|
|
Letters |
| MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13 |
621 |
| Célia D DeLozier-Blanchet,
Charles-Antoine Haenggeli & Armand Bottani
|
|
Full Article (PDF)
|
|
| More evidence that founder effects exist in the European population |
623 |
| Jeremy Chataway,
Stephen Sawcer,
Robert Feakes,
Francesca Coraddu,
Simon Broadley,
Julia Gray & Alastair Compston
|
|
Full Article (PDF)
|
|
Articles |
| Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis |
625 |
| Elina Laiho,
Kirsti-Maria Niemi,
Jaakko Ignatius,
Juha Kere,
Aarno Palotie & Ulpu Saarialho-Kere
|
|
Abstract
Full Article (PDF)
|
|
| Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1 |
633 |
| Rémi Dufourcq-Lagelouse,
Nathalie Lambert,
Michel Duval,
Géraldine Viot,
Etienne Vilmer,
Alain Fischer,
Marguerite Prieur & Geneviève de Saint Basile
|
|
Abstract
Full Article (PDF)
|
|
| A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect |
638 |
| Gabriele Gillessen-Kaesbach,
Stephanie Demuth,
Hannelore Thiele,
Ursel Theile,
Christina Lich & Bernhard Horsthemke
|
|
Abstract
Full Article (PDF)
|
|
| Allelic heterogeneity of alkaptonuria in Central Europe |
645 |
| CR Müller,
A Fregin,
S Srsen,
K Srsnova,
B Halliger-Keller,
U Felbor,
E Seemanova & W Kress
|
|
Abstract
Full Article (PDF)
|
|
| Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer's disease patients |
652 |
| Mikko Hiltunen,
Arto Mannermaa,
Anne Maria Koivisto,
Maarit Lehtovirta,
Seppo Helisalmi,
Markku Ryynänen,
Paavo Riekkinen Sr & Hilkka Soininen
|
|
Abstract
Full Article (PDF)
|
|
| Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease |
659 |
| Louise Tilley,
Kevin Morgan,
Joe Grainger,
Peter Marsters,
Linda Morgan,
James Lowe,
John Xuereb,
Charles Wischik,
Charles Harrington & Noor Kalsheker
|
|
Abstract
Full Article (PDF)
|
|
| Identification of the Finnish founder mutation for diastrophic dysplasia (DTD) |
664 |
| Johanna Hästbacka,
Anne Kerrebrock,
Kati Mokkala,
Gregory Clines,
Michael Lovett,
Ilkka Kaitila,
Albert de la Chapelle & Eric S Lander
|
|
Abstract
Full Article (PDF)
|
|
| Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation |
671 |
| Jean McGowan-Jordan,
Karen Stoddard,
Luba Podolsky,
Elaine Orrbine,
Peter McLaine,
Margaret Town,
Paul Goodyer,
Alex MacKenzie & Hans Heick
|
|
Abstract
Full Article (PDF)
|
|
| Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections |
679 |
| Maria-Grazia Neonato,
Chang Yong Lu,
Monique Guilloud-Bataille,
Claudine Lapouméroulie,
Hassan Nabeel-Jassim,
Dominique Dabit,
Robert Girot,
Rajagopal Krishnamoorthy,
Josué Feingold,
Claude Besmond & Jacques Elion
|
|
Abstract
Full Article (PDF)
|
|
| Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa |
687 |
| Maria Giuseppina Miano,
Francesco Testa,
Maria Strazzullo,
Mariajose Trujillo,
Carmelilia De Bernardo,
Barbara Grammatico,
Francesca Simonelli,
Massimo Mangino,
Isabella Torrente,
Giulio Ruberto,
Magdalena Beneyto,
Guillermo Antinolo,
Ernesto Rinaldi,
Cesare Danesino,
Valerio Ventruto,
Michele D'Urso,
Carmen Ayuso,
Monserrat Baiget & Alfredo Ciccodicola
|
|
Abstract
Full Article (PDF)
|
|
| Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis |
695 |
| Marina De Rosa,
Maria I Scarano,
Luigi Panariello,
Nicola Carlomagno,
Giovanni B Rossi,
Alfonso Tempesta,
Patrizia Borgheresi,
Andrea Renda & Paola Izzo
|
|
Abstract
Full Article (PDF)
|
|
| Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome |
704 |
| Carles Pucharcós,
Juan-José Fuentes,
Caty Casas,
Susana de la Luna,
Soledad Alcántara,
Maria L Arbonés,
Eduardo Soriano,
Xavier Estivill & Melanie Pritchard*
|
|
Abstract
Full Article (PDF)
|
|
| Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling |
713 |
| MGEM Ausems,
J Verbiest,
MMP Hermans,
MA Kroos,
FA Beemer,
JHJ Wokke,
LA Sandkuijl,
AJJ Reuser & AT van der Ploeg
|
|
Abstract
Full Article (PDF)
|
|
| The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a |
717 |
| Maria Veiga-da-Cunha,
Isabelle Gerin,
Yuan-Tsong Chen,
Philip J Lee,
James V Leonard,
Irène Maire,
Udo Wendel,
Miikka Vikkula & Emile Van Schaftingen
|
|
Abstract
Full Article (PDF)
|
|
Short Reports |
| Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene |
724 |
| Lars Allan Larsen,
Inger Fosdal,
Paal Skytt Andersen,
Jørgen K Kanters,
Jens Vuust,
Göran Wettrell & Michael Christiansen
|
|
Abstract
Full Article (PDF)
|
|
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1 gene: implications for predictive testing |
729 |
| Z Miedzybrodzka,
AT Hattersley,
S Ellard,
D Pearson,
D de Silva,
R Harvey & N Haites
|
|
Abstract
Full Article (PDF)
|
|
| Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations |
733 |
| Carlo Previderé*,
Liborio Stuppia,
Valentina Gatta,
Paolo Fattorini,
Giandomenico Palka & Chris Tyler-Smith
|
|
Abstract
Full Article (PDF)
|
|
