J Med Genet -- Table of Contents (36 [11])

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November 1999 (Volume 36, Number 11). [Index by author]

		Review articles Original articles Short reports Letters to the editor

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Review articles

Genetic susceptibility to non-polyposis colorectal cancer
Henry T Lynch and Albert de la Chapelle
J Med Genet 1999; 36: 801-818. doi:10.1136/jmg.36.11.801 [Abstract] [Full text] [Appendix] [PDF] [Request Permissions]

Original articles

Strategies for screening for hereditary non-polyposis colorectal cancer
Anu Loukola, Albert de la Chapelle, and Lauri A Aaltonen
J Med Genet 1999; 36: 819-822. doi:10.1136/jmg.36.11.819 [Abstract] [Full text] [PDF] [Request Permissions]

A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
Silvère M van der Maarel, Giancarlo Deidda, Richard J L F Lemmers, Egbert Bakker, Michiel J R van der Wielen, Lodewijk Sandkuijl, Jane E Hewitt, George W Padberg, and Rune R Frants
J Med Genet 1999; 36: 823-828. doi:10.1136/jmg.36.11.823 [Abstract] [Full text] [PDF] [Request Permissions]

Cx26 deafness: mutation analysis and clinical variability
A Murgia, E Orzan, R Polli, M Martella, C Vinanzi, E Leonardi, E Arslan, and F Zacchello
J Med Genet 1999; 36: 829-832. doi:10.1136/jmg.36.11.829 [Abstract] [Full text] [PDF] [Request Permissions]

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
Georgios Loudianos, Valeria Dessi, Mario Lovicu, Andrea Angius, Buket Altuntas, Raffaella Giacchino, Maria Marazzi, Matilde Marcellini, Maria Rita Sartorelli, Giacomo Carlo Sturniolo, Nurten Kocak, Aysel Yuce, Nejat Akar, Mario Pirastu, and Antonio Cao
J Med Genet 1999; 36: 833-836. doi:10.1136/jmg.36.11.833 [Abstract] [Full text] [PDF] [Request Permissions]

The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
S M Price, R Stanhope, C Garrett, M A Preece, and R C Trembath
J Med Genet 1999; 36: 837-842. doi:10.1136/jmg.36.11.837 [Abstract] [Full text] [PDF] [Request Permissions]

Club foot, an adverse outcome of early amniocentesis: disruption or deformation?
S A Farrell, A M Summers, L Dallaire, J Singer, Jo-Ann M Johnson, and R D Wilson
J Med Genet 1999; 36: 843-846. doi:10.1136/jmg.36.11.843 [Abstract] [Full text] [PDF] [Request Permissions]

Origins of accessory small ring marker chromosomes derived from chromosome 1
D F Callen, H Eyre, Y-Y Fang, X-Y Guan, A Veleba, N J Martin, J McGill, and E A Haan
J Med Genet 1999; 36: 847-853. doi:10.1136/jmg.36.11.847 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype
Shelley J Kennedy, Kyong-Jin Lee, Brian W McCrindle, and Ahmad S Teebi
J Med Genet 1999; 36: 854-855. doi:10.1136/jmg.36.11.854 [Abstract] [Full text] [PDF] [Request Permissions]

Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?
U Moog, P Maroteaux, C T R M Schrander-Stumpel, A van Ooij, J J P Schrander, and J P Fryns
J Med Genet 1999; 36: 856-858. doi:10.1136/jmg.36.11.856 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

Ulcerative colitis is not associated with differences in MUC2 mucin allele length
DALLAS M SWALLOW, LYNNE E VINALL, JAMES R GUM, YOUNG S KIM, HUIYING YANG, JEROME I ROTTER, MUDDASSAR MIRZA, JOHN C W LEE, and JOHN E LENNARD-JONES
J Med Genet 1999; 36: 859-860. doi:10.1136/jmg.36.11.859 [Extract] [Full text] [PDF] [Request Permissions]

