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July 1999 (Volume 36, Number 7). [Index by author]

		Review articles Original articles Short reports Letters to the editor

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Review articles

Mitochondrial DNA analysis: polymorphisms and pathogenicity
Patrick F Chinnery, Neil Howell, Richard M Andrews, and Douglass M Turnbull
J Med Genet 1999; 36: 505-510. doi:10.1136/jmg.36.7.505 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

Applications of comparative genomic hybridisation in constitutional chromosome studies
Claire J Breen, Lynn Barton, Aiveen Carey, Adam Dunlop, Mary Glancy, Keara Hall, Anne Marie Hegarty, M Tariq Khokhar, Monica Power, Karen Ryan, Andrew J Green, and Raymond L Stallings
J Med Genet 1999; 36: 511-517. doi:10.1136/jmg.36.7.511 [Abstract] [Full text] [PDF] [Request Permissions]

Analysis of germline CDKN1C (p57^KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
Wayne W K Lam, Izuho Hatada, Sachiko Ohishi, Tsunehiro Mukai, Johanna A Joyce, Trevor R P Cole, Dian Donnai, Wolf Reik, Paul N Schofield, and Eamonn R Maher
J Med Genet 1999; 36: 518-523. doi:10.1136/jmg.36.7.518 [Abstract] [Full text] [PDF] [Request Permissions]

CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance
Elizabeth M Algar, Gillian J Deeble, and Peter J Smith
J Med Genet 1999; 36: 524-531. doi:10.1136/jmg.36.7.524 [Abstract] [Full text] [PDF] [Request Permissions]

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus
Guy Van Camp, Henricus Kunst, Kris Flothmann, Wyman McGuirt, Jan Wauters, Henri Marres, Margriet Verstreken, Irina N Bespalova, Margit Burmeister, Paul H Van de Heyning, Richard J H Smith, Patrick J Willems, Cor W R J Cremers, and Marci M Lesperance
J Med Genet 1999; 36: 532-536. doi:10.1136/jmg.36.7.532 [Abstract] [Full text] [PDF] [Request Permissions]

Atypical haemochromatosis: phenotypic spectrum and $beta$ ₂-microglobulin candidate gene analysis
Ann P Walker, Daniel F Wallace, Jason Partridge, Adrian B Bomford, and James S Dooley
J Med Genet 1999; 36: 537-541. doi:10.1136/jmg.36.7.537 [Abstract] [Full text] [PDF] [Request Permissions]

Double heterozygosity for mutations in the $beta$ -myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
Pascale Richard, Richard Isnard, Lucie Carrier, Olivier Dubourg, Yves Donatien, Bénédicte Mathieu, Gisèle Bonne, Françoise Gary, Philippe Charron, Albert Hagege, Michel Komajda, Ketty Schwartz, and Bernard Hainque
J Med Genet 1999; 36: 542-545. doi:10.1136/jmg.36.7.542 [Abstract] [Full text] [PDF] [Request Permissions]

The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)
Zenjiro Matsuyama, Yuishin Izumi, Masakuni Kameyama, Hideshi Kawakami, and Shigenobu Nakamura
J Med Genet 1999; 36: 546-548. doi:10.1136/jmg.36.7.546 [Abstract] [Full text] [PDF] [Request Permissions]

Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome
Maria Tzancheva, Radka Kaneva, Philip Kumanov, Gareth Williams, and Chris Tyler-Smith
J Med Genet 1999; 36: 549-553. doi:10.1136/jmg.36.7.549 [Abstract] [Full text] [PDF] [Request Permissions]

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Anne Moncla, Perrine Malzac, Marie-Odile Livet, Marie-Antoinette Voelckel, Josette Mancini, Jean Christophe Delaroziere, Nicole Philip, and Jean-François Mattei
J Med Genet 1999; 36: 554-560. doi:10.1136/jmg.36.7.554 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
Jeanne Amiel, Valérie Cormier-Daire, Pierre Journeau, Philippe Mussat, Arnold Munnich, and Stanislas Lyonnet
J Med Genet 1999; 36: 561-564. doi:10.1136/jmg.36.7.561 [Abstract] [Full text] [Request Permissions]

Fragile X syndrome with FMR1 and FMR2 deletion
S J Moore, L Strain, G F Cole, Z Miedzybrodzka, K F Kelly, and J C S Dean
J Med Genet 1999; 36: 565-566. doi:10.1136/jmg.36.7.565 [Abstract] [Full text] [PDF] [Request Permissions]

