| Fetal gene therapy – a focus on prevention versus convention. |
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| Molecular recipe for a human tumour |
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| HotSpots: Neurogenesis challenges age old dogma |
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| Epigenetic evidence: hypomethylation results in hypermutation |
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| Novel exon skipping mutation in the fibrillin‐1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome |
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| Interpupillary distance in a normal black population |
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✓ |
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| Autosomal dominant cataracts and Peters anomaly in a large Australian family |
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| Scalp‐ear‐nipple (Finlay–Marks) syndrome: a familial case with renal involvement |
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| Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist? |
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| Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G→A splice site mutation in the low‐density lipoprotein receptor gene |
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✓ |
✓ |
Danish |
| X‐inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation |
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| Intra‐amniotic viral gene transfer highlights the potential for <i>in utero</i> molecular therapies |
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| Centromere–telomere (12;8p) fusion, telomeric 12q translocation, and i(12p) trisomy 1 |
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| Preaxial polydactyly in an infant with Down’s syndrome |
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| Ionizing radiation‐induced signaling pathways in ataxia telangiectasia |
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| An unbalanced half‐cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with mental retardation: uses and limitations of fluorescence <i>in</i><i>situ</i> hybridization |
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| Allele distribution at the <i>FMR1</i> locus in the general Chinese population |
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| Psychological and social determinants of women's decisions to undergo genetic counseling and testing for breast cancer |
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| Association between <i>AGT</i> codon 235 polymorphism and variation in serum concentrations of creatinine and urea in Canadian Oji‐Cree |
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✓ |
✓ |
Canadian Oji‐Cree; aboriginal Canadians |
| Assessment of <i>RS1</i> in X‐linked juvenile retinoschisis and sporadic senile retinoschisis |
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| Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening |
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| Cohen syndrome: evaluation of its cardiac, endocrine and radiological features |
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Finnish descent |
| Distal arthrogryposis type IIB: probable autosomal recessive inheritance |
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| Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins |
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✓ |
✓ |
Dutch men and women |
| Noncoding germline mutations in <i>p16/CDKN2A</i> in melanoma‐prone families |
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| PIK3CA: determining its role in cellular proliferation and ovarian cancer |
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| Genetics of sexual orientation |
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| Polyvariant mutant CFTR genes in patients with chronic pancreatitis |
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✓ |
✓ |
Italian population |
| Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy |
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✓ |
✓ |
Greek children |
| Postaxial polydactyly and Dandy–Walker malformation. Further nosological comments |
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| Search for uniparental disomy 14 in balanced Robertsonian translocation carriers |
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| A <i>de novo</i> heterozygous deletion of 42 base‐pairs in the noggin gene of a <i>fibrodysplasia ossificans</i><i>progressiva</i> patient |
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| Multi‐organellar disorders of pigmentation: tied up in traffic |
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| Transcription factors in dysmorphology |
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| Effect of vitamin E on chromosomal aberrations in lymphocytes from patients with Down’s syndrome |
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| Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (<i>LDLR</i>) and their use in a clinical genetic diagnostic setting |
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| <i>Fok</i>I polymorphism at the human vitamin D receptor gene locus in Europeans and Africans |
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✓ |
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✓ |
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Europeans and Africans; Europeans and Africans |
| Triple aneuploidy in spontaneous abortions |
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| Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis |
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| A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis |
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| Correspondence |
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| Internet resources for the clinical geneticist |
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| FISH analysis of terminal deletions in patients diagnosed with cri‐du‐chat syndrome |
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| Interleukin‐4 receptor variant Q576R: ethnic differences and association with atopy |
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| The assent of a nation: genethics and Iceland |
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| Renal‐coloboma syndrome: a multi‐system developmental disorder caused by <i>PAX2</i> mutations |
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| Molecular mechanisms controlling lung morphogenesis |
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| Utility of the predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men aged 65 to 84 years is dependent on context defined by <i>Apo E</i> genotype and area of re |
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✓ |
✓ |
Finnish men; cohorts in Eastern and Southwestern Finland (regional population descriptors) |
| The long and the short of it: developmental genetics of the skeletal dysplasias |
