| Sjögren‐Larsson syndrome in Sweden. A clinical, genetic and epidemiological study |
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| Increased amnionic fluid alpha‐fetoprotein due to a holoacardium amorphous twin |
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| HLA Phenotypes and joint affection in psoriasis, acute anterior uveitis and chronic prostatitis |
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| Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis) |
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| Venous thromboembolic disease in Klinefelter's syndrome |
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| A twin study of aryl hydrocarbon hydroxylase (AHH) inducibility in cultured lymphocytes |
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| 45, X Constitution in a H‐Y antigen positive boy with partial monosomy 5p |
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| ECG Conduction disturbance in the first‐degree relatives of children with ventricular septal defect |
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| X‐linked Dyggve‐Melchior‐Clausen Syndrome |
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| Announcement |
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| Platelet monoamine oxidase activity in Down's syndrome |
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| Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11) |
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| The hydrolethalus syndrome: delineation of a “new”, lethal malformation syndrome based on 28 patients |
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found in Finland; "which are found in Finland" |
| Two unusual G‐band variants of the short arm of chromosome 9 |
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| Association of the X chromosomal region q11→22 and Klinefelter syndrome |
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| PROCEEDINGS OF The International Workshop on Genetic Control of Catecholamine Metabolism and its Possible Relation to Schizophrenia |
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| Introduction |
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| Contents |
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| The effect of haloperidol feeding on dopamine receptor number in ten mouse strains |
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| Genetic aspects of schizophrenia |
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| Biochemical genetics of neurotransmitter enzymes and receptors: Relationships to schizophrenia and other major psychiatric disorders |
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| Erythrocyte catechol‐O‐methyltransferase activity in related families with schizophrenia |
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| Erythrocyte catechol‐O‐methyltransferase activity in psychotic twins |
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| Erythrocyte catechol‐O‐methyltransferase activity in a Swedish population |
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✓ |
Swedish population |
| The Inheritance of human erythrocyte catechol‐O‐methyltransferase activity |
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| Kinetic aspects of monoamine oxidase activity in twins with psychoses |
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| Platelet monoamine oxidase activity in schlzophrenic families‐kinetic aspects |
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North‐Swedish |
| Dopamlne metabolism in red blood cells in schizophrena |
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| Gene homologies and linkage conservation |
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| Plasma dopamine β‐hydroxylase activity in a North Swedish isolate with a high frequency of schizophrenia |
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North Swedish; Middle Swedish |
| An experimental geneticist looks at catecholamine metabolism |
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| Thermal stability and the biochemical genetics of erythrocyte catechol‐O‐methyltransferase and plasma dopamine‐β‐hydroxylase |
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| Monoamine oxidase, phenylethylamine, norepinephrine and schizophrenia |
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| Ocular manifestations in a family with probably X‐linked cataracts |
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| Diagnosis of Refsum's disease using [1‐<sup>14</sup>C]phytanic acid as substrate |
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| Heterogeneity and pleiotropism in the Moebius syndrome |
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| X‐Linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females |
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Jewish; Druze |
| The femoral hypoplasia ‐ unusual facies syndrome: A genetic entity? |
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| Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues |
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| The significance of different types of information in calculating the probability that a female relative of a Duchenne muscular dystrophy patient is a carrier |
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| A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p |
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| Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients |
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| Triphalangeal thumbs‐ectrodactyly in a sporadic case |
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German extraction; Mexican families |
| Intracellular retention of lysosomal enzymes in cystic fibrosis |
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| Letters to the Editors |
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| Growth hormone and distal trisomy 17qter |
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| Interstitial deletion 4q and Rieger syndrome |
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| Probable autosomal dominant infantile pyloric stenosis in a large kindred |
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Jewish community in Georgia, U.S.S.R. |
| Huntington's disease: implications of associated cellular radiosensitivity |
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| Low density lipoprotein receptor activity in cultured fibroblasts from subjects with or without ischemic heart disease (in the absence of familial hypercholesterolemia)* |
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| Chorio‐retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome |
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| Lp(a) lipoprotein enters cultured fibroblasts independently of the plasma membrane low density lipoprotein receptor |
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| European Society of Human Genetics Abstracts from Symposium on “Human Behaviour and Genetics” |
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| Translocation X;9(q24;q34) in a girl with ovary dysfunction |
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| Chromosome maps of man and mouse |
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| The transition in frequency of Y‐chromatin in males during early infancy |
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| Intrafamilial correlation in Friedreich's ataxia |
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| Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father |
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| Limb deficiency syndrome in half‐sibs |
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| The apoE polymorphism studied by two‐dimensional, high‐resolution gel electrophoresis of serum |
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| Effects of age, sex and genes on sister chromatid exchange |
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| Factor XIII deficiency |
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✓ |
Bnei Israel Jewish community of Bombay; Israeli families |
| Human Cytogenetic Nomenclature |
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| Erratum |
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| A new growth deficiency syndrome |
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| Clinically manifesting carriers in Duchenne muscular dystrophy |
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| Cleft palate: A genetic and epidemiologic investigation |
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Danish |
| Dominant inheritance of microcephaly with short stature |
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| Gonadal dysgenesis, intra‐X chromosome insertion, and possible position effect in an otherwise normal female |
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| An Indian family with postaxial Polydactyly in four generations |
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| Sanfilippo syndrome type C: assay for acetyl‐CoA: α‐glucosaminide N‐acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals |
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| Urinary amino acids and organic acids in the Sjögren‐Larsson syndrome |
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| Turner's syndrome and 45, XO/46, X, del(X)(p11p22) karyotype |
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| Concanavalin A Reactivity of Human Amniotic Fluid AFP |
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| The identification of Y chromosome translocations following Distamycin A treatment |
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| Psychoses in twins‐a longitudinal study Introductory clinical report |
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| Activity of platelet monoamine oxidase in apparently healthy subjects |
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| Parental α 1‐antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome |
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| Phenotypic variation in Meckel syndrome |
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| Dermatoglyphic and cytogenetic studies in parents of children with trisomy 21 |
