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References for Prof N.C. Nevin

Please note that this list has yet to be manually curated and thus may contain inaccuracies or omissions.

1.         Nevin, N.C., Revascularization and Fate of Bone Transplants. Journal of Anatomy, 1957. 91(4): p. 591-592.

2.         Nevin, N.C., P.C. Elmes, and J.A. Weaver, 3 Cases of Intravascular Thrombosis Occurring in Patients Receiving Oral Contraceptives. British Medical Journal, 1965. 1(5450): p. 1586-&.

3.         Nevin, N.C., Thompson,Js - Genetics and Medicine. British Medical Journal, 1966. 2(5529): p. 1583-&.

4.         Nevin, N.C., Prolonged Coma after Head Injury. Lancet, 1966. 2(7471): p. 1029-&.

5.         Biggart, J.D. and N.C. Nevin, Hyperplasia of Thymus in Progressive Systemic Sclerosis. Journal of Pathology and Bacteriology, 1967. 93(1): p. 334-&.

6.        Nevin, N.C., Neuropathological Changes in White Matter Following Head Injury. Journal of Neuropathology and Experimental Neurology, 1967. 26(1): p. 77-&.

7.         Nevin, N.C., J.N. Cumings, and F. Mckeown, Refsums Syndrome Heredopathia Atactica Polyneuritiformis. Brain, 1967. 90: p. 419-&.

8.         Beare, J.M., J.A. Dodge, and N.C. Nevin, Cutis Gyratum Acanthosis Nigricans and Other Congenital Anomalies - a New Syndrome. British Journal of Dermatology, 1969. 81(4): p. 241-&.

9.         Cummings, W.J. and N.C. Nevin, A System for Automated Chromosome Analysis. Humangenetik, 1969. 7(4): p. 349-&.

10.       Knox, S.J. and N.C. Nevin, Xyy Chromosomal Constitution in Prison Populations. Nature, 1969. 222(5193): p. 596-&.

11.       Nevin, N.C., et al., Acute Phlegmonous Gastritis. British Journal of Surgery, 1969. 56(4): p. 268-&.

12.       Kernohan, D.C., N.C. Nevin, and J.A. Dodge, Familial Craniosynostosis with Oral Anomalies. Developmental Medicine and Child Neurology, 1970. 12(3): p. 315-&.

13.       Nevin, N.C., J.A. Dodge, and D.C. Kernohan, Aglossia-Adactylia Syndrome. Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontics, 1970. 29(3): p. 443-&.

14.       Ferguson.Me, et al., Chromosome Analysis before Birth and Its Value in Genetic Counselling. British Medical Journal, 1971. 4(5779): p. 69-&.

15.       Froggatt, P. and N.C. Nevin, Law of Ancestral Heredity and Mendelian-Ancestrian Controversy in England, 1889-1906. Journal of Medical Genetics, 1971. 8(1): p. 1-&.

16.       Mawhinne.H, et al., Dysgammaglobulinaemia Complicated by Disseminated Measles. British Medical Journal, 1971. 2(5758): p. 380-&.

17.       Nevin, N.C., Maclaver.B, and W.A. Campbell, Child with a Ring G Chromoosme (46,Xx,Gr). Journal of Medical Genetics, 1971. 8(2): p. 231-&.

18.       Nevin, N.C., et al., Hereditary Gingival Fibromatosis. Journal of Mental Deficiency Research, 1971. 15(Jun): p. 130-&.

19.       Redmond, A., N.C. Nevin, and J.M. Bridges, Unusual Case of Chronic Granulocytic Leukaemia. Irish Journal of Medical Science, 1971. 140(7): p. 327-&.

20.       Tomkin, G.H., Mawhinne.H, and N.C. Nevin, Isolated Absence of Iga with Autosomal Dominant Inheritance. Lancet, 1971. 2(7716): p. 124-&.

21.       Beare, J.M., et al., Atypical Erythrokeratoderma with Deafness, Physical  Retardation and Peripheral Neuropathy. British Journal of Dermatology, 1972. 87(4): p. 308-&.

22.       Mawhinne.H, et al., Selective Iga Deficiency. Lancet, 1972. 2(7776): p. 546-&.

23.       Nevin, N.C., I.V. Allen, and J.A. Dodge, 2 Cases of Trisomy-D Associated with Adrenal Tumors. Journal of Medical Genetics, 1972. 9(1): p. 119-&.

24.       Elwood, J.H. and N.C. Nevin, Factors Associated with Anencephalus and Spina-Bifida in Belfast. British Journal of Preventive & Social Medicine, 1973. 27(2): p. 73-80.

25.       Johnston, S.S., J. Darragh, and N.C. Nevin, Hereditary Macular Degeneration in 3 Generations. British Journal of Ophthalmology, 1973. 57(8): p. 578-583.

26.       Millar, J.H.D. and N.C. Nevin, Congenital Malformations and Anticonvulsant Drugs. Lancet, 1973. 1(7798): p. 328-328.

27.       Nevin, N.C., S. Nesbitt, and W. Thompson, Myelocele and Alpha-Fetoprotein in Amniotic-Fluid. Lancet, 1973. 1(7816): p. 1383-1383.

28.       Blundell, G., et al., Alpha1-Antitrypsin Null Gene (Pi-). Lancet, 1974. 2(7877): p. 404-404.

29.       Cole, R.B., N.C. Nevin, and G. Blundell, Effect of Variation in Alpha 1-Antitrypsin Phenotype Upon Incidence of Respiratory Illness in a Working Population. Clinical Science and Molecular Medicine, 1974. 47(5): p. P26-P27.

30.       Nevin, N.C., Amniotic-Fluid and Maternal Serum Alpha-Fetoprotein Determination in Neural Tube Defects. Developmental Medicine and Child Neurology, 1974. 16(6): p. 122-125.

31.       Nevin, N.C., et al., Hallermann-Streiff Syndrome. Journal of Mental Deficiency Research, 1974. 18(Jun): p. 145-151.

32.       Nevin, N.C., W. Thompson, and S. Nesbitt, Amniotic-Fluid Alpha-Fetoprotein in Antenatal Diagnosis of Neural Tube Defects. Journal of Obstetrics & Gynaecology of the British Commonwealth, 1974. 81(10): p. 757-760.

33.       Blundell, G., et al., Alpha1 Antitrypsin Phenotypes in Northern-Ireland. Annals of Human Genetics, 1975. 38(Jan): p. 289-294.

34.       Johnston, N., J.B. Bridges, and N.C. Nevin, Quantitative Nitroblue Tetrazolium Test in Mongolism. Irish Journal of Medical Science, 1975. 144(11): p. 422-425.

35.       Nevin, N.C. and M.J. Armstrong, Raised Alpha-Fetoprotein Levels in Amniotic-Fluid and Maternal Serum in a Triplet Pregnancy in Which One Fetus Had an Omphalocele. British Journal of Obstetrics and Gynaecology, 1975. 82(10): p. 826-828.

