| Announcements |
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| Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension |
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✓ |
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| Interstitial deletion of long arm of chromosome no. 5 with growth hormone deficiency‐an emerging syndrome? |
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| A Cys634Gly substitution of the <i>RET</i> proto‐oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis |
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| Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia |
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| A tetranucleotide repeat polymorphism within the human elastin gene (ELNi1) |
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| Condensed chromatin enhancement in the phytohemagglutinin‐stimulated lymphocyte interphase nuclei of two xeroderma pigmentosum patients and artificial chromatin condensation of healthy cell nuclei by |
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| Chromosome 21 and platelets: a gene dosage effect? |
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| Microcephaly and intracranial calcification: two new cases |
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| Delineation of a ring chromosome 16 by the FISH‐technique: a case report with review |
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| Announcements |
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| Analysis of the (CAG)n repeat causing Huntington's disease in a Mexican population |
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Mexican population |
| The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm |
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| A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia |
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| Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non‐Fanconi anemia): Hacettepe experience |
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| Pearson marrow pancreas syndrome: a molecular study and clinical management |
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| APO E Polymorphism in Spanish and Moroccan populations |
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Northern European populations; South‐European populations; Spanish and Moroccan populations; Basque individual |
| Brachydactyly in a child with duplication‐deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes? |
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| Malignant hyperthermia susceptibility, an autosomal dominant disorder? |
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Swedish |
| Association of the renin gene polymorphism with essential hypertension in a Chinese population |
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Chinese population |
| Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features‐a case of hereditary neuralgic amyotrophy |
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| Moving towards a syndrome: a review of 20 cases and a new case of non‐mosaic tetrasomy 9p with long‐term survival |
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| Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome |
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| Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality |
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| A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient |
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| A DNA polymorphism at the angiotensin II type 1 receptor (AT1R) locus and myocardial infarction |
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| Apolipoprotein E polymorphism in the Greek population |
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"Greek population"; "Chinese population" |
| Lipoprotein(a) in plasma, arterial wall, and thrombus from patients with aortic aneurysm |
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| Studies on effects of Lp(a) lipoprotein on gene expression in endothelial cells <i>in vitro</i> |
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| Analysis of the mechanism of lipoprotein(a) assembly |
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| The lysine‐binding function of Lp(a) |
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| LDL‐unbound apolipoprotein(a) and carotid atherosclerosis in hemodialysis patients |
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| Schizophrenia genetics at the millennium: cautious optimism |
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| “Reduction” of CGG trinucleotide expansion from mother to offspring in seven fragile‐X families |
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| Interaction of the cholesteryl ester transfer protein I405V polymorphism with alcohol consumption in smoking and non‐smoking healthy men, and the effect on plasma HDL cholesterol and apoAI concentrati |
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Icelandic |
| Association analysis of CA repeat polymorphism of the endothelial nitric oxide synthase gene with essential hypertension in Japanese |
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✓ |
✓ |
Japanese |
| Are common mutations of cystathionine β‐synthase involved in the aetiology of neural tube defects? |
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| Short Report on DNA Marker at Candidate Locus |
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| Mutation of <i>RET</i> codon 768 is associated with the FMTC phenotype |
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| Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH‐technique |
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| Congenital cutis laxa and lysyl oxidase deficiency |
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| Prenatal diagnosis of a <i>de novo</i> trisomy 6q22.2→6qter and monosomy lpter→1p36.3. Case report with a 2‐year follow‐up and a brief review of other prenatal cases of partial trisomy 6q |
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| A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings |
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| Möbius‐like syndrome associated with a 1;2 chromosome translocation |
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| Detection of <i>SRY</i> in 45, X/47, XYY mosaicism leading to phenotypic female |
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| Mspl identifies a biallelic polymorphism in the promoter region of the α<sub>2A</sub>‐adrenergic receptor gene |
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| A highly polymorphic (CA) repeat sequence in the human lysyl oxidase‐like gene |
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| Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation |
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Finnish population; non-Finnish cases |
| Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria |
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| Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion |
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| Reciprocal translocation 4; 11 with both adjacent‐1 segregants viable within a family |
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| Case Report: Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence <i>in situ</i> hybridization |
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| Vocal cord paralysis and cystic kidney disease in Hajdu‐Cheney syndrome |
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| Marinesco‐Sjögren syndrome associated with acute mveloblastic leukemia |
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| MN blood group affects response of serum LDL cholesterol level to a low fat diet |
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| The prevalence of Usher syndrome and other retinal dystrophy‐hearing impairment associations |
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| Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies |
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| Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome? |
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| A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin |
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| A polymorphism in intron 6 of the CYP17 gene |
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| Apolipoproteins B and E, and angiotensin I‐converting enzyme (ACE) genetic polymorphisms in Italian women with coronary artery disease (CAD) and their relationships with plasma lipid and apolipoprotei |
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Italian women; population of Rome; Central and Southern Italy |
| Association analysis of TG repeat polymorphism of the neuronal nitric oxide synthase gene with essential hypertension |
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Japanese subjects |