A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis
K M Cornish, G Cross, A Green, L Willatt, and J M Bradshaw
J Med Genet 1999; 36: 567-570. doi:10.1136/jmg.36.7.567 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism
THOMAS SCHOLL, MICHAEL T PYNE, BRIAN WARD, and DMITRY PRUSS
J Med Genet 1999; 36: 571-572. doi:10.1136/jmg.36.7.571 [Extract] [Full text] [PDF] [Request Permissions]

Germline mutations in the $beta$ -catenin gene are not associated with the FAP phenotype without an APC mutation
ZUZANA DOBBIE and HANSJAKOB MÜLLER
J Med Genet 1999; 36: 573-574. doi:10.1136/jmg.36.7.573 [Extract] [Full text] [Request Permissions]

Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers
RAVI SAVARIRAYAN and AGNES BANKIER
J Med Genet 1999; 36: 574-576. doi:10.1136/jmg.36.7.574 [Extract] [Full text] [Request Permissions]

Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles
LIBOR KOZÁK, HANA FRANCOVÁ, ANNA PIJÁCKOVÁ, OLGA MARTINCOVÁ, and JAKUB KRIJT
J Med Genet 1999; 36: 576-578. doi:10.1136/jmg.36.7.576 [Extract] [Full text] [Request Permissions]

Familial congenital diaphragmatic hernia: is an imprinting mechanism involved?
ENRIQUE DANIEL AUSTIN-WARD and SILVIA CASTILLO TAUCHER
J Med Genet 1999; 36: 578-579. doi:10.1136/jmg.36.7.578 [Extract] [Full text] [Request Permissions]

Genetic counselling: do we recognise and meet the consultands' agenda?
A SHANKAR, P CHAPMAN, and J GOODSHIP
J Med Genet 1999; 36: 580-582. doi:10.1136/jmg.36.7.580 [Extract] [Full text] [Request Permissions]

Costello syndrome and rhabdomyosarcoma
MURRAY FEINGOLD
J Med Genet 1999; 36: 582-583. doi:10.1136/jmg.36.7.582 [Extract] [Full text] [Request Permissions]

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	Mitochondrial DNA analysis: polymorphisms and pathogenicity Patrick F Chinnery, Neil Howell, Richard M Andrews, and Douglass M Turnbull J Med Genet 1999; 36: 505-510. doi:10.1136/jmg.36.7.505 [Abstract] [Full text] [PDF] [Request Permissions]

	Applications of comparative genomic hybridisation in constitutional chromosome studies Claire J Breen, Lynn Barton, Aiveen Carey, Adam Dunlop, Mary Glancy, Keara Hall, Anne Marie Hegarty, M Tariq Khokhar, Monica Power, Karen Ryan, Andrew J Green, and Raymond L Stallings J Med Genet 1999; 36: 511-517. doi:10.1136/jmg.36.7.511 [Abstract] [Full text] [PDF] [Request Permissions]

	Analysis of germline CDKN1C (p57^KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation Wayne W K Lam, Izuho Hatada, Sachiko Ohishi, Tsunehiro Mukai, Johanna A Joyce, Trevor R P Cole, Dian Donnai, Wolf Reik, Paul N Schofield, and Eamonn R Maher J Med Genet 1999; 36: 518-523. doi:10.1136/jmg.36.7.518 [Abstract] [Full text] [PDF] [Request Permissions]

	CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance Elizabeth M Algar, Gillian J Deeble, and Peter J Smith J Med Genet 1999; 36: 524-531. doi:10.1136/jmg.36.7.524 [Abstract] [Full text] [PDF] [Request Permissions]

	A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus Guy Van Camp, Henricus Kunst, Kris Flothmann, Wyman McGuirt, Jan Wauters, Henri Marres, Margriet Verstreken, Irina N Bespalova, Margit Burmeister, Paul H Van de Heyning, Richard J H Smith, Patrick J Willems, Cor W R J Cremers, and Marci M Lesperance J Med Genet 1999; 36: 532-536. doi:10.1136/jmg.36.7.532 [Abstract] [Full text] [PDF] [Request Permissions]

	Atypical haemochromatosis: phenotypic spectrum and $beta$ ₂-microglobulin candidate gene analysis Ann P Walker, Daniel F Wallace, Jason Partridge, Adrian B Bomford, and James S Dooley J Med Genet 1999; 36: 537-541. doi:10.1136/jmg.36.7.537 [Abstract] [Full text] [PDF] [Request Permissions]

