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November 1998 (Volume 35, Number 11). [Index by author]

		Abstracts Book Review Research Article

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Abstracts

Medical genetics: advances in brief: Novel molecular variants of the Na-K-2C1 cotransporter gene are responsible for antenatal Bartter syndrome
Frances Flinter
J Med Genet 1998; 35: 961. doi:10.1136/jmg.35.11.961 [PDF] [Request Permissions]

Medical genetics: advances in brief: Role of the region 3' to Xist exon 6 in the counting process of X-chromosome inactivation
David O Robinson
J Med Genet 1998; 35: 961. doi:10.1136/jmg.35.11.961-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Linkage-disequilibrium mapping of autistic disorder with 15q11-13 markers
Frances Flinter
J Med Genet 1998; 35: 961. doi:10.1136/jmg.35.11.961-b [PDF] [Request Permissions]

Book Review

Lancelot Hogben Scientific Humanist. An Unauthorised Autobiography
John H Edwards
J Med Genet 1998; 35: 966-968. doi:10.1136/jmg.35.11.966 [PDF] [Request Permissions]

Research Article

Germline PTEN mutations in Cowden syndrome-like families.
D J Marsh, P L Dahia, S Caron, J B Kum, I M Frayling, I P Tomlinson, K S Hughes, R A Eeles, S V Hodgson, V A Murday, R Houlston, and C Eng
J Med Genet 1998; 35: 881-885. doi:10.1136/jmg.35.11.881 [Abstract] [PDF] [Request Permissions]

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
M Longy, V Coulon, B Duboué, A David, M Larrègue, C Eng, P Amati, J L Kraimps, A Bottani, D Lacombe, and D Bonneau
J Med Genet 1998; 35: 886-889. doi:10.1136/jmg.35.11.886 [Abstract] [PDF] [Request Permissions]

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.
K Merienne, S Jacquot, E Trivier, S Pannetier, A Rossi, C Scott, A Schinzel, C Castellan, W Kress, and A Hanauer
J Med Genet 1998; 35: 890-894. doi:10.1136/jmg.35.11.890 [Abstract] [PDF] [Request Permissions]

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
M Jaksch, S Hofmann, S Kleinle, S Liechti-Gallati, D E Pongratz, J Müller-Höcker, K B Jedele, T Meitinger, and K D Gerbitz
J Med Genet 1998; 35: 895-900. doi:10.1136/jmg.35.11.895 [Abstract] [PDF] [Request Permissions]

The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
R C Michaelis, Y Z Du, and C E Schwartz
J Med Genet 1998; 35: 901-904. doi:10.1136/jmg.35.11.901 [Abstract] [PDF] [Request Permissions]

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
D Trump, P H Dixon, S Mumm, C Wooding, K E Davies, D Schlessinger, M P Whyte, and R V Thakker
J Med Genet 1998; 35: 905-909. doi:10.1136/jmg.35.11.905 [Abstract] [PDF] [Request Permissions]

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
C E Beesley, E P Young, A Vellodi, and B G Winchester
J Med Genet 1998; 35: 910-914. doi:10.1136/jmg.35.11.910 [Abstract] [PDF] [Request Permissions]

Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.
M Sato, S Matsubara, A Miyauchi, H Ohye, H Imachi, K Murao, and J Takahara
J Med Genet 1998; 35: 915-919. doi:10.1136/jmg.35.11.915 [Abstract] [PDF] [Request Permissions]

Classical lissencephaly syndromes: does the face reflect the brain?
J E Allanson, D H Ledbetter, and W B Dobyns
J Med Genet 1998; 35: 920-923. doi:10.1136/jmg.35.11.920 [Abstract] [PDF] [Request Permissions]

Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?
M V Zaragoza, E Millie, R W Redline, and T J Hassold
J Med Genet 1998; 35: 924-931. doi:10.1136/jmg.35.11.924 [Abstract] [PDF] [Request Permissions]

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
C Stavropoulou, C Mignon, B Delobel, A Moncla, D Depetris, M F Croquette, and M G Mattei
J Med Genet 1998; 35: 932-938. doi:10.1136/jmg.35.11.932 [Abstract] [PDF] [Request Permissions]

Two 22q telomere deletions serendipitously detected by FISH.
K S Precht, C M Lese, R P Spiro, P R Huttenlocher, K M Johnston, J C Baker, S L Christian, K Kittikamron, and D H Ledbetter
J Med Genet 1998; 35: 939-942. doi:10.1136/jmg.35.11.939 [Abstract] [PDF] [Request Permissions]

Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.
A Verloes, C Curry, M Jamar, C Herens, P O'Lague, J Marks, P Sarda, and P Blanchet
J Med Genet 1998; 35: 943-947. doi:10.1136/jmg.35.11.943 [Abstract] [PDF] [Request Permissions]

Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?
H L Peters and A Bankier
J Med Genet 1998; 35: 948-950. doi:10.1136/jmg.35.11.948 [Abstract] [PDF] [Request Permissions]

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
E S Moreira, M Vainzof, S K Marie, V Nigro, M Zatz, and M R Passos-Bueno
J Med Genet 1998; 35: 951-953. doi:10.1136/jmg.35.11.951 [Abstract] [PDF] [Request Permissions]

Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.
S Pinson, J Yaouanq, A M Jouanolle, B Turlin, and H Plauchu
J Med Genet 1998; 35: 954-956. doi:10.1136/jmg.35.11.954 [Abstract] [PDF] [Request Permissions]

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.
A M Kennan, F C Mansergh, J H Fingert, T Clark, C Ayuso, P F Kenna, P Humphries, and G J Farrar
J Med Genet 1998; 35: 957-960. doi:10.1136/jmg.35.11.957 [Abstract] [PDF] [Request Permissions]

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.
O Combarros, A Oterino, J Berciano, A Benito, and J L Fernández-Luna
J Med Genet 1998; 35: 962-963. doi:10.1136/jmg.35.11.962 [PDF] [Request Permissions]

Pitfalls in the diagnosis of mtDNA mutations.
S Seneca, W Lissens, I Liebaers, P van den Bergh, M C Nassogne, A Benatar, and L de Meirleir
J Med Genet 1998; 35: 963-964. doi:10.1136/jmg.35.11.963 [PDF] [Request Permissions]

Severe primary pulmonary hypoplasia ("acinar dysplasia") in sibs: a genetically determined mesodermal defect?
P Moerman, C Vanhole, H Devlieger, and J P Fryns
J Med Genet 1998; 35: 964-965. doi:10.1136/jmg.35.11.964 [PDF] [Request Permissions]

Coexistence of Gaucher disease type 1 and Joubert syndrome.
A van Royen-Kerkhof, B T Poll-The, W J Kleijer, O P van Diggelen, J M Aerts, J J Hopwood, and F A Beemer
J Med Genet 1998; 35: 965-966. doi:10.1136/jmg.35.11.965 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Novel molecular variants of the Na-K-2C1 cotransporter gene are responsible for antenatal Bartter syndrome Frances Flinter J Med Genet 1998; 35: 961. doi:10.1136/jmg.35.11.961 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Role of the region 3' to Xist exon 6 in the counting process of X-chromosome inactivation David O Robinson J Med Genet 1998; 35: 961. doi:10.1136/jmg.35.11.961-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Linkage-disequilibrium mapping of autistic disorder with 15q11-13 markers Frances Flinter J Med Genet 1998; 35: 961. doi:10.1136/jmg.35.11.961-b [PDF] [Request Permissions]

	Lancelot Hogben Scientific Humanist. An Unauthorised Autobiography John H Edwards J Med Genet 1998; 35: 966-968. doi:10.1136/jmg.35.11.966 [PDF] [Request Permissions]

	Germline PTEN mutations in Cowden syndrome-like families. D J Marsh, P L Dahia, S Caron, J B Kum, I M Frayling, I P Tomlinson, K S Hughes, R A Eeles, S V Hodgson, V A Murday, R Houlston, and C Eng J Med Genet 1998; 35: 881-885. doi:10.1136/jmg.35.11.881 [Abstract] [PDF] [Request Permissions]

	Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. M Longy, V Coulon, B Duboué, A David, M Larrègue, C Eng, P Amati, J L Kraimps, A Bottani, D Lacombe, and D Bonneau J Med Genet 1998; 35: 886-889. doi:10.1136/jmg.35.11.886 [Abstract] [PDF] [Request Permissions]

	Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. K Merienne, S Jacquot, E Trivier, S Pannetier, A Rossi, C Scott, A Schinzel, C Castellan, W Kress, and A Hanauer J Med Genet 1998; 35: 890-894. doi:10.1136/jmg.35.11.890 [Abstract] [PDF] [Request Permissions]

	A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. M Jaksch, S Hofmann, S Kleinle, S Liechti-Gallati, D E Pongratz, J Müller-Höcker, K B Jedele, T Meitinger, and K D Gerbitz J Med Genet 1998; 35: 895-900. doi:10.1136/jmg.35.11.895 [Abstract] [PDF] [Request Permissions]

