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Articles |
| A new human genetic resource: a DNA bank established as part of the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC) |
653 |
| Richard W Jones,
Susan Ring,
Linda Tyfield,
Renata Hamvas,
Hugh Simmons,
Marcus Pembrey,
Jean Golding & ALSPAC Study Team
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Abstract
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| High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes |
661 |
| Maria Kirchhoff,
Hanne Rose,
Jan Maahr,
Tommy Gerdes,
Merete Bugge,
Niels Tommerup,
Zeynep Tümer,
James Lespinasse,
Peter KA Jensen,
Jutta Wirth & Claes Lundsteen
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Abstract
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| Mitochondrial DNA sequences in prehistoric human remains from the Alps |
669 |
| Giulietta Di Benedetto,
Ivane S Nasidze,
Michele Stenico,
Lorendana Nigro,
Matthias Krings,
Michele Lanzinger,
Linda Vigilant,
Mark Stoneking,
Svant Pääbo & Guido Barbujani
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| Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India |
678 |
| Srimanta Pramanik,
Priyadarshi Basu,
Prasanta K Gangopadhaya,
Krishna K Sinha,
D K Jha,
S Sinha,
Shyamal K Das,
Bibek K Maity,
Subhas C Mukherjee,
Sushanta Roychoudhuri,
Partha P Majumder & Nitai P Bhattacharyya
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Abstract
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| Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria |
683 |
| Ian G Jennings,
Richard GH Cotton & Bostjan Kobe
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Abstract
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| A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease |
697 |
| Christof Meischl,
Martin de Boer,
Anders Åhlin & Dirk Roos
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Abstract
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| X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3 |
704 |
| André Mégarbané,
Nabiha Salem,
Edouard Stephan,
Ramzi Ashoush,
Didier Lenoir,
Valérie Delague,
Roland Kassab,
Jacques Loiselet & Patrice Bouvagnet
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Abstract
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| Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome |
709 |
| Dieter Kotzot & Albert Schinzel
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Short Reports |
| APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population |
713 |
| Laurence Zurutuza,
Patrice Verpillat,
Gregory Raux,
Didier Hannequin,
Michèle Puel,
Serge Belliard,
Agnès Michon,
Yolaine Pothin,
Agnès Camuzat,
Christiane Penet,
Cozette Martin,
Alexis Brice,
Dominique Campion,
Françoise Clerget-Darpoux & Thierry Frebourg
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Abstract
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| Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study |
717 |
| Cristina Bombieri,
Maurizio Luisetti,
Francesca Belpinati,
Elisa Zuliani,
Anna Beretta,
Jordan Baccheschi,
Lucio Casali & Pier Franco Pignatti
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| A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease |
721 |
| Paola Griseri,
Monica Sancandi,
Giovanna Patrone,
Renata Bocciardi,
Robert Hofstra,
Roberto Ravazzolo,
Marcella Devoto,
Giovanni Romeo & Isabella Ceccherini
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Abstract
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| Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene |
725 |
| Anja Homberger,
Michael Linnebank,
Carsten Winter,
Holger Willenbring,
Thorsten Marquardt,
Erik Harms & Hans Georg Koch
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