| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Abnormal brain structure in adults with Van der Woude syndrome
|
Nopoulos, P
|
|
2007
|
|
6 |
p. 511-517
|
article
|
| 2 |
A genome-wide linkage scan for iron phenotype quantitative trait loci: the HEIRS Family Study
|
Acton, RT
|
|
2007
|
|
6 |
p. 518-529
|
article
|
| 3 |
A gift or a yoke? Women’s and men’s responses to genetic risk information from BRCA1 and BRCA2 testing
|
d’Agincourt-Canning, L
|
|
2006
|
|
6 |
p. 462-472
|
article
|
| 4 |
Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine
|
Tonelli, A
|
|
2007
|
|
6 |
p. 517-523
|
article
|
| 5 |
A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability
|
Mononen, T
|
|
2007
|
|
6 |
p. 528-531
|
article
|
| 6 |
A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1
|
|
|
2006
|
|
6 |
p. 530-531
|
article
|
| 7 |
Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations
|
Rodrigues, RG
|
|
2007
|
|
6 |
p. 558-560
|
article
|
| 8 |
Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR
|
Giroux, S
|
|
2007
|
|
6 |
p. 569-575
|
article
|
| 9 |
Association of the estrogen receptor α gene polymorphisms with osteoporosis in the Mexican population
|
Gómez, R
|
|
2007
|
|
6 |
p. 574-581
|
article
|
| 10 |
Author index
|
|
|
2006
|
|
6 |
p. i-iii
|
article
|
| 11 |
Author index
|
|
|
2006
|
|
6 |
p. ii-iv
|
article
|
| 12 |
Brachydactyly type B1: report of a family with de novo ROR2 mutation
|
|
|
2006
|
|
6 |
p. 538-540
|
article
|
| 13 |
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population
|
Casasnovas, C
|
|
2006
|
|
6 |
p. 516-523
|
article
|
| 14 |
Constitutive deficiency in DNA mismatch repair
|
Felton, KEA
|
|
2007
|
|
6 |
p. 483-498
|
article
|
| 15 |
Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?
|
Felton, KEA
|
|
2007
|
|
6 |
p. 499-500
|
article
|
| 16 |
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome
|
Wieland, I
|
|
2007
|
|
6 |
p. 506-516
|
article
|
| 17 |
Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes
|
Walker, MB
|
|
2006
|
|
6 |
p. 471-479
|
article
|
| 18 |
Crigler–Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene
|
|
|
2006
|
|
6 |
p. 525-527
|
article
|
| 19 |
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly
|
|
|
2006
|
|
6 |
p. 535-537
|
article
|
| 20 |
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
|
Hever, AM
|
|
2006
|
|
6 |
p. 459-470
|
article
|
| 21 |
Digitisation of Clinical Genetics
|
|
|
2006
|
|
6 |
p. i
|
article
|
| 22 |
Do carriers of POLG mutation W748S have disease manifestations?
|
Rantamäki, M
|
|
2007
|
|
6 |
p. 532-537
|
article
|
| 23 |
Evidence against a major genetic basis for combined breast and colorectal cancer susceptibility
|
|
|
2006
|
|
6 |
p. 526-529
|
article
|
| 24 |
Factors in decision making following genetic counseling for pre-natal diagnosis of de novo chromosomal rearrangements
|
Wallerstein, R
|
|
2006
|
|
6 |
p. 497-503
|
article
|
| 25 |
Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta-analysis of 105 cases
|
Edelman, EA
|
|
2007
|
|
6 |
p. 540-550
|
article
|
| 26 |
Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates
|
de Leng, WWJ
|
|
2007
|
|
6 |
p. 568-573
|
article
|
| 27 |
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12
|
Malik, S
|
|
2006
|
|
6 |
p. 518-524
|
article
|
| 28 |
Genetic testing for heart disease susceptibility: potential impact on motivation to quit smoking
|
Sanderson, SC
|
|
2007
|
|
6 |
p. 501-510
|
article
|
| 29 |
Germline hMSH2 promoter mutation in a Chinese HNPCC kindred: evidence for dual role of LOH
|
Yan, H
|
|
2007
|
|
6 |
p. 556-561
|
article
|
| 30 |
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer
|
Barnetson, RA
|
|
2007
|
|
6 |
p. 551-555
|
article
|
| 31 |
β-Globin gene cluster polymorphisms are strongly associated with severity of HbE/β0-thalassemia
|
Ma, Q
|
|
2007
|
|
6 |
p. 497-505
|
article
|
| 32 |
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3
|
Hoffman, TL
|
|
2007
|
|
6 |
p. 551-557
|
article
|
| 33 |
High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia
|
Hofman-Bang, J
|
|
2006
|
|
6 |
p. 504-511
|
article
|
| 34 |
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan
|
Kitajiri, S-i
|
|
2007
|
|
6 |
p. 546-550
|
article
|
| 35 |
Imiglucerase (Cerezyme®) improves quality of life in patients with skeletal manifestations of Gaucher disease
|
Weinreb, N
|
|
2007
|
|
6 |
p. 576-588
|
article
|
| 36 |
Increased dental caries in people with neurofibromatosis 1
|
Tucker, T
|
|
2007
|
|
6 |
p. 524-527
|
article
|
| 37 |
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe
|
Møller, RS
|
|
2007
|
|
6 |
p. 593-598
|
article
|
| 38 |
Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9
|
|
|
2007
|
|
6 |
p. 597-598
|
article
|
| 39 |
Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population
|
Mostowska, A
|
|
2006
|
|
6 |
p. 512-517
|
article
|
| 40 |
Multiple primary malignancies in a patient with situs ambiguus
|
|
|
2006
|
|
6 |
p. 528-531
|
article
|
| 41 |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia
|
Taylor, A
|
|
2007
|
|
6 |
p. 561-568
|
article
|
| 42 |
Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer
|
Han, S-H
|
|
2006
|
|
6 |
p. 496-501
|
article
|
| 43 |
Mutations in the RSK2(RPS6KA3) gene cause Coffin–Lowry syndrome and nonsyndromic X-linked mental retardation
|
Field, M
|
|
2006
|
|
6 |
p. 509-515
|
article
|
| 44 |
Neighbor trouble: defective exocrine acinar cell function causes diabetes
|
Kruit, JK
|
|
2006
|
|
6 |
p. 460-461
|
article
|
| 45 |
Non-neuronopathic Gaucher disease due to saposin C deficiency
|
Tylki-Szymańska, A
|
|
2007
|
|
6 |
p. 538-542
|
article
|
| 46 |
Pejvakin echoes hope for the end of silence
|
Karasinska, JM
|
|
2006
|
|
6 |
p. 459-460
|
article
|
| 47 |
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning
|
Chung, W
|
|
2006
|
|
6 |
p. 502-508
|
article
|
| 48 |
Predictive and pre-natal testing for Huntington Disease in Australia: results and challenges encountered during a 10-year period (1994–2003)
|
Tassicker, RJ
|
|
2006
|
|
6 |
p. 480-489
|
article
|
| 49 |
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B
|
|
|
2006
|
|
6 |
p. 532-534
|
article
|
| 50 |
Response to Landires et al.
|
|
|
2007
|
|
6 |
p. 594-596
|
article
|
| 51 |
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q
|
|
|
2007
|
|
6 |
p. 599-601
|
article
|
| 52 |
Searching for the Aicardi–Goutières syndrome genes: TREX1 and ribonuclease H2 make the cut
|
Karasinska, JM
|
|
2006
|
|
6 |
p. 457-458
|
article
|
| 53 |
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia
|
Ivanova, N
|
|
2006
|
|
6 |
p. 490-495
|
article
|
| 54 |
Spectrum of mutations and variants/haplotypes of CFTR and genotype–phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis
|
Chang, Ming-Chu
|
|
2007
|
|
6 |
p. 530-539
|
article
|
| 55 |
Splicing generates a polycystin-2 variant with inverted topology
|
Stein, RA
|
|
2006
|
|
6 |
p. 480-481
|
article
|
| 56 |
Subject index
|
|
|
2006
|
|
6 |
p. v-vi
|
article
|
| 57 |
Subject index
|
|
|
2006
|
|
6 |
p. iv-v
|
article
|
| 58 |
Survival estimates for patients with Machado–Joseph disease (SCA3)
|
Kieling, C
|
|
2007
|
|
6 |
p. 543-545
|
article
|
| 59 |
Susceptibility genes in breast cancer: more is less?
|
Willems, Patrick J
|
|
2007
|
|
6 |
p. 493-496
|
article
|
| 60 |
The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population
|
|
|
2007
|
|
6 |
p. 599-600
|
article
|
| 61 |
The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition
|
Smith, JA
|
|
2006
|
|
6 |
p. 486-496
|
article
|
| 62 |
The position of the mutation within the LMNA gene determines the type and extent of tissue involvement in laminopathies
|
|
|
2007
|
|
6 |
p. 592-593
|
article
|
| 63 |
The presence of germ line mosaicism in cleidocranial dysplasia
|
Pal, T
|
|
2007
|
|
6 |
p. 589-591
|
article
|
| 64 |
The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP
|
Ramsoekh, D
|
|
2007
|
|
6 |
p. 562-567
|
article
|
| 65 |
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay
|
Krahn, M
|
|
2007
|
|
6 |
p. 582-592
|
article
|
| 66 |
Utilization of genetic counseling services by surgical oncologists: education a must
|
|
|
2006
|
|
6 |
p. 524-525
|
article
|
| 67 |
Wilms’ tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism
|
Hämäläinen, RH
|
|
2006
|
|
6 |
p. 473-479
|
article
|
Journal description