| Corneal clouding in the genetic mucopolysaccharidoses: A cell culture study |
|
|
|
|
|
|
|
|
|
| Blue sclerae and keratoconus: Key features of a distinct heritable disorder of connective tissue |
|
|
|
|
|
|
|
|
|
| Cytogenetic studies on cultured fibroblast‐like cells derived from basal cell carcinoma tissue |
|
|
|
|
|
|
|
|
|
| Ring chromosome 13 and haptoglobin heterozygosity |
|
|
|
|
|
|
|
|
|
| An atypical case of Cockayne's syndrome |
|
|
|
|
|
|
|
|
|
| Prenatal prediction in myotonic dystrophy: Guidelines for genetic counseling |
|
|
|
|
|
|
|
|
|
| A problem in diagnosis of primary versus secondary microcephaly |
|
|
|
|
|
|
|
|
|
| Identification of a C6/G21 translocation chromosome by the Q‐M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus |
|
|
|
|
|
|
|
|
|
| Turner‐phenotype in males |
|
|
|
|
|
|
|
|
|
| Idiopathic unilateral hyperlucent lung in one monozygotic twin |
|
|
|
|
|
|
|
|
|
| An adult male with XYYY sex chromosomes |
|
|
|
|
|
|
|
|
|
| Platelet diphenoloxidases in Progressive Muscular Dystrophy (P.M.D.) |
|
|
|
|
|
|
|
|
|
| The effect of the mouse X‐linked Testicular feminization mutation on the hypothalamus‐pituitary axis. |
|
|
|
|
|
|
|
|
|
| Frequency of homocystinuria amongst the blind |
|
|
|
|
|
|
✓ |
✓ |
Mexican; Mexico City |
| Double heteroploidy, 46, XY, t(13q14q), +18, in a spontaneous abortus |
|
|
|
|
|
|
|
|
|
| Increased “reproductive casualty” in heterozygotes for phenylketonuria |
|
|
|
|
|
|
|
|
|
| Bilateral aniridia, multiple webs and severe mental retardation in a 47, XXY/48, XXXY mosaic |
|
|
|
|
|
|
|
|
|
| Mixed testicular dysgenesis and 46, XY/47, XXY mosaicism |
|
|
|
|
|
|
|
|
|
| Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers |
|
|
|
|
|
|
|
|
|
| Dermatoglyphic studies of the 47, XYY male |
|
|
|
|
|
|
|
|
|
| A case of 46, XY, t(3q‐;14q+)mat |
|
|
|
|
|
|
|
|
|
| Banding of human chromosomes treated with papain |
|
|
|
|
|
|
|
|
|
| Congenital erythropoietic porphyria:A family study |
|
|
|
|
|
|
|
|
|
| Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy |
|
|
|
|
|
|
|
|
|
| The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue |
|
|
|
|
|
|
|
|
|
| Autosomal monosomy (45, XX, C—) in a humanembryo with total amelia and further malformations |
|
|
|
|
|
|
|
|
|
| Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardation |
|
|
|
|
|
|
|
|
|
| Triploidy 69, XXX in a stillborn girl |
|
|
|
|
|
|
|
|
|
| Male and female differentiation of the human gonad |
|
|
|
|
|
|
|
|
|
| Phenotypic variation in the popliteal pterygium syndrome |
|
|
|
|
|
|
|
|
|
| Hereditary angioedema: Report of a large kindred with a rare genetic variant of C1‐esterase inhibitor |
|
|
|
|
|
|
|
|
|
| Antenatal diagnosis of argininosuccinic aciduria |
|
|
|
|
|
|
|
|
|
| Partial trisomy 21 |
|
|
|
|
|
|
|
|
|
| Fluorescent bodies in amniotic fluid cells |
|
|
|
|
|
|
|
|
|
| Metachromatic leukodystrophy: |
|
|
|
|
|
|
|
|
|
| Mass screening newborns for mucopolysaccharidoses |
|
|
|
|
|
|
|
|
|
| Concurrence of myotonic dystrophy and XXY Klinefelter syndrome |
|
✓ |
|
|
|
|
|
|
|
| Retinal aplasia in association with macular coloboma, keratoconus and cataract |
|
|
|
|
|
|
|
|
|
| Familial infantile renal tubular acidosis and congenital nerve deaf ness: An autosomal recessive syndrome |
|
|
|
|
|
|
|
|
|
| Catechol‐O‐methyltransferase activity in erythrocytes in Down's syndrome |
|
|
|
|
|
|
|
|
|
| Demonstration of hyper‐α‐lipoproteinemia in three diabetic patients |
|
|
|
|
|
|
|
|
|
| Determination of Tay‐Sachs genotypes in pregnant women |
|
|
|
|
|
|
|
|
|
| Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder |
|
|
|
|
|
|
|
|
|
| Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents |
|
|
|
|
|
|
|
|
|
| The lobster claw defect with ectodermal defects, cleft lip‐palate, tear duct anomaly and renal anomalies |
|
|
|
|
|
|
|
|
|
| Dermatoglyphics in Down's syndrome. III |
|
|
|
|
|
|
✓ |
✓ |
Dutch |
| Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells |
|
|
|
|
|
|
|
|
|
| Studies in Down's syndrome |
|
|
|
|
|
|
|
|
|
| Studies in Down's syndrome |
|
|
|
|
|
|
|
|
|
| Isochromosome Y [46, X, i(Yq)] and female phenotype |
|
|
|
|
|
|
|
|
|
| Presumptive fluorescent evidence for spermatocyte with X+Y+Y diakinetic univalents in an XYY male |
|
|
|
|
|
|
|
|
|
| A girl with severe expression of the Holt‐Oram gene |
|
|
|
|
|
|
|
|
|
| Familial laryngeal abductor paralysis and psychomotor retardation |
|
|
|
|
|
|
|
|
|
| A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl |
|
|
|
|
|
|
|
|
|
| Frequency and morphology of the Y‐body in patients with female or ambisexual phenotype |
|
|
|
|
|
|
|
|
|
| A comparative study of different electrophoretic techniques for classification of hereditary hyperlipoproteinaemias |
|
|
|
|
|
|
|
|
|
| Congenital cornea plana in Finland |
|
|
|
|
|
|
✓ |
✓ |
Finland; Finnish; Finnish Lapland; Kemijoki |
| Dermatoglyphics in Down's syndrome. I |
|
|
|
|
|
|
✓ |
✓ |
mongoloid |
| Dermatoglyphics in Down's syndrome. II. |
|
|
|
|
|
|
✓ |
✓ |
Dutch individuals |
| Adenosine deaminase deficiency in a child with severe combined immunodeficiency |
|
|
|
|
|
|
|
|
|
| An atypical case of hypoxanthine‐guanine phosphoribosyltransferase deficiency (Lesch‐Nyhan syndrome) |
|
|
|
|
|
|
|
|
|
| An atypical case of hypoxanthine‐guanine phosphoribosyltransferase deficiency (Lesch‐Nyhan syndrome) |
|
|
|
|
|
|
|
|
|
| Deletion of the long arm of chromosome no. 7: Tentative assignment of the Kidd (Jk) Locus |
|
|
|
|
|
|
|
|
|
| Cystic fibrosis: Synthesis of ciliary inhibitor by amniotic cells |
|
|
|
|
|
|
|
|
|
| Antenatal genetic diagnosis in a kindred with a 15p+ chromosome |
|
|
|
|
|
|
|
|
|
| A partial trisomy of chromosome 1 in a family with a t(1q−;4q+) translocation |
|
|
|
|
|
|
|
|
|
| Partial trisomy 14q—and pseudoxanthoma elasticum |
|
|
|
|
|
|
✓ |
✓ |
non mongoloid; mongoloid |
| A family with dysostosis cleidocranialis in twins. With rare or never mentioned aspects in the relatives |
|
|
|
|
|
|
|
|
|
| The genetics of hereditary angioedema: A hypothesis |
|
|
|
|
|
|
|
|
|
| Biophysical and biochemical studies of the hair in cartilage‐hair hypoplasia |
|
|
|
|
|
|
|
|
|
| Trisomy of the short arm of chromosome 8: Association with translocation between chromosomes 8 and 22 46,XY,22−,t(8p22q)+ |
|
|
|
|
|
|
|
|
|
| Trisomy 18 and 21 in two siblings |
|
|
|
|
|
|
|
|
|
| Red cell polymorphisms in Down's syndrome. Gene frequencies and phenotype associations |
|
|
|
|
|
|
|
|
|
| The Schwartz syndrome in Southern Africa |
|
|
|
|
|
|
✓ |
✓ |
Cape Coloured community of Southern Africa |
| G, R and C banding patterns of human chromosomes produced by heat treatment in organic and inorganic salt solutions |
|
|
|
|
|
|
|
|
|
| The Meckel syndrome with limited expression in relatives |
|
|
|
|
|
|
|
|
|
| The influence of obstetric complications on the clinical picture in classical phenylketonuria |
|
|
|
|
|
|
|
|
|
| Pre‐symptomatic detection and genetic counselling in myotonic dystrophy |
|
|
|
|
|
|
|
|
|
| Distribution of ABO and Le<sup>a</sup> blood groups in pulmonary tuberculosis in Chinese |
|
|
|
|
|
|
|
|
|
| Rapid tissue culture and microbiochemical methods for analyzing colonially grown fibroblasts from normal, Lesch‐Nyhan and Tay‐Sachs patients and amniotic fluid cells |
|
|
|
|
|
|
|
|
|
| Prevalence of chromosome abnormalities among males examined for military service |
|
|
|
|
|
|
✓ |
✓ |
Danish male population |
| Metachromatic leukodystrophy |
|
|
|
|
|
|
|
|
|
| Chromosome studies in induced abortions |
|
|
|
|
|
|
|
|
|
| Chromosome studies in 5,049 consecutive newborn children |
|
|
|
|
|
|
|
|
|
| Theoretical implications of the application of polymorphic protein systems to gene location on a trisomic chromosome, and its application to the haptoglobin phenotype frequencies in Down's syndrome |
|
|
|
|
|
|
|
|
|