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Author index

November 2001, Volume 38, Issue 11

  1. A
  2. B
  3. C
  4. D
  5. E
  6. F
  7. G
  8. H
  9. I
  10. J
  11. K
  12. L
  13. M
  14. N
  15. O
  16. P
  17. Q
  18. R
  19. S
  20. T
  21. U
  22. V
  23. W
  24. X
  25. Y
  26. Z

A

  1. Adoun, Michèle

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  2. Akbas, Fahri

    • Molecular and clinical study of two myotonic dystrophy homozygotes J Med Genet 2001;38:e40 doi:10.1136/jmg.38.11.e40

  3. Aktan-Collan, Katja

    • Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer J Med Genet 2001;38:787-792 doi:10.1136/jmg.38.11.787

  4. Alvarado, David

    • Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM J Med Genet 2001;38:e39 doi:10.1136/jmg.38.11.e39

  5. Amaral, Margarida D

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  6. Amiel, Jeanne

    • Hirschsprung disease, associated syndromes, and genetics: a review J Med Genet 2001;38:729-739 doi:10.1136/jmg.38.11.729

  7. Angelopoulou, Roxani

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

  8. Aysal, Fikret

    • Molecular and clinical study of two myotonic dystrophy homozygotes J Med Genet 2001;38:e40 doi:10.1136/jmg.38.11.e40

B

  1. Barreto, Celeste

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  2. Baser, Michael E

    • Maternal gene effect in neurofibromatosis 2: fact or artefact? J Med Genet 2001;38:783-784 doi:10.1136/jmg.38.11.783

  3. Baumann, C

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  4. Beck, Sebastian

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  5. Benzacken, Brigitte

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

  6. Berthaut, Isabelle

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

  7. Bienvenu, Thierry

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  8. Bierla, Joanna

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

  9. Birembaut, Philippe

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  10. Blayau, Martine

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  11. Boer, H

    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region J Med Genet 2001;38:792-798 doi:10.1136/jmg.38.11.792

  12. Bost, M

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  13. Butler, J

    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region J Med Genet 2001;38:792-798 doi:10.1136/jmg.38.11.792

C

  1. Cabanas, Rodrigo

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  2. Casals, Teresa

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  3. Castro, Massimo

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  4. Caulder, Mark S

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  5. Cazeneuve, Cécile

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  6. Chatelain, P

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  7. Chomel, Jean-Claude

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  8. Clarke, D

    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region J Med Genet 2001;38:792-798 doi:10.1136/jmg.38.11.792

  9. Claustres, Mireille

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  10. Clavel, Christine

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  11. Colistro, Franco

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  12. Cordier, M P

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  13. Cormier-Daire, V

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  14. Cousin, J

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  15. Cuppens, Harry

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

D

  1. Dadoune, Jean Pierre

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

  2. Dagenais, Susan L

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  3. Dallapiccola, Bruno

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  4. Dapena, Javier

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  5. De Boeck, Kris

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  6. Deymeer, Feza

    • Molecular and clinical study of two myotonic dystrophy homozygotes J Med Genet 2001;38:e40 doi:10.1136/jmg.38.11.e40

  7. Digilio, Maria Cristina

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  8. Doudounakis, Stavros

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  9. Downing, Sarah

    • Thrombophilic polymorphisms in pre-eclampsia: altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa J Med Genet 2001;38:775-777 doi:10.1136/jmg.38.11.775

  10. Downs, Catherine A

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  11. Dörk, Thilo

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

E

  1. Eller, Philipp

    • Wolfram syndrome: a clinical and molecular genetic analysis J Med Genet 2001;38:e37 doi:10.1136/jmg.38.11.e37

  2. Erginel-Unaltuna, Nihan

    • Molecular and clinical study of two myotonic dystrophy homozygotes J Med Genet 2001;38:e40 doi:10.1136/jmg.38.11.e40

  3. Erickson, Robert P

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  4. Estivill, Xavier

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  5. Evans, D Gareth R

    • Maternal gene effect in neurofibromatosis 2: fact or artefact? J Med Genet 2001;38:783-784 doi:10.1136/jmg.38.11.783

F

  1. Faivre, L

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  2. Farinha, Carlos M

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  3. Ferretti, Francesca

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  4. Finidori, G

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  5. Fink, John K

    • Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM J Med Genet 2001;38:e39 doi:10.1136/jmg.38.11.e39

  6. Finkenstedt, Gerd

    • Wolfram syndrome: a clinical and molecular genetic analysis J Med Genet 2001;38:e37 doi:10.1136/jmg.38.11.e37

  7. Foulkes, William D

    • Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET J Med Genet 2001;38:784-787 doi:10.1136/jmg.38.11.784

  8. Friedman, J M

    • Maternal gene effect in neurofibromatosis 2: fact or artefact? J Med Genet 2001;38:783-784 doi:10.1136/jmg.38.11.783

