| Diagnostic molecular genetics of the fragile X |
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| Consanguinity and the genetic control of Down syndrome |
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| Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome |
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Sephardic Jewish |
| Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families |
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| Inherited quantitative DNA variation in the LPA (“apolipoprotein (a)”) gene |
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| Prenatal diagnosis in Pelizaeus‐Merzbacher disease using RFLP analysis |
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Finnish |
| On the familial occurrence of congenital bilateral absence of vas deferens |
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| Somatic and germ‐line mosaicism in autosomal dominant antecubital pterygium |
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| CSF and urine biogenic amine metabolites in Rett syndrome |
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| Apolipoprotein A‐l/C‐lll gene cluster polymorphism in Saudi Arabians, Filipinos and Caucasians |
✓ |
✓ |
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✓ |
Saudi Arabian, Filipino, Arab |
| Sotos syndrome and de <i>novo</i> balanced autosomal translocation (t(3;6)(p21;p21)) |
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| Monosomy X found at first trimester CVS: a diagnostic and counselling dilemma |
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| The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers |
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| 21st Symposium of the European Society of Human Genetics GENETICS IN CANCER & DEVELOPMENT Groningen May 11–13, 1989 Abstracts |
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| A familial interstitial deletion of the long arm of chromosome 21 |
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| The cis‐configuration effects of rare chromosomal fragile sites |
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| Announcements |
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| Retinitis pigmentosa: genetic mapping in X‐linked and autosomal forms of the disease |
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✓ |
✓ |
Irish origin; Irish pedigree; United States |
| Analysis of mosaic states in amniotic fluid using the <i>in‐situ</i> colony technique |
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| Time trends (1980–1987) of ten selected informative morphogenetic variants in a newborn population |
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| Amelogenesis imperfecta with taurodontism and the tricho‐dento‐osseous syndrome: separate conditions or a spectrum of disease? |
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| Families with X‐linked liver glycogenosis due to phosphorylase kinase deficiency |
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| Spinal muscular atrophy type I combined with atrial septal defect in three sibs |
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| Exclusion mapping of 12 X‐linked disease loci and 10 DNA probes from the long arm of the X‐chromosome |
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| Morphologic variants in parents of children with malformation syndromes: are they indicators of somatic mosaicism? |
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| Disomic balanced reciprocal translocation |
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| Incontinentia pigmenti: XXY male with a family history |
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| The Proteus syndrome: association with nephrogenic diabetes insipidus |
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| Friedreich's ataxia: a descriptive epidemiological study in an Italian population |
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| Very early onset Huntington's disease: genetic mechanism and risk to siblings |
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| Bone marrow transplantation in canine GM1 gangliosidosis |
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| Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity |
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✓ |
✓ |
Italian |
| Fetal hydrops in Sardinia: implications for genetic counselling |
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✓ |
✓ |
Sardinian; Mediterranean populations |
| Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians |
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✓ |
Armenians; Mediterranean and near Eastern populations |
| Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance |
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| The Niikawa‐Kuroki (Kabuki make‐up) syndrome in a Moslem Arab child |
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Moslem Arab; non-Japanese; Arab descent; Japanese |
| Association of DNA‐haplotypes in the human LDL‐receptor gene with normal serum cholesterol levels |
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✓ |
from Germany |
| A possible relationship between Beckwith‐Wiedemann syndrome, urinary tract anomaly and prune belly syndrome |
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| Excess of HLA parental sharing in families with Turner patients |
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| Emery‐Dreifuss syndrome in three generations of females, including identical twins |
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| Clinical expression of Menkes syndrome in females |
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| Re‐evaluation of GM2346 from a del(16)(q22) to t(4;16)(q35;q22.1) |
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| Diagnosis of familial amyloidotic polyneuropathy in France |
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French; origin in Germany; family from Picardy; family from Illinois (with origin in Germany) |
| Announcements |
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| A cost‐benefit analysis of prenatal diagnosis by amniocentesis in Denmark |
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| Batten's disease: failure of allogeneic bone marrow transplantation to arrest disease progression in a canine model |
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| RFLP analysis for diagnosis of haemophilia A in the German Democratic Republic |
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✓ |
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| Maternal serum markers in screening for Down syndrome |
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| Lack of specificity of DA/DAPI fluorescence |
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| Defective oxidation of pristanic acid by fibroblasts from patients with disorders in propionic acid metabolism |
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| Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A “new” mental retardation syndrome |
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| Deletion of chromosome 1p: a short review |
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| Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature |
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| Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader‐Willi syndrome |
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| A case of 46,XX,r(X) (p1q1) diagnosed by<i>in situ</i>hybridization |
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| A linkage study of malignant hyperthermia (MH) |
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✓ |
German families |
| High resolution banding of an unusual reciprocal translocation in recurrent abortions |
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| Three‐generation transmission of Hirschsprung's disease |
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| Terminal 7q deletion as a cause of holoprosencephaly |
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| Phenotype of two males with abnormal Y chromosomes |
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| Marfan syndrome: a diagnostic dilemma |
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| Haplotype analysis for CF‐linked DNA polymorphisms in Switzerland |
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✓ |
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| Rate of recombination of chromosomes 21 in parents of children with Down syndrome |
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| Restriction site polymorphism at the LPA (Lp(a) apoliprotein; apoliprotein(a)) locus |
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| Duplication 3p and cyclopia |
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| Real effects of consanguinity |
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| Ratio of fetal to maternal DNA is less than 1 in 5000 at different gestational ages in maternal blood |
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| Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports |
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| Megalocornea, macrocephaly, mental and motor retardation (MMMM) |
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| Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion |
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| Familial caudal dysgenesis: evidence for a major dominant gene |
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| Hemophilia B: diagnostic value of RFLP analysis in 19 of the 20 known Finnish families |
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✓ |
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| Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review |
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| Lacrimo‐auriculo‐dento‐digital (LADD) syndrome with renal and foot anomalies |
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| Reproductive planning after genetic counselling: a perspective from the last decade |
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| Neurofibromatosis 2: a clinically and genetically heterogeneous disease? Report on 10 sporadic cases |
