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