Patricia Jacobs
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(Suggest an Edit or Addition)According to Wikipedia, Patricia Ann Jacobs OBE FRSE FRS FMedSci FRCPath is a Scottish geneticist and is Honorary Professor of Human Genetics, Co-director of Research, Wessex Regional Genetics Laboratory, within the University of Southampton.
Patricia Jacobs's Published Works
Published Works
- A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism (1959) (995)
- Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function (1997) (685)
- Trisomy in man. (1984) (674)
- A cytogenetic study of 1000 spontaneous abortions (1980) (643)
- Segmental aneuploidy and the genetic gross structure of the Drosophila genome. (1972) (604)
- Direct analysis of the chromosome constitution of human spermatozoa (1978) (405)
- A cytogenetic survey of 11,680 newborn infants (1974) (403)
- The marker (X) syndrome: a cytogenetic and genetic analysis (1984) (381)
- Aggressive Behaviour, Mental Sub-normality and the XYY Male (1965) (369)
- Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome (1991) (345)
- Age- and tissue-specific variation of X chromosome inactivation ratios in normal women (2000) (338)
- Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole (1982) (332)
- Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. (1992) (331)
- Evidence for the existence of the human "super female". (1959) (258)
- Mortality in women with turner syndrome in Great Britain: a national cohort study. (2008) (256)
- The somatic chromosomes in mongolism. (1959) (251)
- Cytogenetic studies in primary amenorrhoea. (1961) (245)
- Turner syndrome: a cytogenetic and molecular study (1997) (244)
- Change of Human Chromosome Count Distributions with Age: Evidence for a Sex Difference (1963) (237)
- Mechanism of origin of complete hydatidiform moles (1980) (234)
- Distribution of Human Chromosome Counts in Relation to Age (1961) (226)
- Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia (2014) (224)
- Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. (2005) (223)
- Mortality in patients with Klinefelter syndrome in Britain: a cohort study. (2005) (223)
- Cytogenetic studies in chronic myeloid leukaemia and acute leukaemia associated with monogolism. (1961) (222)
- The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes (2005) (218)
- A study of the chromosome damage persisting after x-ray therapy for ankylosing spondylitis. (1962) (215)
- X-linked mental retardation: a study of 7 families. (1980) (202)
- The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. (2001) (201)
- Fragile X premutation screening in women with premature ovarian failure. (1998) (197)
- Is the prevalence of Klinefelter syndrome increasing? (2008) (194)
- The origin of human triploids (1978) (193)
- Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review* (2010) (193)
- Cytogenetic studies on bone-marrow in chronic myeloid leukaemia. (1963) (184)
- Structural Abnormalities of the Y Chromosome in Man (1966) (183)
- Trisomy 21: association between reduced recombination and nondisjunction. (1991) (182)
- Maternal uniparental disomy for chromosome 14. (1991) (176)
- XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. (1991) (174)
- An imprinted gene(s) for diabetes? (1995) (174)
- Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. (2008) (173)
- Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study (2001) (168)
- Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. (1996) (165)
- Studies of FRAXA and FRAXE in women with premature ovarian failure. (1998) (163)
- A Possible Specific Chromosome Abnormality in Human Chronic Myeloid Leukæmia (1960) (163)
- X chromosome loss and ageing (2007) (162)
- Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. (2008) (162)
- Abnormalities involving the X chromosome in women. (1960) (157)
- Autism, language and communication in children with sex chromosome trisomies (2010) (157)
- The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination. (1994) (156)
- Abnormalities of the Sex-Chromosome Complement in Man (1964) (151)
- Further segregation analysis of the fragile X syndrome with special reference to transmitting males (2004) (146)
- An Analysis of the Break Points of Structural Rearrangements in Man (1974) (142)
- Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes (1988) (140)
- The chromosome complement of human gametes. (1992) (140)
- C‐ and Q‐band polymorphisms in the chromosomes of three human populations (1976) (138)
- Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction. (1995) (137)
- Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. (1981) (137)
- Chromosome studies on 3500 newborn male infants. (1970) (133)
- Mutation rates of structural chromosome rearrangements in man. (1981) (132)
- Chromosome studies in human leukaemia. (1959) (128)
- FRAXA and FRAXE: the results of a five year survey (2000) (122)
- Fragile X premutations in familial premature ovarian failure (1995) (119)
- A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome (1990) (117)
- Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays (2003) (113)