	Double heterozygosity for mutations in the $beta$ -myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy Pascale Richard, Richard Isnard, Lucie Carrier, Olivier Dubourg, Yves Donatien, Bénédicte Mathieu, Gisèle Bonne, Françoise Gary, Philippe Charron, Albert Hagege, Michel Komajda, Ketty Schwartz, and Bernard Hainque J Med Genet 1999; 36: 542-545. doi:10.1136/jmg.36.7.542 [Abstract] [Full text] [PDF] [Request Permissions]

	The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1) Zenjiro Matsuyama, Yuishin Izumi, Masakuni Kameyama, Hideshi Kawakami, and Shigenobu Nakamura J Med Genet 1999; 36: 546-548. doi:10.1136/jmg.36.7.546 [Abstract] [Full text] [PDF] [Request Permissions]

	Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome Maria Tzancheva, Radka Kaneva, Philip Kumanov, Gareth Williams, and Chris Tyler-Smith J Med Genet 1999; 36: 549-553. doi:10.1136/jmg.36.7.549 [Abstract] [Full text] [PDF] [Request Permissions]

	Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling Anne Moncla, Perrine Malzac, Marie-Odile Livet, Marie-Antoinette Voelckel, Josette Mancini, Jean Christophe Delaroziere, Nicole Philip, and Jean-François Mattei J Med Genet 1999; 36: 554-560. doi:10.1136/jmg.36.7.554 [Abstract] [Full text] [PDF] [Request Permissions]

	Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? Jeanne Amiel, Valérie Cormier-Daire, Pierre Journeau, Philippe Mussat, Arnold Munnich, and Stanislas Lyonnet J Med Genet 1999; 36: 561-564. doi:10.1136/jmg.36.7.561 [Abstract] [Full text] [Request Permissions]

	Fragile X syndrome with FMR1 and FMR2 deletion S J Moore, L Strain, G F Cole, Z Miedzybrodzka, K F Kelly, and J C S Dean J Med Genet 1999; 36: 565-566. doi:10.1136/jmg.36.7.565 [Abstract] [Full text] [PDF] [Request Permissions]

	A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis K M Cornish, G Cross, A Green, L Willatt, and J M Bradshaw J Med Genet 1999; 36: 567-570. doi:10.1136/jmg.36.7.567 [Abstract] [Full text] [PDF] [Request Permissions]

	Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism THOMAS SCHOLL, MICHAEL T PYNE, BRIAN WARD, and DMITRY PRUSS J Med Genet 1999; 36: 571-572. doi:10.1136/jmg.36.7.571 [Extract] [Full text] [PDF] [Request Permissions]

	Germline mutations in the $beta$ -catenin gene are not associated with the FAP phenotype without an APC mutation ZUZANA DOBBIE and HANSJAKOB MÜLLER J Med Genet 1999; 36: 573-574. doi:10.1136/jmg.36.7.573 [Extract] [Full text] [Request Permissions]

	Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers RAVI SAVARIRAYAN and AGNES BANKIER J Med Genet 1999; 36: 574-576. doi:10.1136/jmg.36.7.574 [Extract] [Full text] [Request Permissions]

	Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles LIBOR KOZÁK, HANA FRANCOVÁ, ANNA PIJÁCKOVÁ, OLGA MARTINCOVÁ, and JAKUB KRIJT J Med Genet 1999; 36: 576-578. doi:10.1136/jmg.36.7.576 [Extract] [Full text] [Request Permissions]

	Familial congenital diaphragmatic hernia: is an imprinting mechanism involved? ENRIQUE DANIEL AUSTIN-WARD and SILVIA CASTILLO TAUCHER J Med Genet 1999; 36: 578-579. doi:10.1136/jmg.36.7.578 [Extract] [Full text] [Request Permissions]

	Genetic counselling: do we recognise and meet the consultands' agenda? A SHANKAR, P CHAPMAN, and J GOODSHIP J Med Genet 1999; 36: 580-582. doi:10.1136/jmg.36.7.580 [Extract] [Full text] [Request Permissions]

	Costello syndrome and rhabdomyosarcoma MURRAY FEINGOLD J Med Genet 1999; 36: 582-583. doi:10.1136/jmg.36.7.582 [Extract] [Full text] [Request Permissions]