J Med Genet -- Table of Contents (25 [3])

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March 1988 (Volume 25, Number 3). [Index by author]

		Editorials Correspondence Research Article

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Editorials

King's Fund Forum Screening for Fetal and Genetic Abnormality The need for a British Association for Genetic Medicine
Rodney Harris
J Med Genet 1988; 25: 145-146. doi:10.1136/jmg.25.3.145 [PDF] [Request Permissions]

Correspondence

Duchenne muscular dystrophy in one of monozygotic twin girls
P H Jongbloet
J Med Genet 1988; 25: 214-215. doi:10.1136/jmg.25.3.214 [PDF] [Request Permissions]

Correspondence
John Burn
J Med Genet 1988; 25: 215-216. doi:10.1136/jmg.25.3.215 [PDF] [Request Permissions]

Research Article

A reappraisal of the CHARGE association.
C A Oley, M Baraitser, and D B Grant
J Med Genet 1988; 25: 147-156. doi:10.1136/jmg.25.3.147 [Abstract] [PDF] [Request Permissions]

Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia.
G N Wilson and W J Oliver
J Med Genet 1988; 25: 157-163. doi:10.1136/jmg.25.3.157 [Abstract] [PDF] [Request Permissions]

Intellectual development in Apert's syndrome: a long term follow up of 29 patients.
M A Patton, J Goodship, R Hayward, and R Lansdown
J Med Genet 1988; 25: 164-167. doi:10.1136/jmg.25.3.164 [Abstract] [PDF] [Request Permissions]

Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy.
J S Fitzsimmons, A R Watson, D Mellor, and P R Guilbert
J Med Genet 1988; 25: 168-172. doi:10.1136/jmg.25.3.168 [Abstract] [PDF] [Request Permissions]

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
P Maraschio, O Zuffardi, T Dalla Fior, and L Tiepolo
J Med Genet 1988; 25: 173-180. doi:10.1136/jmg.25.3.173 [Abstract] [PDF] [Request Permissions]

Family size limitation: a method for demonstrating recessive inheritance.
J F Brookfield, R J Pollitt, and I D Young
J Med Genet 1988; 25: 181-185. doi:10.1136/jmg.25.3.181 [Abstract] [PDF] [Request Permissions]

The frequency of consanguineous marriage among British Pakistanis.
A Darr and B Modell
J Med Genet 1988; 25: 186-190. doi:10.1136/jmg.25.3.186 [Abstract] [PDF] [Request Permissions]

Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).
O W Quarrell, S Youngman, M Sarfarazi, and P S Harper
J Med Genet 1988; 25: 191-194. doi:10.1136/jmg.25.3.191 [Abstract] [PDF] [Request Permissions]

Clinical, haematological, and genetic studies of type 2 normal Hb A2 beta thalassaemia.
A Metaxotou-Mavromati, C Kattamis, L Matathia, M Tzetis, and E Kanavakis
J Med Genet 1988; 25: 195-199. doi:10.1136/jmg.25.3.195 [Abstract] [PDF] [Request Permissions]

Sclerosteosis.
P Beighton
J Med Genet 1988; 25: 200-203. doi:10.1136/jmg.25.3.200 [PDF] [Request Permissions]

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
H Santos, J Mateus, and M J Leal
J Med Genet 1988; 25: 204-205. doi:10.1136/jmg.25.3.204 [Abstract] [PDF] [Request Permissions]

Unusual dual genital duct remnants in true hermaphroditism.
C Williams and I A Hughes
J Med Genet 1988; 25: 206-208. doi:10.1136/jmg.25.3.206 [Abstract] [PDF] [Request Permissions]

De novo 10q23 interstitial deletion.
M A Mori, F Gomez-Sabrido, A Diaz de Bustamante, I Pinel, and M L Martinez-Frias
J Med Genet 1988; 25: 209-210. doi:10.1136/jmg.25.3.209 [PDF] [Request Permissions]

Interstitial deletion (6) (q11----q15) in an infant with congenital abnormalities.
H R Slater, A Robb, L A Forsyth, D A Hamilton, M C Clark, and C A Galloway
J Med Genet 1988; 25: 210-211. doi:10.1136/jmg.25.3.210 [PDF] [Request Permissions]

Terminal deletion of chromosome 1(q43) in a female infant.
G P Garani, L Tamisari, S Volpato, and V Vigi
J Med Genet 1988; 25: 211-212. doi:10.1136/jmg.25.3.211 [PDF] [Request Permissions]