Mutation analysis of the DKC1 gene in incontinentia pigmenti
NINA S HEISS, ANNEMARIE POUSTKA, STUART W KNIGHT, SWAROOP ARADHYA, DAVID L NELSON, RICHARD A LEWIS, TERESA ESPOSITO, ALFREDO CICCODICOLA, MICHELE D'URSO, ASMAE SMAHI, SOLANGE HEUERTZ, ARNOLD MUNNICH, PIERRE VABRES, HAYLEY WOFFENDIN, and SUSAN KENWRICK
J Med Genet 1999; 36: 860-862. doi:10.1136/jmg.36.11.860 [Extract] [Full text] [Request Permissions]

A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
HATEM EL-SHANTI, MAHMOUD AL-SALEM, MAHMOUD EL-NAJJAR, KAMEL AJLOUNI, JOHN BECK, VAL C SHEFFIELD, and EDWIN M STONE
J Med Genet 1999; 36: 862-865. doi:10.1136/jmg.36.11.862 [Extract] [Full text] [Request Permissions]

Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation?
KAREN HELENE ØRSTAVIK, RAGNHILD ELISE ØRSTAVIK, and MARIANNE SCHWARTZ
J Med Genet 1999; 36: 865-866. doi:10.1136/jmg.36.11.865 [Extract] [Full text] [Request Permissions]

46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism
DAVID AMOR, MARTIN B DELATYCKI, MARLENE SUSMAN, ELLEN CASEY, TANIA NASH, GARRY WARNE, and JOHN HUTSON
J Med Genet 1999; 36: 866-869. doi:10.1136/jmg.36.11.866 [Extract] [Full text] [Request Permissions]

A dominant relationship between the ACE D allele and serum ACE levels in a Ghanaian population
S JEFFERY, A K SAGGAR MALIK, A CROSBY, M BLAND, J B EASTWOOD, J AMOAH-DANQUAH, J W ACHEAMPONG, and J PLANGE-RHULE
J Med Genet 1999; 36: 869-870. doi:10.1136/jmg.36.11.869 [Extract] [Full text] [Request Permissions]

Coexistence of Gaucher disease type 1 and Joubert syndrome
EUGEN J BOLTSHAUSER, BERNARD L MARIA;, A VAN ROYEN-KERKHOF, B T POLL-THE, and F A BEEMER
J Med Genet 1999; 36: 870-871. doi:10.1136/jmg.36.11.870 [Extract] [Full text] [Request Permissions]

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	Genetic susceptibility to non-polyposis colorectal cancer Henry T Lynch and Albert de la Chapelle J Med Genet 1999; 36: 801-818. doi:10.1136/jmg.36.11.801 [Abstract] [Full text] [Appendix] [PDF] [Request Permissions]

	Strategies for screening for hereditary non-polyposis colorectal cancer Anu Loukola, Albert de la Chapelle, and Lauri A Aaltonen J Med Genet 1999; 36: 819-822. doi:10.1136/jmg.36.11.819 [Abstract] [Full text] [PDF] [Request Permissions]

	A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD) Silvère M van der Maarel, Giancarlo Deidda, Richard J L F Lemmers, Egbert Bakker, Michiel J R van der Wielen, Lodewijk Sandkuijl, Jane E Hewitt, George W Padberg, and Rune R Frants J Med Genet 1999; 36: 823-828. doi:10.1136/jmg.36.11.823 [Abstract] [Full text] [PDF] [Request Permissions]

	Cx26 deafness: mutation analysis and clinical variability A Murgia, E Orzan, R Polli, M Martella, C Vinanzi, E Leonardi, E Arslan, and F Zacchello J Med Genet 1999; 36: 829-832. doi:10.1136/jmg.36.11.829 [Abstract] [Full text] [PDF] [Request Permissions]

	Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations Georgios Loudianos, Valeria Dessi, Mario Lovicu, Andrea Angius, Buket Altuntas, Raffaella Giacchino, Maria Marazzi, Matilde Marcellini, Maria Rita Sartorelli, Giacomo Carlo Sturniolo, Nurten Kocak, Aysel Yuce, Nejat Akar, Mario Pirastu, and Antonio Cao J Med Genet 1999; 36: 833-836. doi:10.1136/jmg.36.11.833 [Abstract] [Full text] [PDF] [Request Permissions]

	The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria S M Price, R Stanhope, C Garrett, M A Preece, and R C Trembath J Med Genet 1999; 36: 837-842. doi:10.1136/jmg.36.11.837 [Abstract] [Full text] [PDF] [Request Permissions]

