| Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature. |
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| Sex chromatin and the biological effects of triploidy. |
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| Extra chromosome in Kallmann's syndrome. |
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| Differentiation in human amniotic fluid cell cultures: II: Secretion of an epithelial basement membrane glycoprotein. |
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| 45,X/47,XYY mosaicism. |
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| Haemoglobin D Ouled Rabah (beta 19[Bl] asn leads to lys) in a Tuareg tribe of the Southern Sahara. |
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| X/XYq - mosaicism and mixed gonadal dysgenesis. |
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| Early Diagnosis and Prevention of Genetic Diseases. Boerhaave Series for Postgraduate Medical Education, No. 11 |
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| Mutation Research, Problems, Results and Perspectives |
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| Haemoglobin: Structure, Function and Synthesis |
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| Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity. |
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| Testicular feminisation syndrome: unusual gonadal histology in an elderly patient. |
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| Analysis of family history data for evidence of non-Mendelian inheritance resulting from vertical transmission. |
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| Endocrine abnormalities and myopathy in Bloom's syndrome. |
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| Heterozygote advantage for the phenylketonuria allele. |
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| Problem of sex ratio in cases of type I syndactyly. |
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| GM1 gangliosidosis type 1 in twins. |
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| Two reciprocal translocations associated with microcephaly and retardation. |
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| Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum. |
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✓ |
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northern European ancestry |
| Association of ABO blood groups and vitiligo. |
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| Glucose-6-phosphate dehydrogenase (G6PD) activity of human sperm. |
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| 'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations. |
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| 15/15 translocation in Prader-Willi syndrome. |
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| A further example of human blood group chimaerism. |
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| The r(20) syndrome. |
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| Autosomal dominant trigonocephaly. |
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| RNA Polymerase (Cold Spring Harbor Monograph Series) |
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| Frequency of chromosomal abnormalities in miscarriages and perinatal deaths. |
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| Predisposition to spina bifida: Search for a relation to maternal gastric acid secretion. |
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| Two pericentric inversions of human chromosome 11. |
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| Recurrence risks in complex inheritance with special regard to pyloric stenosis. |
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| A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy. |
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| Hunter syndrome presenting as macrocephaly and hydrocephalus. |
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| Supernumerary small ring chromosome. |
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| Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3). |
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| Height and seriousness of crime in XYY men. |
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| Genetic heterogeneity within the chondroitinsulphaturias. |
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| Prenatal diagnosis and gonadal findings in X/XXX mosaicism. |
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| Reproductive ability of an adult female with Silver-Russell syndrome. |
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| Recessive form of Freeman-Sheldon's syndrome or 'whistling face'. |
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| Human Multiple Reproduction |
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| Diseases of the Fundus Oculi |
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| Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles. |
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| Three sisters with gonadoblastoma. |
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| Prenatal recognition of 4p- syndrome. |
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| Heterogeneity among ectodermal dysplasias. |
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| Modern Trends in Human Genetics--2 |
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| Sister chromatid exchange in dyskeratosis congenita lymphocytes. |
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| Partial trisomy 7p associated with familial 7p;22q translocation. |
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| Congenital discoid lupus in the newborn. |
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| Cebocephaly in an infant with trisomy 18. |
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| Genetics, Evolution and Man |
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| The HLA System: An Introductory Survey |
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| The incidence of hereditary disease in man. |
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| Radiological protection and assessment of genetic risk. |
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| Application of chromosome banding techniques to the study of primary chromosome structural changes. |
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| Chromosome survey of total population of mentally subnormal in North-East Scotland. |
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| Haemoglobin Porto Alegre in a Cuban family. |
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| Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. |
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| Partial trisomy 8 (trisomy 8q2106 leads to 8qter). |
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| Immunoglobulin levels in dystrophia myotonica. |
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| Two cases of Ellis-van Creveld syndrome in a small island population. |
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| A fluorescence polymorphism associated with Down's syndrome? |
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| Four new cases of ring 21 and 22 including familial transmission of ring 21. |
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| Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus. |
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| 46,XX/46,XX,r(15) mosaiciam: report of a case. |
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| A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. |