- Cytogenetic studies in leucocytes on the general population: subjects of ages 65 years and more (1963) (107)
- Population studies of the fragile X: a molecular approach. (1993) (104)
- Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. (1996) (102)
- Correlation between euploid structural chromosome rearrangements and mental subnormality in humans (1974) (102)
- Chromosome studies on men in a Maximum Security Hospital (1968) (99)
- Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations. (2002) (99)
- Chromosome Abnormalities: Origin and Etiology in Abortions and Livebirths (1987) (98)
- Distinctive patterns of memory function in subgroups of females with Turner syndrome: evidence for imprinted loci on the X-chromosome affecting neurodevelopment (2000) (98)
- Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited (2005) (94)
- 4 The Origin of Numerical Chromosome Abnormalities (1995) (93)
- Characterisation of interstitial duplications and triplications of chromosome 15q11–q13 (2002) (93)
- Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009 (2012) (91)
- A cytogenetic study of spontaneous abortions in Hawaii (1978) (91)
- Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation. (1994) (89)
- Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology (1982) (86)
- Cytogenetic and molecular studies of trisomy 13. (1987) (84)
- Three patients with ring (X) chromosomes and a severe phenotype. (1993) (84)
- The parental origin of the extra X chromosome in 47,XXX females. (1990) (84)
- A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. (1992) (83)
- Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. (1993) (83)
- The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission. (1997) (82)
- A cytogenetic and molecular study of a series of 45,X fetuses and their parents. (1991) (81)
- Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia (2003) (80)
- Translocation heterozygosity and associated subfertility in man. (1972) (79)
- Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors. (2001) (77)
- Cancer Incidence and Mortality in Men With Klinefelter Syndrome: A Cohort Study (2006) (76)
- Interpretation of chromosome counts made on bone-marrow cells. (1960) (75)
- A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome (1999) (72)
- Aging and aneuploidy: evidence for the preferential involvement of the inactive X chromosome. (1985) (72)
- Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalities (1972) (72)
- Chromosome studies on randomly chosen men and women. (1965) (72)
- Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency (2013) (71)
- Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers. (1986) (71)
- Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns (1994) (70)
- Probable Assignment of the Alpha Locus of Haptoglobin to Chromosome 16 in Man (1969) (69)
- Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. (2010) (69)
- A survey of sex chromatin abnormalities in mental hospitals. (1968) (68)
- The role of chromosome abnormalities in reproductive failure. (1990) (68)
- A study of females with deletions of the short arm of the X chromosome (1998) (67)
- Cytogenetic and molecular studies of Down syndrome individuals with leukemia. (1995) (67)
- Genetic aspects of female reproduction. (2008) (67)
- Incidence and mutation rates of structural rearrangements of the autosomes in man (1972) (67)
- Cytogenetic Studies in Acute Leukaemia (1961) (66)
- Structural abnormalities of the sex chromosomes. (1969) (66)
- Maternal folate polymorphisms and the etiology of human nondisjunction. (2001) (65)
- Chronic myeloid leukaemia: cytogenetic studies before and after splenic irradiation. (1962) (64)
- Marker X syndrome in an oriental family with probable transmission by a normal male. (1982) (64)
- An inhertited X‐autosome translocation in man (1971) (64)
- Chromosomal sex in the syndrome of testicular feminisation. (1959) (64)
- The segregation of human chromosome polymorphisms (1976) (63)
- Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study (2010) (63)
- The effect of structural aberrations of the chromosomes on reproductive fitness in man (1975) (63)
- Origin of human trisomics and polyploids. (1977) (61)
- Studies on a family with three cytogenetic markers (1970) (60)
- The origin of the extra Y chromosome in males with a 47,XYY karyotype. (1999) (58)
- The incidence and etiology of sex chromosome abnormalities in man. (1979) (58)
- The inheritance of translocations in man: data from families ascertained through a balanced heterozygote (1970) (57)
- More on marker X chromosomes, mental retardation and macro-orchidism. (1979) (57)
- Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11 (2006) (57)
- Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation (2001) (56)
- CYTOGENETIC STUDIES IN BURKITT'S LYMPHOMA. (1963) (55)
- The origin of numerical chromosome abnormalities. (1995) (55)
- A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin (2000) (53)
- Linkage analysis suggests at least two loci for X-linked non-specific mental retardation. (1988) (52)