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| Alternative splicing of exon 37 of <i>FBN1</i> deletes part of an ‘eight‐cysteine’ domain resulting in the Marfan syndrome |
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| Ataxia‐telangiectasia, cancer and the pathobiology of the <i>ATM</i> gene |
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| Partial trisomy 17p detected by spectral karyotyping |
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| Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin |
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✓ |
|
Iberian origin |
| Short rib‐polydactyly syndrome: more evidence of a continuous spectrum |
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| Serum total IgE levels and <i>CD14</i> on chromosome 5q31 |
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| Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities |
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| Genetic and environmental sources of QT interval variability in Israeli families: the kibbutz settlements family study |
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| The tools of gene therapy can create new insights in developmental biology |
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| Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence‐specific internal DNA standard |
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| Recombinant proteins for genetic disease |
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| Schizophrenia susceptibility gene locus at Xp22.3 |
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✓ |
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| Vaginal uterine agenesis associated with amastia in a phenotypic female with a <i>de novo</i> 46,XX,t(8;13)(q22.1;q32.1) translocation |
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| <i>STK11</i>/<i>LKB1</i> germline mutations are not identified in most Peutz–Jeghers syndrome patients |
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| Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients |
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| Adult‐onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the <i>MYH7</i> gene |
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| The ups and downs of parting COMPany Poly‐aspartic acid tract instability: a novel expansion–contraction mutation |
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| Role of the Pro23Leu mutation in a family affected by retinitis pigmentosa in the Basque Country |
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| Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene |
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| Confirmation of linkage in X‐linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3‐Xp22.1 |
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| Founder <i>BRCA1</i> and <i>BRCA2</i> mutations in French Canadian ovarian cancer cases unselected for family history |
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✓ |
✓ |
French ancestry; French Canadian; French |
| Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion |
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| Germline mosaicism in X‐linked myotubular myopathy |
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| Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? |
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| Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene |
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| Genetic and segregation analysis of congenital cataract in the Indian population |
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| Cerebrotendinous xanthomatosis without xanthomas |
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| An extra idic(21)(q22.1) in a child with some features of Down’s syndrome |
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| Procedure to protect confidentiality of familial data in community genetics and genomic research |
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| Partial DiGeorge syndrome in two patients with a 10p rearrangement |
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| Mucopolysaccharidosis type I: Characterization of novel mutations affecting α‐ <scp>l</scp>‐iduronidase activity |
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| Genetic counselling in multiple sclerosis: risks to sibs and children of affected individuals |
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| Kabuki syndrome: description of dental findings in 8 patients |
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✓ |
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✓ |
✓ |
mixed Aboriginal and Caucasian descent |
| Transcervical cells and the prenatal diagnosis of haemoglobin (Hb) mutations |
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| Cloned mice raise possibility of human cloning |
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| A second gene for myotonic dystrophy |
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| Lower extremity counterpart of the Poland syndrome |
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| <i>TGFA</i>: exon–intron structure and evaluation as a candidate gene for Alström syndrome |
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| Mutation in the factor V gene associated with inferior vena cava thrombosis in newborns |
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| Genetic investigation of patients with hypercholesterolemia type IIa |
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| Fetal gene therapy confers stable gene expression, germline and widespread somatic cell transfection |
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| Genetic landmarks through philately – porphyria and its effect on world history |
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| Mutations associated with very late‐onset metachromatic leukodystrophy |
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| Correspondence |
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| Mutations in the <i>endothelin‐receptor B</i> gene in Hirschsprung disease in Sweden |
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| Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity |
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| HotSpots |
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| Multi‐organellar disorders of pigmentation: tied up in traffic |
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| FISH and PCR analysis of the presence of Y‐chromosome sequences in a patient with Xq‐isochromosome and testicular tissue |
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| Infantile sialic acid storage disease: report of the first case in South America |
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| HotSpots: The <i>Fat</i> gene |
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| HotSpots: Catch 22 |
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| 40 years of the annual ‘Bar Harbor Course’ (1960–1999): a pictorial history |
