| Germinal mosaicism in Apert syndrome |
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| Osteoporosis‐pseudoglioma syndrome |
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| Genetic screening for artificial insemination by donor (AID) |
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| Fetal mortality in sibships of cases with neural tube defects |
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| Use of Y chromosome specific probes to detect low level sex chromosome mosaicism |
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| DNA probes for linkage analysis of X linked diseases: Localisation of the disease locus for anhidrotic ectodermal dysplasia |
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| Studies on fragile X‐mental retardation by the use of DNA probes |
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| Cystic fibrosis ‐ a search for the basic defect |
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| RFLP studies in families with Duchenne muscular dystrophy |
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| The most profoundly retarded children in the county of Aarhus II. Etiologic and pathogenetic aspects |
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| Chromosome abnormalities in mesenchymal neoplasms |
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| Genetic effects in offspring of cancer patients |
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| Restriction enzyme analysis of human HLA‐linked C4‐genes in the Finnish population |
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✓ |
|
Finnish population |
| High‐resolution banding: a study of 85 patients with mental retardation |
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| Xp21/autosome translocations |
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| Third International Conference on Chorionic Villus Sampling and Early Prenatal Diagnosis |
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| Number of “high genes” involved in determining the activity of paraoxonase |
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✓ |
✓ |
Danish family material |
| Structure, origin and effects of a supernumerary marker chromosome 15 |
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| Partial deletion of the short arm of chromosome 3: further delineation of the 3p25 ‐ 3pter syndrome |
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| Cerebroside‐β‐glucosidase activity in Gaucher brain |
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| Trisomy 4 due to nondisjunction during maternal meiosis II |
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| Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis |
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| Growth curves for height in Noonan syndrome |
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| Genetic modelling in schizophrenia according to HLA typing |
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| Discoid lupus erythematosus‐like skin lesions in a patient with autosomal recessive chronic granulomatous disease |
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| Skeletal maturation in the XY female syndrome |
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| The fetal pathology of the XXXXY‐syndrome |
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| Chromosomal mosaicism and maternal cell contamination in chorionic villi cultures |
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| Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1 |
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| Klinefelter's syndrome in Sardinia |
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✓ |
✓ |
Sardinian |
| Pyknoachondrogenesis: An association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition? |
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| In defence of partial trisomy |
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| Fragile X; experience of a laboratory |
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| Tapeto‐retinal degeneration in four Norwegian counties I |
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| Iris (Lisch) nodules in neurofibromatosis |
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| Inheritance of atrioventricular conduction time in Tokelau Islanders |
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✓ |
✓ |
Polynesians; Tokelau Islanders; racial groups |
| Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome |
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| Genetic control over fragile X chromosome expression |
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| α<sub>1</sub>‐antitiypsin deficiency and the flaccid lung syndrome |
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| Proximal duplications of chromosome 15: clinical dilemmas |
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| High resolution pattern of an inverted duplication (15) |
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| Osteoporosis‐pseudoglioma syndrome and the ocular form of osteogenesis imperfecta |
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| 27th Annual Short Course in Medical and Experimental Genetics |
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| Chorion in culture |
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| Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy |
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| Evidence for preferential involvement of chromosome bands 6p21 and 13q14 in amniotic fluid cell balanced translocation pseudomosaicism |
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| Long term survival of a patient with the cerebro‐hepato‐renal (Zellweger) syndrome |
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| Determination of the acetylator phenotype in a Turkish population |
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✓ |
|
Turkish population |
| ERRATUM |
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| The Borjeson‐Fbrssman‐Lehmann syndrome |
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| The McCune‐Albright syndrome: a lethal gene surviving by mosaicism |
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| Heterogeneity of Morquio disease |
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| Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20mosaicism |
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| Announcements |
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| Mental retardation in a North Swedish isolate |
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✓ |
✓ |
North Swedish |
| P<scp>etros</scp> T<scp>sipouras</scp><sup>4</sup> |
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| The problem of isolated cases of Huntington's disease in South Wales 1974–1984 |
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| The CHARGE syndrome |
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| Coexistent pseudohypoparathyroidism and D brachydactyly in a family |
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| Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity |
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| Use of a biotinylated DNA probe specific for the human Y chromosome for rapid antenatal sex determination |
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| Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency |
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| Unspecific reactions of HLA‐B antisera on fibroblasts from patients and carriers of Duchenne muscular dystrophy |
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| Prometaphase chromosome analysis as a routine diagnostic technique |
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| Accumulation and defective β‐oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants |
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| Cryptophthalmos ‐ syndactyly syndrome without cryptophthalmos |
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| Infantile type of sialic acid storage disease with sialuria |
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|
Austrian ancestry |
| Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis |
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|
| Arthrogryposis and <b>46,</b>XY, t(1;16) chromosome constitution |
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|
| Mapping status of cystic fibrosis |
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|
| A computerised register for Huntington's chorea in Denmark |
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|
| Single abnormal cells may be interpreted as pseudomosaicism or mosaicism |
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|
| Genetic counselling of Duchenne muscular dystrophy families based on analysis of flanking DNA markers |
|
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|
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|
|
| Reciprocal effects of apolipoprotein E alleles (ε2 AND ε4) on plasma lipid levels in normolipidemic subjects |
|
✓ |
|
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|
|
| The Grant Syndrome: Persistent Wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia ‐ an autosomal dominant trait |
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|
| A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently |
|
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|
| Partial deletion of the short arm of chromosome 3 |
|
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|
| On the origin of extra isochromosomes |
|
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|
|
| ERRATUM |
|
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|
|
| Adult polycystic liver and kidney diseases are separate entities |
|
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|
|
| Relative reliability of three different discriminant analysis methods for detecting PKU gene carriers |
|
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|
|
| Partial trisomy 3p syndrome |
|
|
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|
|
| Normal female carrier and affected male half‐sibs with t (X;5) (q13;p15) |
|
|
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|
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|
|
| Comments on methods and results in: Sherman et al., “Segregation analysis of balanced pericentric inversions in pedigree data” |
|
|
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|
|
|
|
|
|
| Heterochromatinization of human X‐ chromosomes: classification of replication profile |
|
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|
|
| Autosomal dominant lamellar ichthyosis |
|
|
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|
|
| Peculiar face, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation; a new autosomal recessive syndrome? |
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|
|
| International Conference on Reproduction and Human Cancer Bethesda, Maryland, May 11–13, 1987 |
|
|
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|
|
| Dermatoglyphics in Congenital Adrenal Hyperplasia (CAH) |
|
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|
|
| Pepsinogen A polymorphism in gastric mucosa and urine, with special reference to patients with gastric cancer |
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|
|
| A recent survey of consanguineous marriages in Japan |
|
|
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|
|
|
|
|
|
| High‐resolution cytogenetic studies in patients with Prader‐Willi syndrome |
|
|
|
|
|
|
|
|
|
| Analysis of fragile X‐mental retardation families using flanking polymorphic DNA probes |
|
|
|
|
|
|
✓ |
✓ |
Swedish families |
| Inbreeding and schizophrenia |
|
|
|
|
|
|
|
|
|
| Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations |
|
|
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|
|
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|
|
| A study into possible deviation from the Hardy‐Weinberg equilibrium by the alleles of the hypervariable sequence in the region of the human insulin gene |
|
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|
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|
|
| The arylsulphatases of chorionic villi: potential problems in the first‐trimester diagnosis of metachromatic leucodystrophy and Maroteaux‐Lamy disease |
|
|
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|
|
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|
|
| A genetic‐diagnostic survey in an institutionalized population of 173 severely mentally retarded patients |
|
|
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|
|
|
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|
|
| Tapeto‐retinal degeneration in four Norwegian counties II |
|
|
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|
|
|
|
|
| Calvarial hyperostosis: a benign X‐linked recessive disorder |
|
|
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|
|
|
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|
|
| Neuronal Ceroid Lipofuscinosis (NCL) or Batten Disease International Registry |
|
|
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|
|
|
|
|
|
| Number of loci responsible for the inheritance of high and low activity of paraoxonase |
|
|
|
|
|
|
|
|
Danish |
| Familial transmission of a non‐Robertsonian translocation dicentric |
|
|
|
|
|
|
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|
|
| Clinical and genetic studies of muscular dystrophy in young girls |
|
|
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|
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|
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|
|
| An infant with thanatophoric dwarfism surviving 169 days |
|
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|
|
| Isolated congenital bowed long bones |
|
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|
|
| Pierre Robin anomaly with an accessory metacarpal of the index fingers |
|
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|
|
| Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement |
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|
|
| Names in genetics: ban on partial trisomy, tetrasomy and monosomy |
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|
|
| Announcement |
|
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|
|
| Congenital heart disease in supernumerary der(22), t(11;22) syndrome |
|
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|
|
| Deleted ring chromosome 22 in a mentally retarded boy |
|
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|
|
| Absent tibiae, triphalangeal thumbs, Polydactyly and non‐penetrance |
|
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|
|
| Dominantly inherited craniodiaphyseal dysplasia: A new craniotubular dysplasia |
|
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|
|
