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February 1998 (Volume 35, Number 2). [Index by author]

		Abstracts Book Review Research Article

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Abstracts

Medical genetics: advances in brief: Phenotypic diversity in siblings with partial androgen insensitivity syndrome
Sarah Slaney
J Med Genet 1998; 35: 173. doi:10.1136/jmg.35.2.173 [PDF] [Request Permissions]

Medical genetics: advances in brief: Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation
Frances Flinter
J Med Genet 1998; 35: 173. doi:10.1136/jmg.35.2.173-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Occurrence of myeloproliferative disorder in patients with Noonan syndrome
L Wilson
J Med Genet 1998; 35: 173. doi:10.1136/jmg.35.2.173-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Factor V Leiden mutation: an unrecognised cause of hemiplegic cerebral palsy, neonatal stroke and placental thrombosis
Evan Reid
J Med Genet 1998; 35: 173. doi:10.1136/jmg.35.2.173-c [PDF] [Request Permissions]

Book Review

A Dictionary of Genetics
Martin Bobrow
J Med Genet 1998; 35: 176. doi:10.1136/jmg.35.2.176 [PDF] [Request Permissions]

Research Article

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
O Heinzlef, C Paternotte, F Mahieux, J F Prud'homme, J Dien, M Madigand, J Pouget, J Weissenbach, E Roullet, and J Hazan
J Med Genet 1998; 35: 89-93. doi:10.1136/jmg.35.2.89 [Abstract] [PDF] [Request Permissions]

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
Y J Crow, S M Zuberi, R McWilliam, J L Tolmie, A Hollman, K Pohl, and J B Stephenson
J Med Genet 1998; 35: 94-98. doi:10.1136/jmg.35.2.94 [Abstract] [PDF] [Request Permissions]

Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.
M A Pujana, V Volpini, M Gratacós, J Corral, I Banchs, A Sánchez, D Genís, C Cervera, and X Estivill
J Med Genet 1998; 35: 99-102. doi:10.1136/jmg.35.2.99 [Abstract] [PDF] [Request Permissions]

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.
D Wöhrle, U Salat, D Gläser, J Mücke, M Meisel-Stosiek, D Schindler, W Vogel, and P Steinbach
J Med Genet 1998; 35: 103-111. doi:10.1136/jmg.35.2.103 [Abstract] [PDF] [Request Permissions]

Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
B M Ferguson, N S Thomas, F Munoz, D Morgan, A Clarke, and J Zonana
J Med Genet 1998; 35: 112-115. doi:10.1136/jmg.35.2.112 [Abstract] [PDF] [Request Permissions]

Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes.
J Chang-Claude, J Dong, S Schmidt, M Shayeghi, D Komitowski, H Becher, M R Stratton, and B Royer-Pokora
J Med Genet 1998; 35: 116-121. doi:10.1136/jmg.35.2.116 [Abstract] [PDF] [Request Permissions]

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
A Gilfillan, J P Warner, J M Kirk, T Marshall, A Greening, L P Ho, T Hargreave, B Stack, D McIntyre, R Davidson, J C Dean, W Middleton, and D J Brock
J Med Genet 1998; 35: 122-125. doi:10.1136/jmg.35.2.122 [Abstract] [PDF] [Request Permissions]

Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction.
T Tóth, I Findlay, C Papp, E Tóth-Pál, T Marton, B Nagy, P Quirke, and Z Papp
J Med Genet 1998; 35: 126-129. doi:10.1136/jmg.35.2.126 [Abstract] [PDF] [Request Permissions]

The mechanisms involved in formation of deletions and duplications of 15q11-q13.
W P Robinson, F Dutly, R D Nicholls, F Bernasconi, M Peñaherrera, R C Michaelis, D Abeliovich, and A A Schinzel
J Med Genet 1998; 35: 130-136. doi:10.1136/jmg.35.2.130 [Abstract] [PDF] [Request Permissions]

Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients.
C Verlingue, S Vuillaumier, B Mercier, M Le Gac, J Elion, C Férec, and E Denamur
J Med Genet 1998; 35: 137-140. doi:10.1136/jmg.35.2.137 [Abstract] [PDF] [Request Permissions]

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
M Bayés, B Goldaracena, A Martínez-Mir, M I Iragui-Madoz, T Solans, P Chivelet, E Bussaglia, M A Ramos-Arroyo, M Baiget, L Vilageliu, S Balcells, R Gonzàlez-Duarte, and D Grinberg
J Med Genet 1998; 35: 141-145. doi:10.1136/jmg.35.2.141 [Abstract] [PDF] [Request Permissions]

Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.
F Sloan-Béna, C Philippe, B LeHeup, F Wuilque, E R Levy, M Chéry, P Jonveaux, and A P Monaco
J Med Genet 1998; 35: 146-150. doi:10.1136/jmg.35.2.146 [Abstract] [PDF] [Request Permissions]

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
N J Lench, A F Markham, R F Mueller, D P Kelsell, R J Smith, P J Willems, I Schatteman, H Capon, P J Van De Heyning, and G Van Camp
J Med Genet 1998; 35: 151-152. doi:10.1136/jmg.35.2.151 [Abstract] [PDF] [Request Permissions]

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
P Lapunzina, I Badia, C Galoppo, E De Matteo, P Silberman, A Tello, J Grichener, and R Hughes-Benzie
J Med Genet 1998; 35: 153-156. doi:10.1136/jmg.35.2.153 [Abstract] [PDF] [Request Permissions]

Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?
M Silengo, L Silvestro, G Capizzi, M Lerone, M Seri, L Rosaia, and G Romeo
J Med Genet 1998; 35: 157-158. doi:10.1136/jmg.35.2.157 [Abstract] [PDF] [Request Permissions]

MRI findings in a patient with partial monosomy 10p.
F Sunada, F C Rash, and D A Tam
J Med Genet 1998; 35: 159-161. doi:10.1136/jmg.35.2.159 [Abstract] [PDF] [Request Permissions]

Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
C M Brewer, W W Lam, C Hayward, E Grace, E R Maher, and D R FitzPatrick
J Med Genet 1998; 35: 162-164. doi:10.1136/jmg.35.2.162 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis by FISH of a 22q11 deletion in two families.
M F Portnoï, N Joyé, M Gonzales, S Demczuk, L Fermont, G Gaillard, G Bercau, G Morlier, and J L Taillemite
J Med Genet 1998; 35: 165-168. doi:10.1136/jmg.35.2.165 [Abstract] [PDF] [Request Permissions]

A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.
K S Reddy and M B Larsen
J Med Genet 1998; 35: 169-172. doi:10.1136/jmg.35.2.169 [Abstract] [PDF] [Request Permissions]

Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis.
C Hayward, D J Brock, R A Minns, and R J Swingler
J Med Genet 1998; 35: 174. doi:10.1136/jmg.35.2.174 [PDF] [Request Permissions]

RP11 is the second most common locus for dominant retinitis pigmentosa.
E Vithana, M Al-Maghtheh, S S Bhattacharya, and C F Inglehearn
J Med Genet 1998; 35: 174-175. doi:10.1136/jmg.35.2.174-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Phenotypic diversity in siblings with partial androgen insensitivity syndrome Sarah Slaney J Med Genet 1998; 35: 173. doi:10.1136/jmg.35.2.173 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation Frances Flinter J Med Genet 1998; 35: 173. doi:10.1136/jmg.35.2.173-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Occurrence of myeloproliferative disorder in patients with Noonan syndrome L Wilson J Med Genet 1998; 35: 173. doi:10.1136/jmg.35.2.173-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Factor V Leiden mutation: an unrecognised cause of hemiplegic cerebral palsy, neonatal stroke and placental thrombosis Evan Reid J Med Genet 1998; 35: 173. doi:10.1136/jmg.35.2.173-c [PDF] [Request Permissions]

	A Dictionary of Genetics Martin Bobrow J Med Genet 1998; 35: 176. doi:10.1136/jmg.35.2.176 [PDF] [Request Permissions]

	Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. O Heinzlef, C Paternotte, F Mahieux, J F Prud'homme, J Dien, M Madigand, J Pouget, J Weissenbach, E Roullet, and J Hazan J Med Genet 1998; 35: 89-93. doi:10.1136/jmg.35.2.89 [Abstract] [PDF] [Request Permissions]

	"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. Y J Crow, S M Zuberi, R McWilliam, J L Tolmie, A Hollman, K Pohl, and J B Stephenson J Med Genet 1998; 35: 94-98. doi:10.1136/jmg.35.2.94 [Abstract] [PDF] [Request Permissions]

	Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. M A Pujana, V Volpini, M Gratacós, J Corral, I Banchs, A Sánchez, D Genís, C Cervera, and X Estivill J Med Genet 1998; 35: 99-102. doi:10.1136/jmg.35.2.99 [Abstract] [PDF] [Request Permissions]

	Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. D Wöhrle, U Salat, D Gläser, J Mücke, M Meisel-Stosiek, D Schindler, W Vogel, and P Steinbach J Med Genet 1998; 35: 103-111. doi:10.1136/jmg.35.2.103 [Abstract] [PDF] [Request Permissions]

	Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. B M Ferguson, N S Thomas, F Munoz, D Morgan, A Clarke, and J Zonana J Med Genet 1998; 35: 112-115. doi:10.1136/jmg.35.2.112 [Abstract] [PDF] [Request Permissions]

	Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes. J Chang-Claude, J Dong, S Schmidt, M Shayeghi, D Komitowski, H Becher, M R Stratton, and B Royer-Pokora J Med Genet 1998; 35: 116-121. doi:10.1136/jmg.35.2.116 [Abstract] [PDF] [Request Permissions]

	P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. A Gilfillan, J P Warner, J M Kirk, T Marshall, A Greening, L P Ho, T Hargreave, B Stack, D McIntyre, R Davidson, J C Dean, W Middleton, and D J Brock J Med Genet 1998; 35: 122-125. doi:10.1136/jmg.35.2.122 [Abstract] [PDF] [Request Permissions]

	Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. T Tóth, I Findlay, C Papp, E Tóth-Pál, T Marton, B Nagy, P Quirke, and Z Papp J Med Genet 1998; 35: 126-129. doi:10.1136/jmg.35.2.126 [Abstract] [PDF] [Request Permissions]

	The mechanisms involved in formation of deletions and duplications of 15q11-q13. W P Robinson, F Dutly, R D Nicholls, F Bernasconi, M Peñaherrera, R C Michaelis, D Abeliovich, and A A Schinzel J Med Genet 1998; 35: 130-136. doi:10.1136/jmg.35.2.130 [Abstract] [PDF] [Request Permissions]

	Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients. C Verlingue, S Vuillaumier, B Mercier, M Le Gac, J Elion, C Férec, and E Denamur J Med Genet 1998; 35: 137-140. doi:10.1136/jmg.35.2.137 [Abstract] [PDF] [Request Permissions]

	A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. M Bayés, B Goldaracena, A Martínez-Mir, M I Iragui-Madoz, T Solans, P Chivelet, E Bussaglia, M A Ramos-Arroyo, M Baiget, L Vilageliu, S Balcells, R Gonzàlez-Duarte, and D Grinberg J Med Genet 1998; 35: 141-145. doi:10.1136/jmg.35.2.141 [Abstract] [PDF] [Request Permissions]

	Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH. F Sloan-Béna, C Philippe, B LeHeup, F Wuilque, E R Levy, M Chéry, P Jonveaux, and A P Monaco J Med Genet 1998; 35: 146-150. doi:10.1136/jmg.35.2.146 [Abstract] [PDF] [Request Permissions]

	A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). N J Lench, A F Markham, R F Mueller, D P Kelsell, R J Smith, P J Willems, I Schatteman, H Capon, P J Van De Heyning, and G Van Camp J Med Genet 1998; 35: 151-152. doi:10.1136/jmg.35.2.151 [Abstract] [PDF] [Request Permissions]

	A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma. P Lapunzina, I Badia, C Galoppo, E De Matteo, P Silberman, A Tello, J Grichener, and R Hughes-Benzie J Med Genet 1998; 35: 153-156. doi:10.1136/jmg.35.2.153 [Abstract] [PDF] [Request Permissions]

	Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome? M Silengo, L Silvestro, G Capizzi, M Lerone, M Seri, L Rosaia, and G Romeo J Med Genet 1998; 35: 157-158. doi:10.1136/jmg.35.2.157 [Abstract] [PDF] [Request Permissions]

	MRI findings in a patient with partial monosomy 10p. F Sunada, F C Rash, and D A Tam J Med Genet 1998; 35: 159-161. doi:10.1136/jmg.35.2.159 [Abstract] [PDF] [Request Permissions]

	Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion. C M Brewer, W W Lam, C Hayward, E Grace, E R Maher, and D R FitzPatrick J Med Genet 1998; 35: 162-164. doi:10.1136/jmg.35.2.162 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis by FISH of a 22q11 deletion in two families. M F Portnoï, N Joyé, M Gonzales, S Demczuk, L Fermont, G Gaillard, G Bercau, G Morlier, and J L Taillemite J Med Genet 1998; 35: 165-168. doi:10.1136/jmg.35.2.165 [Abstract] [PDF] [Request Permissions]

	A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy. K S Reddy and M B Larsen J Med Genet 1998; 35: 169-172. doi:10.1136/jmg.35.2.169 [Abstract] [PDF] [Request Permissions]

	Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. C Hayward, D J Brock, R A Minns, and R J Swingler J Med Genet 1998; 35: 174. doi:10.1136/jmg.35.2.174 [PDF] [Request Permissions]

	RP11 is the second most common locus for dominant retinitis pigmentosa. E Vithana, M Al-Maghtheh, S S Bhattacharya, and C F Inglehearn J Med Genet 1998; 35: 174-175. doi:10.1136/jmg.35.2.174-a [PDF] [Request Permissions]