| Sanfilippo A syndrome in the fetus |
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| Detection of Fabry's disease heterozygotes by hair root analysis |
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| Klinefelter‘ syndrome and trisomy 18 in a newborn boy |
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| Double heterozygosis for hemoglobin C—beta thalassemia: Description of a Spanish family Hemoglobin C—beta thalassemia in a Spanish family |
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✓ |
✓ |
Spanish |
| Human chromosome preparations obtained from immunoadsorbent separated T‐ and B‐cells |
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| Phenotypic and genetic analysis of the Silver‐Russell syndrome |
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| Recessive spondylocostal dysostosis: Two new cases |
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| Serum IgM in retinitis pigmentosa: A genetic study |
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✓ |
✓ |
race |
| β‐galactosidase deficiency: Prolonged survival in three patients following early central nervous system deterioration |
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| Familial reinclusion of permanent molars |
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| Genetic control of human plasma creatine phosphokinase activity |
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| Pathologic diagnosis of Duchenne muscular dystrophy in an aborted fetus |
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| Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring |
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| Familial aplasia or hypoplasia of the patella |
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| Caudal regression anomalad (sacral agenesis) in siblings |
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| Dermatoglyphic and radiographic findings in a mother and daughter with pseudohypoparathyroidism |
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| Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia |
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| Letter to the Editors |
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| Announcements |
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| Genetic epidemiology of an institutionalized cohort of mental retardates |
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| Ichthyosis vulgaris showing features of the autosomal dominant and the X‐linked recessive variants in the same family* |
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| Familial occurrence of lumbar spondylolysis and spondylolisthesis |
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✓ |
✓ |
Finnish |
| Prenatal diagnosis of an XXY foetal karyotype in a woman with a previous 21‐trisomic child |
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| 2:2 and 3:1 Meiotic disjunctions in a carrier of a reciprocal 10/14 translocation |
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| The cerebro‐oculo‐facio‐skeletal syndrome |
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✓ |
✓ |
black |
| Camptomelic dwarfism associated with XY‐gonadal dysgenesis and chromosome anomalies |
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| Incomplete prenatal diagnosis of G‐trisomy mosaicism |
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| Pompe's disease: Diagnosis in kidney and leucocytes using 4‐methylumbelliferyl‐α‐D‐glucopyranoside |
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| Letter to the Editors |
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| Announcement |
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| Apparently non‐deleted ring‐1 chromosome and extreme growth failure in a mentally retarded girl |
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| Atypical expression of ß‐galactosidase deficiency in a child with Hurler‐like features but without neurological abnormalities |
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| The Dyggve – Melchior – Clausen syndrome in adult siblings |
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✓ |
✓ |
Lebanese extraction |
| H ‐ Y antigen in human intersexuality |
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| <i>In vitro</i> studies of the interaction of isolated Lp(a) lipoprotein and other serum lipoproteins with glycosaminoglycans |
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| Charcot‐Marie‐Tooth disease: Data for genetic counseling relating age to risk |
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| Biochemical investigations in cultured skin fibroblasts from patients with Duchenne muscular dystrophy |
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| The cherry red spot—myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency |
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| A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics |
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| ABO and Rh phenotyping of foetal blood obtained by foetoscopy |
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| The dermatoglyphic pattern of the trisomy 10p syndrome |
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| Renal dysplasia and asplenia in two sibs |
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| Cri‐du‐chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin |
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| Polymorphism of apolipoprotein E |
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| Use of microtechniques for the detection of lysosomal enzyme disorders: Tay‐Sachs disease, Gm<sub>1</sub>‐gangliosidosis and Fabry disease |
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| Ketotic hypoglycemia in the Penta X and other chromosome imbalance syndromes |
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| Urinary tract malformation in the XYY male |
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| Schizophrenia in a North Swedish geographical isolate, 1900–1977. Epidemiology, genetics and biochemistry |
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✓ |
