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Articles |
| Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb |
319 |
| G Calabrese,
L Telvi,
F Capodiferro,
E Morizio,
A Pizzuti,
L Stuppia,
R Bordoni,
A Ion,
D Fantasia,
R Mingarelli & G Palka
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Abstract
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| Preserved speech variant is allelic of classic Rett syndrome |
325 |
| Cristina De Bona,
Michele Zappella,
Giuseppe Hayek,
Ilaria Meloni,
Francesca Vitelli,
Mirella Bruttini,
Roberto Cusano,
Paola Loffredo,
Ilaria Longo & Alessandra Renieri
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Abstract
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| Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions |
331 |
| R Paul,
C Desnuelle,
J Pouget,
J F Pellissier,
C Richelme,
M F Monfort,
C Butori,
A Saunieres & V Paquis-Flucklinger
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Abstract
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| MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool |
339 |
| Ornella Semino,
Giuseppe Passarino,
Lluís Quintana-Murci,
Aiping Liu,
Judit Béres,
Andreas Czeizel & A Silvana Santachiara-Benerecetti
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Abstract
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| Cell type specificity in alternative splicing of the human mismatch repair gene hMSH2 |
347 |
| Luka A Clarke,
Peter Jordan & Maria Guida Boavida
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Abstract
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| Novel mutations in the duplicated region of PKD1 gene |
353 |
| R Perrichot,
B Mercier,
I Quere,
A Carre,
P Simon,
B Whebe,
J Cledes & C Ferec
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Abstract
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| Genetic structure of north-west Africa revealed by STR analysis |
360 |
| Elena Bosch,
Francesc Calafell,
Anna Pérez-Lezaun,
Jordi Clarimón,
David Comas,
Eva Mateu,
Rosa Martínez-Arias,
Bernal Morera,
Zahra Brakez,
Omar Akhayat,
Abdelaziz Sefiani,
Ghania Hariti,
Anne Cambon-Thomsen & Jaume Bertranpetit
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Abstract
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| Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia) |
367 |
| Els Schollen,
Susanne Kjaergaard,
Eric Legius,
Marianne Schwartz & Gert Matthijs
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Abstract
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| Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping |
372 |
| Zoha Kibar,
Marie-Pierre Dubé,
Julie Powell,
Catherine McCuag,
Susan J Hayflick,
Jonathan Zonana,
Alain Hovnanian,
Uppala Radhakrishna,
Stylianos E Antonarakis,
Antranik Benohanian,
Amy D Sheeran,
Mark L Stephan,
Richard Gosselin,
David P Kelsell,
Arnold L Christianson,
F Clarke Fraser,
Vazken M Der Kaloustian & Guy A Rouleau
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Abstract
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Short Reports |
| Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation |
381 |
| Susanna Ranta,
Yonghui Zhang,
Barbara Ross,
Elina Takkunen,
Aune Hirvasniemi,
Albert de la Chapelle,
T Conrad Gilliam & Anna-Elina Lehesjoki
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Abstract
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| No evidence for the involvement of CAG/CTG repeats from within 18q21.33-q23 in bipolar disorder |
385 |
| Dirk Goossens,
Sandra Villafuerte,
Fadel Tissir,
Sofie Van Gestel,
Stephan Claes,
Daniel Souery,
Isabelle Massat,
Dirk Van den Bossche,
Karel Van Zand,
Julien Mendlewicz,
Christine Van Broeckhoven & Jurgen Del-Favero
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Abstract
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| Haemochromatosis gene mutations and risk of coronary artery disease |
389 |
| Eva Battiloro,
Domenico Ombres,
Ester Pascale,
Ettore D'Ambrosio,
Roberto Verna & Marcello Arca
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Abstract
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| Microdissection of chromosome 2 - between-arm intrachromosomal insertion |
393 |
| Ursula Friedrich,
Mette Houman,
Jette Sandgaard,
Anni Rosgaard & Lone Sunde
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Abstract
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Book Review |
| Impact of Genomics on Health Care |
396 |
| J-J Cassiman
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Full Article (PDF)
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