| A postaxial Polydactyly and progressive myopia syndrome of autosomal dominant origin |
|
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|
|
| Triplication, Partial Tetrasomy or Tetramere? |
|
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|
|
| Concerning the article “Gonadoblastoma and Y chromosome fluorescence”. Clin. Genet. 29, 311–316 (1986) |
|
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|
|
| Ring 21 chromosome: the mild end of the phenotypic spectrum |
|
|
|
|
|
|
|
|
|
| Neurodevelopmental and psychological aspects in a child with 49XYYYY karyotype |
|
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|
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|
|
| An evaluation of maternal cell contamination in cultures of chorionic villi for the prenatal diagnosis of chromosome abnormalities |
|
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|
|
|
|
|
|
| DNA polymorphism at the apolipoprotein B locus is associated with lipoprotein level |
|
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|
|
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|
|
| Response to Stene's comments on the segregation of balanced pericentric inversions |
|
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|
|
| A simplified method for observing and recording dermatoglyphic patterns, including counting sweat pores |
|
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|
|
| Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22 |
|
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|
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|
|
| Linkage between the loci for cystic fibrosis and paraoxonase |
|
|
|
|
|
|
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|
|
| Whole‐arm t (X;17) (Xp17q;Xq17p) and gonadal dysgenesis |
|
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|
|
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|
|
| Tricho‐rhino‐phalangeal syndrome without exostoses, with an interstitial deletion of 8q23 |
|
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|
|
| De novo del(4) (p15.32) with incomplete expression of the Wolf‐Hirschhorn syndrome |
|
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|
|
| Heterozygote expression in Grebe Chondrodysplasia |
|
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|
| Typing of families with classical phenylketonuria using three alleles of the Hindlll linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe |
|
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|
|
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|
|
| First trimester chorionic villi sampling and direct chromosome preparations |
|
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|
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|
|
| Craniofrontonasal dysplasia: clinical and genetic analysis |
|
|
|
|
|
|
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|
|
| Usher syndrome in four Norwegian counties |
|
|
|
|
|
|
✓ |
✓ |
Norwegian ("four Norwegian counties") |
| High resolution chromosome results in retinoblastoma families |
|
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|
|
|
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|
|
| Increased levels of apo‐transcobalamins I and II in amniotic fluid from pregnant women with previous neural tube defect offspring |
|
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|
|
| The Johanson‐Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature |
|
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|
|
| Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly |
|
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|
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|
|
| Familial supernumerary non‐satellited microchromosome |
|
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|
|
| Frequency of rare fragile sites among mentally subnormal schoolchildren |
|
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|
|
|
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|
|
| First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid α‐glucosidase in chorionic villous biopsy using antibodies |
|
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|
|
| Effect of sibship position on reproductive behavior of couples after the birth of a genetically handicapped child |
|
|
|
✓ |
|
|
|
|
|
| The Cowden syndrome: a clinical and genetic study in 21 patients |
|
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|
|
| Copper‐measurement in a muscle‐biopsy. A possible method for postmortem diagnosis of Menkes disease |
|
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|
| On the nosology of the Cornelia de Lange and Coffin‐Siris syndromes |
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| Guidelines for the diagnosis of fragile X |
|
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|
| A simple technique for recording and counting sweat pores on the dermal ridges |
|
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|
|
| A de novo translocation in a family with a balanced reciprocal chromosomal translocation |
|
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|
|
| A family with congenital suprabulbar paresis (Worster‐Drought syndrome) |
|
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|
|
| X‐linked short stature with skin pigmentation: evidence for heterogeneity of the Russell‐Silver syndrome |
|
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|
|
| Osteoporosis‐pseudoglioma or osteogenesis imperfecta? |
|
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|
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|
|
| Psychosocial adjustment of adult women with Turner syndrome |
|
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|
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|
|
| The spectrum of clinical features in CHARGE syndrome |
|
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|
|
| Gonadoblastoma and Y‐chromosome fluorescence |
|
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|
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|
|
| Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the trichoodonto‐onychial subgroup |
|
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|
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|
|
| Spastic paresis, glaucoma and mental retardation ‐ a probable autosomal recessive syndrome? |
|
|
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|
|
| A racial difference in apolipoprotein E allele frequencies between the Japanese and Caucasian populations |
✓ |
✓ |
|
|
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|
|
|
|
| Ehlers‐Danlos features with progeroid facies and mild mental retardation |
|
|
|
|
|
|
|
|
|
| Weill‐Marchesani syndrome in mother and son |
|
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|
|
| Client reactions to genetic counseling: self‐reports of influence |
|
|
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|
|
|
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|
|
| Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation |
|
|
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|
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|
|
| Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16 |
|
|
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|
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|
|
| The effect of consanguineous marriages on reproductive wastage |
|
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|