| A dinucleotide repeat and a Hae III polymorphism in the human nicotinic acetylcholine receptor alpha‐subunit gene (CHRNA1) |
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| A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy |
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| X‐linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies |
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| Factor V Leiden (R506Q) and risk of venous thromboembolism: a case‐control study based on the Spanish population |
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Spanish population; Spanish thrombophilic patients; populations worldwide |
| Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations |
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| Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports |
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Turkish; Turkey |
| Del (X)(p21.2) in a mother and two daughters with variable ovarian function |
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| Detection of 100% of the CFTR mutations in 63 CF families from Tyrol |
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Hutterite brethren; Tyrolian; Bavaria; Middle-and Northern Germany; Styria; Northern Italy; Southern |
| Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings |
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| Erratum |
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| Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation |
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Scandinavian |
| Genetic analysis of adult‐onset cataract in a city‐based ophthalmic hospital |
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| Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth‐retarded male: mos47,XXY/48,XXY, + r(X) |
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| Variant euchromatic band within 16q12.1 |
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| Lp(a) lipoprotein is a major risk factor for cardiovascular disease: pathogenic mechanisms and clinical significance |
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✓ |
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Black; Swedish |
| Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy |
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| The role of the apolipoprotein E polymorphism in the prediction of coronary artery disease age of onset |
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✓ |
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| Genetic variation of the angiotensin‐converting enzyme gene: increased frequency of the insertion allele in Koreans |
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✓ |
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Koreans; Samoan; Yanomami; 'ethnic' (as in 'ethnic importance') |
| An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins |
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Turkish |
| Two mosaic‐YY males carrying asymmetric Y chromosomes |
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| Paracentric inversion of chromosome 9 with schizoaffective disorder |
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| Congenital intractable diarrhea of infancy in Iraqi Jews |
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Iraqi Jewish origin; Jews of Iraqi origin; ethnic groups |
| Clinical variability of tetrasomy 12p |
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| SSCP variants within the α4 subunit of the neuronal nicotinic acetylcholine receptor gene |
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| Dandy‐Walker malformation and postaxial Polydactyly: nosological comments |
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| Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support |
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| Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team |
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| Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome |
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| A study of possible deleterious effects of consanguinity |
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| Identification of a point mutation (G727T) in the glucose‐6‐phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers |
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✓ |
✓ |
Japanese |
| Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome |
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| A novel point mutation (Pro84 ← Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia |
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✓ |
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Finns |
| Clinical manifestation of a severe neonatal progeroid syndrome |
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| <i>De novo</i> duplication of 12pter → p12.1: clinical and cytogenetic diagnosis confirmed by chromosome painting |
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| Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin‐like repeats of cartilage oligomeric matrix protein |
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| Case Report: Two newborns with chromosome 4 imbalances: deletion 4q33 → q35 and ring r (4) (pterq35.2‐qter) |
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| Ohdo syndrome: report on a Brazilian girl with additional findings |
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| Detection of an EcoRI restriction fragment length polymorphism in the gene encoding the human TBP associated factor II 30 (TAF<sub>II</sub>30) |
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| Linkage studies exclude the AT‐V gene(s) from the translocation breakpoints in an AT‐V patient |
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| Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height |
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| Female pseudohermaphroditism due to classical 21‐hydroxylase deficiency in a girl with Turner syndrome |
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| Two new polymorphisms in the BRCA 1 gene |
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| Extending the overlap of three congenital overgrowth syndromes |
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| Photoanthropometric study of craniofacial traits in individuals with Williams syndrome |
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✓ |
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| On the many faces of Leber hereditary optic neuropathy |
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| Codon 89 polymorphism of the human 5α‐steroid reductase type 2 gene |
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| Three cases of trisomy 13 mosaicism and a review of the literature |
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| Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome |
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| A case of Carpenter syndrome diagnosed in a 20‐week‐old fetus with postmortem examination |
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| A case of mosaic trisomy 2 diagnosed at amniocentesis in an abnormal fetus and confirmed in multiple fetal tissues |
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| Identification of the parental origin of polysomy in two 49,XXXXY cases |
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| A novel mutation M‐21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia |
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| Scintigraphic evaluation of Tc‐99m‐low‐density lipoprotein (LDL) distribution in patients with Gaucher disease |
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| Detection of dystrophin deletion carriers using FISH analysis |
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| Oto‐facio‐osseous‐gonadal syndrome: a new form of syndromic deafness? |
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| Ethics and Genetics: Advanced European Bioethics Course. Nijmegen (The Netherlands), November 20–22, 1997 |
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| Analyses of mutations in the human renal kallikrein (hKLKl) gene and their possible relevance to blood pressure regulation and risk of myocardial infarction |
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| Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities |
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| Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother |
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| Partial trisomy 6p from a <i>de novo</i> translocation (6; 18) with variable mosaicism in different tissues |
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| Consanguineous marriage and its clinical consequences in migrants to Australia |
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✓ |
✓ |
Eastern Mediterranean; Asia and Africa; migrants |
| Familial inv(X)(p22q22): ovarian dysgenesis in two sisters with del Xq and fertility in one male carrier |