36.       Nevin, N.C., et al., Aglossia-Adactylia Syndrome. Journal of Medical Genetics, 1975. 12(1): p. 89-93.

37.       Nevin, N.C. and J.D. Merrett, Potato Avoidance during Pregnancy in Women with a Previous Infant with Either Anencephaly and-or Spina-Bifida. British Journal of Preventive & Social Medicine, 1975. 29(2): p. 111-115.

38.       Cole, R.B., et al., Relation of Alpha-1-Antitrypsin Phenotype to Performance of Pulmonary-Function Tests and to Prevalence of Respiratory Illness in a Working Population. Thorax, 1976. 31(2): p. 149-157.

39.       Cole, R.B., et al., Effect of Variation in Alpha-1-Antritrypsin Phenotype Upon Incidence of Respiratory Illness in an Unselected Working Population. Proceedings of the Royal Society of Medicine-London, 1976. 69(2): p. 132-133.

40.       Nevin, N.C., W. Thompson, and G. Roberts, Raised Alpha-Fetoprotein Levels and Congenital Defect. British Medical Journal, 1976. 2(6033): p. 473-473.

41.       Nevin, N.C., et al., Family with Testicular Feminization Syndrome. Irish Journal of Medical Science, 1976. 145(11): p. 353-358.

42.       Thomas, P.S. and N.C. Nevin, Congenital Familial Dwarfism with Cephalo-Skeletal Dysplasia (Taybi-Linder Syndrome). Annales De Radiologie, 1976. 19(1): p. 187-192.

43.       Nevin, N.C., Hereditary Deafness Associated with Branchial Fistulas and External Ear Malformations. Journal of Laryngology and Otology, 1977. 91(8): p. 709-716.

44.       Nevin, N.C., Agenesis of Corpus-Callosum and Infantile Spasms. Irish Journal of Medical Science, 1977. 146(5): p. 147-147.

45.       Thomas, P.S. and N.C. Nevin, Spondylometaphyseal Dysplasia. American Journal of Roentgenology, 1977. 128(1): p. 89-93.

46.       Allen, I.V., et al., Clinicopathological Study of Refsums Disease with Particular Reference to Fatal Complications. Journal of Neurology Neurosurgery and Psychiatry, 1978. 41(4): p. 323-332.

47.       Glasgow, J.F.T., N.C. Nevin, and P.S. Thomas, Hypochondroplasia. Archives of Disease in Childhood, 1978. 53(11): p. 868-872.

48.       Machenry, J.C.R.M., N.C. Nevin, and P.S. Thomas, Achondrogenesis. Irish Journal of Medical Science, 1978. 147(11): p. 404-406.

49.      Mcgeown, M.G. and N.C. Nevin, Cytogenetic Analysis on Children Born of Parents Treated with Immunosuppressive Drugs. Kidney International, 1978. 14(1): p. 108-109.

50.       Nevin, N.C., J.R. Mcdonald, and A.L. Walby, Comparison of Neural Tube Defects Identified by 2 Independent Routine Recording-Systems for Congenital-Malformations in Northern-Ireland. International Journal of Epidemiology, 1978. 7(4): p. 319-321.

51.       Nevin, N.C., et al., Raised Alpha-Fetoprotein Levels in Amniotic-Fluid and Maternal Serum Associated with Distension of Fetal Bladder Caused by Absence of Urethra. Journal of Medical Genetics, 1978. 15(1): p. 61-63.

52.       Machenry, J.C.R.M., N.C. Nevin, and J.D. Merrett, Comparison of Central Nervous-System Malformations in Spontaneous-Abortions in Northern-Ireland and Southeast England. British Medical Journal, 1979. 1(6175): p. 1395-1397.

53.       Nevin, G.B., N.C. Nevin, and A.O. Redmond, Cystic-Fibrosis in Northern-Ireland. Journal of Medical Genetics, 1979. 16(2): p. 122-124.

54.       Nevin, N.C., Screening for Children - Importance of Screening for Genetic-Diseases. Royal Society of Health Journal, 1979. 99(1): p. 37-40.

55.       Nevin, N.C., J. Nevin, and W. Thompson, Trisomy-20 Mosaicism in Amniotic-Fluid Cell-Culture. Clinical Genetics, 1979. 15(5): p. 440-443.

56.       Nevin, N.C., et al., Prenatal Diagnosis of the Meckel Syndrome. Clinical Genetics, 1979. 15(1): p. 1-4.

57.       Tully, G.W., et al., Detection of Cystic-Fibrosis Protein by Isoelectric-Focusing of Serum. Pediatric Research, 1979. 13(9): p. 1078-1078.

58.       Nevin, N.C., Computer-Assisted Cranial Tomography in Tuberous Sclerosis. Developmental Medicine and Child Neurology, 1980. 22(3): p. 379-380.

59.       Nevin, N.C., Recurrence Risk of Neural-Tube Defects. Lancet, 1980. 1(8181): p. 1301-1302.

60.       Nevin, N.C. and W.P. Johnston, Risk of Recurrence after 2 Children with Central Nervous-System Malformations in an Area of High-Incidence. Journal of Medical Genetics, 1980. 17(2): p. 87-92.

61.       Nevin, N.C. and W.P. Johnston, A Family Study of Spina-Bifida and Anencephalus in Belfast, Northern-Ireland (1964 to 1968). Journal of Medical Genetics, 1980. 17(3): p. 203-211.

62.       Nevin, N.C. and W.P. Johnston, The Risk of Recurrence of Cns Malformations after 2 Affected Children. American Journal of Medical Genetics, 1980. 5(2): p. 216-217.

63.       Nevin, N.C., D.C. Kernohan, and A.M. Ross, Ankyloglossum Superius Syndrome. Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontics, 1980. 50(3): p. 254-256.

64.       Roy, A.D., et al., Idiopathic Intestinal-Pseudo-Obstruction - a Familial Visceral Neuropathy. Clinical Genetics, 1980. 18(4): p. 291-297.

65.       Smithells, R.W., et al., Possible Prevention of Neural-Tube Defects by Periconceptional Vitamin Supplementation. Archives of Disease in Childhood, 1980. 55(9): p. 734-734.

66.       Smithells, R.W., et al., Possible Prevention of Neural-Tube Defects by Periconceptional Vitamin Supplementation. Lancet, 1980. 1(8164): p. 339-340.

67.       Nevin, G.B., et al., Detection of Cystic-Fibrosis Homozygotes and Heterozygotes by Serum Isoelectrofocusing. Human Genetics, 1981. 56(3): p. 387-389.

68.       Nevin, N.C., Neural-Tube Defects. Lancet, 1981. 2(8258): p. 1290-1291.

69.       Nevin, N.C., P. Henry, and P.T.S. Thomas, A Case of the Orocraniodigital (Juberg-Hayward) Syndrome. Journal of Medical Genetics, 1981. 18(6): p. 478-480.

70.       Nevin, N.C. and A.E. Hughes, Feto-Specific Proteins in the Prenatal Detection of Neural-Tube Defects. Neuropathology and Applied Neurobiology, 1981. 7(6): p. 509-510.