|
| 235 cases of prenatal 1st trimester cytogenetic diagnosis based on transabdominal CVS |
|
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|
|
| Characterization of neoplasia‐associated chromosome abnormalities by Southern blot analysis |
|
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|
|
| The prognostic implication of cytogenetic findings in non‐Hodgkin lymphomas |
|
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|
|
| Early diagnosis of Mb. Recklinghausen |
|
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|
|
| Polymorphism of type I collagen genes in the Finnish population |
|
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|
|
| Mutagenic effect of amniotic fluid from smoking women at term |
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|
| Linkage studies in choroideremia |
|
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|
| Clinical use of DNA markers (RFLP) in genetic counselling and prenatal diagnosis of haemophilia A and B |
|
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|
|
| Cockayne syndrome, early‐onset type: clinical and cytogenetic findings |
|
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|
| The fragile X chromosome: prenatal diagnosis |
|
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|
| Effect of genetic factors on the variation in plasma concentration of antithrombin III: A twin study |
|
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|
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| DNA polymorphisms around the apo Al gene in normal and hyperlipidaemic individuals selected for a twin study |
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✓ |
✓ |
Norwegian population; UK individuals |
| Segregation analysis of brown oculocutaneous albinism |
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| Critical segment for 9p deletion syndrome |
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| 7th International Congress of Human Genetics – Satellite Workshop |
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| The Human Gene Map 15 April 1986: The Morbid Anatomy of the Human Genome |
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| Dermatoglyphic peculiarities in families with X‐linked mental retardation and fragile site Xq27: a collaborative study |
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| Autosomal whole arm translocations in man |
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| Paternal non‐disjunction in a 46, XY/ 47, XXY individual with a fragile 17p12 in the mother |
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| An unusual variant chromosome 9 due to disturbance of normal chromatin condensation at band p12? |
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| Prenatal diagnosis and pathoanatomy of iniencephaly |
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| Segregation analysis of balanced pericentric inversions in pedigree data |
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| A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection |
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| Deletion of chromosome 11 (p11p13) in a patient with Beckwith‐Wiedemann syndrome |
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| δ‐aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency |
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| St. Helena familial genu valgum |
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| An asymmetric type of chondrodysplasia in an adult male |
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| Oto‐Palato‐Digital syndrome in four generations of a larqe family |
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| Congenital cutis laxa |
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| Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination |
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| Announcements |
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| Minimal pigment: a new type of oculocutaneous albinism |
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| Detection and localization of an extra HLA locus in a karyotypically normal male by chromosomal in situ hybridization |
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✓ |
✓ |
Black |
| A variant of the “DIDMOAD” syndrome: (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) |
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| A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations |
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✓ |
✓ |
Arab family |
| Mosaicism for ring and isopseudodicentric chromosome 13 |
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| Genetics of Skin Diseases, ESDR‐Symposium Oslo |
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| Determination of cholinesterase and acetylcholinesterase in amniotic fluid |
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| Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis |
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| Homozygosity for a Y/22 chromosome translocation: t(Y;22) (q12;p12/13) |
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| DA/DAPI pattern of marker chromosome: cytogenetics of cat eye syndrome |
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| Population cytogenetics of autosomal fragile sites |
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| Cytogenetic analysis in 100 spontaneous abortions in North‐East Scotland |
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| Sanfilippo disease in Greece |
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✓ |
✓ |
Greek ethnic community of Turkey |
| Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality |
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| Cerebral gigantism with hydronephrosis: a case report |
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| Pericentric inversion 16 in man ‐ a second case |
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| Ocular osteogenesis imperfecta |
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| Cardiovascular manifestations in Fabry's disease |
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| Measurement of body fat in Turner syndrome |
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| Incidence of trisomy 18 in Sweden in 1981–1982: Clustering in a small region |
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| A new chromosome instability disorder |
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| Diagnostic applications of H‐Y serology: H‐Y negative phenotype in cells from 45, X/ 46, XY fetus with testes |
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| Full expression of Hunter's disease in a female with an X‐chromosome deletion leading to non‐random inactivation |
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| The acrocallosal syndrome in sisters |
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| Multiple sulphatase deficiency presenting at birth |
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| Exencephaly in human fetuses |
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| Osteogenesis imperfecta or Osteoporosis‐pseudoglioma syndrome |
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| Case report: partial trisomy 20q (20q13.13→qter) |
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| Cryptophthalmos‐syndactyly syndrome without cryptophthalmos |
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