P. Jacobs

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Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

N. Carter, V. Maloney, J. Crolla, 2008, American journal of human genetics.

J. D. Baum, J. Crolla, P. Jacobs, 1995, Nature Genetics.

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

P. Hunt, P. Jacobs, R. Bart, 1981, American journal of human genetics.

Evidence for the existence of the human "super female".

P. Jacobs, A. Baikie, W. Brown, 1959, Lancet.

Cytogenetic and molecular studies of trisomy 13.

M. Leppert, P. Jacobs, T. Hassold, 1987, Journal of medical genetics.

The parental origin of the extra X chromosome in 47,XXX females.

A. Robinson, P. Jacobs, T. Hassold, 1990, American journal of human genetics.

Nondisjunction of chromosome 21.

P. Jacobs, T. Hassold, D. Kurnit, 2005, American journal of medical genetics. Supplement.

The parental origin of the missing or additional chromosome in 45,X and 47,XXX females.

P. Jacobs, T. Hassold, D. Robinson, 1990, Birth defects original article series.

Maternal folate polymorphisms and the etiology of human nondisjunction.

S. Schwartz, N. S. Thomas, P. Jacobs, 2001, American journal of human genetics.

A cytogenetic and molecular study of a series of 45,X fetuses and their parents.

P. Jacobs, A. Cockwell, M. Mackenzie, 1991, Journal of medical genetics.

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function

P. A. Jacobs, D. Skuse, P. Jacobs, 1997, Nature.

Studies of X-chromosome inactivation in trisomies.

B. Migeon, P. Jacobs, 1989, Cytogenetics and cell genetics.

Probable Assignment of the Alpha Locus of Haptoglobin to Chromosome 16 in Man

P. Jacobs, P. Polani, J. Renwick, 1969, Nature.

Distinctive patterns of memory function in subgroups of females with Turner syndrome: evidence for imprinted loci on the X-chromosome affecting neurodevelopment

D. Skuse, P. Jacobs, K. Elgar, 2000, Neuropsychologia.

Marker X syndrome in an oriental family with probable transmission by a normal male.

P. Jacobs, M. Mayer, F. Rhoads, 1982, American journal of medical genetics.

Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.

B. Migeon, J. Axelman, P. Jacobs, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype

D. Skuse, P. Jacobs, C. Turner, 1999, Human Genetics.

X chromosome loss and ageing

P. Jacobs, L. M. Russell, C. Browne, 2007, Cytogenetic and Genome Research.

An Investigation of FRAXA Intermediate Allele Phenotype in A Longitudinal Sample

N. Morton, S. Ring, M. Pembrey, 2006, Annals of human genetics.

Chromosome anomalies as predictors of recurrence risk for spontaneous abortion.

N. Morton, P. Jacobs, D. Chiu, 1987, American journal of medical genetics.

Characterisation of interstitial duplications and triplications of chromosome 15q11–q13

L. Willatt, P. Jacobs, Simon N. Thomas, 2002, Human Genetics.

Cancer Incidence and Mortality in Men With Klinefelter Syndrome: A Cohort Study

A. Swerdlow, M. Schoemaker, A. Wright, 2006 .

The efficacy of maternal age screening for Down's syndrome in Wessex

P. Jacobs, S. Youings, N. Gregson, 1991, Prenatal diagnosis.

Antenatal screening for Down syndrome: A quantitative demonstration of the improvements over the past 20 years

P. Jacobs, J. Morris, R. Renshaw, 2013, Journal of health services research & policy.

Human chromosome heteromorphisms (variants).

P. Jacobs, 1977, Progress in medical genetics.

The fragile (X) syndrome: the mutation problem.

P. Jacobs, G. Turner, S. Sherman, 1986, American journal of medical genetics.

Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.

G. Lathrop, R. Heilig, P. Jacobs, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review

K. Nation, P. Jacobs, V. Leggett, 2010, Developmental medicine and child neurology.

Studies on a family with three cytogenetic markers

P. Jacobs, E. Robson, P. Cook, 1970 .

Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines

J. Crolla, P. Jacobs, D. Baldwin, 2003 .

P.3.033 Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines

J. Crolla, P. Jacobs, D. Baldwin, 2003, European Neuropsychopharmacology.

A study of mental retardation in children in the Island of Hawaii

P. Jacobs, M. Mayer, R. Proops, 1983, Clinical genetics.

A cytogenetic study of a population of retarded females with special reference to the fragile(X) syndrome

P. Jacobs, M. Mayer, M. Abruzzo, 2004, Human Genetics.

Maternal uniparental disomy for chromosome 14.