	Club foot, an adverse outcome of early amniocentesis: disruption or deformation? S A Farrell, A M Summers, L Dallaire, J Singer, Jo-Ann M Johnson, and R D Wilson J Med Genet 1999; 36: 843-846. doi:10.1136/jmg.36.11.843 [Abstract] [Full text] [PDF] [Request Permissions]

	Origins of accessory small ring marker chromosomes derived from chromosome 1 D F Callen, H Eyre, Y-Y Fang, X-Y Guan, A Veleba, N J Martin, J McGill, and E A Haan J Med Genet 1999; 36: 847-853. doi:10.1136/jmg.36.11.847 [Abstract] [Full text] [PDF] [Request Permissions]

	Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype Shelley J Kennedy, Kyong-Jin Lee, Brian W McCrindle, and Ahmad S Teebi J Med Genet 1999; 36: 854-855. doi:10.1136/jmg.36.11.854 [Abstract] [Full text] [PDF] [Request Permissions]

	Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? U Moog, P Maroteaux, C T R M Schrander-Stumpel, A van Ooij, J J P Schrander, and J P Fryns J Med Genet 1999; 36: 856-858. doi:10.1136/jmg.36.11.856 [Abstract] [Full text] [PDF] [Request Permissions]

	*Ulcerative colitis is not associated with differences in MUC2* mucin allele length** DALLAS M SWALLOW, LYNNE E VINALL, JAMES R GUM, YOUNG S KIM, HUIYING YANG, JEROME I ROTTER, MUDDASSAR MIRZA, JOHN C W LEE, and JOHN E LENNARD-JONES J Med Genet 1999; 36: 859-860. doi:10.1136/jmg.36.11.859 [Extract] [Full text] [PDF] [Request Permissions]

	*Mutation analysis of the DKC1* gene in incontinentia pigmenti** NINA S HEISS, ANNEMARIE POUSTKA, STUART W KNIGHT, SWAROOP ARADHYA, DAVID L NELSON, RICHARD A LEWIS, TERESA ESPOSITO, ALFREDO CICCODICOLA, MICHELE D'URSO, ASMAE SMAHI, SOLANGE HEUERTZ, ARNOLD MUNNICH, PIERRE VABRES, HAYLEY WOFFENDIN, and SUSAN KENWRICK J Med Genet 1999; 36: 860-862. doi:10.1136/jmg.36.11.860 [Extract] [Full text] [Request Permissions]

	A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan HATEM EL-SHANTI, MAHMOUD AL-SALEM, MAHMOUD EL-NAJJAR, KAMEL AJLOUNI, JOHN BECK, VAL C SHEFFIELD, and EDWIN M STONE J Med Genet 1999; 36: 862-865. doi:10.1136/jmg.36.11.862 [Extract] [Full text] [Request Permissions]

	Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation? KAREN HELENE ØRSTAVIK, RAGNHILD ELISE ØRSTAVIK, and MARIANNE SCHWARTZ J Med Genet 1999; 36: 865-866. doi:10.1136/jmg.36.11.865 [Extract] [Full text] [Request Permissions]

	46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism DAVID AMOR, MARTIN B DELATYCKI, MARLENE SUSMAN, ELLEN CASEY, TANIA NASH, GARRY WARNE, and JOHN HUTSON J Med Genet 1999; 36: 866-869. doi:10.1136/jmg.36.11.866 [Extract] [Full text] [Request Permissions]

	*A dominant relationship between the ACE* D allele and serum ACE levels in a Ghanaian population** S JEFFERY, A K SAGGAR MALIK, A CROSBY, M BLAND, J B EASTWOOD, J AMOAH-DANQUAH, J W ACHEAMPONG, and J PLANGE-RHULE J Med Genet 1999; 36: 869-870. doi:10.1136/jmg.36.11.869 [Extract] [Full text] [Request Permissions]

	Coexistence of Gaucher disease type 1 and Joubert syndrome EUGEN J BOLTSHAUSER, BERNARD L MARIA;, A VAN ROYEN-KERKHOF, B T POLL-THE, and F A BEEMER J Med Genet 1999; 36: 870-871. doi:10.1136/jmg.36.11.870 [Extract] [Full text] [Request Permissions]