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| Gonadal dysgenesis with Graves's disease. |
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| Control of Gene Expression |
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| Differentiation in human amniotic fluid cell cultures: I: Collagen production. |
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| Genetic markers in Welsh gypsies. |
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| Dermatoglyphs of Klinefelter's syndrome. |
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| Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome? |
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| Inheritance of Ehlers-Danlos type IV syndrome. |
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| Twins with nonconcordant sexual aneuploidy. |
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| Ring chromosome 4. |
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| Handbook of Genetics |
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| Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism. |
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| Amylase polymorphism. |
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| Risk of closed lesions in sibs of cases of open neural tube defect. |
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| The major psychoses. |
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| Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation. |
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| Colchester revisited: a genetic study of mental defect. |
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| Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family. |
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| Stable dicentric autosome, tdic (8:22)(p23:p13), in a mentally retarded girl. |
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| Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation. |
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| Rapid prenatal diagnosis of the Lesch-Nyhan syndrome. |
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| Autosomal recessive hydrotic ectodermal dysplasia. |
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| 'Mirror image' chromosome No. 21. |
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| Genetic study of Welsh gypsies. |
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| Alpha1-antitrypsin deficiency with M-like phenotype. |
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| Bilateral absence of the kidneys and ureters. Three cases reported in one family. |
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| G gamma delta beta thalassaemia and g gamma HPFH (Hb Kenya type): comparison of 2 new cases. |
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| Ischaemic heart disease. |
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| H-Y antigen and the growth of the dominant gonad. |
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| Lead levels in human placentae from normal and malformed births. |
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| Severe lower limb malformation associated with other deformities and death in infancy in two brothers. |
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| Probable autosomal recessive Marfan syndrome. |
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| Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities. |
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| A dicentric no. 15 chromosome with two satellite regions. |
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| Genetics of Mobius syndrome. |
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| Congenital, hypotonic-sclerotic muscular dystrophy. |
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| A simple non-graphic method for pedigree description and analysis. |
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| Unusual occurrence of dextrocardia with situs inversus in succeeding generations of a family. |
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| Sex linked hydrocephalus. |
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| Crossed asymmetry in Russell-Silver syndrome. |
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| Family in which Duchenne's muscular dystrophy and protan colour blindness are segregating. |
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| De novo balanced reciprocal translocation 46,XY,t(6;8)(q13;q22). |
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| A partial long arm deletion of chromosome 7:46,XY,del(7)(q32). |
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| Racial Variation in Man. (Institute of Biology Symposium No. 22.) |
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| Genetics and the Law |
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| Occurrence of childhood cancers among sibs and estimation of familial risks. |
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| 46,XX/47XX, + 14 mosaicism in a liveborn infant. |
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| Trisomy 22 mosaicism. |
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| Echinocytes in families with Duchenne muscular dystrophy. |
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| Trisomy 22 with 'cat eye' anomaly. |
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| Methodology in Medical Genetics. An Introduction to Statistical Methods |
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| Cancer Genetics |
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| Biology of Radiation Carcinogenesis |
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| Chromosome anomalies among livebirths. |
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| Congenital malformations and childhood neoplasms. |
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| Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome. |
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| An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies. |
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| Absence of distal interphalangeal fold causing difficulty in extending fingers. |
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| Muscle nuclear changes in fetuses at risk for Duchenne muscular dystrophy. |
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| Prenatal diagnosis: techniques used to help in ruling out maternal cell contamination. |
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| Familial X-linked mental retardation with an X chromosome abnormality. |
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| Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy. |
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| Down's syndrome and deletion of short arms of a G chromosome. |
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| Mild sickle-cell anaemia in Iran associated with high levels of fetal haemoglobin. |
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| Reproduction in a woman with low percentage t(21q21q) mosaicism. |
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| The prune belly anomaly: heterogeneity and superficial X-linkage mimicry. |
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| Proceedings of a Workshop on Basic Aspects of Freeze Preservation of Mouse Strains (1974, Bar Harbor, Me.) |
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| Monogenic disorders. |
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| Maxillofacial dysostosis. |
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| Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen. |
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