✓ |
North Swedish geographical isolate |
| European Society of Human Genetics Abstracts from Symposium on “Chromosome Structure and Function”: Vienna, Austria. May 5–7, 1978 |
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| Expression of “adult” polycystic renal disease in the fetus and newborn |
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| Cluster of cystic fibrosis cases in a limited area of Brittany (France) |
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| Microtia and meatal atresia in mother and son |
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| 46,XY pure gonadal dysgenesis with non‐fluorescent Y chromosome |
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| Trisomy 8 mosaicism syndrome. Report of monozygotic twins |
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| Abnormalities resulting from a familial pericentric inversion of chromosome 18 |
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| Mosaicism and the trisomy 8 syndrome |
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| In vitro studies of the interaction of calcium ions and other divalent cations with the Lp(a) lipoprotein and other isolated serum lipoproteins |
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| Ring chromosome 5 in two malformed boys with Cri du Chat syndrome |
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| Hazards of amniocentesis: An unidentifiable fragment |
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| Complete trisomy 22 |
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| Partial tetrasomy 9 in a liveborn infant |
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| Prevalence of thyroid disorder in Down syndrome |
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| Taurodontism and enamel hypomaturation associated with X‐linked abnormalities |
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| A “new” autosomal dominant genodermatosis characterized by hyperpigmented spots and palmo‐ plantar hyperkeratosis |
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| Sex determination in nuclei of amnion fluid cells |
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| Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness |
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✓ |
✓ |
Afrikaner |
| The cloverleaf skull |
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| Partial trisomy 6 |
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| Is Menkes syndrome a copper storage disorder? |
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| Journal of Immunogenetics |
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| Glycoproteins and cystic fibrosis: A review |
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| Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14) (p11;p11) |
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| The Lp lipoprotein in Japanese |
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| Low arylsulphatase A activity in a family without metachromatic leukodystrophy |
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| Familial ovarian carcinoma |
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✓ |
✓ |
Jewish families from Germany, presently residing in Israel. |
| Stimulation of amniotic fluid cells by fibroblast growth factor |
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| Partial trisomy 15 and temporal lobe syndrome in a retarded girl without gross malformations |
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| Biochemical studies on an unusual case of fucosidosis |
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| An XYY boy with short stature and a case of Klinefelter's syndrome (XXY) in a family with inversion 9 |
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| Announcements |
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| International Symposium on Oligozoospermia May 29–31, 1980 L'Aquila |
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| Johanson‐Blizzard syndrome in a large inbred kindred with three involved members |
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| Autosomal recessive inheritance of metaphyseal dysplasia |
|
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|
✓ |
✓ |
Afrikaner |
| Creatine kinase* isoenzyme patterns in Duchenne muscular dystrophy |
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| Down syndrome in two of three triplets |
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| Autosomal dominantly inherited adductor laryngeal paralysis ‐ a new syndrome with a suggestion of linkage to HLA |
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| Additional information on familial essential (benign) chorea |
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| Abnormal Childhood Phenotypes Associated with the Same “Balanced” Chromosome Rearrangements as In the Parents |
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| Chromosomal Abnormalities and Malignant Diseases |
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| The Spatial Relationships of the Secondary Constriction Regions of the No. 9 Chromosomes in Human Interphase Nuclel |
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| Lethal Short‐limbed Dwarfism. A New Autosomal Recessive Syndrome? |
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| Computerized Chromosome Data Banks |
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| The Chromatid Gap as a Folding Defect. Evidence from Mercaptoethanol and Caffeine Treatment |
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| Frequencies of Active Nucleolus Organizing Regions in Young and Old People |
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| Rapid Identification of Chromosomes Carrying Silver‐Stained Nucleolus Organizing Regions: Application to a Case of 21/21 Robertsonian Translocation |
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| Biochemical Studies at Meiotic Prophase in the Male Mouse |
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| Genes on Chromosome 7 |