- A cytogenetic survey of an institution for the mentally retarded (1978) (52)
- Epidemiology of chromosome abnormalities in man. (1977) (51)
- Maternal age in trisomy (1988) (51)
- Fertility, reproductive outcomes, and health of offspring, of patients treated for Hodgkin's disease: an investigation including chromosome examinations. (1996) (51)
- Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines (2003) (50)
- Temporal changes in chromosome abnormalities in human spontaneous abortions: Results of 40 years of analysis (2016) (50)
- Further segregation analysis of the fragile X syndrome with special reference to transmitting males (2004) (50)
- The effect of structural aberrations of the chromosomes on reproductive fitness in man (1975) (50)
- Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man (2006) (49)
- Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. (2003) (49)
- Further information on the identity of 47,XYY males. (1968) (46)
- Molecular studies of trisomy 18. (1993) (46)
- A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions (2005) (45)
- Origin of sex chromosome aneuploidy (1988) (45)
- Complete hydatidiform mole in Hawaii: An epidemiological study (1984) (45)
- Acrocentric chromosome associations in man. (1976) (44)
- Nondisjunction of chromosome 21. (2005) (44)
- Functional disomy resulting from duplications of distal Xq in four unrelated patients (2004) (44)
- Practical and theoretical implications of fetal-maternal lymphocyte transfer. (1969) (44)
- The origin of human trisomy: a study of heteromorphisms and satellite associations (1981) (43)
- Chromosome surveys in penal institutions and approved schools. (1971) (43)
- Lateral asymmetry in human constitutive heterochromatin (1975) (41)
- De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age (2009) (40)
- Expression of the marker (X) (q28) in lymphoblastoid cell lines. (1982) (40)
- Pericentric inversion of a group C autosome: a study of three families (1968) (39)
- Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down’s syndrome? (1999) (38)
- A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities (2004) (38)
- Trisomy 13 ascertained in a survey of spontaneous abortions. (1987) (38)
- Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype (1999) (37)
- Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology. (1983) (37)
- Cytogenetics of abnormal sexual development in man. (1961) (36)
- Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals (2005) (35)
- The origin of trisomy 13 (2007) (35)
- A Systematic Search for Uniparental Disomy in Carriers of Chromosome Translocations (1994) (34)
- Chromosome anomalies as predictors of recurrence risk for spontaneous abortion. (1987) (33)
- A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients. (1994) (32)
- Molecular characterization of isochromosomes of Xq (1997) (32)
- Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1 (1974) (32)
- A study of mental retardation in children in the Island of Hawaii (1983) (32)
- Lateral asymmetry in human constitutive heterochromatin: frequency and inheritance. (1978) (31)
- Late replicating X chromosomes in human triploidy. (1979) (31)
- EVIDENCE FOR THE EXISTENCE OF THE HUMAN “SUPER FEMALE” (1960) (30)
- Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study (2007) (29)
- Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population (1996) (28)
- De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance (2011) (28)
- Studies of X-chromosome inactivation in trisomies. (1989) (28)
- Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. (1995) (27)
- Leukaemia and transient leukaemia in Down syndrome (1990) (27)
- Investigation of the origins of human autosomal inversions (2008) (27)
- A chromosome survey of a hospital for the mentally subnormal Part 1: Sex chromosome abnormalities (1972) (27)
- A centromere map of the X chromosome from trisomies of maternal origin (1990) (27)
- SOMATIC CHROMOSOMES IN A CHILD WITH BONNEVIE-ULLRICH SYNDROME (1959) (27)
- Molecular studies of the parental origin and nature of human X isochromosomes. (1989) (26)
- Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies (1998) (26)
- The parental origin of 47,XXY males. (1990) (26)
- Human chromosome heteromorphisms (variants). (1977) (25)
- A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities (2003) (25)
- Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype. (1992) (25)
- Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility. (2013) (25)
- The parental origin of the missing or additional chromosome in 45,X and 47,XXX females. (1990) (25)
- Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects (2005) (24)
- Age and Chromosomes (1966) (24)
- A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome (2004) (24)
- In vitro growth and chromosome constitution of placental cells. II. Hydatidiform moles. (1985) (23)
- A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes (2000) (23)
- The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis. (1990) (23)