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| Autosomal dominant craniosynostosis of the sutura metopica |
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| Letters to the Editors |
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| Exclusion mapping of the Cohen syndrome gene from the Prader‐Willi syndrome locus |
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| Common intragenic and extragenic polymorphisms of blood coagulation factors VIII and IX are different in Chinese and Caucasian populations |
✓ |
✓ |
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✓ |
✓ |
Chinese population |
| Craniofrontonasal dysostosis: variable expression in a three‐generation family |
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| Normal size of hands and feet in Prader‐Willi syndrome |
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| Abstract |
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| Molecular Genetics of Diseases: Clinical Applications |
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| Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences |
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| Serum protein markers in Chinese schizophrenics ‐ haptoglobin types and transferrin and group‐specific component subtypes |
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| Premature centromeric divisions and prominent telomeres in a patient with persistent Mullerian duct syndrome |
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| Radial ray defects and associated anomalies; unique nature of the radial deficiencies and facial dysmorphism in the TAR syndrome |
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| Charcot‐Marie‐Tooth disease: call for patients |
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| A dicentric variant of chromosome 6: characterization by use of <i>in situ</i> hybridisation with the biotinylated probe p308 |
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| Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn |
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| 5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly |
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| Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results |
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✓ |
✓ |
Finnish families |
| A child with cystic fibrosis: I. Parental knowledge about the genetic transmission of CF and about DNA‐diagnostic procedures |
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| A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis |
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| Announcements |
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| Xbal polymorphism of the apolipoprotein B gene influences plasma lipid response to diet intervention |
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| Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl |
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| Robinow syndrome: report of two patients with cystic kidney disease |
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| Neurodevelopmentai models of mental illness |
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| Fraser syndrome and mouse ‘bleb’ mutants |
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| Autosomal dominant familial spastic paraplegia: report of a large New England family |
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| Abnormalities of the cerebellum in oro‐facio‐digital syndrome II (Mohr syndrome) |
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| Trisomy of chromosome 20/isochrome 12p |
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| Heart‐hand syndrome II. A report of Tabatznik syndrome with new findings |
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| Right‐sided microtia and conductive hearing loss with variable expressivity in three generations |
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| Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16) |
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| Congenital tracheal stenosis in Pfeiffer syndrome |
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| Phenotypic variability in Meckel–Gruber syndrome |
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✓ |
✓ |
Bedouin |
| Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients |
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✓ |
✓ |
Portuguese |
| Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? |
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| Possible association of rare autosomal folate sensitive fragile sites and idiopathic mental retardation: a blind controlled population study |
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| Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism |
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| Letter to the Editors |
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| Announcement |
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| A new syndrome of aphalangy, hemivertebrae, and urogenital‐intestinal dysgenesis |
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| Cardio‐facio cutaneous syndrome: neurological manifestations |
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| Diabetes mellitus in a young man with Bloom's syndrome |
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| Partial lipodystrophy syndromes – a further male case |
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| Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population |
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| Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis |
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| An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA |
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| Bes, Aesop and Morgante: reflections of achondroplasia |
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| A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies |
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| Metachromatic leukodystrophy in Greece: observations on 4 cases |
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| Clinical considerations in Buschke‐Ollendorff syndrome |
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| The phakomatoses as paracrine growth disorders (paracrinopathies) |
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| Complex familial translocation |
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| The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X |
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| Comparison of anatomical location of squamous cell carcinoma within the oral cavity and oropharynx with the incidence of <i>in vitro</i> hyperdiploidy |
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| X‐linked myotubular myopathy: a linkage study |
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| Dominant branchial cleft syndrome with characteristics of both branchio‐oto‐renal and branchio‐oculo‐facial syndrome |
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| How necessary is a chromosomal analysis in growth‐retarded girls? |
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| Trisomy 20q. A new case and further phenotypic delineation |
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| Consanguinity and confounding |
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| Announcements |
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| Monozygotic twins concordant for Rubinstein‐Taybi syndrome |
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| Frequency and effects of the apolipoprotein A‐IV polymorphism |
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| <i>In situ</i> hybridization analysis of isodicentric X‐chromosomes with short arm fusion |
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| Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA |
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| High urinary excretion of N‐(pyrrole‐2‐carboxyl) glycine in type II hyperprolinemia |
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| Pseudoinflammatory fundus dystrophy: a follow‐up study |
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| Chromosome breakage in lymphocytes from members of cancer families showing autosomal dominant inheritance |
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| A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome |
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| An evaluation of 75 terminations of pregnancy based on abnormal laboratory findings at first trimester CVS |
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| Letter to the Editors |
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| Autosomal dominant osteopetrosis type II with “malignant” presentation: further support for heterogeneity? |
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| Association of hypercholesterolemia and apolipoprotein E4 in school children |
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| Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles |
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| X‐linked myopia: Bornholm Eye Disease |
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| Gene‐gene interaction between the low density lipoprotein receptor and apolipoprotein E loci affects lipid levels |
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| The wrinkly skin syndrome: a report of a case and review of the literature |
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✓ |
✓ |
Jewish Moroccan |
| Amniotic fluid microvillar enzyme activity in fetal malformations |
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| A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms |
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| Three years' diagnostic experience with direct karyotyping of neonatal blood |
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| Deficiency of distal 8p —: report of two cases and review of the literature |
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