Anomalous X chromosome inactivation: the link between female zygotes, monozygotic twinning, and neural tube defects?
J Med Genet 1988; 25: 213-216. doi:10.1136/jmg.25.3.213 [PDF] [Request Permissions]

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	King's Fund Forum Screening for Fetal and Genetic Abnormality The need for a British Association for Genetic Medicine Rodney Harris J Med Genet 1988; 25: 145-146. doi:10.1136/jmg.25.3.145 [PDF] [Request Permissions]

	Duchenne muscular dystrophy in one of monozygotic twin girls P H Jongbloet J Med Genet 1988; 25: 214-215. doi:10.1136/jmg.25.3.214 [PDF] [Request Permissions]

	Correspondence John Burn J Med Genet 1988; 25: 215-216. doi:10.1136/jmg.25.3.215 [PDF] [Request Permissions]

	A reappraisal of the CHARGE association. C A Oley, M Baraitser, and D B Grant J Med Genet 1988; 25: 147-156. doi:10.1136/jmg.25.3.147 [Abstract] [PDF] [Request Permissions]

	Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. G N Wilson and W J Oliver J Med Genet 1988; 25: 157-163. doi:10.1136/jmg.25.3.157 [Abstract] [PDF] [Request Permissions]

	Intellectual development in Apert's syndrome: a long term follow up of 29 patients. M A Patton, J Goodship, R Hayward, and R Lansdown J Med Genet 1988; 25: 164-167. doi:10.1136/jmg.25.3.164 [Abstract] [PDF] [Request Permissions]

	Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy. J S Fitzsimmons, A R Watson, D Mellor, and P R Guilbert J Med Genet 1988; 25: 168-172. doi:10.1136/jmg.25.3.168 [Abstract] [PDF] [Request Permissions]

	Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. P Maraschio, O Zuffardi, T Dalla Fior, and L Tiepolo J Med Genet 1988; 25: 173-180. doi:10.1136/jmg.25.3.173 [Abstract] [PDF] [Request Permissions]

	Family size limitation: a method for demonstrating recessive inheritance. J F Brookfield, R J Pollitt, and I D Young J Med Genet 1988; 25: 181-185. doi:10.1136/jmg.25.3.181 [Abstract] [PDF] [Request Permissions]

	The frequency of consanguineous marriage among British Pakistanis. A Darr and B Modell J Med Genet 1988; 25: 186-190. doi:10.1136/jmg.25.3.186 [Abstract] [PDF] [Request Permissions]

	Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). O W Quarrell, S Youngman, M Sarfarazi, and P S Harper J Med Genet 1988; 25: 191-194. doi:10.1136/jmg.25.3.191 [Abstract] [PDF] [Request Permissions]

	Clinical, haematological, and genetic studies of type 2 normal Hb A2 beta thalassaemia. A Metaxotou-Mavromati, C Kattamis, L Matathia, M Tzetis, and E Kanavakis J Med Genet 1988; 25: 195-199. doi:10.1136/jmg.25.3.195 [Abstract] [PDF] [Request Permissions]

	Sclerosteosis. P Beighton J Med Genet 1988; 25: 200-203. doi:10.1136/jmg.25.3.200 [PDF] [Request Permissions]

	Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. H Santos, J Mateus, and M J Leal J Med Genet 1988; 25: 204-205. doi:10.1136/jmg.25.3.204 [Abstract] [PDF] [Request Permissions]

	Unusual dual genital duct remnants in true hermaphroditism. C Williams and I A Hughes J Med Genet 1988; 25: 206-208. doi:10.1136/jmg.25.3.206 [Abstract] [PDF] [Request Permissions]

	De novo 10q23 interstitial deletion. M A Mori, F Gomez-Sabrido, A Diaz de Bustamante, I Pinel, and M L Martinez-Frias J Med Genet 1988; 25: 209-210. doi:10.1136/jmg.25.3.209 [PDF] [Request Permissions]

	Interstitial deletion (6) (q11----q15) in an infant with congenital abnormalities. H R Slater, A Robb, L A Forsyth, D A Hamilton, M C Clark, and C A Galloway J Med Genet 1988; 25: 210-211. doi:10.1136/jmg.25.3.210 [PDF] [Request Permissions]

	Terminal deletion of chromosome 1(q43) in a female infant. G P Garani, L Tamisari, S Volpato, and V Vigi J Med Genet 1988; 25: 211-212. doi:10.1136/jmg.25.3.211 [PDF] [Request Permissions]

	Anomalous X chromosome inactivation: the link between female zygotes, monozygotic twinning, and neural tube defects? J Med Genet 1988; 25: 213-216. doi:10.1136/jmg.25.3.213 [PDF] [Request Permissions]