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October 1995 (Volume 32, Number 10). [Index by author]

		Abstracts Book Reviews Brief Papers Letters to the Editor Original Articles Research Article Review Article Short Report

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Abstracts

Medical genetics: advances in brief
Angela Barnicoat
J Med Genet 1995; 32: 835. doi:10.1136/jmg.32.10.835 [PDF] [Request Permissions]

Medical genetics: advances in brief: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
Frances Flinter
J Med Genet 1995; 32: 835. doi:10.1136/jmg.32.10.835-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Specification of the neurobehavioural phenotype in males with fragile X syndrome
Jill Clayton-Smith
J Med Genet 1995; 32: 835. doi:10.1136/jmg.32.10.835-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability
John C K Barber
J Med Genet 1995; 32: 835. doi:10.1136/jmg.32.10.835-c [PDF] [Request Permissions]

Book Reviews

Clinical and Genetic Aspects of the X Linked Hydrocephalus/MASA Spectrum
Angus Clarke
J Med Genet 1995; 32: 839. doi:10.1136/jmg.32.10.839 [PDF] [Request Permissions]

From Genotype to Phenotype
Andrew J Walley
J Med Genet 1995; 32: 839. doi:10.1136/jmg.32.10.839-a [PDF] [Request Permissions]

Haldane's Daedalus Revisited
Alan Emery
J Med Genet 1995; 32: 839. doi:10.1136/jmg.32.10.839-b [PDF] [Request Permissions]

Brief Papers

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation
Ajay Gupta, Christine M Hall, Yvonne F Ransley, and Victoria A Murday
J Med Genet 1995; 32: 809-812. doi:10.1136/jmg.32.10.809 [Abstract] [PDF] [Request Permissions]

An unusual pedigree with microcornea-cataract syndrome
E Stefaniak, J Zaremba, I Cieslinska, and E Kropinska
J Med Genet 1995; 32: 813-815. doi:10.1136/jmg.32.10.813 [Abstract] [PDF] [Request Permissions]

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome
Bruno Dallapiccola and Rita Mingarelli
J Med Genet 1995; 32: 816-818. doi:10.1136/jmg.32.10.816 [Abstract] [PDF] [Request Permissions]

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features
A M Estop, P A Mowery-Rushton, K M Cieply, S J Kochmar, C R Sherer, M Clemens, U Surti, and E McPherson
J Med Genet 1995; 32: 819-822. doi:10.1136/jmg.32.10.819 [Abstract] [PDF] [Request Permissions]

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)
J M McGaughran, H B Ward, and D G R Evans
J Med Genet 1995; 32: 823-824. doi:10.1136/jmg.32.10.823 [Abstract] [PDF] [Request Permissions]

Duplication 2 (q11.2-q21): a previously unreported abnormality
L B Cooke, H Richards, P W Lunt, L Burvill-Holmes, R T Howell, and A McDermott
J Med Genet 1995; 32: 825-826. doi:10.1136/jmg.32.10.825 [Abstract] [PDF] [Request Permissions]

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease
Giovanni Stevanin, Eloy Cassa, Géraldine Cancel, Nacer Abbas, Alexandra Dürr, Edymar Jardim, Yves Agid, Patricia S Sousa, and Alexis Brice
J Med Genet 1995; 32: 827-830. doi:10.1136/jmg.32.10.827 [Abstract] [PDF] [Request Permissions]

Letters to the Editor

Reply
Shirley Dalby
J Med Genet 1995; 32: 838. doi:10.1136/jmg.32.10.838-a [PDF] [Request Permissions]

Original Articles

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation
Bert B A de Vries, Hazel Robinson, Irene Stolte-Dijkstra, Cecil V Tjon Pian Gi, Piet F Dijkstra, Jaap van Doorn, Dicky J J Halley, Ben A Oostra, Gillian Turner, and Martinus F Niermeijer
J Med Genet 1995; 32: 764-769. doi:10.1136/jmg.32.10.764 [Abstract] [PDF] [Request Permissions]

Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B
J R Gilbert, M C Speer, J Stajich, R Clancy, K Lewis, H Qiu, L Yamaoka, A Kumar, J Vance, C Stewart, M Rozear, A D Roses, and M A Pericak-Vance
J Med Genet 1995; 32: 770-773. doi:10.1136/jmg.32.10.770 [Abstract] [PDF] [Request Permissions]

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
H S Harrar, S Jeffery, and M A Patton
J Med Genet 1995; 32: 774-777. doi:10.1136/jmg.32.10.774 [Abstract] [PDF] [Request Permissions]

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
Dominique Bonneau, Isabelle Winter-Fuseau, Marie-Noëlle Loiseau, Patrizia Amati, Michel Berthier, Denis Oriot, and Carole Beaumont
J Med Genet 1995; 32: 778-779. doi:10.1136/jmg.32.10.778 [Abstract] [PDF] [Request Permissions]

Current issues of personnel and laboratory practices in genetic testing
Hon Fong Louie Mark, Thaddeus Kelly, Michael S Watson, Gerald Hoeltge, Wayne A Miller, and Laurent Beauregard
J Med Genet 1995; 32: 780-786. doi:10.1136/jmg.32.10.780 [Abstract] [PDF] [Request Permissions]

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22
M B Coulter-Mackie, J Rip, M D Ludman, J Beis, and D E C Cole
J Med Genet 1995; 32: 787-791. doi:10.1136/jmg.32.10.787 [Abstract] [PDF] [Request Permissions]

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation
J J M Engelen, C E M de Die-Smulders, J M J Sijstermans, L E C Meers, J C M Albrechts, and A J H Hamers
J Med Genet 1995; 32: 792-795. doi:10.1136/jmg.32.10.792 [Abstract] [PDF] [Request Permissions]

Public attitudes towards the selection of desirable characteristics in children
Theresa Marteau, Susan Michie, Harriet Drake, and Martin Bobrow
J Med Genet 1995; 32: 796-798. doi:10.1136/jmg.32.10.796 [Abstract] [PDF] [Request Permissions]

Adolescents' opinions about genetic risk information, prenatal diagnosis, and pregnancy termination
Marleen Decruyenaere, Gerry Evers-Kiebooms, Myriam Welkenhuysen, Jacqueline Bande-Knops, Veerle Van Gerven, and Herman Van den Berghe
J Med Genet 1995; 32: 799-804. doi:10.1136/jmg.32.10.799 [Abstract] [PDF] [Request Permissions]

Research Article

Comment: Decruyenaere et al., "Adolescents' opinions about genetic risk information, prenatal diagnosis, and termination of pregnancy.
Josephine M Green
J Med Genet 1995; 32: 805. doi:10.1136/jmg.32.10.805 [PDF] [Request Permissions]

Treacher Collins syndrome.
M J Dixon
J Med Genet 1995; 32: 806-808. doi:10.1136/jmg.32.10.806 [PDF] [Request Permissions]

Reply to the commentary on Decruyenaere et al "adolescents' opinions about genetic risk information, prenatal diagnosis, and pregnancy termination".
G Evers-Kiebooms, M Decruyenaere, and M Welkenhuysen
J Med Genet 1995; 32: 836. doi:10.1136/jmg.32.10.836 [PDF] [Request Permissions]

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
M A Kroos, M Van der Kraan, O P Van Diggelen, W J Kleijer, A J Reuser, M J Van den Boogaard, M G Ausems, H K Ploos van Amstel, L Poenaru, and M Nicolino
J Med Genet 1995; 32: 836-837. doi:10.1136/jmg.32.10.836-a [PDF] [Request Permissions]

Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
M Ireland, C English, I Cross, S Lindsay, and T Strachan
J Med Genet 1995; 32: 837-838. doi:10.1136/jmg.32.10.837 [PDF] [Request Permissions]

Response to GIG's response to the UK Clinical Genetics Society report "the genetic testing of children".
S Michie and T M Marteau
J Med Genet 1995; 32: 838. doi:10.1136/jmg.32.10.838 [PDF] [Request Permissions]

Review Article

FMR1 triplet arrays: paying the price for perfection
Mark C Hirst
J Med Genet 1995; 32: 761-763. doi:10.1136/jmg.32.10.761 [Abstract] [PDF] [Request Permissions]