- Studies of the fragile (X) syndrome in populations of mentally retarded individuals in Hawaii. (1986) (23)
- A chromosome survey of unselected live-born children with congenital abnormalities (1969) (23)
- Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes (2007) (22)
- Chromosome survey of new patients admitted to the four maximum security hospitals in the United Kingdom (1976) (22)
- Extended Data Figure 5 (2014) (22)
- A chromosome survey of unselected live-born children with congenital abnormalities. (1969) (21)
- Male breast cancer, age and sex chromosome aneuploidy (2013) (21)
- Seventh International Workshop on the Fragile X and X-linked Mental Retardation. (1996) (21)
- Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'. (1992) (20)
- The incidence of sex chromosomal abnormalities in mentally subnormal males. (1968) (20)
- X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X (2008) (20)
- An Investigation of FRAXA Intermediate Allele Phenotype in A Longitudinal Sample (2006) (20)
- A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study. (1992) (19)
- Molecular and cytogenetic analysis of a familial microdeletion of Xq. (1991) (19)
- A family with two translocations and a polymorphism involving chromosome 14. (1974) (18)
- The fragile (X) syndrome: the mutation problem. (1986) (18)
- Characterization and molecular analysis of nondisjunction in 18 cases of trisomy 21 and leukemia (1992) (18)
- FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability. (1998) (17)
- Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain (2005) (17)
- A reinvestigation of thirty three fragile(X) families using probe StB12.3. (1992) (17)
- Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction (2012) (16)
- Three patients with a 45,X/46,X,psu dic(Xp) karyotype. (1998) (16)
- Distribution of the D15Z1 copy number polymorphism (2007) (15)
- TRISOMIC CONDITION OF A LARGE CHROMOSOME (1960) (15)
- The recognition of human blood chimaeras. (1962) (14)
- CHROMOSOME STUDIES IN THE GENERAL POPULATION (1964) (14)
- Chromosome studies on male patients at a mental subnormality hospital (1971) (13)
- The fragile X syndrome. (1991) (13)
- Segregation of ACP1 and MNSs in families with structural rearrangements involving chromosome 2 (1975) (12)
- Structural chromosome abnormalities in Down syndrome: a study of two families. (1978) (12)
- Familial X/Y translocations associated with variable sexual phenotype (2004) (12)
- Fragile X syndrome: of POF and premutations (1999) (12)
- Fifth international workshop on fragile X and X-linked mental retardation. (1992) (11)
- Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome. (1990) (11)
- Chromosome mutations: Frequency at birth in humans (2004) (10)
- Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study (2008) (10)
- A cytogenetic study of 47, XXY males of known origin and their parents (1988) (10)
- The XYY Male (1968) (10)
- USE OF THE TERM " SUPERFEMALE " (1959) (9)
- The effect of methionine and 5-azacytidine on fragile X expression. (1985) (9)
- The meiotic process inmantis religiosa L. males (1957) (9)
- A cytogenetic study of a population of retarded females with special reference to the fragile(X) syndrome (2004) (9)
- A cytogenetic survey of an institution for the mentally retarded (1978) (9)
- Inversions and other unusual heteromorphisms detected by C-banding (1978) (9)
- Cytogenetic studies of couples with repeated spontaneous abortions of known karyotype (1988) (8)
- CHROMOSOME STUDIES IN LEUKÆMIA (1960) (8)
- Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study (2008) (7)
- Cytogenetic analysis of lymphoblastoid cell lines. (1986) (7)
- Cancer Subjects and Abnormal Cell Division (1962) (7)
- Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions (1987) (7)
- Premature ovarian failure and fragile X (1997) (7)
- Sex Chromosome Abnormalities in the Male (2013) (6)
- A comparison of fragile X expression in lymphocyte and lymphoblastoid cultures. (1986) (6)
- Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12) (2004) (6)
- In vitro growth and chromosome constitution of placental cells. I. Spontaneous and elective abortions. (1985) (6)
- The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years. (1982) (5)
- An opportune life: 50 years in human cytogenetics. (2014) (5)
- Sex chromosome aneuploidy and criminal behaviour. (1968) (5)
- Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction. (1997) (5)
- The origin of sex chromosome aneuploidy. (1989) (5)
- CHROMOSOME CONSTITUTION OF MONGOLS WITH LEUKAEMIA (1960) (5)
- The chromosome basis of some types of intersexuality in man. (1969) (5)
- Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4) (2009) (4)
- Letters to the EditorANTI-MONGOLISM (1966) (4)
- Reply: Mosaicism in Turner's syndrome (1997) (4)
- cytogenetic and molecular study (4)
- Cytogenetic studies of chromosome aberrations (1990) (4)
- Fragile (X) expression: Relationship to the cell cycle (2004) (4)
- Extended Data Table 1 (2014) (4)
- Stability and haplotype analysis of the FRAXE region (2000) (4)
- The origin of chromosome abnormalities in man (1981) (4)
