J Med Genet -- Table of Contents (41 [9])

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September 2004 (Volume 41, Number 9). [Index by author]

		Obituaries Reviews Original articles Short reports Letters to JMG Electronic letters Online mutation reports

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Obituaries

Robin M Winter
Walter E Nance
J Med Genet 2004; 41: 718. doi:10.1136/jmg.2004.022418 [Extract] [Full text] [PDF] [Request Permissions]

Robin M Winter—a colleagues’ perspective
E M Rosser and L M Wilson
J Med Genet 2004; 41: 718-720. doi:10.1136/jmg.2004.021766 [Extract] [Full text] [PDF] [Request Permissions]

Reviews

The genetics of strabismus
M Michaelides and A T Moore
J Med Genet 2004; 41: 641-646. doi:10.1136/jmg.2004.021667 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma
R Melki, E Colomb, N Lefort, A P Brézin, and H-J Garchon
J Med Genet 2004; 41: 647-651. doi:10.1136/jmg.2004.020024 [Abstract] [Full text] [PDF] [Request Permissions]

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family
C G F de Kovel, F A Hol, J G A M Heister, J J H T Willemen, L A Sandkuijl, B Franke, and G W Padberg
J Med Genet 2004; 41: 652-657. doi:10.1136/jmg.2003.012294 [Abstract] [Full text] [PDF] [Request Permissions]

Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults
S Weidinger, N Klopp, S Wagenpfeil, L Rümmler, M Schedel, M Kabesch, T Schäfer, U Darsow, T Jakob, H Behrendt, H E Wichmann, J Ring, and T Illig
J Med Genet 2004; 41: 658-663. doi:10.1136/jmg.2004.020263 [Abstract] [Full text] [PDF] [Request Permissions]

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
E Domingo, P Laiho, M Ollikainen, M Pinto, L Wang, A J French, J Westra, T Frebourg, E Espín, M Armengol, R Hamelin, H Yamamoto, R M W Hofstra, R Seruca, A Lindblom, P Peltomäki, S N Thibodeau, L A Aaltonen, and S Schwartz, Jr
J Med Genet 2004; 41: 664-668. doi:10.1136/jmg.2004.020651 [Abstract] [Full text] [PDF] [Request Permissions]

Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
N M Solomon, S A Ross, T Morgan, J L Belsky, F A Hol, P S Karnes, N J Hopwood, S E Myers, A S Tan, G L Warne, S M Forrest, and P Q Thomas
J Med Genet 2004; 41: 669-678. doi:10.1136/jmg.2003.016949 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)
J Ramser, B Winnepenninckx, C Lenski, V Errijgers, M Platzer, C E Schwartz, A Meindl, and R F Kooy
J Med Genet 2004; 41: 679-683. doi:10.1136/jmg.2004.019000 [Abstract] [Full text] [PDF] [Request Permissions]

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
S M Reamon-Buettner and J Borlak
J Med Genet 2004; 41: 684-690. doi:10.1136/jmg.2003.017483 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
G Van Buggenhout, C Melotte, B Dutta, G Froyen, P Van Hummelen, P Marynen, G Matthijs, T de Ravel, K Devriendt, J P Fryns, and J R Vermeesch
J Med Genet 2004; 41: 691-698. doi:10.1136/jmg.2003.016865 [Extract] [Full text] [PDF] [Request Permissions]

Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2–q33.2
A I den Hollander, J J C van Lith-Verhoeven, F F J Kersten, J G A M Heister, C G F de Kovel, A F Deutman, C B Hoyng, and F P M Cremers
J Med Genet 2004; 41: 699-702. doi:10.1136/jmg.2004.019562 [Extract] [Full text] [PDF] [Request Permissions]

An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma
B E Baysal, J E Willett-Brozick, P A A Filho, E C Lawrence, E N Myers, and R E Ferrell
J Med Genet 2004; 41: 703-709. doi:10.1136/jmg.2004.019224 [Extract] [Full text] [PDF] [Request Permissions]

Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures
L Claes, D Audenaert, L Deprez, W Van Paesschen, C Depondt, D Goossens, J Del-Favero, C Van Broeckhoven, and P De Jonghe
J Med Genet 2004; 41: 710-714. doi:10.1136/jmg.2004.019257 [Extract] [Full text] [PDF] [Request Permissions]

Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome
C J Reddel and A S Weiss
J Med Genet 2004; 41: 715-717. doi:10.1136/jmg.2004.019323 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier, P Calvas, H Dollfus, P Belenguer, Y Malthièry, G Lenaers, and D Bonneau
J Med Genet 2004; 41: e110. doi:10.1136/jmg.2003.016576 [Extract] [Full text] [PDF] [Request Permissions]

Single nucleotide polymorphism (SNP) analysis of mouse quantitative trait loci for identification of candidate genes
Y Yan, M Wang, W J Lemon, and M You
J Med Genet 2004; 41: e111. doi:10.1136/jmg.2004.020016 [Extract] [Full text] [PDF] [Request Permissions]

Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn’s disease
S L F Pender, P J P Croucher, S Mascheretti, J D Prothero, S A Fisher, T T MacDonald, S Schreiber, and Shu Ye
J Med Genet 2004; 41: e112. doi:10.1136/jmg.2004.023572 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
W Borozdin, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Mühlendyck, R Winter, Ö Giray, F Silan, and J Kohlhase
J Med Genet 2004; 41: e113. doi:10.1136/jmg.2004.019901 [Extract] [Full text] [PDF] [Request Permissions]

Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer
S-M Karppinen, K Heikkinen, K Rapakko, and R Winqvist
J Med Genet 2004; 41: e114. doi:10.1136/jmg.2004.020669 [Extract] [Full text] [PDF] [Request Permissions]

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	Robin M Winter Walter E Nance J Med Genet 2004; 41: 718. doi:10.1136/jmg.2004.022418 [Extract] [Full text] [PDF] [Request Permissions]

	Robin M Winter—a colleagues’ perspective E M Rosser and L M Wilson J Med Genet 2004; 41: 718-720. doi:10.1136/jmg.2004.021766 [Extract] [Full text] [PDF] [Request Permissions]

	The genetics of strabismus M Michaelides and A T Moore J Med Genet 2004; 41: 641-646. doi:10.1136/jmg.2004.021667 [Abstract] [Full text] [PDF] [Request Permissions]

	CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma R Melki, E Colomb, N Lefort, A P Brézin, and H-J Garchon J Med Genet 2004; 41: 647-651. doi:10.1136/jmg.2004.020024 [Abstract] [Full text] [PDF] [Request Permissions]

	Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family C G F de Kovel, F A Hol, J G A M Heister, J J H T Willemen, L A Sandkuijl, B Franke, and G W Padberg J Med Genet 2004; 41: 652-657. doi:10.1136/jmg.2003.012294 [Abstract] [Full text] [PDF] [Request Permissions]

	*Association of a STAT 6* haplotype with elevated serum IgE levels in a population based cohort of white adults** S Weidinger, N Klopp, S Wagenpfeil, L Rümmler, M Schedel, M Kabesch, T Schäfer, U Darsow, T Jakob, H Behrendt, H E Wichmann, J Ring, and T Illig J Med Genet 2004; 41: 658-663. doi:10.1136/jmg.2004.020263 [Abstract] [Full text] [PDF] [Request Permissions]

	BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing E Domingo, P Laiho, M Ollikainen, M Pinto, L Wang, A J French, J Westra, T Frebourg, E Espín, M Armengol, R Hamelin, H Yamamoto, R M W Hofstra, R Seruca, A Lindblom, P Peltomäki, S N Thibodeau, L A Aaltonen, and S Schwartz, Jr J Med Genet 2004; 41: 664-668. doi:10.1136/jmg.2004.020651 [Abstract] [Full text] [PDF] [Request Permissions]

	Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 N M Solomon, S A Ross, T Morgan, J L Belsky, F A Hol, P S Karnes, N J Hopwood, S E Myers, A S Tan, G L Warne, S M Forrest, and P Q Thomas J Med Genet 2004; 41: 669-678. doi:10.1136/jmg.2003.016949 [Abstract] [Full text] [PDF] [Request Permissions]

	*A splice site mutation in the methyltransferase gene FTSJ1* in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)** J Ramser, B Winnepenninckx, C Lenski, V Errijgers, M Platzer, C E Schwartz, A Meindl, and R F Kooy J Med Genet 2004; 41: 679-683. doi:10.1136/jmg.2004.019000 [Abstract] [Full text] [PDF] [Request Permissions]

	Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease S M Reamon-Buettner and J Borlak J Med Genet 2004; 41: 684-690. doi:10.1136/jmg.2003.017483 [Abstract] [Full text] [PDF] [Request Permissions]

	Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map G Van Buggenhout, C Melotte, B Dutta, G Froyen, P Van Hummelen, P Marynen, G Matthijs, T de Ravel, K Devriendt, J P Fryns, and J R Vermeesch J Med Genet 2004; 41: 691-698. doi:10.1136/jmg.2003.016865 [Extract] [Full text] [PDF] [Request Permissions]

	Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2–q33.2 A I den Hollander, J J C van Lith-Verhoeven, F F J Kersten, J G A M Heister, C G F de Kovel, A F Deutman, C B Hoyng, and F P M Cremers J Med Genet 2004; 41: 699-702. doi:10.1136/jmg.2004.019562 [Extract] [Full text] [PDF] [Request Permissions]

	*An Alu-mediated partial SDHC* deletion causes familial and sporadic paraganglioma** B E Baysal, J E Willett-Brozick, P A A Filho, E C Lawrence, E N Myers, and R E Ferrell J Med Genet 2004; 41: 703-709. doi:10.1136/jmg.2004.019224 [Extract] [Full text] [PDF] [Request Permissions]

	Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures L Claes, D Audenaert, L Deprez, W Van Paesschen, C Depondt, D Goossens, J Del-Favero, C Van Broeckhoven, and P De Jonghe J Med Genet 2004; 41: 710-714. doi:10.1136/jmg.2004.019257 [Extract] [Full text] [PDF] [Request Permissions]

	Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome C J Reddel and A S Weiss J Med Genet 2004; 41: 715-717. doi:10.1136/jmg.2004.019323 [Extract] [Full text] [PDF] [Request Permissions]

	OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier, P Calvas, H Dollfus, P Belenguer, Y Malthièry, G Lenaers, and D Bonneau J Med Genet 2004; 41: e110. doi:10.1136/jmg.2003.016576 [Extract] [Full text] [PDF] [Request Permissions]

	Single nucleotide polymorphism (SNP) analysis of mouse quantitative trait loci for identification of candidate genes Y Yan, M Wang, W J Lemon, and M You J Med Genet 2004; 41: e111. doi:10.1136/jmg.2004.020016 [Extract] [Full text] [PDF] [Request Permissions]

	Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn’s disease S L F Pender, P J P Croucher, S Mascheretti, J D Prothero, S A Fisher, T T MacDonald, S Schreiber, and Shu Ye J Med Genet 2004; 41: e112. doi:10.1136/jmg.2004.023572 [Extract] [Full text] [PDF] [Request Permissions]

	SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism W Borozdin, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Mühlendyck, R Winter, Ö Giray, F Silan, and J Kohlhase J Med Genet 2004; 41: e113. doi:10.1136/jmg.2004.019901 [Extract] [Full text] [PDF] [Request Permissions]

	*Mutation screening of the BARD1* gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer** S-M Karppinen, K Heikkinen, K Rapakko, and R Winqvist J Med Genet 2004; 41: e114. doi:10.1136/jmg.2004.020669 [Extract] [Full text] [PDF] [Request Permissions]

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