Short Report

Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)
Tsutomu Ogata, Atsuko Yoshizawa, Koji Muroya, Nobutake Matsuo, Yoshimitsu Fukushima, Gudrun Rappold, and Susumu Yokoya
J Med Genet 1995; 32: 831-834. doi:10.1136/jmg.32.10.831 [Abstract] [PDF] [Request Permissions]

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	Medical genetics: advances in brief Angela Barnicoat J Med Genet 1995; 32: 835. doi:10.1136/jmg.32.10.835 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions Frances Flinter J Med Genet 1995; 32: 835. doi:10.1136/jmg.32.10.835-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Specification of the neurobehavioural phenotype in males with fragile X syndrome Jill Clayton-Smith J Med Genet 1995; 32: 835. doi:10.1136/jmg.32.10.835-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability John C K Barber J Med Genet 1995; 32: 835. doi:10.1136/jmg.32.10.835-c [PDF] [Request Permissions]

	Clinical and Genetic Aspects of the X Linked Hydrocephalus/MASA Spectrum Angus Clarke J Med Genet 1995; 32: 839. doi:10.1136/jmg.32.10.839 [PDF] [Request Permissions]

	From Genotype to Phenotype Andrew J Walley J Med Genet 1995; 32: 839. doi:10.1136/jmg.32.10.839-a [PDF] [Request Permissions]

	*Haldane's Daedalus* Revisited** Alan Emery J Med Genet 1995; 32: 839. doi:10.1136/jmg.32.10.839-b [PDF] [Request Permissions]

	A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation Ajay Gupta, Christine M Hall, Yvonne F Ransley, and Victoria A Murday J Med Genet 1995; 32: 809-812. doi:10.1136/jmg.32.10.809 [Abstract] [PDF] [Request Permissions]

	An unusual pedigree with microcornea-cataract syndrome E Stefaniak, J Zaremba, I Cieslinska, and E Kropinska J Med Genet 1995; 32: 813-815. doi:10.1136/jmg.32.10.813 [Abstract] [PDF] [Request Permissions]

	Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome Bruno Dallapiccola and Rita Mingarelli J Med Genet 1995; 32: 816-818. doi:10.1136/jmg.32.10.816 [Abstract] [PDF] [Request Permissions]

	Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features A M Estop, P A Mowery-Rushton, K M Cieply, S J Kochmar, C R Sherer, M Clemens, U Surti, and E McPherson J Med Genet 1995; 32: 819-822. doi:10.1136/jmg.32.10.819 [Abstract] [PDF] [Request Permissions]

	WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2) J M McGaughran, H B Ward, and D G R Evans J Med Genet 1995; 32: 823-824. doi:10.1136/jmg.32.10.823 [Abstract] [PDF] [Request Permissions]

	Duplication 2 (q11.2-q21): a previously unreported abnormality L B Cooke, H Richards, P W Lunt, L Burvill-Holmes, R T Howell, and A McDermott J Med Genet 1995; 32: 825-826. doi:10.1136/jmg.32.10.825 [Abstract] [PDF] [Request Permissions]

	Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease Giovanni Stevanin, Eloy Cassa, Géraldine Cancel, Nacer Abbas, Alexandra Dürr, Edymar Jardim, Yves Agid, Patricia S Sousa, and Alexis Brice J Med Genet 1995; 32: 827-830. doi:10.1136/jmg.32.10.827 [Abstract] [PDF] [Request Permissions]

	Reply Shirley Dalby J Med Genet 1995; 32: 838. doi:10.1136/jmg.32.10.838-a [PDF] [Request Permissions]

	General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation Bert B A de Vries, Hazel Robinson, Irene Stolte-Dijkstra, Cecil V Tjon Pian Gi, Piet F Dijkstra, Jaap van Doorn, Dicky J J Halley, Ben A Oostra, Gillian Turner, and Martinus F Niermeijer J Med Genet 1995; 32: 764-769. doi:10.1136/jmg.32.10.764 [Abstract] [PDF] [Request Permissions]

	Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B J R Gilbert, M C Speer, J Stajich, R Clancy, K Lewis, H Qiu, L Yamaoka, A Kumar, J Vance, C Stewart, M Rozear, A D Roses, and M A Pericak-Vance J Med Genet 1995; 32: 770-773. doi:10.1136/jmg.32.10.770 [Abstract] [PDF] [Request Permissions]

	Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24 H S Harrar, S Jeffery, and M A Patton J Med Genet 1995; 32: 774-777. doi:10.1136/jmg.32.10.774 [Abstract] [PDF] [Request Permissions]

	Bilateral cataract and high serum ferritin: a new dominant genetic disorder? Dominique Bonneau, Isabelle Winter-Fuseau, Marie-Noëlle Loiseau, Patrizia Amati, Michel Berthier, Denis Oriot, and Carole Beaumont J Med Genet 1995; 32: 778-779. doi:10.1136/jmg.32.10.778 [Abstract] [PDF] [Request Permissions]

	Current issues of personnel and laboratory practices in genetic testing Hon Fong Louie Mark, Thaddeus Kelly, Michael S Watson, Gerald Hoeltge, Wayne A Miller, and Laurent Beauregard J Med Genet 1995; 32: 780-786. doi:10.1136/jmg.32.10.780 [Abstract] [PDF] [Request Permissions]

	Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22 M B Coulter-Mackie, J Rip, M D Ludman, J Beis, and D E C Cole J Med Genet 1995; 32: 787-791. doi:10.1136/jmg.32.10.787 [Abstract] [PDF] [Request Permissions]

	Familial partial trisomy 8p without dysmorphic features and only mild mental retardation J J M Engelen, C E M de Die-Smulders, J M J Sijstermans, L E C Meers, J C M Albrechts, and A J H Hamers J Med Genet 1995; 32: 792-795. doi:10.1136/jmg.32.10.792 [Abstract] [PDF] [Request Permissions]

	Public attitudes towards the selection of desirable characteristics in children Theresa Marteau, Susan Michie, Harriet Drake, and Martin Bobrow J Med Genet 1995; 32: 796-798. doi:10.1136/jmg.32.10.796 [Abstract] [PDF] [Request Permissions]

	Adolescents' opinions about genetic risk information, prenatal diagnosis, and pregnancy termination Marleen Decruyenaere, Gerry Evers-Kiebooms, Myriam Welkenhuysen, Jacqueline Bande-Knops, Veerle Van Gerven, and Herman Van den Berghe J Med Genet 1995; 32: 799-804. doi:10.1136/jmg.32.10.799 [Abstract] [PDF] [Request Permissions]

	Comment: Decruyenaere et al., "Adolescents' opinions about genetic risk information, prenatal diagnosis, and termination of pregnancy. Josephine M Green J Med Genet 1995; 32: 805. doi:10.1136/jmg.32.10.805 [PDF] [Request Permissions]

	Treacher Collins syndrome. M J Dixon J Med Genet 1995; 32: 806-808. doi:10.1136/jmg.32.10.806 [PDF] [Request Permissions]

	Reply to the commentary on Decruyenaere et al "adolescents' opinions about genetic risk information, prenatal diagnosis, and pregnancy termination". G Evers-Kiebooms, M Decruyenaere, and M Welkenhuysen J Med Genet 1995; 32: 836. doi:10.1136/jmg.32.10.836 [PDF] [Request Permissions]

	Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. M A Kroos, M Van der Kraan, O P Van Diggelen, W J Kleijer, A J Reuser, M J Van den Boogaard, M G Ausems, H K Ploos van Amstel, L Poenaru, and M Nicolino J Med Genet 1995; 32: 836-837. doi:10.1136/jmg.32.10.836-a [PDF] [Request Permissions]

	Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype. M Ireland, C English, I Cross, S Lindsay, and T Strachan J Med Genet 1995; 32: 837-838. doi:10.1136/jmg.32.10.837 [PDF] [Request Permissions]

	Response to GIG's response to the UK Clinical Genetics Society report "the genetic testing of children". S Michie and T M Marteau J Med Genet 1995; 32: 838. doi:10.1136/jmg.32.10.838 [PDF] [Request Permissions]

	FMR1 triplet arrays: paying the price for perfection Mark C Hirst J Med Genet 1995; 32: 761-763. doi:10.1136/jmg.32.10.761 [Abstract] [PDF] [Request Permissions]