| Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia |
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| Corrigendum |
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| Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost‐effectiveness of testing algorithms |
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| The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy |
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| Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study |
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| Co‐existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria |
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|
✓ |
✓ |
Italian families |
| Overlapping clinical phenotypes: the road to identifying dysmorphology signalling pathways and their associated risks |
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| The neoplastic risk in children with Noonan syndrome and Costello syndrome |
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| Early lethal autosomal recessive enterocolitis: report of a second family |
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| <i>ENG</i> mutations in <i>MADH4/BMPR1A</i> mutation negative patients with juvenile polyposis |
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| Diagnosis and management of early‐ and late‐onset cerebellar ataxia |
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| Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 |
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| In search of a familial cancer risk assessment tool |
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| Six novel mutations in the <i>GCK</i> gene in MODY patients |
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| Prevalence of C282Y, H63D and S65C mutations of the hemochromatosis (<i>HFE</i>) gene in a population from southeastern Spain (Murcia Region) |
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| A gift or a yoke? Women’s and men’s responses to genetic risk information from BRCA1 and BRCA2 testing |
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| <i>PKD2</i> gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two‐dimensional gene scanning |
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|
✓ |
✓ |
Korean |
| Clinical and molecular analysis of X‐linked Charcot‐Marie‐Tooth disease type 1 in Spanish population |
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✓ |
✓ |
Spanish population |
| Author index |
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| Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly |
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| Brachydactyly type B1: report of a family with <i>de novo ROR2</i> mutation |
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| Searching for the Aicardi–Goutières syndrome genes: TREX1 and ribonuclease H2 make the cut |
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| Pejvakin echoes hope for the end of silence |
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| Neighbor trouble: defective exocrine acinar cell function causes diabetes |
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| Mutation analysis of <i>BRCA1</i> and <i>BRCA2</i> from 793 Korean patients with sporadic breast cancer |
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| Subject index |
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| Mutations in the <i>RSK2(RPS6KA3)</i> gene cause Coffin–Lowry syndrome and nonsyndromic X‐linked mental retardation |
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| Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B |
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| The modular nature of genetic diseases |
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| A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1 |
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| Evidence against a major genetic basis for combined breast and colorectal cancer susceptibility |
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| Utilization of genetic counseling services by surgical oncologists: education a must |
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| Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia |
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✓ |
✓ |
Bulgarian, Turks and Gypsies; Bulgarian SPG4 patients |
| Wilms’ tumor and novel <i>TRIM37</i> mutations in an Australian patient with mulibrey nanism |
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✓ |
✓ |
Finnish population; Australian patient |
| Predictive and pre‐natal testing for Huntington Disease in Australia: results and challenges encountered during a 10‐year period (1994–2003) |
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| Erratum |
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| The post‐Human Genome Project mindset: race, reliability, and health care |
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✓ |
✓ |
race; racial categories; an emphasis on race in medicine and genetics; use of racial categories in m |
| Erratum |
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| An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus |
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| Association of the <i>CT</i> gene (CA) polymorphism with BMD in osteoporotic mexican women |
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| Introduction: genetic diversity and science communication |
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| Bad neighbors cause dementia; a second 17q21‐linked gene responsible for frontotemporal dementia |
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| Inherited association of breast and colorectal cancer: limited role of <i>CHEK2</i> compared with high‐penetrance genes |
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| Pathogenesis in SCA8 is a two‐way street |
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| Age‐related dysfunction of the cellular powerplants |
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| Chimera and other fertilization errors |
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| Large deletions of the <i>MECP2</i> gene in Chinese patients with classical Rett syndrome |
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| Science communication in transition: genomics hype, public engagement, education and commercialization pressures |
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| Hereditary lymphedema type I associated with <i>VEGFR3</i> mutation: the first <i>de novo</i> case and atypical presentations |
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| Heterozygosity for a Mendelian disorder as a risk factor for complex disease |
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| Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients |
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| Molecular background of polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome in a Polish population: novel <i>AIRE</i> mutations and an estimate of disease prevalence |
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|
✓ |
✓ |
Polish population; in Poland; background population |
| Germline mosaicism for a <i>MECP2</i> mutation in a man with two Rett daughters |
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| A novel mutation in <i>BAP/SIL1</i> gene causes Marinesco–Sjögren syndrome in an extended pedigree |