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| Family analysis of Werner's syndrome: A survey of 42 Japanese families with a review of the literature |
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| Automatic chromosome analysis |
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| Roberts's syndrome |
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| Familial X‐linked mental retardation and fragile X chromosomes in two Swedish families |
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| Muscular anomalies caused by delayed development in human aneuploidy |
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| Athelia in a female infant heterozygous for anhidrotic ectodermal dysplasia |
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| Monosomy 10qter due to a balanced familial translocation: t(10;16)(q25.2;q24) |
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| α<sub>1</sub>‐Antitrypsin in patients with hepatocellular carcinoma and chronic active hepatitis |
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✓ |
✓ |
Italian |
| Announcements |
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| Letter to the Editors |
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| Genetics of the low density lipoprotein receptor: |
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| Calf hypertrophy and asymmetry in female carriers of X‐linked Duchenne muscular dystrophy: an over‐diagnosed clinical manifestation |
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| Familial isolated growth hormone deficiency |
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| Announcements |
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| Prenatal diagnosis of Fanconi anemia |
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| Familial fibromatosis |
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| High resolution protein mapping in fibroblast cell lines and hair roots from patients with genetic disease* |
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| Third case of a distinct variant of the Ehlers‐Danlos Syndrome (EDS) |
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| Dominant inheritance of velopharyngeal incompetence |
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| Interstitial deletion of the short arm of chromosome 7 without craniosynostosis |
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| Nearwork and familial resemblances in ocular refraction: A population study in Newfoundland |
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| The G syndrome of dysphagia, ocular hypertelorism and hypospadias |
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| Complex Chromosomal Rearrangements |
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| Announcements |
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| Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling |
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| Spondylocostal dysostosis in South African sisters |
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| Familial additional chromosomal fragment ascertained in amniotic cell culture |
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| In utero diagnosis of achondrogenesis, type I |
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| Incidence of major chromosomal abnormalities |
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| Familial sex chromosome mosaicism (yes) and interchromosomal effects (no) |
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| International Conference on Dermatoglyphics |
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| A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q) |
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| Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter) |
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| HLA profile and Reiter's syndrome |
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| Klinefelter's syndrome with a 47, XXY, inv (12) (q15q24) karyotype |
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| Normal Hageman factor level in 7q deletion syndrome |
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| An unusual form of metachromatic leukodystrophy in three siblings |
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Iranian origin |
| 46,XY/48,XXY,+8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome |
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| Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12) |
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| Development of eight pubertal males with 47,XXY karyotype |
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| Muscular anomalies |
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| Mannosidosis: two brothers with different degrees of disease severity |
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| Recurrent unilateral hand malformations in siblings |
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| Pericentric X chromosome in a family |
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| Announcements |
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| Lecithin‐cholesterol‐acyltransferase deficiency: autosomal recessive transmission in a large kindred* |
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| Sickle Cell Disease in Brazil |
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| Prenatal diagnosis of Gaucher disease Assay of the ß‐glucosidase activity in amniotic fluid cells cultivated in two laboratories with different cultivation conditions |
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| Trisomy 3 mosaicism in a live‐born infant |
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| Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency) |
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| Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata |
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| Apparent influence of marker genotypes on variation in serum cholesterol in monozygotic twins |
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| Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia |
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| A biastellited marker chromosome in an infant with the caudal regression anomalad |
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| No “fragile X” chromosome in normal men |
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| Familial tricho‐rhino‐phalangeal syndrome Type II |
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| Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation |
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| Orbital cyst in addition to congenital cerebral and focal dermal malformations: A new entity? |
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| Prenatal diagnosis of campomelic dwarfism |
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| Adrenal adenomas in a patient with Gardner's syndrome |
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| “Fragile X” Chromosome in Normal Males |
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| Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) |
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| Histidinaemia in Sweden |
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| Abnormality of chromosome 16 and its phenotypic expression |
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| 49, XYYYY. A case report |
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| Variation in nucleolar organizer activity in lymphocytes of females with adenocarcinoma |
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| Pregnancy in Bloom's Syndrome |
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| Increased frequencies of chromosomal abnormalities in families with a history of fetal wastage |
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| An XXXY boy with X/XY half‐sister |
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| Trisomy 6qter |
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| Announcements |
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| Huntington's Chorea in South Wales A genetic and epidemiological study |
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| Fragile sites in human chromosomes I The effect of methionine on the Xq fragile site |
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| Familial 5/14 translocation with triple X and 47,XY + 14q‐ |
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| Polymorphism in chromosome 4 |
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| Follow‐up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974 |
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| Prenatal diagnosis of Krabbe disease |
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| Genetics of the low density lipoprotein receptor: |
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| Genetics of the low density lipoprotein receptor: |
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| Carrier detection in Sanfilippo syndrome type B: report of six families |
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✓ |
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| Complex segregation analysis of the Lp(a)/pre‐ß<sub>1</sub>‐lipoprotein trait |
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| Multiple forms of membrane‐bound β‐glucosidase in Gaucher's disease |
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| Partial chromosome 4 trisomy |
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✓ |
✓ |
black |
| The genetics of omphalocele |
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| Klinefelter syndrome and the Xq<sub>1l‐22</sub> region |
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| Hyperglycinemia and pregnancy |
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| March of Dimes medical symposium: Fetal Hypoxia and Brain Damage |
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| European Society of Human Genetics Abstracts from Symposium on “Human Cytogenetics” |
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