	The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. R C Michaelis, Y Z Du, and C E Schwartz J Med Genet 1998; 35: 901-904. doi:10.1136/jmg.35.11.901 [Abstract] [PDF] [Request Permissions]

	Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. D Trump, P H Dixon, S Mumm, C Wooding, K E Davies, D Schlessinger, M P Whyte, and R V Thakker J Med Genet 1998; 35: 905-909. doi:10.1136/jmg.35.11.905 [Abstract] [PDF] [Request Permissions]

	Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). C E Beesley, E P Young, A Vellodi, and B G Winchester J Med Genet 1998; 35: 910-914. doi:10.1136/jmg.35.11.910 [Abstract] [PDF] [Request Permissions]

	Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. M Sato, S Matsubara, A Miyauchi, H Ohye, H Imachi, K Murao, and J Takahara J Med Genet 1998; 35: 915-919. doi:10.1136/jmg.35.11.915 [Abstract] [PDF] [Request Permissions]

	Classical lissencephaly syndromes: does the face reflect the brain? J E Allanson, D H Ledbetter, and W B Dobyns J Med Genet 1998; 35: 920-923. doi:10.1136/jmg.35.11.920 [Abstract] [PDF] [Request Permissions]

	Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology? M V Zaragoza, E Millie, R W Redline, and T J Hassold J Med Genet 1998; 35: 924-931. doi:10.1136/jmg.35.11.924 [Abstract] [PDF] [Request Permissions]

	Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study. C Stavropoulou, C Mignon, B Delobel, A Moncla, D Depetris, M F Croquette, and M G Mattei J Med Genet 1998; 35: 932-938. doi:10.1136/jmg.35.11.932 [Abstract] [PDF] [Request Permissions]

	Two 22q telomere deletions serendipitously detected by FISH. K S Precht, C M Lese, R P Spiro, P R Huttenlocher, K M Johnston, J C Baker, S L Christian, K Kittikamron, and D H Ledbetter J Med Genet 1998; 35: 939-942. doi:10.1136/jmg.35.11.939 [Abstract] [PDF] [Request Permissions]

	Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association. A Verloes, C Curry, M Jamar, C Herens, P O'Lague, J Marks, P Sarda, and P Blanchet J Med Genet 1998; 35: 943-947. doi:10.1136/jmg.35.11.943 [Abstract] [PDF] [Request Permissions]

	Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness? H L Peters and A Bankier J Med Genet 1998; 35: 948-950. doi:10.1136/jmg.35.11.948 [Abstract] [PDF] [Request Permissions]

	A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. E S Moreira, M Vainzof, S K Marie, V Nigro, M Zatz, and M R Passos-Bueno J Med Genet 1998; 35: 951-953. doi:10.1136/jmg.35.11.951 [Abstract] [PDF] [Request Permissions]

	Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis. S Pinson, J Yaouanq, A M Jouanolle, B Turlin, and H Plauchu J Med Genet 1998; 35: 954-956. doi:10.1136/jmg.35.11.954 [Abstract] [PDF] [Request Permissions]

	A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. A M Kennan, F C Mansergh, J H Fingert, T Clark, C Ayuso, P F Kenna, P Humphries, and G J Farrar J Med Genet 1998; 35: 957-960. doi:10.1136/jmg.35.11.957 [Abstract] [PDF] [Request Permissions]

	Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment. O Combarros, A Oterino, J Berciano, A Benito, and J L Fernández-Luna J Med Genet 1998; 35: 962-963. doi:10.1136/jmg.35.11.962 [PDF] [Request Permissions]

	Pitfalls in the diagnosis of mtDNA mutations. S Seneca, W Lissens, I Liebaers, P van den Bergh, M C Nassogne, A Benatar, and L de Meirleir J Med Genet 1998; 35: 963-964. doi:10.1136/jmg.35.11.963 [PDF] [Request Permissions]

	Severe primary pulmonary hypoplasia ("acinar dysplasia") in sibs: a genetically determined mesodermal defect? P Moerman, C Vanhole, H Devlieger, and J P Fryns J Med Genet 1998; 35: 964-965. doi:10.1136/jmg.35.11.964 [PDF] [Request Permissions]

	Coexistence of Gaucher disease type 1 and Joubert syndrome. A van Royen-Kerkhof, B T Poll-The, W J Kleijer, O P van Diggelen, J M Aerts, J J Hopwood, and F A Beemer J Med Genet 1998; 35: 965-966. doi:10.1136/jmg.35.11.965 [PDF] [Request Permissions]