E. Zackai, G. Reifenberger, T. Dierks, 1991, Journal of medical genetics.

The effect of structural aberrations of the chromosomes on reproductive fitness in man

N. Morton, P. Jacobs, P. Law, 1975, Clinical genetics.

Structural Abnormalities of the Y Chromosome in Man

P. Jacobs, A. Ross, 1966, Nature.

X-linked mental retardation: a study of 7 families.

P. Jacobs, T. Glover, H. G. Dunn, 1980, American journal of medical genetics.

Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology

P. Jacobs, J. Matsuura, A. E. Szulman, 1982 .

Complete hydatidiform mole in Hawaii: An epidemiological study

D. Rao, P. Jacobs, J. Matsuura, 1984, Genetic epidemiology.

Aggressive Behaviour, Mental Sub-normality and the XYY Male

P. Jacobs, R. Brittain, M. Brunton, 1965, Nature.

Distribution of Human Chromosome Counts in Relation to Age

R. Doll, P. Jacobs, W. Brown, 1961, Nature.

Fragile X premutations in familial premature ovarian failure

P. Jacobs, A. Murray, G. Conway, 1995, The Lancet.

A centromere map of the X chromosome from trisomies of maternal origin

N. Morton, P. Jacobs, B. Keats, 1990, Annals of human genetics.

A cytogenetic study of 47, XXY males of known origin and their parents

N. Morton, P. Jacobs, T. Hassold, 1988, Annals of human genetics.

Seventh International Workshop on the Fragile X and X-linked Mental Retardation.

H. Willard, C. Schwartz, W. Brown, 1996, American journal of medical genetics.

A cytogenetic survey of an institution for the mentally retarded

P. Jacobs, M. Mayer, J. Matsuura, 1978, Human Genetics.

Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalities

P. Jacobs, M. Newton, I. A. Fraser, 1972, Clinical genetics.

A chromosome survey of a hospital for the mentally subnormal Part 1: Sex chromosome abnormalities

P. Jacobs, M. Newton, W. Price, 1972, Clinical genetics.

Chromosome studies on male patients at a mental subnormality hospital

P. Jacobs, J. Aitken, M. Brunton, 1971, Clinical genetics.

Duchenne Muscular Dystrophy (DMD) in a Female with an X/Autosome Translocation: Further Evidence That the DMD Locus Is at Xp2l

P. Hunt, P. Jacobs, R. Bart, 2006 .

The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis.

P. Jacobs, I. Craig, D. Robinson, 1990, Genetical research.

The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC)

S. Ring, M. Pembrey, P. Jacobs, 2020, Wellcome open research.

The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC).

S. Ring, M. Pembrey, P. Jacobs, 2019, Wellcome open research.

Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia

P. Jacobs, S. Hammans, J. Macpherson, 2003, Human Genetics.

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

N. S. Thomas, P. Jacobs, M. Durkie, 2006, Human Genetics.

Epidemiology of chromosome abnormalities in man.

P. Jacobs, PatriciaA. Jacobs, 1977, American journal of epidemiology.

Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009

P. Jacobs, D. Mutton, E. Alberman, 2012, American journal of medical genetics. Part A.

Interpretation of chromosome counts made on bone-marrow cells.

R. Doll, P. Jacobs, W. M. COURT BROWN, 1960, Lancet.

Is the prevalence of Klinefelter syndrome increasing?

P. Jacobs, E. Alberman, J. Morris, 2008, European Journal of Human Genetics.

Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes

N. Morton, P. Jacobs, A. Murray, 2007, Human mutation.

Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB 12.3: The First 2,253 Cases

P. Jacobs, D. Schorderet, F. Rousseau, 2007 .

Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes

P. Jacobs, T. Hassold, M. Lee, 1988, Annals of human genetics.

Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction.

N. Morton, P. Jacobs, J. Harvey, 1995, American journal of human genetics.

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

A. Ashworth, N. Orr, A. Swerdlow, 2013, Genetics in Medicine.

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

P. Jacobs, A. Murray, S. Youings, 1996, Human molecular genetics.

The inheritance of translocations in man: data from families ascertained through a balanced heterozygote

P. Jacobs, P. Law, A. Frąckiewicz, 1970, Annals of human genetics.

Male breast cancer, age and sex chromosome aneuploidy

A. Ashworth, V. Maloney, J. Crolla, 2013, British Journal of Cancer.

Studies of FRAXA and FRAXE in women with premature ovarian failure.