71.       Nevin, N.C., W.P. Johnston, and J.D. Merrett, Influence of Social-Class on the Risk of Recurrence of Anencephaly and Spina-Bifida - Reply. Developmental Medicine and Child Neurology, 1981. 23(5): p. 662-663.

72.       Nevin, N.C., W.P. Johnston, and J.D. Merrett, Influence of Social-Class on the Risk of Recurrence of Anencephalus and Spina-Bifida. Developmental Medicine and Child Neurology, 1981. 23(2): p. 155-159.

73.       Smithells, R.W., et al., Trial of Folate Treatment to Prevent Recurrence of Neural-Tube Defects. British Medical Journal, 1981. 282(6278): p. 1793-1793.

74.       Smithells, R.W., et al., Apparent Prevention of Neural-Tube Defects by Periconceptional Vitamin Supplementation. Archives of Disease in Childhood, 1981. 56(12): p. 911-918.

75.       Smithells, R.W., et al., Vitamin Supplementation and Neural-Tube Defects. Lancet, 1981. 2(8260): p. 1425-1425.

76.       Thomas, P.S. and N.C. Nevin, The Door Syndrome. Pediatric Radiology, 1981. 11(4): p. 229-229.

77.       Adams, C., W.P. Johnston, and N.C. Nevin, Family Study of Congenital Hydrocephalus. Developmental Medicine and Child Neurology, 1982. 24(4): p. 493-498.

78.       Bingham, E.A., et al., Letterer-Siwe Disease - a Study of Thirteen Cases over a 21-Year Period. British Journal of Dermatology, 1982. 106(2): p. 205-209.

79.       Bryars, J.H., N.C. Nevin, and S.S. Johnston, Aicardis Syndrome with Possible Incomplete Expression in a Male. Irish Journal of Medical Science, 1982. 151(9): p. 291-291.

80.       Johnston, S.S., et al., Norries Disease. Birth Defects-Original Article Series, 1982. 18(6): p. 729-738.

81.       Nevin, N.C., Genetic-Disorders. Clinics in Obstetrics and Gynaecology, 1982. 9(1): p. 3-27.

82.       Nevin, N.C. and N.A.J. Carson, Severe Mental-Retardation Due to Maternal Phenylketonuria. Ulster Medical Journal, 1982. 51(2): p. 133-135.

83.       Nevin, N.C., J. Little, and W. Coffey, Down Syndrome in Northern-Ireland. Journal of Medical Genetics, 1982. 19(6): p. 459-459.

84.       Nevin, N.C., et al., Deafness, Onycho-Osteodystrophy, Mental-Retardation (Door) Syndrome. American Journal of Medical Genetics, 1982. 13(3): p. 325-332.

85.       Smithells, R.W., et al., Vitamin Supplements and Neural-Tube Defects. Lancet, 1982. 1(8282): p. 1186-1186.

86.       Thomas, P.S. and N.C. Nevin, Radiological Findings in the Door Syndrome. Annales De Radiologie, 1982. 25(1): p. 54-58.

87.       Walby, A.P., et al., Tissue-Culture of Surgically Prepared Temporalis Fascia. Clinical Otolaryngology, 1982. 7(5): p. 313-317.

88.       Nevin, G.B., N.C. Nevin, and A.O. Redmond, Prevalence and Survival of Patients with Cystic-Fibrosis in Northern-Ireland, 1961-1971. Ulster Medical Journal, 1983. 52(2): p. 153-156.

89.      Nevin, N.C., et al., Partial Trisomy-16q in 2 Boys Resulting from a Maternal Translocation, T(15-16) (P12-Q11). Clinical Genetics, 1983. 24(5): p. 375-379.

90.       Nevin, N.C., et al., Antenatal Detection of Grossly Distended Bladder Owing to Absence of the Urethra in a Fetus with Trisomy-18. Journal of Medical Genetics, 1983. 20(2): p. 132-133.

91.       Nevin, N.C., et al., Cystic Hygroma Simulating an Encephalocele. Prenatal Diagnosis, 1983. 3(3): p. 249-252.

92.       Smithells, R.W., et al., Vitamins and Neural-Tube Defects - Reply. Lancet, 1983. 2(8353): p. 799-799.

93.       Smithells, R.W., et al., Vitamin Supplementation and Neural-Tube Defects - Reply. Lancet, 1983. 2(8340): p. 40-40.

94.       Smithells, R.W., et al., Further Experience of Vitamin Supplementation for Prevention of Neural-Tube Defect Recurrences. Lancet, 1983. 1(8332): p. 1027-1031.

95.      Connolly, J.H., et al., Outcome of Pregnancy in a Rubella Outbreak in Northern-Ireland 1978-1979. Ulster Medical Journal, 1984. 53(1): p. 65-73.

96.       Graham, C.A., A.E. Hughes, and N.C. Nevin, Differences in Proteins Secreted by Human-Fibroblasts and Muscle-Cells in Culture. Experimental Cell Research, 1984. 154(1): p. 320-325.

97.       Nevin, N.C., Duchenne Muscular-Dystrophy in a Female with a Balanced X/Autosomal Translocation. Irish Journal of Medical Science, 1984. 153(4): p. 156-156.

98.       Nevin, N.C., Genetics and Birth-Defects in Clinical-Practice - Feingold,M, Pashayan,H. Lancet, 1984. 1(8389): p. 1274-1274.

99.       Nevin, N.C., Congenital Disorders in Northern-Ireland. Bulletin of the British Psychological Society, 1984. 37(May): p. A80-A80.

100.    Seller, M.J. and N.C. Nevin, Periconceptional Vitamin Supplementation and the Prevention of Neural-Tube Defects in Northern-Ireland and Southeast England. Journal of Medical Genetics, 1984. 21(2): p. 140-140.

101.    Seller, M.J. and N.C. Nevin, Periconceptional Vitamin Supplementation and the Prevention of Neural-Tube Defects in Southeast England and Northern-Ireland. Journal of Medical Genetics, 1984. 21(5): p. 325-330.

102.    Seller, M.J. and N.C. Nevin, Periconceptional Vitamin Supplementation and the Prevention of Neural-Tube Defects - Reply. Journal of Medical Genetics, 1985. 22(5): p. 412-413.

103.    Smithells, R.W., et al., Neural-Tube Defects and Vitamins - the Need for a Randomized Clinical-Trial. British Journal of Obstetrics and Gynaecology, 1985. 92(2): p. 185-186.

104.    Steele, K. and N.C. Nevin, Familial Omphalocele. Ulster Medical Journal, 1985. 54(2): p. 214-215.

105.    Cooper, T.K., et al., A Population Survey in Northern-Ireland of Pregnancy in Insulin-Dependent Diabetics, 1979-1983. Irish Journal of Medical Science, 1986. 155(9): p. 335-335.

106.    Graham, C.A., A.E. Hughes, and N.C. Nevin, Identification of Cell-Types in Human-Muscle Cultures Using Two-Dimensional Polyacrylamide-Gel Electrophoresis and Immunofluorescence with Monoclonal-Antibodies. Biochemical Society Transactions, 1986. 14(2): p. 451-452.