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| Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q |
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| Applicability of a checklist for clinical screening of the fragile X syndrome |
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| <i>Pst</i>l‐polymorphism in the human bactericidal permeability increasing protein (BPI) gene |
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| Words of Thanks |
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| Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality |
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| Preface |
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| Lp(a) lipoprotein level predicts survival and major coronary events in the Scandinavian Simvastatin Survival Study |
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✓ |
✓ |
Scandinavian |
| High‐degree sequence conservation in LPA kringle IV‐type 2 exons and introns |
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| Reporter gene analysis of four DNasel hypersensitive sites in the plasminogen/apolipoprotein(a) intergenic region |
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| Metabolism of Lp(a): assembly and excretion |
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| Vascular accumulation of Lp(a): <i>in vivo</i> analysis of the role of lysine‐binding sites using recombinant adenovirus |
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| Lipoprotein(a): identification of subjects with a superbinding capacity for fibrinogen |
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| Apolipoprotein E type ε4 allele, heritability and age at onset in twins with Alzheimer disease and vascular dementia |
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| Spectrum of CFTR mutations in Argentine cystic fibrosis patients |
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✓ |
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South European population |
| Oculopharyngeal muscular dystrophy (OPMD)‐report and genetic studies of an Australian kindred |
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✓ |
✓ |
German descent; French Canadian population |
| <i>De novo</i> duplication of 7pter→p21.2 and deletion of 9pter→p23.5: clinical and cytogenetic diagnosis |
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| Chromosome deletion 17pl 1.2 (Smith‐Magenis syndrome) in seven new patients, four of whom had been referred for fragile‐X investigation |
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| Short Report on DNA Marker at Candidate Locus |
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| Short Report on DNA Marker at Candidate Locus |
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| A novel polymorphism (1121 C/T) in intron 3 of the human apolipoprotein A‐l gene |
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| Deletion polymorphism in the angiotensin‐converting enzyme gene is not associated with hypertension in a Gulf Arab population |
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| Short Communication: Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G ← T and the 711 + 1G ← T mutations |
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| The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene |
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| Case Report: Corroboration of the lower extremity counterpart of the Poland sequence |
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| Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood |
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| Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence <i>in situ</i> hybridization |
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| Terminal 2q deletion‐a recognizable syndrome |
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| High prevalence of a novel mutation in the exon 4 of the low‐density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium |
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| Two novel missense mutations in the ATP‐binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients |
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| Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome? |
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✓ |
✓ |
Bedouin kindred |
| CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians |
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✓ |
South African Indians; Indian families |
| Geographic distribution of French‐Canadian low‐density lipoprotein receptor gene mutations in the Province of Quebec |
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✓ |
French-Canadians |
| Incomplete penetrance and expressivity skewing in hereditary multiple exostoses |
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| A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis |
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| Benign familial microcytic thrombocytosis with autosomal dominant transmission |
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| Essential hyperhidrosis in Turner syndrome |
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| China's genetic services providers' attitudes towards several ethical issues: a cross‐cultural survey |
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| GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva |
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| Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient |
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| Developmental aspects in apple peel intestinal atresia — ocular anomalies — microcephaly syndrome |
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| Expand Long PCR for fragile X mutation detection |
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| Differences in the prevalence of a TaqI RFLP in the 3‘ flanking region of the α<sub>1</sub>‐proteinase inhibitor gene between asthmatic and non‐asthmatic black and white South Africans |
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✓ |
✓ |
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| Influence of APOH protein polymorphism on apoH levels in normal and diabetic subjects |
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| A case of <i>de novo</i> interstitial deletion of chromosome 5(q33q34) |
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| An additional case of craniodigital syndrome: variable expression of the Filippi syndrome? |
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| Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report |
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| Turner syndrome in a mother and daughter: r(X) and fertility |
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| A bi‐allelic tetranucleotide repeat in the promoter of the human inducible nitric oxide synthase gene |
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| Intragenic tetranucleotide repeat polymorphism at the human histidase (HAL) locus |
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| Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family |
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| Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay‐Marks syndrome |
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| A Pvull polymorphism detected by a cDNA clone of the gene encoding the human spasmolytic protein (SML1 gene), one of three members of the trefoil peptide gene family clustered on chromosome 21q22.3 |
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| Cardiovascular risk factors in people with different genotypes in the insertion/deletion (I/D) polymorphism at the locus for angiotensin I‐converting enzyme (ACE) |
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| Case Report: Partial trisomy of 15q due to inserted inverted duplication |
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| Review: Epidemiology of Lp(a) lipoprotein: its role in atherosclerotic/thrombotic disease |
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| Apolipoprotein(a) is a human vascular endothelial cell agonist: studies on the induction in endothelial cells of monocyte chemotactic factor activity |
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| Biogenesis of Lp(a) in transgenic mouse hepatocytes |
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| Plasma concentrations of Lp(a) lipoprotein and TGF‐β<sub>1</sub> are altered in preeclampsia |
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| High plasma levels of apo(a) fragments in Caucasians and African‐Americans with end‐stage renal disease: implications for plasma Lp(a) assay |
✓ |
✓ |
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| Standardization of Lp(a) measurements |
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| The genetics of alcoholism: 1997 |
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