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Articles |
| Analysis of mutations in the tudor domain of the survival motor neuron protein SMN |
519 |
| Payam Mohaghegh,
Nanda R Rodrigues,
Nicholas Owen,
Christopher P Ponting,
Thanh T Le,
Arthur HM Burghes & Kay E Davies
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Abstract
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| Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging |
526 |
| R Frank Kooy,
Edwin Reyniers,
Marleen Verhoye,
Jan Sijbers,
Cathy E Bakker,
Ben A Oostra,
Patrick J Willems & Annemie Van Der Linden
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Abstract
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| Maternal UPD 20 in a hyperactive child with severe growth retardation |
533 |
| I Chudoba,
Y Franke,
G Senger,
G Sauerbrei,
S Demuth,
V Beensen,
A Neumann,
I Hansmann & U Claussen
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Abstract
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| Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia |
541 |
| D Tentler,
P Gustavsson,
J Leisti,
M Schueler,
J Chelly,
E Timonen,
G Annerén,
HF Willard & N Dahl
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Abstract
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| Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers |
549 |
| Miriam Murphy,
Brian McHugh,
Orna Tighe,
Philip Mayne,
Charles O'Neill,
Eileen Naughten & David T Croke
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Abstract
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| Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews |
555 |
| Yael Patael,
Arie Figer,
Ruth Gershoni-Baruch,
Moshe Z Papa,
Shulamit Risel,
Rakefet Shtoyerman-Chen,
Avraham Karasik,
Livia Theodor & Eitan Friedman
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Abstract
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| Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter |
560 |
| Dora Angelicheva,
Ivailo Turnev,
Danielle Dye,
David Chandler,
PK Thomas & Luba Kalaydjieva
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Abstract
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| Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus - A GISC study |
567 |
| Vito Annese,
Anna Latiano,
Paola Bovio,
Paola Forabosco,
Ada Piepoli,
Giovanni Lombardi,
Arnaldo Andreoli,
Marco Astegiano,
Paolo Gionchetti,
Gabriele Riegler,
Giacomo C Sturniolo,
Maurizio Clementi,
Eric Rappaport,
Paolo Fortina,
Marcella Devoto,
Paolo Gasparini & Angelo Andriulli
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Abstract
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| Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family |
574 |
| Carla Rozzo,
Maurizio Fossarello,
Grazia Galleri,
Maria Giuseppina Miano,
Alfredo Ciccodicola,
Gabriella Sole & Mario Pirastu
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Abstract
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| Molecular and clinical examination of an Italian DEFECT 11 family |
579 |
| Wim Wuyts,
Giancarlo Di Gennaro,
Federico Bianco,
Jan Wauters,
Cristoforo Morocutti,
Francesco Pierelli,
Paul Bossuyt,
Wim Van Hul & Carlo Casali
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Abstract
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| Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1 |
585 |
| Aránzazu Cebrián,
Jose Luis Herrera-Pombo,
Juan José Díez,
Olga Sánchez-Vilar,
Jose Ignacio Lara,
Clotilde Vázquez,
Antonio Picó,
Ana Osorio,
Beatriz Martínez-Delgado,
Javier Benítez & Mercedes Robledo
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Abstract
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| Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease |
590 |
| Sabina Liechti-Gallati,
Vreni Schneider,
Dieter Neeser & Richard Kraemer
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Abstract
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Short Reports |
| Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium |
599 |
| Tania Aguirre,
Gert Matthijs,
Wim Robberecht,
Petra Tilkin & Jean-Jacques Cassiman
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Abstract
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| Further characteristics of proto-European Y chromosomes |
603 |
| Lluís Quintana-Murci,
Ornella Semino,
Eric Minch,
Giuseppe Passarimo,
Agnese Brega & A Silvana Santachiara-Benerecetti
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Abstract
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| Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association? |
609 |
| George Calin,
Juul Wijnen,
Heleen van der Klift,
Ana Ionita,
Adri Mulder,
Cor Breukel,
Ron Smits,
Hans Dauwerse,
Kerstin Hansson,
Steliana Calin,
Dragos Stefanescu,
Alexandru Oproiu & Riccardo Fodde
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Abstract
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| Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues |
615 |
| Denis Filisetti,
Georg Ostermann,
Moritz von Bredow,
Tim Strom,
Guido Filler,
Johen Ehrich,
Solange Pannetier,
Jean-Marie Garnier,
Peter Rowe,
Fiona Francis,
Annick Julienne,
André Hanauer,
Michael J Econs & Claudine Oudet
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