107.    Nevin, N.C., et al., Duchenne Muscular-Dystrophy in a Female with a Translocation Involving Xp21. Journal of Medical Genetics, 1986. 23(2): p. 171-173.

108.    Nevin, N.C., P.S. Thomas, and J. Hutchinson, Syndrome of Short Stature, Microcephaly, Mental-Retardation, and Multiple Epiphyseal Dysplasia Lowry-Wood Syndrome. American Journal of Medical Genetics, 1986. 24(1): p. 33-39.

109.    Stefani, L.A., et al., Chromosome-21 Specific DNA-Sequences and Their Expression in down-Syndrome. Journal of Medical Genetics, 1986. 23(2): p. 166-166.

110.    Stefani, L.A.J., et al., Isolation of Chromosome-21-Specific Sequences Responsible for the Phenotypic-Expression of Downs-Syndrome. Biochemical Society Transactions, 1986. 14(2): p. 476-477.

111.    Wild, J., et al., Recurrent Neural-Tube Defects, Risk-Factors and Vitamins. Archives of Disease in Childhood, 1986. 61(5): p. 440-444.

112.    Connor, J.M., et al., Linkage Analysis in Families with the Fragile-X Syndrome Using Cx55-7 (Dxs105). Cytogenetics and Cell Genetics, 1987. 46(1-4): p. 598-598.

113.    Connor, J.M., et al., Linkage Analysis in Families with the Fragile X Syndrome Using Cx55-7 (Dxs105). Journal of Medical Genetics, 1987. 24(10): p. 635-635.

114.    Nevin, N.C., Spina-Bifida in South-Wales - Can It Be Prevented - James,N. Child Care Health and Development, 1987. 13(1): p. 72-73.

115.    Nevin, N.C., M.J. Seller, and R.W. Smithells, Product License for Pregnavite Forte F. Lancet, 1987. 2(8557): p. 516-516.

116.    Stefani, L.A.J., A.V. Palmer, and N.C. Nevin, The Expression of Chromosome-21 Specific Sequences in Normal and down-Syndrome Cell-Lines and Tissues. Heredity, 1987. 59: p. 160-160.

117.    Graham, C.A., et al., Linkage Analysis in a Family with X-Linked Anophthalmos. Journal of Medical Genetics, 1988. 25(9): p. 643-643.

118.    Graham, C.A., et al., Characterization of Human-Skin Fibroblast Extracellular Proteins by Two-Dimensional Polyacrylamide-Gel Electrophoresis. Electrophoresis, 1988. 9(7): p. 343-351.

119.    Humphries, M.W., N.C. Nevin, and M.A.W. Woolridge, Cytogenetic Investigations in a Family with Ataxia Telangiectasia. Journal of Medical Genetics, 1988. 25(9): p. 645-645.

120.    Jones, J. and N.C. Nevin, Deletion of 15q in 2 Patients with Non-Prader-Willi Syndrome Phenotypes. Journal of Medical Genetics, 1988. 25(9): p. 642-643.

121.    Mclean, W.H.I., et al., Rabbit Antiserum against Proteins Secreted by Human-Fibroblasts. Biochemical Society Transactions, 1988. 16(3): p. 375-376.

122.    Nevin, N.C., Prevention and Avoidance of Congenital-Malformations. Philosophical Transactions of the Royal Society of London Series B-Biological Sciences, 1988. 319(1194): p. 309-314.

123.    Osterberg, P.H., et al., Familial Expansile Osteolysis - a New Dysplasia. Journal of Bone and Joint Surgery-British Volume, 1988. 70(2): p. 255-260.

124.    Stefani, L., et al., Expression of Chromosome-21 Specific Sequences in Normal and Downs-Syndrome Tissues. Nucleic Acids Research, 1988. 16(7): p. 2885-2896.

125.    Stefani, L.A.J., et al., The Expression of Sequences Which Map to Chromosome 21 in Normal and Downs-Syndrome Tissues. Biochemical Society Transactions, 1988. 16(2): p. 171-172.

126.    Barr, R.J., et al., Idiopathic Multicentric Osteolysis - Report of 2 New Cases and a Review of the Literature. American Journal of Medical Genetics, 1989. 32(4): p. 556-556.

127.    Hill, A.J.M., et al., Linkage Disequilibrium and Cf Allele Segregation Analysis in Cystic-Fibrosis Families in Northern-Ireland. Human Genetics, 1989. 83(4): p. 391-394.

128.    Humphreys, M.W., N.C. Nevin, and M.A.W. Wooldridge, Cytogenetic Investigations in a Family with Ataxia Telangiectasia. Human Genetics, 1989. 83(1): p. 79-82.

129.    Little, J. and N.C. Nevin, Congenital-Anomalies in Twins in Northern-Ireland .2. Neural-Tube Defects, 1974-1979. Acta Geneticae Medicae Et Gemellologiae, 1989. 38(1-2): p. 17-25.

130.    Little, J. and N.C. Nevin, Congenital-Anomalies in Twins in Northern-Ireland .3. Anomalies of the Cardiovascular-System, 1974-1978. Acta Geneticae Medicae Et Gemellologiae, 1989. 38(1-2): p. 27-35.

131.    Little, J. and N.C. Nevin, Congenital-Anomalies in Twins in Northern-Ireland .1. Anomalies in General and Specific Anomalies Other Than Neural-Tube Defects and of the Cardiovascular-System, 1974-1979. Acta Geneticae Medicae Et Gemellologiae, 1989. 38(1-2): p. 1-16.

132.    Mcmillan, S.A., et al., T-Cell Receptor Beta-Chain Polymorphisms Are Associated with Cystic-Fibrosis. Journal of Medical Genetics, 1989. 26(7): p. 431-433.

133.    Nevin, N.C. and P.S. Thomas, Orofaciodigital Syndrome Type-Iv - Report of a Patient. American Journal of Medical Genetics, 1989. 32(2): p. 151-154.

134.    Sheppard, S., et al., Neural-Tube Defect Recurrence after Partial Vitamin Supplementation. Journal of Medical Genetics, 1989. 26(5): p. 326-329.

135.    Besley, G.T.N., et al., Prenatal-Diagnosis of Mucolipidosis-Ii by Early Amniocentesis. Lancet, 1990. 335(8698): p. 1164-1165.

136.    Boydell, L.R. and N.C. Nevin, Is Antenatal Selection for Spina-Bifida Possible. British Medical Journal, 1990. 301(6752): p. 608-608.

137.    Degroote, J., et al., Linkage Data for Marfan-Syndrome and Markers on Chromosome-1 and Chromosome-11. Journal of Medical Genetics, 1990. 27(2): p. 82-85.

138.    Dolk, H., et al., The Prevalence at Birth of down-Syndrome in 19 Regions of Europe 1980-86. Keys Issues in Mental Retardation Research, 1990: p. 3-11.

139.    Dolk, H. and N.C. Nevin, Downs-Syndrome and Fertility in Older Women. Lancet, 1990. 336(8713): p. 511-511.

140.    Graham, C.A., et al., Delta-F508 Mutation Analysis and Xv-Km Haplotype Study in Cystic-Fibrosis Patients in Northern-Ireland. Journal of Medical Genetics, 1990. 27(10): p. 657-657.