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| A New Syndrome of Congenital Malformation in Sibs with Features of ivemark's Syndrome with Cystic Kidneys |
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| The Influence of the Distribution of Photolesions on the Induction of Chromosome Shattering in Chinese Hamster Cells by UV‐Microirradiation and Caffeine |
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| Induction of Chromosome Shattering by Whole Cell Irradiation (Λ= 254 nm) and Posttreatment with Caffeine: A Quantitative Evaluation |
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| The Gene for Human Peptidase A is on Band 18q23 and Shows Triplex and Uniplex Dosage Effect |
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| Diagnosis of Malignancy by Cytogenetic Means in Effusions (202 Pleural, 300 Ascites). Methods and Results |
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| Three Patients with t(1;7) and Myelofibrosis |
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| rDNA and Nucleolus Organizer Regions in Man. V. rDNA Levels and Protein Synthesis |
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| Studies on the Induction of Sister Chromatid Exchange in Human Fibroblasts by Diethylstilbestrol |
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| Influence of Low‐dose Mutagen Exposure on the Association of Human Acrocentric Chromosomes |
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| Selective Somatic Pairing and Fragility at 1q12 in a Boy with Common Variable Immuno Deficiency |
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| Familial Reciprocal Translocation t(9;13) (p11;p12) Investigated by Silver Staining and by <i>in Situ</i> Hybridisation |
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| First Meiotic Metaphase Bivalent: A Model |
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| Electron Microscopic Studies on Human Chromosomes |
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| Study of Sex Chromosomes in Infertile and Gonadal Dysgenetic Patients |
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| On the Occurrence of a Diffuse Stage in Melosis and the Difference in the Structure of Mammalian, Grasshopper and Plant Chromosomes as Revealed at this Diffuse Stage |
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| The Effect of SH–SS Transition on Chromosome Morphology and C‐banding Pattern |
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| Some Aspects of Monosomy 7 |
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| Autosomal Dominantly Inherited Adductor Laryngeal Paralysis ‐ a New Syndrome with a Possible Linkage to <i>HLA</i> |
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|
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| New Aspects of Human Chromosome Polymorphism in No. 6 and No. 9 |
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| Origin of the Supernumerary Chromosome in Trisomy 21 |
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| 1977 ESHG Report on Genetic Counseling in Europe |
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| Nucleolus Organizer Region In Robertsonian Translocation |
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| Regulation of NOR Activity and Ribosomal RNA Synthesis in Somatic Cell Hybrids |
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| Magnification and Regulation of Ribosomal Genes in Normal Cells and Cancer Cells |
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| The Benefits of Sequential G‐ and C‐ Banding of Cancerous Metaphases |
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| Complex Chromosome Rearrangements in Chronic Myelocytic Leukemia |
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| Report of an Atypical Ph<sup>1</sup> Translocation in CML and 5q ‐ in Two AML Cases |
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| Cytogenetic Findings in 108 Cases of Chronic Myeloid Leukemia |
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| Pericentric Inversion of Chromosome 9: A Microdensitometric Study |
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| Inborn Errors of Amino Acid Metabolism Sugar and Mucopolysaccharides in Children with Mental Retardation |
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| Enzyme Polymorphisms in Iranian Armenians |
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| A 14q + Chromosome in a B‐cell ALL and a Case of Leukaemic Non‐endemic Burkitt's Lymphoma |
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| Chromosomes of a Human Choriocarcinoma Cell Line in Vitro |
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| Non‐random Clonal Evolution in 46 Cases of Chronic Myeloid Leukemia |
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| Dermatoglyphic Studies In Malignant Melanoma |
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| Y‐chromosome and Sexual Differentiation |
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| UV‐Microirradiation of Chinese Hamster Cells and Posttreatment with Caffceine: Induction of Chromosome Shattering in Chromatin Outside the Irradiation Site |
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| Chromosome 15 and Prader‐Willi Syndrome |
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| Preliminary Report of the Committee on Teaching and Training in Medical Genetics |
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| Spontaneous abortion, sex ratio and facial cleft malformations |
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| An unusual form of galactosemia: Studies on erythrocytes and hair roots |
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| Partial 2p trisomy (p21→pter) in two siblings of a family with a 2p‐:15q+ translocation |
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| Development of instruments to measure counselees' knowledge of Down syndrome |
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| A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities |
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| Arginase deficiency in multiple tissues in argininemia |
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|