P. Jacobs, A. Murray, G. Conway, 1998, Journal of medical genetics.

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.

P. Jacobs, S. Youings, J. Macpherson, 1994, Human molecular genetics.

Studies of the fragile (X) syndrome in populations of mentally retarded individuals in Hawaii.

P. Jacobs, M. Mayer, M. Abruzzo, 1986, American journal of medical genetics.

A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome

D. Skuse, J. Crolla, P. Jacobs, 1999, Journal of medical genetics.

A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

J. Crolla, P. Jacobs, N. Dennis, 1992, Journal of medical genetics.

Chromosomal sex in the syndrome of testicular feminisation.

P. Jacobs, A. Baikie, B. Lennox, 1959, Lancet.

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)

J. Crolla, P. Jacobs, Simon N. Thomas, 2004, American journal of medical genetics. Part A.

Familial X/Y translocations associated with variable sexual phenotype

P. Jacobs, A. Sharp, J. Jaruzelska, 2004, Journal of Medical Genetics.

Trisomy 21: association between reduced recombination and nondisjunction.

P. Jacobs, T. Hassold, M. Mikkelsen, 1991, American journal of human genetics.

Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns

P. Jacobs, T. Hassold, P. Rogan, 1994, Human Genetics.

FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.

N. Morton, P. Jacobs, A. Murray, 1998, Proceedings of the National Academy of Sciences of the United States of America.

X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X

B. Migeon, P. Jacobs, G. Stetten, 2008, European Journal of Human Genetics.

Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole

P. Jacobs, J. Matsuura, A. E. Szulman, 1982, Annals of human genetics.

The origin of human triploids

P. Jacobs, T. Hassold, A. Matsuyama, 1978, Annals of human genetics.

Inversions and other unusual heteromorphisms detected by C-banding

P. Jacobs, M. Mayer, J. Matsuura, 1978, Human Genetics.

A family with two translocations and a polymorphism involving chromosome 14.

P. Jacobs, S. Christie, K. Buckton, 1974, Journal of medical genetics.

Polymorphism Involving Chromosome 14

P. Jacobs, K. Buckton, M. Newton, 2022 .

Aging and aneuploidy: evidence for the preferential involvement of the inactive X chromosome.

P. Jacobs, M. Mayer, M. Abruzzo, 1985, Cytogenetics and cell genetics.

Chromosome surveys in penal institutions and approved schools.

P. Jacobs, Richmond, W. Price, 1971, Journal of medical genetics.

The recognition of human blood chimaeras.

P. Jacobs, M. Woodruff, K. Buckton, 1962, Lancet.

Segmental aneuploidy and the genetic gross structure of the Drosophila genome.

B. S. Baker, B. K. Davis, G. L. Miklos, 1972, Genetics.

Trisomy 13 ascertained in a survey of spontaneous abortions.

P. Jacobs, T. Hassold, N. Takaesu, 1987, Journal of medical genetics.

Mechanism of origin of complete hydatidiform moles

Patricia A. Jacobs, B. Migeon, P. Jacobs, 1980, Nature.

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.

P. Jacobs, C. Joyce, C. Browne, 1992, Journal of medical genetics.

Abnormalities of the Sex-Chromosome Complement in Man

P. Jacobs, N. Maclean, D. Harnden, 1964, Nature.

Fragile X premutation screening in women with premature ovarian failure.

P. Jacobs, A. Murray, G. Conway, 1998, Human reproduction.

Leukaemia and transient leukaemia in Down syndrome

N. Morton, P. Jacobs, L. Iselius, 1990, Human Genetics.

Cytogenetic Studies in Acute Leukaemia

P. Jacobs, A. Baikie, J. McBride, 1961, British medical journal.

Cytogenetic studies in chronic myeloid leukaemia and acute leukaemia associated with monogolism.

P. Jacobs, A. Baikie, D. Harnden, 1961, Lancet.

Chromosome studies in human leukaemia.

P. Jacobs, A. Baikie, W. Brown, 1959, Lancet.

Human Somatic Chromosomes

C. E. Ford, L. Lajtha, P. Jacobs, 1958, Nature.

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.

A. Collins, P. Jacobs, A. Cockwell, 1994, Journal of medical genetics.

Three patients with ring (X) chromosomes and a severe phenotype.

J. Crolla, A. Collins, P. Jacobs, 1993, Journal of medical genetics.

A study of the chromosome damage persisting after x-ray therapy for ankylosing spondylitis.

