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Articles |
| Familial Robertsonian translocation 15;21 and rare paracentric inv(21): unexpected re-inversion in a child with translocation trisomy 21 |
815 |
| Ulrike A Mau,
Uwe R Petruch,
Peter Kaiser & Thomas Eggermann
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Abstract
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| PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism |
820 |
| Jeanne Amiel,
Sophie Audollent,
Dominique Joly,
Pascal Dureau,
Rémi Salomon,
Anne-Lorraine Tellier,
Joelle Augé,
François Bouissou,
Corinne Antignac,
Marie-Claire Gubler,
Michel R Eccles,
Arnold Munnich,
Michel Vekemans,
Stanislas Lyonnet & Tania Attié-Bitach
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Abstract
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| CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands |
827 |
| Paul FJ Koppens,
Theo Hoogenboezem & Herman J Degenhart
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Abstract
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| Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations |
837 |
| Fabrice Cailloux,
Fernande Gauthier-Barichard,
Corinne Mimault,
Valerie Isabelle,
Virginie Courtois,
Geneviève Giraud,
Bernard Dastugue,
Odile Boespflug-Tanguy & Clinical European Network on Brain Dysmyelinating Disease†
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Abstract
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| Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis |
846 |
| Paola Forabosco,
Andrew Collins,
Anna Latiano,
Vito Annese,
Maurizio Clementi,
Angelo Andriulli,
Paolo Fortina,
Marcella Devoto & Newton E Morton on behalf of the GISC
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Abstract
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| Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families |
853 |
| Lyle J Palmer,
Paul R Burton,
Alan L James,
A William Musk & William OCM Cookson
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Abstract
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| Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9 |
861 |
| Ilja Demuth,
Marcin Wlodarski,
Alex J Tipping,
Neil V Morgan,
Johan P de Winter,
Michaela Thiel,
Sonja Gräsl,
Detlev Schindler,
Alan D D'Andrea,
Cigdem Altay,
Hülya Kayserili,
Adriana Zatterale,
Jürgen Kunze,
Wolfram Ebell,
Christopher G Mathew,
Hans Joenje,
Karl Sperling & Martin Digweed
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Abstract
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| Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome |
869 |
| C E Schwartz,
G Gillessen-Kaesbach,
M May,
M Cappa,
J Gorski,
K Steindl & G Neri
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Abstract
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| Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome |
875 |
| Naomichi Matsumoto,
Donna E David,
Eric W Johnson,
David Konecki,
James K Burmester,
David H Ledbetter & James L Weber
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Abstract
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| Simple two-color array-based approach for mutation detection |
884 |
| Paolo Fortina,
Kathleen Delgrosso,
Taku Sakazume,
Rosa Santacroce,
Stephane Moutereau,
Hung-Ju Su,
David Graves,
Steven McKenzie & Saul Surrey
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Abstract
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Short Reports |
| Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11-q13 |
895 |
| R Cusano,
S Gangarossa,
P Forabosco,
G Caridi,
G M Ghiggeri,
G Russo,
A Iolascon,
R Ravazzolo & M Seri
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Abstract
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| Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations |
900 |
| Raymonda Varon,
Eva Seemanova,
Krystyna Chrzanowska,
Oleg Hnateyko,
Dorota Piekutowska-Abramczuk,
Malgorzata Krajewska-Walasek,
Jolanta Sykut-Cegielska,
Karl Sperling & André Reis
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Abstract
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