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| The genetics of hydatidiform moles: new lights on an ancient disease |
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| Maturity of judgement in decision making for predictive testing for nontreatable adult‐onset neurogenetic conditions: a case against predictive testing of minors |
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| Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers |
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| Predictive testing for Huntington disease: interpretation and significance of intermediate alleles |
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| Application of <i>BRCA1</i> and <i>BRCA2</i> mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent |
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|
✓ |
✓ |
French Canadian descent |
| A frameshift mutation in peroxisome‐proliferator‐activated receptor‐γ in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367) |
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| Ironing out neurodegeneration: mutations in a phospholipase A<sub>2</sub> cause neurodegenerative diseases with iron accumulation |
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| Variability and inequity in testing of somatic tissue for hereditary cancer: a survey of UK clinical practice |
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| Characterizing genetic wrinkles in sperm of advanced paternal age |
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| Genes for Joubert syndrome: <i>CEP290</i> is in the middle of it |
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| Stem cell research: cloning, therapy and scientific fraud |
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| Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization |
|
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|
|
✓ |
✓ |
Italian |
| Commentary – Genetic diversity and science communication – some issues of ‘translation’ and language |
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| The laminopathies: a clinical review |
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| Origin of the <i>SCA7</i> gene mutation in South Africa: implications for molecular diagnostics |
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| Assessing risk assessment: genetic testing and screening for complex disease |
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| The challenges of translating genomic knowledge |
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| Developmental programming of hypothalamic feeding circuits |
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| Risk‐reducing surgery, screening and chemoprevention practices of <i>BRCA1</i> and <i>BRCA2</i> mutation carriers: a prospective cohort study |
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| Note |
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| Freeman–Sheldon syndrome and Sheldon–Hall syndrome: contracting new genotypes |
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| When bone becomes your enemy: fibrodysplasia ossificans progressiva |
|
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|
| E‐cadherin promoter polymorphism (C‐160A) and risk of recurrence in patients with superficial bladder cancer |
|
✓ |
|
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|
|
| <i>CYLD</i> mutations underlie Brooke–Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes |
|
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|
|
| Mutation analysis of the <i>PMP22</i>, <i>MPZ</i>, <i>EGR2</i>, <i>LITAF</i>, and <i>GJB1</i> genes in Korean patients with Charcot‐Marie‐Tooth neuropathy type 1 |
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|
| Genetic and other diseases in the pottery of Tumaco‐La Tolita culture in Colombia–Ecuador |
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| Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome |
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|
|
| Hemochromatosis gene mutations in patients with alcoholic cirrhosis |
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| Caps off: Dkc1 makes the IRESes bloom! |
|
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| Mosaic maternal uniparental isodisomy for chromosome 7q21‐qter |
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|
| Applications and limitations of empiric data in provision of recurrence risks for schizophrenia: a practical review for healthcare professionals providing clinical psychiatric genetics consultations |
|
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|
|
| Large genomic alterations in <i>hMSH2</i> and <i>hMLH1</i> in early‐onset colorectal cancer: identification of a large complex <i>de novo hMLH1</i> alteration |
|
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|
| Cryptic mosaicism for monosomy 20 identified in renal tract cells |
|
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|
| A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2‐q26.31 |
|
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|
| Neuropsychiatric findings of Möbius sequence – a review |
|
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|
|
| Microsatelite GT polymorphism in the toll‐like receptor 2 is associated with colorectal cancer |
|
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|
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|
|
✓ |
✓ |
Croatians |
| The genotype–phenotype correlation of hereditary multiple exostoses |
|
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|
|
| Phenotypic variability in isodicentric Y patients: study of nine cases |
|
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|
|
| Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings |
|
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|
|
| The C‐480T hepatic lipase polymorphism is associated with HDL‐C but not with risk of coronary heart disease |
|
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|
|
| Identification of novel mutations in the RSK2 gene (<i>RPS6KA3</i>) in patients with Coffin–Lowry syndrome |
|
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|
|
| A role for genetics in the outcome of antidepressant treatment for major depressive disorder |
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|
| Human embryo and early fetus research |
|
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|
|
| Osteogenesis imperfecta: clinical, biochemical and molecular findings |
|
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|
|
| Screening for<i> MECP2 </i>mutations in Spanish patients with an unexplained mental retardation |
|
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|
|
| Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation |
|
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|
|
| Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro |
|
✓ |
|
|
|
|
✓ |
✓ |
Serbia and Montenegro; Balkan Peninsula |
| Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro |
|
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|
|
| Farnesyl transferase inhibitors: the ‘fountain of youth’ for progeria syndromes |
|
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|
|
| A GLUT of sugar leads to a tortuous future |
|