R. Doll, P. Jacobs, W. Brown, 1962, Lancet.

Mortality in women with turner syndrome in Great Britain: a national cohort study.

A. Swerdlow, M. Schoemaker, A. Wright, 2008, The Journal of clinical endocrinology and metabolism.

Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study.

A. Swerdlow, M. Schoemaker, A. Wright, 2008, The Lancet. Oncology.

A Possible Specific Chromosome Abnormality in Human Chronic Myeloid Leukæmia

P. Jacobs, A. Baikie, D. Harnden, 1960, Nature.

Abnormalities involving the X chromosome in women.

J. A. Strong, P. Jacobs, W. Brown, 1960, Lancet.

A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism

P. Jacobs, PATRICIA A. JACOBS, J. A. STRONG, 1959, Nature.

Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study.

A. Swerdlow, M. Schoemaker, A. Wright, 2005, Journal of the National Cancer Institute.

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

N. S. Thomas, P. Jacobs, K. Lachlan, 2005, Human Genetics.

The origin of the extra Y chromosome in males with a 47,XYY karyotype.

P. Jacobs, D. Robinson, 1999, Human molecular genetics.

Structural abnormalities of the sex chromosomes.

P. Jacobs, 1969, British medical bulletin.

Cytogenetic studies in primary amenorrhoea.

P. Jacobs, W. Brown, T. Macgregor, 1961, Lancet.

Cytogenetic studies in leucocytes on the general population: subjects of ages 65 years and more

P. Jacobs, W. Brown, P A JACOBS, 1963, Annals of human genetics.

Turner syndrome: a cytogenetic and molecular study

D. Skuse, P. Jacobs, R. James, 1997, Annals of human genetics.

Direct analysis of the chromosome constitution of human spermatozoa

P. Jacobs, E. Rudak, R. Yanagimachi, 1978, Nature.

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome

J. Crolla, P. Jacobs, P. Betts, 1990, Annals of human genetics.

Change of Human Chromosome Count Distributions with Age: Evidence for a Sex Difference

R. Doll, P. Jacobs, H. Goldstein, 1963, Nature.

A cytogenetic survey of 11,680 newborn infants

P. Jacobs, S. Ratcliffe, J. Syme, 1974, Annals of human genetics.

Practical and theoretical implications of fetal-maternal lymphocyte transfer.

P. Jacobs, P. Smith, 1969, Lancet.

CHRONIC MYELOID LEUKÆMIA: CYTOGENETIC STUDIES BEFORE AND AFTER SPLENIC IRRADIATION

P. Jacobs, A. Baikie, D. Harnden, 1962 .

A cytogenetic study of spontaneous abortions in Hawaii

P. Jacobs, T. Hassold, A. Matsuyama, 1978, Annals of human genetics.

Translocation heterozygosity and associated subfertility in man.

P. Jacobs, S. Christie, A. Chandley, 1972, Cytogenetics.

The somatic chromosomes in mongolism.

J. A. Strong, P. Jacobs, A. Baikie, 1959, Lancet.

TRISOMIC CONDITION OF A LARGE CHROMOSOME

P. Jacobs, A. Baikie, W. Brown, 1960 .

Chromosome studies on randomly chosen men and women.

P. Jacobs, W. Brown, M. Brunton, 1965, Lancet.

SOMATIC CHROMOSOMES IN A CHILD WITH BONNEVIE-ULLRICH SYNDROME

P. Jacobs, A. Keay, 1959 .

Cytogenetic studies on bone-marrow in chronic myeloid leukaemia.

P. Jacobs, A. Baikie, E. Williamson, 1963, Lancet.

Pericentric inversion of a group C autosome: a study of three families

P. Jacobs, H. Harris, E. Robson, 1968, Annals of human genetics.

A survey of sex chromatin abnormalities in mental hospitals.

J. A. Strong, P. Jacobs, W. Brown, 1968, Journal of medical genetics.

Cytogenetics of abnormal sexual development in man.

P. Jacobs, D. Harnden, 1961, British medical bulletin.

An opportune life: 50 years in human cytogenetics.

P. Jacobs, 2014, Annual review of genomics and human genetics.

CYTOGENETIC STUDIES IN BURKITT'S LYMPHOMA.

P. Jacobs, D. Wright, I. Tough, 1963, Lancet.

A chromosome survey of unselected live-born children with congenital abnormalities.