141.    Graham, C.A., A.J.M. Hill, and N.C. Nevin, Cystic-Fibrosis DNA Probe Anomalies - Crossover, Misdiagnosis, Non-Paternity or Sample Error. Journal of Medical Genetics, 1990. 27(3): p. 207-208.

142.    Graham, C.A., et al., X-Linked Retinitis-Pigmentosa - Recombinational Analysis and Carrier Estimation with the Proximal Xp Markers Xj1.1, Otc, and M27-Beta. Journal of Medical Genetics, 1990. 27(3): p. 209-209.

143.    Hawkins, S.A., N.C. Nevin, and A.E. Harding, Pontobulbar Palsy and Neurosensory Deafness (Brown-Vialetto-Vanlaere Syndrome) with Possible Autosomal Dominant Inheritance. Journal of Medical Genetics, 1990. 27(3): p. 176-179.

144.    Kelly, E.D., et al., Carrier Estimations in Duchenne Muscular-Dystrophy Families in Northern-Ireland Using Rflp Analysis. Journal of Medical Genetics, 1990. 27(2): p. 101-104.

145.    Mchenry, P.M., N.C. Nevin, and E.A. Bingham, The Association of Keratosis-Pilaris-Atrophicans with Hereditary Woolly Hair. Pediatric Dermatology, 1990. 7(3): p. 202-204.

146.    Mclean, W.H.I., B.J. Fogarty, and N.C. Nevin, Monoclonal-Antibody 1.4d1 Detects a Glycoprotein Secreted by Adult Human Skin Fibroblasts. Biochemical Society Transactions, 1990. 18(2): p. 278-279.

147.    Mclean, W.H.I., et al., Localization of a Human Fibroblast Extracellular Protein in Cells and Tissues by Monoclonal-Antibody. Biochemical Society Transactions, 1990. 18(2): p. 279-280.

148.    Mclean, W.H.I., et al., Reduced Secretion of Specific Proteins in Dystrophic Fibroblasts. Biochemical Society Transactions, 1990. 18(2): p. 281-282.

149.    Morrison, P.J., et al., Men2a - the Northern-Ireland Australian Pedigree. Journal of Medical Genetics, 1990. 27(10): p. 660-661.

150.    Morrison, P.J., et al., Cardiovascular-Abnormalities in the Oculoauriculovertebral Sequence (Goldenhar Syndrome). Journal of Medical Genetics, 1990. 27(10): p. 645-645.

151.    Morrison, P.J., et al., Multiple Endocrine Neoplasia Type-2a - the Investigation and Management of a Family on 2 Continents. British Journal of Surgery, 1990. 77(11): p. A1309-A1310.

152.    Nevin, J., et al., Early Amniocentesis - Experience of 222 Consecutive Patients, 1987-1988. Prenatal Diagnosis, 1990. 10(2): p. 79-83.

153.    Nevin, N.C. and J.H.K. Lim, Syndrome of Partial Aniridia, Cerebellar-Ataxia, and Mental-Retardation - Gillespie Syndrome. American Journal of Medical Genetics, 1990. 35(4): p. 468-469.

154.    Nevin, N.C., et al., Inverted Tandem Duplication of 8p12-]P23-1 in a Child with Increased Activity of Glutathione-Reductase. Journal of Medical Genetics, 1990. 27(2): p. 135-136.

155.    Nevin, N.C. and M.J. Seller, Prevention of Neural-Tube-Defect Recurrences. Lancet, 1990. 335(8682): p. 178-179.

156.    Redmond, R.M., et al., DNA Analysis and Recombination in X-Linked Retinitis-Pigmentosa. Eye, 1990. 4: p. 204-209.

157.    Seller, M.J. and N.C. Nevin, Vitamins during Pregnancy and Neural-Tube Defects. Jama-Journal of the American Medical Association, 1990. 263(20): p. 2749-2749.

158.    Campbell, W.J., et al., Can Fundoscopy Identify Patients with the Gene Causing Familial Adenomatous Polyposis. Gut, 1991. 32(5): p. A558-A559.

159.    Ennis, K.T., et al., Purification of Monocyte Esterase Using Narrow Range (Ph 5.6-6.6) Immobilized Ph Gradient Electrophoresis. Biochemical Society Transactions, 1991. 19(1): p. S58-S58.

160.    Graham, C.A., et al., Linkage Analysis in Fragile-X Syndrome. Cytogenetics and Cell Genetics, 1991. 58(3-4): p. 2065-2065.

161.    Graham, C.A., et al., 2 New Mutations in the Cftr Gene - 557delt in Exon-4 and R297q in Exon-7. Cytogenetics and Cell Genetics, 1991. 58(3-4): p. 1921-1921.

162.    Graham, C.A., R.M. Redmond, and N.C. Nevin, X-Linked Clinical Anophthalmos - Localization of the Gene to Xq27-Xq28. Ophthalmic Paediatrics and Genetics, 1991. 12(1): p. 43-48.

163.    Hill, A.J.M., et al., Mutation Analysis in the Cftr Gene and Genotype-Phenotype Comparisons. Cytogenetics and Cell Genetics, 1991. 58(3-4): p. 1922-1923.

164.    Magee, A.C., et al., Chorionic Villus Sampling for Downs-Syndrome. Lancet, 1991. 337(8755): p. 1480-1481.

165.    Mclean, W.H.I., et al., Protein-Analysis in Epidermolysis-Bullosa. Biochemical Society Transactions, 1991. 19(1): p. S60-S60.

166.    Morrison, P.J., et al., Gene Probe Analysis in an Informative Family with Multiple Endocrine Neoplasia Syndrome Type-2a (Men-2a) - Improvement in Carrier Risk-Estimation. Quarterly Journal of Medicine, 1991. 80(291): p. 597-603.

167.    Morrison, P.J. and N.C. Nevin, Nondirective Genetic-Counseling. Lancet, 1991. 338(8777): p. 1267-1267.

168.    Morrison, P.J., et al., Presymptomatic Screening for Men-2a. Lancet, 1991. 337(8736): p. 299-299.

169.    Morrison, P.J., N.C. Nevin, and R.W. Kendrick, Unknown Syndrome - Proportionate Short Stature, Mandibular Prognathism, and Short Femoral Necks. Journal of Medical Genetics, 1991. 28(6): p. 422-423.

170.    Nevin, J., et al., Early Amniocentesis - Clinical and Cytogenetic Evaluation of 500 Cases. American Journal of Human Genetics, 1991. 49(4): p. 226-226.

171.    Nevin, N.C., A.E. Hill, and D.J. Carson, Facio-Cardio-Renal (Eastman-Bixler) Syndrome. American Journal of Medical Genetics, 1991. 40(1): p. 31-33.

172.    Priest, F.J. and N.C. Nevin, False Positive Results with Immunoreactive Trypsinogen Screening for Cystic-Fibrosis Owing to Trisomy-13. Journal of Medical Genetics, 1991. 28(8): p. 575-576.