- Retrospective and prospective epidemiological studies of 1,500 karyotyped spontaneous human abortions. (2013) (4)
- Incidence of circulating cells positive for GpIb and GpIIIa in infants with Down's syndrome (1994) (3)
- Recurrence risks for chromosome abnormalities. (1979) (3)
- Dorothy Warburton (1936-2016). (2016) (3)
- Chromatid associations in acrocentric chromosomes: evidence against nonrandomness. (1982) (3)
- LINE repeats are associated with the spread of X inactivation (2002) (3)
- Antenatal screening for Down syndrome: A quantitative demonstration of the improvements over the past 20 years (2013) (3)
- The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC). (2019) (3)
- A cytogenetic survey of an institution for the metnally retarded. III. Q-Band chromosome heteromorphisms. (1978) (3)
- A cytogenetic andmolecular study ofa series of45,X fetuses andtheir parents (2017) (2)
- Duchenne Muscular Dystrophy (DMD) in a Female with an X/Autosome Translocation: Further Evidence That the DMD Locus Is at Xp2l (2006) (2)
- Leukaemia Cases with Previous Radiotherapy (1961) (2)
- The 47,XYY male with special reference to behavior. (1970) (2)
- Human cytogenetic registers. A description of nine systems together with some recommendations. (1977) (2)
- ETIOLOGY OF LEUKEMIAS (1963) (2)
- ABNORMALITIES INVOLVING THE X CHROMOSOME IN WOMEN (1961) (2)
- Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. (2001) (2)
- Letters to the EditorCHROMOSOME STUDIES IN LEUKÆMIA (1961) (2)
- Martin-Bell syndrome (2)
- Human cytogenetic registers. A description of nine systems together with some recommendations. (1977) (2)
- The effect of caffeine on fragile X expression (1986) (2)
- The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC) (2020) (1)
- 407: Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia (2014) (1)
- Evidence fromTurner ’ s syndromeof an imprinted X-linked locusaffecting cognitive function (1997) (1)
- 2006 William Allan Award Address. Introductory speech for Dorothy Warburton. (2007) (1)
- Mosaicism in Turner's syndrome - Reply (1997) (1)
- Margareta Mikkelsen, 4 November 1923–28 June 2004 (2005) (0)
- Patricia Jacobs (2011) (0)
- Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction (2012) (0)
- The Genetical Society of Great Britain Abstracts of Papers given at the hundred and sixty-first meeting of the Society held on 14th and 15th November 1969 in the Botany Department of University College, London (1970) (0)
- Molecular and cytogenetic studies of spreading of X inactivation in four X;autosome translocations (2001) (0)
- Application of a sex chromosome tiling path BAC array for the CGH analysis of X and Y abnormalities (2006) (0)
- P.3.033 Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines (2003) (0)
- Mongols with Leukaemia (1960) (0)
- Polymorphism Involving Chromosome 14 (0)
- Book Review: New Books: Textbook of Biochemistry (1962) (0)
- of a familial microdeletion of Xq . Molecular and cytogenetic analysis (0)
- Trisomy13ascertained ina surveyofspontaneous abortions (1987) (0)
- Reproductive genetics Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure (2010) (0)
- Functional disomy resulting from duplications of distal Xq2 (2004) (0)
- Abstracts of the meeting of the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 30 and 31 March 1989 at the University of Southampton (1989) (0)
- Trisomy21:Association betweenReducedRecombination andNondisjunction (1991) (0)
- FRAXA and FRAXE in women with premature ovarian failure Table 2 Frequency of FRAXE alleles in the X chromosomes of 25 women with familial and 122 women with sporadic POF Allele Repeats Familial POF Sporadic POF Control (0)
- Studies of X-chromosome inactivation in trisomies (1989) (0)
- Molecular characterisation of interstitial duplications and triplications involving chromosome 15q11-q13 (2001) (0)
- Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB 12.3: The First 2,253 Cases (2007) (0)
- CYTOGENETIC AND MOLECULAR STUDIES OF NON-DISJUNCTION IN TRISOMY 13 (1987) (0)
- Cytogenetic andMolecular Studies ofDown Syndrome Individuals withLeukemia (1995) (0)
- Neuroanatomical effect of FMR1 gene mRNA in premutation carriers of Fragile X syndrome (2001) (0)
- Books Received (1962) (0)
- Cytogenetic andmolecular studies oftrisomy 13 (1987) (0)
- Developmental outcomes of children with an extra sex chromosome (2008) (0)
- AnAnalysis oftheBreak Points ofStructural (1974) (0)
- A Comparison ofFragile X Expression inLymphocyte andLymphoblastoid Cultures (1986) (0)
- X-chromosome imprinting and its potential influence upon sexual dimorphism in neurodevelopmental disorders: New evidence from structural brain imaging. (1999) (0)
- Response to Carothers' letter. (1979) (0)
- Extended Data Legend (2014) (0)
- Sex Chromosome Aneuploidy: XYY (2001) (0)
- A non-isotopic insitu hybridisation study ofthe chromosomal origin of15supernumerary marker chromosomes inman (1992) (0)
- A comparison oftheclinical andcytogenetic findings inninepatients witha ring(X)cell line and1645,Xpatients (1994) (0)
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