P. Jacobs, A. Stewart, M. Melville, 1969, The Journal of pediatrics.

Cytogenetic and molecular studies of Down syndrome individuals with leukemia.

P. Jacobs, A. Zipursky, T. Hassold, 1995, American journal of human genetics.

The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination.

N E Morton, N. Morton, M. MacDonald, 1994, Human molecular genetics.

Trisomy in man.

P. Jacobs, T. Hassold, 1984, Annual review of genetics.

Origin of sex chromosome aneuploidy

N. Morton, P. Jacobs, D. Wu, 1988, Annals of human genetics.

The chromosome complement of human gametes.

P. Jacobs, 1992, Oxford reviews of reproductive biology.

The parental origin of 47,XXY males.

P. Jacobs, T. Hassold, D. Pettay, 1990, Birth defects original article series.

Chromosome mutations: Frequency at birth in humans

P. Jacobs, 2004, Humangenetik.

A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities

J. Barber, P. Jacobs, S. Ennis, 2004, American journal of medical genetics. Part A.

The effect of structural aberrations of the chromosomes on reproductive fitness in man

N. Morton, P. Jacobs, P. Law, 1975, Clinical genetics.

4 The Origin of Numerical Chromosome Abnormalities

P. Jacobs, T. Hassold, 1995 .

The origin of numerical chromosome abnormalities.

P. Jacobs, T. Hassold, 1995, Advances in genetics.

XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region.

D. Page, P. Jacobs, T. Hassold, 1991, American journal of human genetics.

Chromosome Abnormalities: Origin and Etiology in Abortions and Livebirths

P. Jacobs, T. Hassold, 1987 .

Mutation rates of structural chromosome rearrangements in man.

P. Jacobs, 1981, American journal of human genetics.

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

P. Jacobs, A. Murray, G. Conway, 2022 .

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Shuwen Huang, C. Mercer, N. S. Thomas, 2013, European journal of medical genetics.

A study of females with deletions of the short arm of the X chromosome

D. Skuse, A. Sharp, N. S. Thomas, 1998, Human Genetics.

Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study

V. Beral, A. Swerdlow, P. Jacobs, 2001 .

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

A. Sharp, P. Jacobs, D. Robinson, 2000, Human Genetics.

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

K. Davies, R. Winter, P. Jacobs, 1991, Cell.

The effect of caffeine on fragile X expression

P. Jacobs, M. Mayer, D. Pettay, 1986, Human Genetics.

Genetic aspects of female reproduction.

P. Jacobs, L. Gianaroli, E. Diczfalusy, 2008, Human reproduction update.

Distribution of the D15Z1 copy number polymorphism

J. Crolla, P. Jacobs, A. Cockwell, 2007, European Journal of Human Genetics.

Investigation of the origins of human autosomal inversions

V. Maloney, N. S. Thomas, P. Jacobs, 2008, Human Genetics.

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance

J. Crolla, N. S. Thomas, P. Jacobs, 2011, European Journal of Human Genetics.

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age

B. Ng, J. Crolla, J. Baptista, 2009, Journal of Medical Genetics.

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

R. Sandford, N. S. Thomas, P. Jacobs, 2006, European Journal of Human Genetics.

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

J. Crolla, P. Jacobs, S. Ennis, 2005, European Journal of Human Genetics.

Functional disomy resulting from duplications of distal Xq in four unrelated patients

R. Sandford, N. S. Thomas, P. Jacobs, 2004, Human Genetics.

Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

J. Crolla, N. S. Thomas, P. Jacobs, 2003, American journal of human genetics.

Three patients with a 45,X/46,X,psu dic(Xp) karyotype.

D. Skuse, P. Jacobs, R. James, 1998, Journal of medical genetics.

Temporal changes in chromosome abnormalities in human spontaneous abortions: Results of 40 years of analysis

P. Jacobs, T. Hassold, P. Hardy, 2016, American journal of medical genetics. Part A.

A comparison of fragile X expression in lymphocyte and lymphoblastoid cultures.

P. Hunt, P. Jacobs, R. Erbe, 1986, American journal of human genetics.

More on marker X chromosomes, mental retardation and macro-orchidism.

P. Jacobs, H. Hoehn, E. Rudak, 1979, The New England journal of medicine.

Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.

A. Sharp, N. S. Thomas, P. Jacobs, 2001, Human molecular genetics.

An Analysis of the Break Points of Structural Rearrangements in Man

P. Jacobs, K. Buckton, M. Newton, 1974, Journal of medical genetics.

The role of chromosome abnormalities in reproductive failure.