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| A cryptic full mutation in a male with a classical Fragile X phenotype |
|
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|
|
| Genetic association between endothelial nitric oxide synthase and Alzheimer disease |
|
✓ |
|
|
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|
|
| Neurofibromin: a general outlook |
|
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|
|
| Mutations in PHD‐like domain of the <i>ATRX</i> gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome |
|
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|
|
|
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|
|
| A novel nonsense mutation in the <i>EYA1</i> gene associated with branchio‐oto‐renal/branchiootic syndrome in an Afrikaner kindred |
|
|
|
|
|
|
✓ |
✓ |
Afrikaner descent |
| Note |
|
|
|
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|
|
| Announcement |
|
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|
|
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|
|
| Gonadal mosaicism in hereditary angioedema |
|
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|
|
|
|
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|
|
| Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent |
|
|
|
|
|
|
✓ |
|
Indian descent |
| Maternal origin of a novel C‐terminal truncation mutation in <i>CDKL5</i> causing a severe atypical form of Rett syndrome |
|
|
|
|
|
|
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|
|
| Frequency and nature of <i>hMSH6</i> germline mutations in Polish patients with colorectal, endometrial and ovarian cancers |
|
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|
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|
|
| Detection of a novel Alu‐mediated <i>BRCA1</i> exon 13 duplication in Chinese breast cancer patients and implications for genetic testing |
|
|
|
|
|
|
✓ |
|
Chinese |
| Is loss of function of <i>PCSK9</i> a key in the protection against atherosclerotic cardiovascular disease? |
|
|
|
|
|
|
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|
|
| Still more from FGFR: LADD syndrome caused by different mutations in FGFR and their ligands |
|
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|
|
| Is there an influence of X‐chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases |
|
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|
|
| Cerebrospinal fluid levels of orexin‐A are not a clinically useful biomarker for Huntington disease |
|
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|
|
| Pharmacogenetics of antidepressants: serotonin 2A receptor genotype strongly associated with treatment outcome |
|
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|
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|
|
| Subject index |
|
|
|
|
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|
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|
|
| First evidence for a molecular link between Usher 1 and Usher 2 syndromes |
|
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|
|
| Author index |
|
|
|
|
|
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|
|
| Factors in decision making following genetic counseling for pre‐natal diagnosis of <i>de novo</i> chromosomal rearrangements |
|
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|
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|
|
| Splicing generates a polycystin‐2 variant with inverted topology |
|
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|
|
| Digitisation of <i>Clinical Genetics</i> |
|
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|
|
| Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 −455T>C polymorphisms on the susceptibility to diabetic nephropathy |
|
|
|
|
|
|
|
|
|
| Clinical and genetic variability of oculodentodigital dysplasia |
|
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|
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|
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|
|
| Genetic knowledge among participants of a German pilot study on hemochromatosis screening |
|
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|
|
| Insights into a new gene involved in cobalamin metabolism |
|
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|
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|
|
| A novel mutation in the <i>EIF2AK3</i> gene with variable expressivity in two patients with Wolcott–Rallison syndrome |
|
|
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|
|
|
|
|
|
| Craniofacial malformations: intrinsic <i>vs</i> extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes |
|
|
|
|
|
|
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|
|
| Developmental malformations of the eye: the role of <i>PAX6</i>, <i>SOX2</i> and <i>OTX2</i> |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2‐q12 |
|
|
|
|
|
|
✓ |
✓ |
Pakistani |
| Multiple primary malignancies in a patient with situs ambiguus |
|
|
|
|
|
|
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|
|
| High‐efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi‐CE‐SSCP) mutation screening of <i>SCN5A</i>: a rapid genetic approach to cardiac arrhythmia |
|
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|
|
| The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition |
|
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|
|
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|
|
|
| Novel germline mutations in the <i>APC</i> gene of Cypriot patients with familial and sporadic adenomatous polyposis |
|
|
|
|
|
|
✓ |
✓ |
Cypriot population; ethnic molecular study; unique genetic pool in the Cypriot population; Cypriot |
| Letter to the Editor in response to Duncan RE and Delatycki MB. Predictive genetic testing in young people for adult‐onset conditions: Where is the empirical evidence?′ |
|
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|
|
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|
|
| Response to Semaka |
|
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|
|
| Non‐syndromic, autosomal‐recessive deafness |
|
|
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|
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|
|
| Response to Fiona Richards' ‘Letter to the Editor’ |
|
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|
|
| Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families |
|
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|
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|
|
| Crigler–Najjar type II syndrome may result from several types and combinations of mutations in the <i>UGT1A1</i> gene |
|
|
|
|
|
|
|
|
|
| Maternal <i>MTR</i> genotype contributes to the risk of non‐syndromic cleft lip and palate in the Polish population |
|
|
|
|
|
|
✓ |
✓ |
Polish population |
| Genetic architecture of the <i>F7</i> gene in a Spanish population: implication for mapping complex diseases and for functional assays |
|
|
|
|
|
|
|
|
|
| Views of female breast cancer patients who donated biologic samples regarding storage and use of samples for genetic research |
|
|
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|
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|
|
| The mapping of <i>DFNB62,</i> a new locus for autosomal recessive non‐syndromic hearing impairment, to chromosome 12p13.2‐p11.23 |
|
|
|
|
|
|
✓ |
✓ |
Pakistani |
| Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia |
|
|
|
|
|
|
|
|
|
| Genotype‐phenotype correlation of R870H mutation in hypertrophic cardiomyopathy |
|
|
|
|
|
|
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|
|
| Hemizygosity for chromosome 2q14.2‐q22.1 spanning the <i>GLI2</i> and <i>PROC</i> genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities |
|
|
|
|
|
|
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|
|
| High prevalence of the IVS 1 + 1 G to A/<i>GJB2</i> mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of <i>GJB2</i> |
|
|
|
|
|
✓ |
✓ |
✓ |
Central European or Slavic populations; Czech; Spain and France; Slavic |
| Expanding the phenotypic spectrum of L1CAM‐associated disease |
|
|
|
|
|
|
|
|
|
| Screening of the <i>CAPN3</i> gene in patients with possible LGMD2A |
|
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| Inflammatory bowel disease and innate immune response genes: the challenge of complex polygenic disorders for the clinical geneticist |
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| Successful umbilical cord blood stem cell transplantation in a patient with Rothmund–Thomson syndrome and combined immunodeficiency |
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| Late‐onset treatment in Menkes disease: is there a correlation between genotype and response to therapy? |
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| LADD syndrome is caused by<i>FGF10</i>mutations |
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| Identification of a submicroscopic deletion of <i>SHH</i> associated with the holoprosencephaly spectrum by array‐based CGH |
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| Psychological aspects of pre‐symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I |
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| Erratum |
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| A successful approach for the detection of Fabry patients in Argentina |
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| Methylenetetrahydrofolate reductase gene and susceptibility to breast cancer: a meta‐analysis |
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East Asians |
| The incidence patterns of Down syndrome in Qatar |
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| Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the <i>MECP2</i> gene |
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| Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease |
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| Paraoxonase‐1 Q192R polymorphism and risk of sporadic amyotrophic lateral sclerosis |
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| Gene discovery in methylmalonic aciduria and homocystinuria |
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| New developmental insights from high‐throughput biological analysis in <i>Caenorhabditis elegans</i> |
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| Loss of function mutations in <i>SIL1</i> cause Marinesco–Sjögren syndrome |
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| The beat goes on: ciliary proteins are defective in Meckel syndrome. |
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| Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice |
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| Pregnancy‐associated plasma protein A, free human chorionic gonadotrophin and nuchal translucency as predictors of miscarriage |
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| Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia |
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| HMLH1 and HMSH2 germline mutations in Greek families with hereditary non‐polyposis colorectal cancer |
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| Comparative transcriptome maps: a new approach to the diagnosis of colorectal carcinoma patients using cDNA microarrays |
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| Transglutaminase 5 mutations result in Acral Peeling Skin Syndrome. |
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| The first characterization of homozygous HOX gene mutation in humans |
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| A break near SLITRK1: A breakthrough in Tourette syndrome |
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| A novel homozygous <i>MMP2</i> mutation in a family with Winchester syndrome |
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| Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation |
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| MLPA <i>vs</i> multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation |
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| Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype |
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| A genetic model for determining <i>MSH2</i> and <i>MLH1</i> carrier probabilities based on family history and tumor microsatellite instability |
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| Clinical and molecular characterization of a new syndrome: the case of 3q29 microdeletion syndrome |
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| Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families |
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Danish |
| Corrigendum |
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| Announcement |
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| Jewels in the rough – the study of non‐coding genomic sequences as a conduit to understanding human disease |
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| Molecular investigation and long‐term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the <i>ATP6V1B1</i> gene |
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Greek Cypriot; Turkish origin |
| <i>Trans</i>‐species aneuploidy model: the little mouse that could |
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| Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome |
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| A questionnaire study for 128 patients with Gaucher disease |
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| Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel <i>ENG</i> and 12 novel <i>ACVRL1/ALK1</i> mutations |
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German |
| Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria |
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| Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels |
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| Vesicoureteric reflux and renal malformations: a developmental problem |
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| Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity |
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| Quantification of all fetal nucleated cells in maternal blood in different cases of aneuploidies |
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| Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the <i>APC</i> gene |
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| Educational outcomes of a workplace screening program for genetic susceptibility to hemochromatosis |
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| 15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array‐CGH |
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