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| Genetic landmarks through philately – hereditary breast cancer 1 |
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| Further evidence from two families that craniofrontonasal dysplasia maps to Xp22 |
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| HotSpots |
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| High frequency of tissue‐specific mosaicism in Turner syndrome patients |
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| A locus for autosomal recessive achromatopsia on human chromosome 8q |
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|
|
Irish ancestry |
| HotSpots ‐ Insufficient death: autoimmune lymphoproliferative syndrome |
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| HotSpots ‐ Cutting it close: new insights into presenilin‐1 function |
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| Timing is everything: especially with loss of tumor suppressor genes |
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| Detection of a novel germline mutation in the von Hippel–Lindau tumour‐suppressor gene by fluorescence‐labelled base excision sequence scanning (F‐BESS) |
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| Long‐term survival and normal cognitive development in infantile phosphofructokinase‐1 deficiency |
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| Interstitial 4p deletion in a child with an Angelman syndrome‐like phenotype |
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| A SHOXing new kind of inheritance |
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| Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family |
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| Mexican geneticists’ views of ethical issues in genetics testing and screening. Are eugenic principles involved? |
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|
✓ |
✓ |
Mexican; Chinese |
| A half cryptic derivative der(18)t(5;18)pat identified by M‐FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements |
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| Hopes pinned on microarray technology to defeat TB |
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| Antibody therapy for Alzheimer's disease |
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| Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22) |
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| Unmasking mutations: functional genetic testing |
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| Relation of mathematical ability to psychosis in Iceland |
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| Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM |
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| Prenatal diagnosis of peroxisome biogenesis disorders by means of immunofluorescence staining of cultured chorionic villous cells |
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| To be or not to be an aggregate |
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| Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent |
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|
✓ |
✓ |
Chinese; Asian population |
| Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals |
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|
✓ |
✓ |
Italian; African–Americans; Italian population |
| Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate‐deficient glycoprotein syndrome type 1 |
|
✓ |
|
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|
✓ |
✓ |
Japanese |
| Impact of ApoE4 allele on total cholesterol levels of children in northern Spain |
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| SMN: understanding a complex protein complex and its role in disease |
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| Muddy waters: looking beyond the disease‐causing mutation, DNA mutations at second sites influence phenotype |
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| High frequency of <i>de novo</i> deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling |
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| Chromosome 11q13 and atopic asthma |
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| Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency |
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| A <i>de novo</i> complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly |
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| Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study |
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| Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden |
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| Human renin gene <i>Bgl</i>I dimorphism associated with hypertension in two independent populations |
|
✓ |
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|
✓ |
✓ |
a genetically homogeneous ethnic population |
| Perceptions of the outcome of orthopedic surgery in patients with chondrodysplasias |
|
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|
|
| Prevalence of human leukocyte antigen DQA1 and DQB1 alleles in Kuwaiti Arab children with type 1 diabetes mellitus |
|
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|
|
✓ |
✓ |
Kuwaiti Arab; 'similar ethnic background'; 'Kuwaiti general population' |
| Neural stem cells – a versatile tool for cell replacement and gene therapy in the central nervous system |
|
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| Beginning of a molecular era in hearing and deafness |
|
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| A brief review of cryptic duplications of 21q as an emerging cause of Down syndrome: practical considerations for accurate detection |
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| A microdeletion syndrome due to a 3‐Mb deletion on 19q13.2 – Diamond–Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation |
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| Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain |
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| HotSpots ‐ An unusual ataxia |
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|
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| Correspondence |
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| Molecular mechanisms controlling lung morphogenesis |
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| Pattern of central nervous system anomalies in a population with a high rate of consanguineous marriages |
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| Family physicians’ perspectives on genetics and the human genome project |
|
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|
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| FISH analysis with locus‐specific probes in sperm from two translocation carrier men |
|
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| Kenny–Caffey syndrome: an Arab variant? |
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| Beginning of a molecular era in hearing and deafness |
|