P. Jacobs, 1990, Reproduction, nutrition, development.

The chromosome basis of some types of intersexuality in man.

P. Jacobs, 1969, Journal of reproduction and fertility. Supplement.

Molecular studies of trisomy 18.

P. Jacobs, J. Harvey, P. Boyd, 1993, American journal of human genetics.

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)

Shuwen Huang, V. Maloney, N. S. Thomas, 2009, Human Genetics.

Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1

P. Jacobs, P. Polani, E. Robson, 1974, Annals of human genetics.

Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects

W. Tapper, P. Jacobs, A. Sharp, 2005, Journal of Medical Genetics.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

P. Bolton, N. S. Thomas, P. Jacobs, 2001, American journal of medical genetics.

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

N. Carter, J. Crolla, S. Gribble, 2005, European Journal of Human Genetics.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

N. Carter, R. Sandstrom, H. Fiegler, 2005, Journal of Medical Genetics.

The marker (X) syndrome: a cytogenetic and genetic analysis

N. Morton, P. Jacobs, G. Turner, 1984, Annals of human genetics.

Expression of the marker (X) (q28) in lymphoblastoid cell lines.

P. Hunt, P. Jacobs, G. Boss, 1982, American journal of human genetics.

A Systematic Search for Uniparental Disomy in Carriers of Chromosome Translocations

P. Jacobs, C. Patch, T. Hassold, 1994, European journal of human genetics : EJHG.

A cytogenetic study of 1000 spontaneous abortions

P. Jacobs, T. Hassold, J. Yamane, 1980, Annals of human genetics.

Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology.

P. Hunt, P. Jacobs, J. Matsuura, 1983, British journal of obstetrics and gynaecology.

Origin of human trisomics and polyploids.

N. Morton, P. Jacobs, 1977, Human Heredity.

Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies

P. Jacobs, R. James, D. Pettay, 1998, European Journal of Human Genetics.

The origin of human trisomy: a study of heteromorphisms and satellite associations

P. Jacobs, M. Mayer, 1981, Annals of human genetics.

Late replicating X chromosomes in human triploidy.

P. Jacobs, A. Matsuyama, C. Wilson, 1979, American journal of human genetics.

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

N. Carter, H. Fiegler, J. Crolla, 2003, Journal of Medical Genetics.

Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations.

A. Sharp, B. Turner, P. Jacobs, 2002, Human molecular genetics.

Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation

A. Sharp, P. Jacobs, D. Robinson, 2001, Human Genetics.

Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study

A. Swerdlow, M. Schoemaker, A. Wright, 2008, British Journal of Cancer.

Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study

A. Swerdlow, M. Schoemaker, A. Wright, 2008, Human Genetics.

A non-isotopic insitu hybridisation study ofthe chromosomal origin of15supernumerary marker chromosomes inman

P. Jacobs, 1992 .

Incidence and mutation rates of structural rearrangements of the autosomes in man

P. Jacobs, P. Law, A. Frąckiewicz, 1972, Annals of human genetics.

Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions

P. Jacobs, T. Hassold, D. Pettay, 1987, Human Genetics.

Retrospective and prospective epidemiological studies of 1,500 karyotyped spontaneous human abortions.

P. Jacobs, 2013, Birth defects research. Part A, Clinical and molecular teratology.

The origin of trisomy 13

U. Surti, P. Jacobs, T. Hassold, 2007, American journal of medical genetics. Part A.

In vitro growth and chromosome constitution of placental cells. I. Spontaneous and elective abortions.

P. Hunt, P. Jacobs, 1985, Cytogenetics and cell genetics.

In vitro growth and chromosome constitution of placental cells. II. Hydatidiform moles.

P. Hunt, P. Jacobs, 1985, Cytogenetics and cell genetics.

Chromosome survey of new patients admitted to the four maximum security hospitals in the United Kingdom

P. Jacobs, W. Price, Karin Buckton, 1976, Clinical genetics.

Further information on the identity of 47,XYY males.

P. Jacobs, W. Brown, W. Price, 1968, British medical journal.

The effect of methionine and 5-azacytidine on fragile X expression.

P. Jacobs, M. Mayer, M. Abruzzo, 1985, American journal of human genetics.

The segregation of human chromosome polymorphisms

H. J. Evans, G. Spowart, P. Jacobs, 1976, Annals of human genetics.

Is disomic homozygosity at the APECED locus the cause of increased autoimmunity in Down’s syndrome?