  9. Fu, Beiyuan

    • Thrombophilic polymorphisms in pre-eclampsia: altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa J Med Genet 2001;38:775-777 doi:10.1136/jmg.38.11.775

  10. Féréc, Claude

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  11. Föger, Bernhard

    • Wolfram syndrome: a clinical and molecular genetic analysis J Med Genet 2001;38:e37 doi:10.1136/jmg.38.11.e37

G

  1. Gaboury, Louis

    • Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET J Med Genet 2001;38:784-787 doi:10.1136/jmg.38.11.784

  2. Gambarara, Manuela

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  3. Gander, Roland

    • Wolfram syndrome: a clinical and molecular genetic analysis J Med Genet 2001;38:e37 doi:10.1136/jmg.38.11.e37

  4. Gartner, Silvia

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  5. Georges, Marie des

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  6. Giannotti, Aldo

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  7. Girodon-Boulandet, Emmanuelle

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  8. Glover, Thomas W

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  9. Goossens, Michel

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

H

  1. HURST, LAURENCE D

    • Comparative Genomics. J Med Genet 2001;38:807 doi:10.1136/jmg.38.11.807

  2. Haukkala, Ari

    • Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer J Med Genet 2001;38:787-792 doi:10.1136/jmg.38.11.787

  3. Hedera, Peter

    • Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM J Med Genet 2001;38:e39 doi:10.1136/jmg.38.11.e39

  4. Heiman-Patterson, Terry

    • Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM J Med Genet 2001;38:e39 doi:10.1136/jmg.38.11.e39

  5. Herman, Gail

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  6. Holland, A J

    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region J Med Genet 2001;38:792-798 doi:10.1136/jmg.38.11.792

  7. Holmes, A

    • Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males J Med Genet 2001;38:750-760 doi:10.1136/jmg.38.11.750
    • Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 2001;38:769-775 doi:10.1136/jmg.38.11.769

  8. Hubert, Dominique

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

J

  1. Jaruzelska, Jadwiga

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

  2. Jedrzejczak, Piotr

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

  3. Jones, Marilyn C

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

K

  1. Kaji, Masayuki

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

  2. Kanafani, Samia

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

  3. Kanavakis, Emmanuel

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  4. Kasprzak, Lidia

    • Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET J Med Genet 2001;38:784-787 doi:10.1136/jmg.38.11.784

  5. Kawai, Masahiko

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

  6. Kerstjens-Frederikse, Wilhelmina S

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  7. Kikuchi, Seiji

    • Twenty CAG repeats are sufficient to cause the SCA6 phenotype J Med Genet 2001;38:e38 doi:10.1136/jmg.38.11.e38

  8. Kirchhoff, Maria

    • High resolution comparative genomic hybridisation in clinical cytogenetics J Med Genet 2001;38:740-744 doi:10.1136/jmg.38.11.740

  9. Kleopa, Kleopas A

    • Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM J Med Genet 2001;38:e39 doi:10.1136/jmg.38.11.e39

  10. Komeichi, Katsuhide

    • Twenty CAG repeats are sufficient to cause the SCA6 phenotype J Med Genet 2001;38:e38 doi:10.1136/jmg.38.11.e38

  11. Korcz, Aleksandra

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

  12. Kotecki, Maciej

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

  13. Kääriäinen, Helena

    • Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer J Med Genet 2001;38:787-792 doi:10.1136/jmg.38.11.787

L

  1. Lavinha, João

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  2. Le Bourhis, Corine

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

  3. Le Merrer, M

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  4. Lechleitner, Monika

    • Wolfram syndrome: a clinical and molecular genetic analysis J Med Genet 2001;38:e37 doi:10.1136/jmg.38.11.e37

  5. Lidral, Andrew C

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  6. Lopes, Beatriz

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  7. Lundsteen, Claes

    • High resolution comparative genomic hybridisation in clinical cytogenetics J Med Genet 2001;38:740-744 doi:10.1136/jmg.38.11.740

  8. Lyonnet, Stanislas

    • Hirschsprung disease, associated syndromes, and genetics: a review J Med Genet 2001;38:729-739 doi:10.1136/jmg.38.11.729

M

  1. MacDermot, K D

    • Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males J Med Genet 2001;38:750-760 doi:10.1136/jmg.38.11.750
    • Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 2001;38:769-775 doi:10.1136/jmg.38.11.769

  2. Mamada, Mitsukazu

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

  3. Maroteaux, P

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  4. McDonald, Marie

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  5. Mecklin, Jukka-Pekka

    • Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer J Med Genet 2001;38:787-792 doi:10.1136/jmg.38.11.787

  6. Miners, A H

    • Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males J Med Genet 2001;38:750-760 doi:10.1136/jmg.38.11.750
    • Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 2001;38:769-775 doi:10.1136/jmg.38.11.769

  7. Momoi, Toru

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

  8. Morris, Nicholas H

    • Thrombophilic polymorphisms in pre-eclampsia: altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa J Med Genet 2001;38:775-777 doi:10.1136/jmg.38.11.775

