deletion
33. SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development
34. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
35. Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion
36. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis
37. Diabetes, Very Low Birthweight and Short Stature Resulting from Disruption of Paternally-Derived IGF2 Region in llp15.5: 1125-P
38. Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
39. A test of the production line hypothesis of mammalian oogenesis
40. An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations
41. Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions
42. Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay
43. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus
44. Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes
45. Cytogenetics 40 years on
46. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study
47. Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23)
48. X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp
49. FISH studies in a patient with sporadic aniridia and t(7;11)(q31.2;p13)
50. Detection of minimal residual disease in childhood acute lymphoblastic leukaemia using fluorescence in-situ hybridization
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