P. Jacobs, T. Hassold, J. Shield, 1999, Archives of disease in childhood.

Chromosome studies on men in a Maximum Security Hospital

P. Jacobs, W. Brown, W. Price, 1968 .

Chromosome studies on 3500 newborn male infants.

P. Jacobs, A. Stewart, S. Ratcliffe, 1970, Lancet.

Fertility, reproductive outcomes, and health of offspring, of patients treated for Hodgkin's disease: an investigation including chromosome examinations.

J. Barber, A. Swerdlow, P. Jacobs, 1996, British Journal of Cancer.

Fragile (X) expression: Relationship to the cell cycle

P. Jacobs, E. S. Cantú, 2004, Human Genetics.

A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome

P. Jacobs, M. Mayer, F. Rhoads, 2004, Human Genetics.

The meiotic process inmantis religiosa L. males

P. Jacobs, H. G. Callan, 1957, Journal of Genetics.

Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction

A. Sharp, S. Eliez, N. S. Thomas, 2012, Human Genetics.

Incidence of circulating cells positive for GpIb and GpIIIa in infants with Down's syndrome

P. Jacobs, A. Cockwell, A. Fisher, 1994, European journal of haematology.

Molecular and cytogenetic analysis of a familial microdeletion of Xq.

P. Jacobs, D. Robinson, S. Mould, 1991, Journal of medical genetics.

A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.

J. Crolla, P. Jacobs, M. Mackenzie, 1992, Journal of medical genetics.

cytogenetic and molecular study

J. Crolla, P. Jacobs, J. Starr, 2022 .

of a familial microdeletion of Xq . Molecular and cytogenetic analysis

P. Jacobs, D. Robinson, S. Mould, 2022 .

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

N. E. Morton, P. A. Jacobs, N. Morton, 2004, Human Genetics.

LINE repeats are associated with the spread of X inactivation

A. Sharp, W. Tapper, P. Jacobs, 2002 .

An inhertited X‐autosome translocation in man

P. Jacobs, R. Sanger, K. Buckton, 1971, Annals of human genetics.

Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain

A. Swerdlow, M. Schoemaker, A. Wright, 2005, Human Genetics.

Mortality in patients with Klinefelter syndrome in Britain: a cohort study.

A. Swerdlow, M. Schoemaker, A. Wright, 2005, The Journal of clinical endocrinology and metabolism.

Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population

P. Jacobs, R. James, 1996, Human Genetics.

CHROMOSOME STUDIES IN THE GENERAL POPULATION

P. Jacobs, 1964 .

Correlation between euploid structural chromosome rearrangements and mental subnormality in humans

P. Jacobs, 1974, Nature.

Lateral asymmetry in human constitutive heterochromatin: frequency and inheritance.

P. Jacobs, R. Angell, 1978, American journal of human genetics.

Characterization and molecular analysis of nondisjunction in 18 cases of trisomy 21 and leukemia

P. Jacobs, A. Zipursky, T. Hassold, 1992, Genes, chromosomes & cancer.

A chromosome survey of unselected live-born children with congenital abnormalities.

P. Jacobs, A. Stewart, M. Melville, 1969, The Journal of pediatrics.

The incidence of sex chromosomal abnormalities in mentally subnormal males.

P. Jacobs, W. Price, A. Goonetilleke, 1968, Cytogenetics.

C‐ and Q‐band polymorphisms in the chromosomes of three human populations

H. J. Evans, P. Jacobs, H. Evans, 1976, Annals of human genetics.

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

E. Eichler, D. Nelson, P. Jacobs, 1996, Human molecular genetics.

Autism, language and communication in children with sex chromosome trisomies

Dorothy V M Bishop, Angela Barnicoat, Kate Nation, 2010, Archives of Disease in Childhood.

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

N. Morton, M. Pembrey, R. Winter, 2004, Human Genetics.

Population studies of the fragile X: a molecular approach.

P. Jacobs, S. Youings, A. Watson, 1993, Journal of medical genetics.

Structural chromosome abnormalities in Down syndrome: a study of two families.

P. Jacobs, E. Rudak, M. Mayer, 1978, Cytogenetics and cell genetics.

Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study

A. Swerdlow, M. Schoemaker, A. Wright, 2007, Human Genetics.

Lateral asymmetry in human constitutive heterochromatin

P. Jacobs, R. Angell, 1975, Chromosoma.

Letters to the EditorANTI-MONGOLISM

L. Penrose, P. Jacobs, W. Brown, 1966 .

A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities

J. Crolla, P. Jacobs, A. Cockwell, 2003, Human Genetics.

Molecular characterization of isochromosomes of Xq

H. Willard, P. Jacobs, R. James, 1997, Annals of human genetics.

Molecular studies of the parental origin and nature of human X isochromosomes.