173.    Shearman, A.M., et al., Evidence against Linkage of Familial Expansile Osteolysis to the Retinoblastoma Gene or Other Loci on Chromosome-13. Cytogenetics and Cell Genetics, 1991. 58(3-4): p. 1984-1984.

174.    Tubman, T.R.J., et al., Congenital Heart-Disease in Downs-Syndrome - 2-Year Prospective Early Screening Study. British Medical Journal, 1991. 302(6790): p. 1425-1427.

175.    Graham, C.A., et al., Identification of a Frameshift Mutation (557-Del-T) in Exon-4 of the Cftr Gene. Genomics, 1992. 12(4): p. 854-855.

176.    Mckenna, K.E., et al., Linkage of Epidermolysis-Bullosa Simplex to Keratin Gene Loci. Journal of Medical Genetics, 1992. 29(8): p. 568-570.

177.    Montgomery, R.C., N.C. Nevin, and D.J. King, Macha Curse - an Ulster Pedigree. Irish Journal of Psychological Medicine, 1992. 9(2): p. 115-119.

178.    Morrison, P.J., J. Jones, and N.C. Nevin, Interstitial Deletion 8p21.3-]P23.1 in a 6-Year-Old Girl. American Journal of Medical Genetics, 1992. 42(5): p. 678-680.

179.    Morrison, P.J., et al., Cardiovascular-Abnormalities in the Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome). American Journal of Medical Genetics, 1992. 44(4): p. 425-428.

180.    Nevin, N.C., et al., Orofaciodigital Syndrome Type-Iv - Report of a Patient. American Journal of Medical Genetics, 1992. 43(5): p. 902-904.

181.    Redmond, R.M., et al., Prenatal Exclusion of Norries Disease. British Journal of Ophthalmology, 1992. 76(8): p. 491-493.

182.    Graham, C.A., et al., Lack of Association between Myelin Basic-Protein Gene Microsatellite and Multiple-Sclerosis. Lancet, 1993. 341(8860): p. 1596-1596.

183.    Macmillan, J.C., et al., Identification of an Expanded Cag Repeat in the Huntingtons-Disease Gene (It15) in a Family Reported to Have Benign Hereditary Chorea. Journal of Medical Genetics, 1993. 30(12): p. 1012-1013.

184.    Morrison, P.J., C.A. Graham, and N.C. Nevin, Significant Linkage Disequilibrium between the Huntingtons-Disease Locus and Markers at Loci D4s10, D4s95, and D4s111 in Northern-Ireland. Journal of Medical Genetics, 1993. 30(12): p. 1018-1019.

185.    Morrison, P.J., C.A. Graham, and N.C. Nevin, DNA Storage and Duplicate Sampling - Lessons Learnt from Testing for Huntingtons-Disease. Journal of Medical Genetics, 1993. 30(12): p. 1042-1042.

186.    Morrison, P.J. and N.C. Nevin, Huntington Disease in County Donegal - Epidemiologic Trends over 4 Decades. Ulster Medical Journal, 1993. 62(2): p. 141-144.

187.    Morrison, P.J. and N.C. Nevin, Peutz-Jeghers Syndrome. New England Journal of Medicine, 1993. 329(11): p. 774-774.

188.    Stewart, F.J., N.C. Nevin, and V.E. Boston, Poland Anomaly with a Limb Body Wall Disruption Defect. American Journal of Medical Genetics, 1993. 46(3): p. 350-350.

189.    Stewart, F.J., N.C. Nevin, and S. Brown, Axial Mesodermal Dysplasia Spectrum. American Journal of Medical Genetics, 1993. 45(4): p. 426-429.

190.    Todd, D.J., et al., Identification of a Single-Base Pair Deletion (40 Del-G) in Exon-1 of the Ferrochelatase Gene in Patients with Erythropoietic Protoporphyria. Human Molecular Genetics, 1993. 2(9): p. 1495-1496.

191.    Wright, G.D., et al., Genetic-Linkage Analysis, Clinical-Features and Prognosis of Autosomal-Dominant Polycystic Kidney-Disease in Northern-Ireland. Quarterly Journal of Medicine, 1993. 86(7): p. 459-463.

192.    Wright, G.D., et al., Autosomal-Dominant Polycystic Kidney-Disease with Minimal Clinical Expression Unlinked to the Pkd1 Locus. Nephrology Dialysis Transplantation, 1993. 8(6): p. 491-494.

193.    Cornel, M.C., et al., Variation in Prenatal Cytogenetic Diagnosis - Policies in 13 European Countries, 1989-1991. Prenatal Diagnosis, 1994. 14(5): p. 337-344.

194.    Fogarty, D.G., et al., Functional Genetic-Markers of the Renin-Angiotensin System and the Risk of Diabetic Nephropathy (Dn) in Insulin-Dependent Diabetes-Mellitus (Iddm). Journal of the American Society of Nephrology, 1994. 5(3): p. 376-376.

195.    Fogarty, D.G., et al., Ace Gene Typing. Lancet, 1994. 343(8901): p. 851-851.

196.    Glaser, T., et al., Absence of Pax6 Gene-Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar-Ataxia, and Mental-Retardation). Genomics, 1994. 19(1): p. 145-148.

197.    Hanna, E.J., N.C. Nevin, and J. Nelson, Genetic-Study of Congenital Heart-Defects in Northern-Ireland (1974-1978). Journal of Medical Genetics, 1994. 31(11): p. 858-863.

198.    Hughes, A.E., et al., Genetic-Linkage of Familial Expansile Osteolysis to Chromosome 18q. Human Molecular Genetics, 1994. 3(2): p. 359-361.

199.    Jefferson, J.A., et al., Autosomal-Dominant Hereditary Nephritis Unlinked to 9 Candidate Genes Expressed in the Glomerular-Basement-Membrane. Journal of the American Society of Nephrology, 1994. 5(3): p. 647-647.

200.    Jefferson, J.A., et al., Autosomal-Dominant Alport Syndrome Linked to Markers on 2q Flanking the Col4a3 Col4a4 Genes. Journal of the American Society of Nephrology, 1994. 5(3): p. 647-647.

201.    Magee, A.C., M. Humphries, and N.C. Nevin, A Case of Direct Duplication of Part of 2p - Related to Paternal Pericentric-Inversion of Chromosome-2. Journal of Medical Genetics, 1994. 31(2): p. 169-169.

202.    Morrison, P.J. and N.C. Nevin, Serum Iron, Total Iron-Binding-Capacity and Ferritin in Early Huntington Disease Patients. Irish Journal of Medical Science, 1994. 163(5): p. 236-237.

203.    Morrison, P.J. and N.C. Nevin, Clinical-Features and Population-Genetics of Juvenile Huntingtons-Disease in Northern-Ireland. Journal of Medical Genetics, 1994. 31(2): p. 166-166.

204.    Nelson, J., N.C. Nevin, and E.J. Hanna, Polydactyly in a Carrier of the Gene for the Meckel Syndrome. American Journal of Medical Genetics, 1994. 53(3): p. 207-209.

