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Articles |
| Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint |
561 |
| Ph Debeer,
EFPM Schoenmakers,
R Thoelen,
M Holvoet,
T Kuittinen,
G Fabry,
J-P Fryns,
F R Goodman & WJM Van de Ven
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Abstract
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| A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? |
571 |
| David Johnson,
Steven A Wall,
Susan Mann & Andrew OM Wilkie
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Abstract
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| Spectrum of retGC1 mutations in Leber's congenital amaurosis |
578 |
| Isabelle Perrault,
Jean-Michel Rozet,
Sylvie Gerber,
Imad Ghazi,
Dominique Ducroq,
Eric Souied,
Corinne Leowski,
Michèle Bonnemaison,
Jean-Louis Dufier,
Arnold Munnich & Josseline Kaplan
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Abstract
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| Stability and haplotype analysis of the FRAXE region |
583 |
| Anna Murray,
Sarah Ennis,
Sheila A Youings,
Andrea J Sharrock,
Catherine Lewis,
Michelle C Pound,
James N Macpherson,
Nick R Dennis,
Newton E Morton & Patricia A Jacobs
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Abstract
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| Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families |
590 |
| Emanuel Yakobson,
Pnina Shemesh,
Esther Azizi,
Eyal Winkler,
Norman Lassam,
David Hogg,
Sharon Brookes,
Gordon Peters,
Michal Lotem,
Abraham Zlotogorski,
Marina Landau,
Mark Safro,
Raphael Shafir,
Eitan Friedman & Hava Peretz
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Abstract
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| Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q |
597 |
| Maria Clara Bonaglia,
Roberto Giorda,
Gerardina Poggi,
Maria Elisabetta Raggi,
Elena Rossi,
Anna Baroncini,
Sabrina Giglio,
Renato Borgatti & Orsetta Zuffardi
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Abstract
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| Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo |
604 |
| Teppo Varilo,
Maris Laan,
Iiris Hovatta,
Victor Wiebe,
Joseph D Terwilliger & Leena Peltonen
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Abstract
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| Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome |
613 |
Smal Hadj-Rabia,
Rémi Salomon,
Anna Pelet,
Clothilde Penet,
Annick Rotschild,
Marc-Henri de La t,
Beji Chaouachi,
Ratiba Hannachi,
Fawzi Bakiri,
Raja Brauner,
Jean-Louis Chaussain,
Arnold Munnich & Stanislas Lyonnet
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Abstract
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| Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects |
621 |
| Bruno Saint-Jore,
Mathilde Varret,
Christiane Dachet,
Jean-Pierre Rabès,
Martine Devillers,
Danielle Erlich,
Patricia Blanchard,
Michel Krempf,
Denis Mathé,
Bernard Chanu,
Bernard Jacotot,
Michel Farnier,
Catherine Bonati-Péllié,
Claudine Junien & Catherine Boileau
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Abstract
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| Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia |
631 |
| A Lund,
B Udd,
V Juvonen,
P M Andersen,
K Cederquist,
L-O Ronnevi,
P Sistonen,
S A Sörensen,
L Tranebjærg,
C Wallgren-Pettersson & M-L Savontaus
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Abstract
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Short Reports |
| Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features |
637 |
| Tjitske Kleefstra,
Guillaume van de Zande,
Gerard Merkx,
Hanneke Mieloo,
Jan MN Hoovers & Dominique Smeets
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Abstract
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| Mole maker phenotype: possible narrowing of the candidate region |
641 |
| A Sensi,
F Gualandi,
M C Pittalis,
O Calabrese,
F Falciano,
I Maestri,
L Bovicelli & E Calzolari
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Abstract
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| Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes |
645 |
| Deborah Krakow,
Denise Salazar,
William R Wilcox,
David L Rimoin & Daniel H Cohn
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Abstract
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| Identification of genetic heterogeneity in Refsum's disease |
649 |
| Anthony S Wierzbicki,
John Mitchell,
Michelle Lambert-Hammill,
Margaret Hancock,
Juliet Greenwood,
Margaret C Sidey,
Jacqueline de Belleroche & F Brian Gibberd
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