176 results on '"Reardon, W"'
Search Results
2. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
3. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome
4. Genotype-phenotype correlation in Costello syndrome:HRAS mutation analysis in 43 cases
5. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
6. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
7. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
8. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
9. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome
10. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
11. Mutation in KCNQ1 that has both recessive and dominant characteristics
12. Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement
13. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes. (Original Article)
14. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome
15. Craniosynostosis and chromosome 22q11 deletion
16. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans
17. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
18. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
19. Medical genetics
20. Emery and Rimoin's Principles and Practice of Medical Genetics: 4th edition. Editors D L Rimoin, J M Connor, R E Pyeritz, B R Korf. (Pp 4936; pound350.00.) Edinburgh: Churchill-Livingstone. 2002. ISBN 0443064342.
21. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association
22. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
23. Craniosynostosis. Diagnosis, evaluation and management.
24. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
25. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
26. Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
27. Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.
28. Pendred syndrome.
29. Hereditary Hearing Loss and its Syndromes
30. Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.
31. Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
32. Medical genetics: advances in brief
33. Saethre-Chotzen syndrome.
34. Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.
35. Medical genetics: advances in brief: Mitochondrial gene mutation in isletcell-antibody-positive patients who were initially non-insulin-dependent diabetics
36. Medical genetics: advances in brief: Twin studies in medical research: can they tell us whether diseases are genetically determined?
37. Medical genetics: advances in brief: Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia
38. Medical genetics: advances in brief: Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene
39. A new form of familial ataxia, deafness, and mental retardation.
40. Cerebellar ataxia and ectodermal dysplasia in brothers.
41. Medical genetics: advances in brief: Congenital bilateral perisylvian syndrome: study of 31 patients
42. Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.
43. Medical genetics: advances in brief: Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis
44. Medical genetics: advances in brief: Genetic susceptibility to multiple sclerosis linked to myelin basic protein
45. Medical genetics: advances in brief: Deletions within chromosome 22q11 in familial congenital heart disease
46. Medical genetics: advances in brief: Maternal inheritance of atopic IgE responsiveness on chromosome 11q
47. Minimal expression of myotonic dystrophy: a clinical and molecular analysis.
48. Medical genetics: advances in brief: Linkage of type 2 diabetes to the glucokinase gene
49. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
50. Genetic deafness.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.