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Original Papers |
| Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene |
187 |
| G Calabrese,
L Stuppia,
E Morizio,
P Guanciali Franchi,
F Pompetti,
R Mingarelli,
T Marsilio,
M Rocchi,
PE Gallenga,
G Palka & B Dallapiccola
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| Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience |
194 |
| JHAM Tuerlings,
HF de France,
A Hamers,
R Hordijk,
JO Van Hemel,
K Hansson,
JMN Hoovers,
K Madan,
M Van Der Blij-Philipsen,
KBJ Gerssen-Schoorl,
JAM Kremer & DFCM Smeets
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Abstract
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| MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1-p22.13 |
201 |
| Rolf Steinmüller,
Daniela Steinberger & Ulrich Müller
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Abstract
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| Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies |
207 |
| Rowena S James,
Katrina Ellis,
Dorothy Pettay & Patricia A Jacobs
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Abstract
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| Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2) |
213 |
| Simone Schuffenhauer,
Peter Lichtner,
Popak Peykar-Derakhshandeh,
Jan Murken,
Oskar A Haas,
Elke Back,
Gerhard Wolff,
Bernhard Zabel,
Ingeborg Barisic,
Anita Rauch,
Zvi Borochowitz,
Bruno Dallapiccola,
Mark Ross & Thomas Meitinger
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Abstract
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| A complete protein truncation test for BRCA1 and BRCA2 |
226 |
| Alex M Garvin
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Abstract
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| Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect |
235 |
| Kirsten Laake,
Milhan Telatar,
Gry A Geitvik,
Rita Øien Hansen,
Arvid Heiberg,
Anne Marie Andresen,
Richard Gatti & Anne-Lise Børresen-Dale
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Abstract
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| A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36 |
245 |
| Mirna Mustapha,
Sébastien Chardenoux,
Alexandre Nieder,
Nabiha Salem,
Jean Weissenbach,
Elie El-Zir,
Jacques Loiselet & Christine Petit
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Abstract
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| Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene |
251 |
| Hatem El-Shanti,
Jeffrey C Murray,
Elena V Semina,
Kenneth H Beutow,
Titia Scherpbier & Jamil Al-Alami
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Abstract
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| Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency |
257 |
| Leo AJ Kluijtmans,
Udo Wendel,
Erik MB Stevens,
Lambert PWJ van den Heuvel,
Frans JM Trijbels & Henk J Blom
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Abstract
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| Integrated physical and transcript map of 5q31.3-qter |
266 |
| M Kostrzewa,
BW Krings,
MJ Dixon,
K Eppelt,
A Köhler,
DL Grady,
D Steinberger,
ND Fairweather,
RK Moyzis,
AP Monaco & U Müller
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Abstract
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| Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance |
275 |
| Paula C Byrne,
Stewart Webb,
Fergus McSweeney,
Teresa Burke,
Michael Hutchinson & Nollaig A Parfrey
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Abstract
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| Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse |
283 |
| Bettina Lorenz,
Carmela Migliaccio,
Peter Lichtner,
Carsten Meyer,
Tim M Strom,
Michele DUrso,
Jörg Becker,
Alfredo Ciccodicola & Thomas Meitinger
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| Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies |
291 |
| Jean-Michel Rozet,
Sylvie Gerber,
Eric Souied,
Isabelle Perrault,
Sophie Châtelin,
Imad Ghazi,
Corinne Leowski,
Jean-Louis Dufier,
Arnold Munnich & Josseline Kaplan
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