✓ |
✓ |
Mexican |
| Developmental abnormalities associated with long arm deletion of chromosome No. 6 |
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| Femoral hypoplasia—unusual facies syndrome: A genetic syndrome? |
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| Glutaric aciduria in progressive choreo‐athetosis |
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| Alpha‐1‐antitrypsin (Pi)‐types in recurrent miscarriages |
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| Benign hereditary chorea Clinical and genetic aspects |
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| The finding of a higher frequency of long Y chromosomes in criminals: Does the Y chromosome play a role in human behavior? |
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|
| European Society of Human Genetics Abstracts from Symposium on “Clinical Genetics” Oslo, Norway |
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| Central nervous system abnormalities ‐ contrasting patterns in early and late pregnancy |
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|
|
| Testicular testosterone biosynthesis in male Saanen goats with XX sex chromosomes |
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|
|
| Erythrokeratodermia variabilis in a Jewish Kurdish family |
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|
✓ |
✓ |
Jewish; Kurdistan/Kurdish |
| Large Y chromosome (Yq+) and increased risk of abortion |
|
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|
|
| Branchio‐oto‐renal dysplasia and branchio‐oto dysplasia: Two distinct autosomal dominant disorders |
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| Congenital hydrocephalus and cerebellar agenesis |
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| Rendu‐Osler‐Weber Syndrome |
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| Synthetic substrate ß‐glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease |
|
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|
|
| A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency |
|
|
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|
|
|
✓ |
✓ |
Mexican |
| Serial duplication of 10 (q11→q22) in a patient with minor congenital malformations |
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| Amniotic fluid cell mosaicism for presumptive trisomy 20 |
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| Humero‐radial synostosis |
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| Galactose‐1‐phosphate accumulation by a Duarte‐transferase deficiency double heterozygote |
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| Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction |
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| Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction |
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| Osteopathia striata with cranial sclerosis. An autosomal dominant entity |
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| Cystic fibrosis liver sialyltransferase |
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| Fine structure alterations of elastic fibers in pseudoxanthoma elasticum |
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| Prenatal diagnosis of 5p‐ |
|
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|
| Observations of ridge appearances in a normal population and in Down syndrome patients (21‐trisomy) using the scanning electron microscope: Preliminary report |
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| Double pre‐ß lipoprotein in ischaemic heart disease |
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| Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation |
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| Cystic fibrosis: Cell culture classes in a Danish population |
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✓ |
✓ |
Danish |
| Histocompatibility typing and the counseling of families with ankylosing spondylitis |
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✓ |
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| Presymptomatic diagnosis of adult onset polycystic kidney disease by ultrasonography |
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| Gaucher's disease Factors affecting the 4‐methylum‐belliferyl‐β‐D‐glucosidase activity of cultured skin fibroblasts |
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| Ultrasonography for guidance of amniocentesis in genetic counseling |
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| Frequencies of Sister Chromatid Exchanges in Bloom's Syndrome Fibroblasts |
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| X‐Chromosome Function and Female Gametogenesis |
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| Cytogenetic Follow‐up Studies of Patients with Acute Non‐Lymphocytic Leukemia and Chronic Myeloid Leukemia |
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| Chromosome Aberration in Human Neoplasm: Occurrence and Significance |
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| Nucleohistone: Structural Relationship to DNA |
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| Spontaneous Chromosome Breaks <i>in Vitro</i> |
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| Chromosome Banding: Retrospect, Current Research and Prospects |
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| Consanguineous Marriages and Inbreeding Among Iranian Jews |
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| Red Cell Esterase D Polymorphism in Iran |
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| Assignment of the Gene Determining Human Acid α‐Glucosidase (α‐GLU) Using Somatic Cell Hybrids |
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| Concurrent Instability at Specific Sites of Chromosomes 1, 9 and 16 Resulting in Multi‐Branched Structures |
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| Turner syndrome with rare karyotypes |
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| Purification and characterization of altered cystic fibrosis liver α‐L‐fucosidase |
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