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| Additive effect of three noradrenergic genes (<i>ADRA2A</i>, <i>ADRA2C</i>, <i>DBH</i>) on attention‐deficit hyperactivity disorder and learning disabilities in Tourette syndrome subjects |
|
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| Biology of presenilins as causative molecules for Alzheimer disease |
|
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|
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| A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study |
|
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| Epidemiology of dystrophinopathies in North‐West Tuscany: a molecular genetics‐based revisitation |
|
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| Homozygosity for a novel DTDST mutation in a child with a ‘broad bone‐platyspondylic’ variant of diastrophic dysplasia |
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| Infantile spasms in a patient with partial duplication of chromosome 2p |
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| High frequency of type 1 GM1 gangliosidosis in southern Brazil |
|
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| Association of pre‐eclampsia with common coding sequence variations in the lipoprotein lipase gene |
|
✓ |
|
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|
| Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women |
|
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| ‘New’ manifestations of BOR syndrome |
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| The malformed kidney: disruption of glomerular and tubular development |
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| Association between polymorphism of the cholecystokinin gene and idiopathic Parkinson's disease |
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| Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments |
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| Deletion of chromosome 4p detected by FISH in a girl with normal high resolution karyotype |
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| Obituary |
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| HotSpots |
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| Genetic landmarks through philately – a brief history of diabetes mellitus |
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| A proven case of materno‐foetal transfusion determined by cytogenetic and DNA analysis |
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| Ethics and genetics: Advanced European bioethics course |
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| Possible interaction of genotypes at cystathionine β‐synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects |
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| Definition of the smallest pathological CAG expansion in <i>SCA7</i> |
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| Growing up without sulfate |
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| Neural stem cells – a versatile tool for cell replacement and gene therapy in the central nervous system |
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| Genetic landmarks through philately – hemophilia |
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| Diversity in expression of glucose‐6‐phosphate dehydrogenase deficiency in females |
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✓ |
✓ |
Mediterranean; African |
| Tricho‐dento‐osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions |
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| Glaucoma genetics, present and future |
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| Clinical characteristics of Angelman syndrome patients with a non‐IC‐deleted imprinting mutation |
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| Tetrasomy 21pter‐q22.11: molecular, cytogenetic, and clinical findings |
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| Characterisation, phenotypic manifestations and X‐inactivation pattern in 14 patients with X‐autosome translocations |
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| The vitamin D receptor <i>Fok</i>I start codon polymorphism and bone mineral density in osteoporotic postmenopausal French women |
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✓ |
✓ |
French women |
| Clinical teratology: identifying teratogenic risks in humans |
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| Tissue‐specific methylation differences in a fragile X premutation carrier |
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| Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene |
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| Genetic landmarks through philately – Kabuki theater and Kabuki syndrome |
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| Inheritance of two different alleles of the low‐density lipoprotein (LDL)‐receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia |
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✓ |
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Uses 'Asian', 'English origin', 'ethnic origin', 'out-bred populations', 'UK'. |
| Genetic landmarks through philately – Henry Louis ‘Lou’ Gehrig and amyotrophic lateral sclerosis |
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| Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome |
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| Linkage disequilibrium mapping of the Nova Scotia variant of Niemann–Pick disease |
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Acadians; Atlantic Canada; settlers; founder effect; relatively isolated areas |
| Pure trisomy 10p involving an isochromosome 10p |
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| Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction |
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| Ebstein's anomaly associated with trisomy 9p |
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| Professor Sarah Bundey 1936–1998 |
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| An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F) |
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| High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness |
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✓ |
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Greek population |
| Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia |
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| Genetic aspects of population policy |
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| Title |
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| British Human Genetics Conference |
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| A Thank you to Reviewers |
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| Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry |
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✓ |
✓ |
✓ |
originating from European, Indian and Jewish populations; Caucasoid admixture |
| How do carriers of hemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling? |
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