| Familial D/D translocation t(13q;14q) Eight members in four generations |
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| Genetics of acheiropodia (“the handless and footless families of Brazil”) |
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| Incontinentia pigmenti |
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| A familial F/G translocation [t(20p‐; 22q+)] observed in three generations |
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| Cystic fibrosis heterozygote detection: A study on a normal population |
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| A new case of the trisomy 9p syndrome: Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p)) and a peculiar congenital heart defect |
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| Familial primary vesicoureteral reflux |
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| An XX male: Cytogenetic and endocrine studies |
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✓ |
✓ |
black |
| Amniotic fluid alphafetoprotein measurements in the early prenatal diagnosis of central nervous system disorders |
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| Alpha fetoprotein levels in maternal serum and in amniotic fluid from early normal pregnancies |
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| X‐linked hypoxanthine‐guanine phosphoribosyltransferase deficiency without neurological disorders. A report of a family |
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| Familial amyotrophic lateral sclerosis with dementia: A second Canadian family |
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| Mental retardation and congenital malformations associated with a ring chromosome 6 |
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| Evidence for recessive inheritance of myopia |
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| Ring chromosome 13 syndrome |
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✓ |
✓ |
mongoloid slanting |
| The significance of “unspecific neuropathy” in hereditary ataxias and related disorders |
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| A computer‐oriented linkage analysis scheme |
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| Polycythemia Vera treated with <sup>32</sup>P and Myleran: Development of chronic granulocytic leukemia with chromosomal abnormalities in one patient |
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| A case of trisomy 8 mosaicism 47, XX, + 8/46, XX |
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| Familial occurrence of the <i>G</i> syndrome |
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| Genetics of the GPT system. Family, mother/child and association studies |
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| Asymmetric septal hypertrophy in a large Amish kindred |
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| Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9 |
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| Dominant mesomelic dwarfism of the hypoplastic tibia, radius type |
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| Friedreich's ataxia in Western Norway |
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| Familial balanced (7;11;21)translocation and Down's syndrome in two siblings |
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✓ |
✓ |
mongoloid |
| Materno‐fetal ABO incompatibility as a cause of spontaneous abortion |
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| Trisomy 9p in a patient with a <i>de novo</i> 9/15 translocation |
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| Focal dermal hypoplasia syndrome in a male |
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| Two cases of 8p trisomy in one sibship |
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| Lp(a) lipoprotein/pre‐ß<sub>1</sub>‐lipoprotein in Swedish middle‐aged males and in patients with coronary heart disease |
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| Linkage investigation of a large family with Reifenstein's syndrome |
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| Investigations on Huntington's disease in the Canadian Prairies |
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| Investigation on Huntington's disease in the Canadian Prairies |
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| A simple combinatorial method for calculating genetic risks |
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| Familial Kallmann syndrome with unilateral renal aplasia |
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| Neonatal neurofibromatosis: unusual manifestations with malignant clinical course |
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| XX males: two new cases |
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| Chromosomal mosaicism in amniotic fluid cell cultures |
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| Serum esterases of Icelanders 1. A “silent” pseudocholinesterase gene in an icelandic family |
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| The evaluation of infants with the Zellweger (cerebro‐hepato‐renal) syndrome* |
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| Thin ribs in neonatal myotonic dystrophy |
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| Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders |
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| Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism* |
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| Absence of differences in platelet dihydroxyphenyIaIanine (DOPA) oxidase polymorphism in health and Duchenne's muscular dystrophy |
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| 49, XXXXY patient with hemifacial microsomia |
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| A familial syndrome of central nervous system and ocular malformations |
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| Early childhood development of four boys with <b>47</b>, XXY karyotype |
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| Cultivated cells from diagnostic amniocentesis in second trimester pregnancies |
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| Associated congenital malformations in retinoblastoma |
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| Frequency of phenylketonuria in Norway |
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| AnthropologicaI significance of phenylketonuria |
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✓ |
✓ |
✓ |
Western European (Scottish, Irish) origin; Celtic origin; Celtic extraction; people of Celtic origin; sub-population of Celtic origin; Western |
| Vitiligo and dysgammaglobulinemia. A case report and family study |
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| Serum alkaline phosphatase in patients with multiple sclerosis |
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| Symposium Clinical Delineation of Birth Defects |
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| The effect of structural aberrations of the chromosomes on reproductive fitness in man |
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| The effect of structural aberrations of the chromosomes on reproductive fitness in man |
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| Detection of inborn errors of metabolism. IV. Galactokinase deficiency |
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| The 9p trisomy syndrome: Two further cases arising from different familial translocations |
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| The oro‐facial‐digital syndrome |
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| A girl with 46, XX, t(1;15) karyotype. Cytogenetic and clinical observations |
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| A cytogenetic survey of 14,069 newborn infants |
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| Prenatal diagnosis and family studies in a case of propionicacidaemia |
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| Moral and ethical problems of pre‐natal diagnosis |
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| Retinoblastoma ‐ a clinical survey and its genetic implications |
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| Length of Y chromosome and activity in boys |
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| Amniotic fluid alpha<sub>2</sub>‐macroglobulin and the antenatal diagnosis of spina bifida and anencephaly |
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| The 1976 Annual Meeting of the European Society of Human Genetics |