205.    Nevin, N.C., et al., Oral-Facial-Digital Syndrome with Retinal Abnormalities - Ofds Type-Ix - a Further Case-Report. American Journal of Medical Genetics, 1994. 51(3): p. 228-231.

206.    Nevin, N.C., et al., Microcephaly with Large Anterior Fontanelle, Generalized Convulsions, Micropenis, and Distinct Anomalies of the Hands and Feet - Another Example of Wiedemann Syndrome. Clinical Genetics, 1994. 46(2): p. 205-208.

207.    Stewart, F.J., A.E. Hughes, and N.C. Nevin, Molecular Investigation of Patients with Prader-Willi-Syndrome. Ulster Medical Journal, 1994. 63(1): p. 122-122.

208.    Thornton, C.M., et al., Congenital Heart-Disease and Urinary-Tract Abnormalities in 2 Siblings with Door-Syndrome. Pediatric Pathology, 1994. 14(5): p. 797-803.

209.    Wright, G.D., et al., Linkage Disequilibrium between the Ca Microsatellite D16s283 and Pkd1. Journal of the American Society of Nephrology, 1994. 5(4): p. 1159-1160.

210.    Zschocke, J., et al., The Str System in the Human Phenylalanine-Hydroxylase Gene - True Fragment Length Obtained with Fluorescent-Labeled Pcr Primers. Acta Paediatrica, 1994. 83: p. 41-42.

211.    Zschocke, J., et al., Automated Sequencing Detects All Mutations in Northern Irish Patients with Phenylketonuria and Mild Hyperphenylalaninemia. Acta Paediatrica, 1994. 83: p. 37-38.

212.    Zschocke, J., et al., Non-Phenylketonuria Hyperphenylalaninemia in Northern-Ireland - Frequent Mutation Allows Screening and Early Diagnosis. Human Mutation, 1994. 4(2): p. 114-118.

213.    Zschocker, J., et al., Non-Phenylketonuria Hyperphenylalaninemia Mutations in Northern-Ireland. Journal of Medical Genetics, 1994. 31(2): p. 163-163.

214.    Calzolari, E., et al., Omphalocele and Gastroschisis in Europe - a Survey of 3-Million Births 1980-1990. American Journal of Medical Genetics, 1995. 58(2): p. 187-194.

215.    Mckinley, A.G., et al., Hereditary Breast-Cancer and Linkage Analysis to Brca1. British Journal of Surgery, 1995. 82(8): p. 1086-1088.

216.    Morrison, P.J., C.A. Graham, and N.C. Nevin, Phenotype Genotype Correlations in Huntingtons-Disease Patients in Northern-Ireland and the Republic-of-Ireland. Journal of Medical Genetics, 1995. 32(2): p. 147-148.

217.    Morrison, P.J., W.P. Johnston, and N.C. Nevin, The Epidemiology of Huntingtons-Disease in Northern-Ireland. Journal of Medical Genetics, 1995. 32(7): p. 524-530.

218.    Nevin, N.C., et al., Anonychia and Absence Hypoplasia of Distal Phalanges (Cooks-Syndrome) - Report of a 2nd Family. Journal of Medical Genetics, 1995. 32(8): p. 638-641.

219.    Smith, G.W., et al., Detection of Maternal Cell Contamination in Amniotic-Fluid Cell-Cultures Using Fluorescent-Labeled Microsatellites. Journal of Medical Genetics, 1995. 32(1): p. 61-64.

220.    Stewart, F.J., N.C. Nevin, and J.C. Dornan, Prenatal-Diagnosis of Smith-Lemli-Opitz Syndrome. American Journal of Medical Genetics, 1995. 56(3): p. 286-287.

221.    Ward, A.J., et al., 3 Novel Mutations in the Egf Precursor Homology Domain of the Low-Density-Lipoprotein Receptor Gene in Northern Irish Patients with Familial Hypercholesterolemia. Human Mutation, 1995. 6(3): p. 254-256.

222.    Zschocke, J., et al., Phenylketonuria Mutation Analysis in Northern-Ireland - a Rapid Stepwise Approach. American Journal of Human Genetics, 1995. 57(6): p. 1311-1317.

223.    Zschocke, J., et al., The Population-Genetics of Phenylketonuria in Northern-Ireland. Journal of Medical Genetics, 1995. 32(2): p. 143-143.

224.    Droogan, A.G., et al., T-cell receptor alpha, beta, gamma, and delta chain gene microsatellites show no association with multiple sclerosis. Neurology, 1996. 47(4): p. 1049-1053.

225.    Fogarty, D.G., et al., A molecular variant of angiotensinogen is associated with diabetic nephropathy in IDDM. Diabetes, 1996. 45(9): p. 1204-1208.

226.    Hughes, D.J., et al., Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for similar to 94% of CF chromosomes. Human Mutation, 1996. 8(4): p. 340-347.

227.    Hughes, M.I., et al., The prevalence of inherited neuromuscular disease in Northern Ireland. Neuromuscular Disorders, 1996. 6(1): p. 69-73.

228.    Irvine, A.D., et al., An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. Journal of Medical Genetics, 1996. 33(11): p. 972-974.

229.    Irvine, A.D., et al., Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition. American Journal of Medical Genetics, 1996. 62(3): p. 213-215.

230.    McKinley, A.G., et al., Hereditary breast cancer in Northern Ireland. Ulster Medical Journal, 1996. 65(2): p. 113-117.

231.    Morrison, P.J. and N.C. Nevin, Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). Journal of Medical Genetics, 1996. 33(9): p. 779-782.

232.    Nevin, N.C. and A.E. Hughes, Familial expansile osteolysis: A genetic model of Paget's disease of bone. Qjm-Monthly Journal of the Association of Physicians, 1996. 89(11): p. 869-869.

233.    Nevin, N.C., H.C. Mulholland, and P.S. Thomas, Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. American Journal of Medical Genetics, 1996. 66(1): p. 33-38.

234.    Stewart, F.J., et al., Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12. Clinical Genetics, 1996. 49(3): p. 152-155.

235.    Ward, A.J., et al., A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes. Atherosclerosis, 1996. 120(1-2): p. 83-91.

236.    Baraitser, M., et al., A syndrome of brachyphalangy, polydactyly and absent tibiae. Clinical Dysmorphology, 1997. 6(2): p. 111-121.

237.    Browne, G., et al., Von Hippel-Lindau disease: An important differential diagnosis sf polycystic kidney disease. Nephrology Dialysis Transplantation, 1997. 12(6): p. 1132-1136.

238.    Calvert, J.T., et al., Genetic heterogeneity in familial venous malformations syndrome (FVM). American Journal of Human Genetics, 1997. 61(4): p. A270-A270.

239.    Duly, E.B., et al., APO E genotype and familial hypercholesterolaemia. Annals of Clinical Biochemistry, 1997. 34: p. 534-536.

240.    Irvine, A.D., et al., A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. Journal of Investigative Dermatology, 1997. 109(6): p. 815-816.