P. Jacobs, T. Hassold, C. Kobryn, 1989, Cytogenetics and cell genetics.

Acrocentric chromosome associations in man.

N. Morton, P. Jacobs, M. Mayer, 1976, American Journal of Human Genetics.

FRAXA and FRAXE: the results of a five year survey

P. Jacobs, A. Murray, S. Ennis, 2000, Journal of medical genetics.

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

P. Jacobs, J. Mandel, A. Hanauer, 1988, American journal of medical genetics.

CHROMOSOME STUDIES IN LEUKÆMIA

P. Jacobs, A. Baikie, W. Brown, 1960 .

The incidence and etiology of sex chromosome abnormalities in man.

P. Jacobs, 1979, Birth defects original article series.

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.

N. Morton, P. Jacobs, A. Murray, 1997, Human Molecular Genetics.

Stability and haplotype analysis of the FRAXE region

N. Morton, P. Jacobs, A. Murray, 2000, European Journal of Human Genetics.

A cytogenetic andmolecular study ofa series of45,X fetuses andtheir parents

P. Jacobs, A. Cockwell, S. Youings, 2017 .

Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study

A. Ashworth, J. Perry, M. Weedon, 2010, Human molecular genetics.

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.

P. Jacobs, A. Murray, G. Conway, 2010, Human reproduction.

A cytogenetic survey of an institution for the mentally retarded

P. Jacobs, M. Mayer, J. Matsuura, 1978, Human Genetics.

The origin of chromosome abnormalities in man

P. Jacobs, 1981 .

Evidence fromTurner ’ s syndromeof an imprinted X-linked locusaffecting cognitive function

D. Skuse, P. Jacobs, D. Bishop, 1997 .

Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome.

P. Jacobs, T. Webb, 1990, Journal of medical genetics.

Martin-Bell syndrome

P. Jacobs, T. Webb, 2022 .

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

B. Migeon, K. Davies, J. Crolla, 1995, Journal of medical genetics.

Cytogenetic studies of couples with repeated spontaneous abortions of known karyotype

D. Rao, P. Jacobs, T. Hassold, 1988, Genetic epidemiology.

A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes

D. Skuse, P. Jacobs, B. Coppin, 2000, Annals of human genetics.

Segregation of ACP1 and MNSs in families with structural rearrangements involving chromosome 2

P. Jacobs, J. Lindsten, M. Hultén, 1975, Annals of human genetics.

Reproductive genetics Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

P. Jacobs, A. Murray, G. Conway, 2010 .

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.

P. Jacobs, J. Macpherson, N. Dennis, 1992, American journal of medical genetics.

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

W. Brown, P. Jacobs, D. Chitayat, 1999, American journal of medical genetics.

Fragile X syndrome: of POF and premutations

P. Jacobs, A. Murray, J. Webb, 1999, Journal of medical genetics.

A reinvestigation of thirty three fragile(X) families using probe StB12.3.

P. Jacobs, F. Rousseau, T. Webb, 1992, American journal of medical genetics.

The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years.

P. Jacobs, 1982, American journal of human genetics.

Recurrence risks for chromosome abnormalities.

P. Jacobs, 1979, Birth defects original article series.

CHROMOSOME CONSTITUTION OF MONGOLS WITH LEUKAEMIA

P. Jacobs, A. Baikie, W. Brown, 1960 .

A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin

N. S. Thomas, P. Jacobs, T. Hassold, 2000, European Journal of Human Genetics.

An Analysis of the Break Points of Structural Rearrangements in Man

P. Jacobs, K. Buckton, M. Newton, 1974, Journal of medical genetics.

Age and Chromosomes

P. Jacobs, W. Brown, 1966, Nature.

Patients with drinking problems.

P. Jacobs, W. Brown, W. Price, 1968, British medical journal.

Cancer Subjects and Abnormal Cell Division

R. Doll, P. Jacobs, W. Brown, 1962, Nature.

Maternal age in trisomy

N. Morton, P. Jacobs, T. Hassold, 1988, Annals of human genetics.

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

N. Carter, H. Fiegler, J. Crolla, 2003, Journal of medical genetics.