  9. Munnich, A

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  10. Muroi, Junko

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

N

  1. Nakahata, Tatsutoshi

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

  2. Nelson, Christine C

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  3. Nogueira, Paulo

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  4. Nolet, Serge

    • Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET J Med Genet 2001;38:784-787 doi:10.1136/jmg.38.11.784

O

  1. O'Shaughnessy, Kevin M

    • Thrombophilic polymorphisms in pre-eclampsia: altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa J Med Genet 2001;38:775-777 doi:10.1136/jmg.38.11.775

  2. Olveira, Casilda

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  3. Oriola, Josep

    • Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET J Med Genet 2001;38:784-787 doi:10.1136/jmg.38.11.784

P

  1. Pacheco, Paula

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  2. Page, David C

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

  3. Patsch, Josef R

    • Wolfram syndrome: a clinical and molecular genetic analysis J Med Genet 2001;38:e37 doi:10.1136/jmg.38.11.e37

  4. Pavia, Carles

    • Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET J Med Genet 2001;38:784-787 doi:10.1136/jmg.38.11.784

  5. Pawelczyk, Leszek

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

  6. Penque, Deborah

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  7. Polak, M

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  8. Pouliquen, J C

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  9. Pérez-Frías, Javier

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

R

  1. Rainier, Shirley

    • Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM J Med Genet 2001;38:e39 doi:10.1136/jmg.38.11.e39

  2. Rivera-Fillat, Francisca

    • Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET J Med Genet 2001;38:784-787 doi:10.1136/jmg.38.11.784

  3. Rose, Hanne

    • High resolution comparative genomic hybridisation in clinical cytogenetics J Med Genet 2001;38:740-744 doi:10.1136/jmg.38.11.740

  4. Russell, K

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

S

  1. Sasaki, Hidenao

    • Twenty CAG repeats are sufficient to cause the SCA6 phenotype J Med Genet 2001;38:e38 doi:10.1136/jmg.38.11.e38

  2. Sauper, Teresa

    • Wolfram syndrome: a clinical and molecular genetic analysis J Med Genet 2001;38:e37 doi:10.1136/jmg.38.11.e37

  3. Serdaroglu, Piraye

    • Molecular and clinical study of two myotonic dystrophy homozygotes J Med Genet 2001;38:e40 doi:10.1136/jmg.38.11.e40

  4. Siffroi, Jean Pierre

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

  5. Smahi, Asmae

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

  6. Sulmont, V

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  7. Surmacz, Tatiana

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

T

  1. Tashiro, Kunio

    • Twenty CAG repeats are sufficient to cause the SCA6 phenotype J Med Genet 2001;38:e38 doi:10.1136/jmg.38.11.e38

  2. Tiberio, Giovanni

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  3. Tzetis, Maria

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  4. Tümmler, Burkhard

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

U

  1. Uematsu, Ayumi

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

  2. Uutela, Antti

    • Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer J Med Genet 2001;38:787-792 doi:10.1136/jmg.38.11.787

V

  1. Verlingue, Claudine

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  2. Vieira, Isabel

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

  3. Villabona, Carles

    • Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET J Med Genet 2001;38:784-787 doi:10.1136/jmg.38.11.784

  4. Virgilii, Fabio

    • Coeliac disease in Williams syndrome J Med Genet 2001;38:767-768 doi:10.1136/jmg.38.11.767

  5. Vásquez, Carlos

    • Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study J Med Genet 2001;38:777-783 doi:10.1136/jmg.38.11.777

W

  1. Webb, T

    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region J Med Genet 2001;38:792-798 doi:10.1136/jmg.38.11.792

  2. Whittington, J E

    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region J Med Genet 2001;38:792-798 doi:10.1136/jmg.38.11.792

  3. Witte, Marlys

    • Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations J Med Genet 2001;38:761-766 doi:10.1136/jmg.38.11.761

  4. Wojda, Alina

    • Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J Med Genet 2001;38:798-802 doi:10.1136/jmg.38.11.798

  5. Wolf, Jean Philippe

    • Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia J Med Genet 2001;38:802-806 doi:10.1136/jmg.38.11.802

Y

  1. Yabe, Ichiro

    • Twenty CAG repeats are sufficient to cause the SCA6 phenotype J Med Genet 2001;38:e38 doi:10.1136/jmg.38.11.e38

  2. Yamanaka, Chutaro

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

  3. Yamashita, Isao

    • Twenty CAG repeats are sufficient to cause the SCA6 phenotype J Med Genet 2001;38:e38 doi:10.1136/jmg.38.11.e38

  4. Yorifuji, Tohru

    • Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material J Med Genet 2001;38:e41 doi:10.1136/jmg.38.11.e41

Z

  1. Zackai, E

    • Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance J Med Genet 2001;38:745-749 doi:10.1136/jmg.38.11.745

  2. Zhao, Xinping

    • Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM J Med Genet 2001;38:e39 doi:10.1136/jmg.38.11.e39

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