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| Molecular genetics of GM<sub>1</sub>β‐galactosidase |
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| Influence of the myopia gene on brain development |
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| Satellite association: Giemsa banding studies in parents of Down's syndrome patients* |
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| Two cases of the chromatin positive variety of ovarian dysgenesis (XO/XX mosaicism) associated with hGH deficiency and marginal impairment of other hypothalamic‐pituitary functions |
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| The Nathalie syndrome. A new hereditary syndrome |
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| The 9p‐ deletion syndrome. Report of a patient with a 46, XX, 9p‐ constitution due to a paternal t(9p‐; 15q+) translocation |
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| Origin of a small metacentric chromosome: Familial and cytogenetic evidence |
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| Ring chromosome 6 in a malformed boy |
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| Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease |
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| The development of haploid and diploid parthenogenetic mouse embryos |
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| Studies on mouse‐bank vole interspecific chimaeric embryos |
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| Developmental studies on molested mice: chimaeras and tetraploids |
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| Morphogenesis in trisomic mouse embryos |
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| Position effect variegation/X inactivation in the mouse |
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| Gene activity in early mammalian development |
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| Gene activity in early mammalian development |
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| Characterization of foetal cells in maternal blood |
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| Comparison of the chromosomal maps of chimpanzee and man |
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| Trisomy 9q ‐ a new syndrome |
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| Lateral asymmetry of gonadal growth and differentiation |
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| Developmental aspects of amino acid transport: switching‐on and switching‐off mechanism |
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| Partial deletions and trisomies of chromosome 13. Mapping in relation to the chromosome 13 banding |
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| Free Topic Meeting: Meiotic Chromosomes in Man and other Mammals |
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| Differentiation of male germinal cells in vitro |
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| G‐banding of meiotic chromosomes in the male: pachytene analysis of the 22 autosomes |
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| Meiosis in human male sterility: report of 27 cases with a common anomaly |
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| Announcements |
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| Journal of Immunogenetics |
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| Hepatitis associated antigen and the ABO locus in Down's syndrome |
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| Bilateral teratoma of testis in two brothers with 47,XXY Klinefelter's syndrome |
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| Dicentric X‐isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis |
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| Evidence for an autosomal recessive form of cleidocranial dysostosis |
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| Segregation of a t(14q22q) chromosome in a large kindred |
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| Congenital urinary tract malformations: epidemiologic and genetic aspects* |
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| Bone mass in men with Klinefelter's syndrome and in normal subjects, estimated by the cortical thickness of bone |
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| Down's syndrome with additional XYY aneuploidy |
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| Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome |
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✓ |
✓ |
Iranian |
| Diabetes mellitus: discrimination between single locus and muItifactorial models of inheritance |
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| The “labial index” in Down's syndrome |
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✓ |
✓ |
mongoloids |
| Cystic fibrosis heterozygote detection: A family study |
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| Letter to the Editor |
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| Announcement |
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| Amniocentesis: Its impact on mothers and infants. A 1‐year follow‐up study |
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| Autosomal recessive inheritance of osteogenesis imperfecta |
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| A study of certain traits accompanying some inherited neurological disorders |
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| Otodental dysplasia: a “new” ectodermal dysplasia |
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Italian extraction |
| Optimum pH for nuclear sex identification using quinacrine |
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| A diploid‐triploid human mosaic with cytogenetic evidence of double fertilization |
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| A possible major contribution to mental retardation in the general population by the gene for microcephaly |
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| A new form of hereditary short limbed dwarf ism with microcephalus |
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✓ |
✓ |
greatly different ancestry |
| Isochromosome for the short arm of X: A human mosaic 45,X/46,XXpi |
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| Elevated levels of alfa fetoprotein in maternal serum and amniotic fluid in two cases of spina bifida |
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| The Unique Green phenomenon and colour vision |
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| Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq) |
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| Investigation on Huntington's disease |
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| The pathological anatomy of the Smith‐Lemli‐Opitz syndrome |
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| Nomenclature: Additional chromosome bands |
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| Further studies of Lp(a) lipoprotein/pre‐β<sub>1</sub>,‐lipoprotein in patients with coronary heart disease |
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| Adducted thumb syndromes |
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| Variation in the centromeric banding of chromosome 19* |
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| Plasma lipoprotein abnormalities in a case of primary high‐density‐lipoprotein (HDL) deficiency |
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| Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus* |
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| Fetal loss and familial chromosome I translocations* |
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| Variable expression of Marfan syndrome in monozygotic twins |
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| International Registry of Abnormal Karyotypes |
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| Genetic regulatory systems for mammalian sexual development |
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| Y‐chromatin frequency in the blood of pregnant women during pregnancy |
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| Embryonic hemoglobins |
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| A rapid micro culture method of chromosome preparations from fibroblasts and amniotic cells* |
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| A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondyly* |
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| Familial translocation, t(2;5)(p23;q31) |
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