| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
|
Ion, Andra
|
|
2002
|
|
4-5 |
p. 421-427
|
article
|
| 2 |
A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression
|
Ahn, Jung
|
|
2002
|
|
4-5 |
p. 339-349
|
article
|
| 3 |
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
|
Morgan, Neil V.
|
|
2002
|
|
4-5 |
p. 456-461
|
article
|
| 4 |
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved
|
McCready, Elizabeth M.
|
|
2002
|
|
4-5 |
p. 368-375
|
article
|
| 5 |
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene
|
Linnebank, Michael
|
|
2002
|
|
4-5 |
p. 350-359
|
article
|
| 6 |
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11
|
Salehi, Leila
|
|
2002
|
|
4-5 |
p. 401-404
|
article
|
| 7 |
Associations between gene expressions in breast cancer and patient survival
|
Jenssen, T.-K.
|
|
2002
|
|
4-5 |
p. 411-420
|
article
|
| 8 |
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
|
Monk, David
|
|
2002
|
|
4-5 |
p. 376-387
|
article
|
| 9 |
CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region
|
Hudson, Lori L.
|
|
2002
|
|
4-5 |
p. 452-455
|
article
|
| 10 |
Derek Chadwick, Jamie Goode (eds): The Genetics and Biology of Sex Determination (Novartis Symposium 244)
|
Greenfield, Andy
|
|
2002
|
|
4-5 |
p. 473-474
|
article
|
| 11 |
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes
|
Koppens, Paul F.
|
|
2002
|
|
4-5 |
p. 405-410
|
article
|
| 12 |
ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago
|
Shea, Patrick R.
|
|
2002
|
|
4-5 |
p. 398-400
|
article
|
| 13 |
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa
|
Le Saux, Olivier
|
|
2002
|
|
4-5 |
p. 331-338
|
article
|
| 14 |
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees
|
Semprini, Sabrina
|
|
2002
|
|
4-5 |
p. 310-313
|
article
|
| 15 |
Folate and human development
|
Fryer, Alan
|
|
2002
|
|
4-5 |
p. 470-471
|
article
|
| 16 |
Frontiers of hormone research (series editor: A.B. Grossman), volume 28: genetic disorders of endocrine neoplasia
|
Pearce, Simon
|
|
2002
|
|
4-5 |
p. 472
|
article
|
| 17 |
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency
|
Sumi, Satoshi
|
|
2002
|
|
4-5 |
p. 360-367
|
article
|
| 18 |
Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Reply
|
Riva, Paola
|
|
2002
|
|
4-5 |
p. 468-469
|
article
|
| 19 |
Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family
|
Tonkin, Emma
|
|
2002
|
|
4-5 |
p. 435-442
|
article
|
| 20 |
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
|
Verbeek, Dineke S.
|
|
2002
|
|
4-5 |
p. 388-393
|
article
|
| 21 |
Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12
|
Luedecking-Zimmer, Erin
|
|
2002
|
|
4-5 |
p. 443-451
|
article
|
| 22 |
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity
|
Génin, Emmanuelle
|
|
2002
|
|
4-5 |
p. 428-434
|
article
|
| 23 |
Mitochondrial DNA 5178A polymorphism and longevity
|
Yao, Yong-Gang
|
|
2002
|
|
4-5 |
p. 462-463
|
article
|
| 24 |
Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication
|
Kehrer-Sawatzki, Hildegard
|
|
2002
|
|
4-5 |
p. 465-467
|
article
|
| 25 |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts
|
Forlino, Antonella
|
|
2002
|
|
4-5 |
p. 314-322
|
article
|
| 26 |
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
|
Beyer, Kim S.
|
|
2002
|
|
4-5 |
p. 305-309
|
article
|
| 27 |
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
|
Ming, Jeffrey E.
|
|
2002
|
|
4-5 |
p. 464
|
article
|
| 28 |
October 2002
|
,
|
|
2002
|
|
4-5 |
p. 475
|
article
|
| 29 |
Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity
|
Stöber, Gerald
|
|
2002
|
|
4-5 |
p. 323-330
|
article
|
| 30 |
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
|
Liu, Xue
|
|
2002
|
|
4-5 |
p. 394-397
|
article
|
Journal description