241.    Kirk, C.W., et al., Tumour necrosis factor microsatellites show association with multiple sclerosis (vol 147, pg 21, 1997). Journal of the Neurological Sciences, 1997. 150(2): p. 183-183.

242.    Kirk, C.W., et al., Tumour necrosis factor microsatellites show association with multiple sclerosis. Journal of the Neurological Sciences, 1997. 147(1): p. 21-25.

243.    Magee, A., et al., Lethal multiple pterygium syndrome occurring in two female sibs. Journal of Medical Genetics, 1997. 34: p. 511-511.

244.    Morrison, P.J., T. Brown, and N.C. Nevin, Familial De Lange syndrome in a mother and daughter. Journal of Medical Genetics, 1997. 34: p. 509-509.

245.    Morrison, P.J., et al., Correlation of caudate nucleus area with triplet repeat size in affected Huntington disease patients and presymptomatic gene carriers - a prospective study. Journal of Medical Genetics, 1997. 34: p. 506-506.

246.    Nevin, N.C., et al., Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers. American Journal of Medical Genetics, 1997. 73(4): p. 412-415.

247.    Nicholls, D.P., et al., Nineteen LDL-receptor mutations identified using DGGE and fluorescent sequencing in familial hypercholesterolaemia patients in Northern Ireland. Atherosclerosis, 1997. 128(2): p. 5-5.

248.    Reardon, W., et al., Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. Journal of Medical Genetics, 1997. 34(8): p. 632-636.

249.    Stewart, F., C. Thornton, and N.C. Nevin, Omphalocele-exostrophy of bladder imperforate anus spinal defects (OEIS) syndrome in Northern Ireland. Journal of Medical Genetics, 1997. 34: p. 537-537.

250.    Yates, J.R.W., et al., Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Human Molecular Genetics, 1997. 6(13): p. 2265-2269.

251.    Zschocke, J., et al., Phenylketonuria and the peoples of Northern Ireland. Human Genetics, 1997. 100(2): p. 189-194.

252.    Covello, S.P., et al., Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. Journal of Investigative Dermatology, 1998. 111(6): p. 1207-1209.

253.    Irvine, A.D., et al., Evidence for a second genetic locus in Carney complex. British Journal of Dermatology, 1998. 139(4): p. 572-576.

254.    Magee, A.C., et al., De novo direct duplication 2 (p12 -> p21) with paternally inherited pericentric inversion 2p11.2 2q12.2. Clinical Genetics, 1998. 54(1): p. 65-69.

255.    Magee, A.C., et al., Ullrich-Turner syndrome: Seven pregnancies in an apparent 45,X woman. American Journal of Medical Genetics, 1998. 75(1): p. 1-3.

256.    Morrison, P.J., R.C. Lowry, and N.C. Nevin, Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance. Thorax, 1998. 53(2): p. 151-152.

257.    Morrison, P.J., et al., Laryngeal atresia or stenosis presenting as second-trimester fetal ascites diagnosis and pathology in three independent cases. Prenatal Diagnosis, 1998. 18(9): p. 963-967.

258.    Morrison, P.J., et al., Prevalence of tuberous sclerosis in UK. Lancet, 1998. 352(9124): p. 318-319.

259.    Morrison, P.J., et al., Confidential inquiry into families with two siblings with cystic fibrosis. Archives of Disease in Childhood, 1998. 78(6): p. 578-578.

260.    Nevin, N.C., Future of gene therapy. Hospital Medicine, 1998. 59(12): p. 977-977.

261.    Nevin, N.C., Experience of gene therapy in the United Kingdom. Xenotransplantation, 1998. 862: p. 184-187.

262.    Tharmaratnam, S., et al., Transplacental early amniocentesis and pregnancy outcome. British Journal of Obstetrics and Gynaecology, 1998. 105(2): p. 228-230.

263.    Tharmaratnam, S., et al., Early amniocentesis: Effect of removing a reduced volume of amniotic fluid on pregnancy outcome. Prenatal Diagnosis, 1998. 18(8): p. 773-778.

264.    Asghar, M., et al., Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci. Journal of Inherited Metabolic Disease, 1999. 22(8): p. 933-935.

265.    Bhat, M. and N.C. Nevin, Wilson disease presenting as renal rickets. Journal of Medical Genetics, 1999. 36: p. S62-S62.

266.    Calvert, J.T., et al., Allelic and locus heterogeneity in inherited venous malformations. Human Molecular Genetics, 1999. 8(7): p. 1279-1289.

267.    Calvert, J.T., et al., A second locus for inherited venous malformations maps to chromosome 1p. American Journal of Human Genetics, 1999. 65(4): p. A17-A17.

268.    Denison, C.K., et al., Gene Therapy Advisory Committee - Report on the potential use of gene therapy in utero. Human Gene Therapy, 1999. 10(4): p. 689-692.

269.    Magee, A., et al., Reproductive counselling for women with myotonic dystrophy. Journal of Medical Genetics, 1999. 36: p. S58-S58.

270.    McNicholl, F., et al., Hereditary benign telangiectasia - first family in Northern Ireland. Ulster Medical Journal, 1999. 68(2): p. 106-107.

271.    Moller, P., et al., Guidelines for follow-up of women at high risk for inherited breast cancer: Consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer. Disease Markers, 1999. 15(1-3): p. 207-211.

272.    Morrison, P., C. Chu, and N.C. Nevin, CRAC (colorectal adenoma and carcinoma) syndrome - a second case of a new familial cancer syndrome. Journal of Medical Genetics, 1999. 36: p. S59-S59.

273.    Morrison, P., et al., Discrimination, breast cancer testing and insurance in 14 European centres. Journal of Medical Genetics, 1999. 36: p. S73-S73.

274.    Morrison, P.J., C.E. Chu, and N.C. Nevin, A second family with probable CRAC (colorectal adenomata and carcinoma) syndrome - A new familial cancer. Disease Markers, 1999. 15(1-3): p. 120-122.

275.    Morrison, P.J. and N.C. Nevin, Cancer genetics services in Northern Ireland. Disease Markers, 1999. 15(1-3): p. 37-40.

276.    Morrison, P.J. and N.C. Nevin, Familial ossification of the stylohyoid ligament in a three generation family a new clinical entity displaying autosomal dominant inheritance. Journal of Medical Genetics, 1999. 36: p. S67-S67.

277.    Morrison, P.J., et al., Insurance implications for individuals with a high risk of breast and ovarian cancer in Europe. Disease Markers, 1999. 15(1-3): p. 159-165.

278.    Nevin, N.C., Supervision and regulation of somatic-cell gene therapy in the United Kingdom. Human Gene Therapy, 1999. 10(5): p. 846-846.

279.    Nevin, N.C., A.G. Leonard, and B. Jones, Frontonasal dysostosis in two successive generations. American Journal of Medical Genetics, 1999. 87(3): p. 251-253.

280.    Nevin, N.C., et al., Melorheostosis in a family with autosomal dominant osteopoikilosis. American Journal of Medical Genetics, 1999. 82(5): p. 409-414.

281.    Bhat, M., et al., First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH. American Journal of Medical Genetics, 2000. 91(3): p. 201-203.

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