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Articles |
| FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother |
157 |
| Cristiana Lo Nigro,
Francesca Faravelli,
Simona Cavani,
Lucia Perroni,
Paolo Novello,
Mariarosa Vitali,
Franca Dagna Bricarelli & Marina Grasso
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| Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease |
163 |
| Yvonne Hofmann,
Jutta Becker,
Felicia Wright,
Ellis D Avner,
Michal Mrug,
Lisa M Guay-Woodford,
Stefan Somlo,
Klaus Zerres,
Gregory G Germino & Luiz F Onuchic
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| FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates |
167 |
| Zhihong Shan,
Bernhard Zabel,
Udo Trautmann,
Ulrike Hillig,
Chris Ottolenghi,
Yayu Wang & Thomas Haaf
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| The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders |
174 |
| Carlos Cardoso,
Cecile Mignon,
Gilles Hetet,
Bernard Grandchamps,
Michel Fontes & Laurence Colleaux
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Abstract
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| Accuracy of family history of cancer: clinical genetic implications |
181 |
| Rolf H Sijmons,
Akkelies E Boonstra,
Jennita Reefhuis,
Jannet M Hordijk-Hos,
Hermien EK de Walle,
Jan C Oosterwijk & Martina C Cornel
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Abstract
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| Potential relationship between genotype and clinical outcome in propionic acidaemia patients |
187 |
| C Pérez-Cerdá,
B Merinero,
P Rodríguez-Pombo,
B Pérez,
L R Desviat,
S Muro,
E Richard,
M J García,
J Gangoiti,
P Ruiz Sala,
P Sanz,
P Briones,
A Ribes,
M Martínez-Pardo,
J Campistol,
M Pérez,
R Lama,
M L Murga,
T Lema-Garrett,
A Verdú & M Ugarte
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| Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome |
195 |
| J MW van den Ouweland,
J BC de Klerk,
M P van de Corput,
R W Dirks,
A K Raap,
H R Scholte,
J GM Huijmans,
L M 't Hart,
G J Bruining & J A Maassen
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| Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines |
204 |
| Claire Julian-Reynier,
François Eisinger,
Jean-Paul Moatti & Hagay Sobol
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Abstract
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| Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22 |
209 |
| Mirjam Luijten,
YingPing Wang,
Blaine T Smith,
Andries Westerveld,
Luc J Smink,
Ian Dunham,
Bruce A Roe & Theo JM Hulsebos
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Abstract
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| WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog |
215 |
| Oscar de Luis,
M Carmen Valero & Luis A Pérez Jurado
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Abstract
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| Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH |
223 |
| G E Moore,
P Ruangvutilert,
K Chatzimeletiou,
G Bell,
C-K Chen,
P Johnson & J C Harper
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| Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A |
229 |
Rafa lle Bernard,
Véronique Labelle,
Philippe Negre,
Sandrine Tardieu,
Jean-Philippe Azulay,
Perrine Malzac,
Jean-François Mattéi,
Eric Leguern,
Nicole Philip & Nicolas Lévy
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Meeting Report |
| DNA arrays: methods and applications: report on HUGO Meeting, Tartu, Estonia, 23-26 May, 1999 |
236 |
| C Auffray,
C Mundy & A Metspalu
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