FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Patricia Jacobs

Research Profile

Disorders

Anatomy

Procedures

Physiology

Concepts & Ideas

Living Beings

Co-author Network

Publications

TOP 3
Catherine L Mercer; Nabeel Affara; Shuwen Huang; Patricia A Jacobs; Alexandra Karcanias; Katherine Lachlan; N Simon Thomas
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.
N Simon Thomas; Joan K Morris; Julia Baptista; Bee Ling Ng; John A Crolla; Patricia A Jacobs
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.
N Simon Thomas; Vivienne Maloney; Victoria Bryant; Shuwen Huang; Carole Brewer; Katherine Lachlan; Patricia A Jacobs
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).

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Patricia Jacobs (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Catherine L Mercer; Nabeel Affara; Shuwen Huang; Patricia A Jacobs; Alexandra Karcanias; Katherine Lachlan; N Simon Thomas
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.
European journal of medical genetics 2013;56(1):1-6.
2010: N Simon Thomas; Joan K Morris; Julia Baptista; Bee Ling Ng; John A Crolla; Patricia A Jacobs
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.
Journal of medical genetics 2010;47(2):112-5.
2009: N Simon Thomas; Vivienne Maloney; Victoria Bryant; Shuwen Huang; Carole Brewer; Katherine Lachlan; Patricia A Jacobs
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).
Human genetics 2009;125(2):181-8.
2008: N Simon Thomas; Victoria Bryant; Vivienne Maloney; Annette E Cockwell; Patricia A Jacobs
Investigation of the origins of human autosomal inversions.
Human genetics 2008;123(6):607-16.
2008: Julia Baptista; Catherine Mercer; Elena Prigmore; Susan M Gribble; Nigel P Carter; Vivienne Maloney; N Simon Thomas; Patricia A Jacobs; John A Crolla
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
American journal of human genetics 2008;82(4):927-36.
2007: Sarah Ennis; A Murray; G Brightwell; Newton E Morton; Patricia A Jacobs
Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.
Human mutation 2007;28(12):1216-24.
2007: Patricia A Jacobs
2006 William Allan Award Address. Introductory speech for Dorothy Warburton.
American journal of human genetics 2007;81(4):646-7.
2007: Heather E Hall; Ernest R Chan; ANDREW COLLINS; LuAnn Judis; Sofia Shirley; Urvashi Surti; Lori Hoffner; Annette E Cockwell; Patricia A Jacobs; Terry J Hassold
The origin of trisomy 13.
American journal of medical genetics. Part A 2007;143A(19):2242-8.
2007: Annette E Cockwell; Patricia A Jacobs; John A Crolla
Distribution of the D15Z1 copy number polymorphism.
European journal of human genetics : EJHG 2007;15(4):441-5.
2007: L M Russell; Paul Strike; C E Browne; Patricia A Jacobs
X chromosome loss and ageing.
Cytogenetic and genome research 2007;116(3):181-5.
2006: N Simon Thomas; Miranda Durkie; Gemma Potts; Richard Sandford; Berendine van Zyl; Sheila Youings; Nicholas R Dennis; Patricia A Jacobs
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
European journal of human genetics : EJHG 2006;14(7):831-7.
2006: Sarah Ennis; A Murray; Sheila Youings; G Brightwell; David Herrick; S Ring; Marcus E Pembrey; Newton E Morton; Patricia A Jacobs
An investigation of FRAXA intermediate allele phenotype in a longitudinal sample.
Annals of human genetics 2006;70(Pt 2):170-80.
2006: Katherine L Lachlan; Sheila Youings; T Costa; Patricia A Jacobs; N Simon Thomas
A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.
Human genetics 2006;118(5):640-51.
2005: Julia Baptista; Elena Prigmore; Susan M Gribble; Patricia A Jacobs; Nigel P Carter; John A Crolla
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
European journal of human genetics : EJHG 2005;13(11):1205-12.
2005: John A Crolla; Sheila Youings; Sarah Ennis; Patricia A Jacobs
Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.
European journal of human genetics : EJHG 2005;13(2):154-60.
2005: Susan M Gribble; Elena Prigmore; Deborah C Burford; Keith Michael Porter; Bee Ling Ng; Eleanor J Douglas; Heike Fiegler; Philippa Carr; Dimitrios Kalaitzopoulos; SM Clegg; R Sandstrom; I K Temple; Sheila Youings; N Simon Thomas; Nicholas R Dennis; Patricia A Jacobs; John A Crolla; Nigel P Carter
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
Journal of medical genetics 2005;42(1):8-16.
2004: Katherine L Lachlan; Morag N Collinson; Richard O C Sandford; Berendine van Zyl; Patricia A Jacobs; N Simon Thomas
Functional disomy resulting from duplications of distal Xq in four unrelated patients.
Human genetics 2004;115(5):399-408.
2003: Siân E Roberts; F Maggouta; N Simon Thomas; Patricia A Jacobs; John A Crolla
Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.
American journal of human genetics 2003;73(5):1061-72.
2003: Annette E Cockwell; Patricia A Jacobs; Sarah J Beal; John A Crolla
A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities.
Human genetics 2003;112(3):298-302.
2003: Melody Tabiner; Sheila Youings; Nicholas R Dennis; David Baldwin; Christel Buis; Andrew Mayers; Patricia A Jacobs; John A Crolla
Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines.
American journal of human genetics 2003;72(3):535-8.
2002: andrew sharp; Hugh T Spotswood; David O Robinson; Bryan M Turner; Patricia A Jacobs
Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations.
Human molecular genetics 2002;11(25):3145-56.
2002: Siân E Roberts; Nicholas R Dennis; Caroline E Browne; Lionel Willatt; GeoffreyC Woods; Ian Cross; Patricia A Jacobs; SimonN Thomas
Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.
Human genetics 2002;110(3):227-34.
2001: Terry J Hassold; Lindsay C Burrage; Ernest R Chan; L M Judis; Stuart Schwartz; S J James; Patricia A Jacobs; N S Thomas
Maternal folate polymorphisms and the etiology of human nondisjunction.
American journal of human genetics 2001;69(2):434-9.
2001: A J Swerdlow; Carol Hermon; Patricia A Jacobs; E Alberman; Valerie Beral; M Daker; A Fordyce; Sheila Youings
Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study.
Annals of human genetics 2001;65(Pt 2):177-88.
2001: N Simon Thomas; S Ennis; andrew sharp; Miranda Durkie; T J Hassold; ANDREW COLLINS; Patricia A Jacobs
Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.
Human molecular genetics 2001;10(3):243-50.
2000: N Simon Thomas; ANDREW COLLINS; T J Hassold; Patricia A Jacobs
A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin.
European journal of human genetics : EJHG 2000;8(10):805-8.
2000: A Murray; Sarah Ennis; Sheila Youings; AJ Sharrock; C Lewis; MC Pound; JN Macpherson; Nicholas R Dennis; Newton E Morton; Patricia A Jacobs
Stability and haplotype analysis of the FRAXE region.
European journal of human genetics : EJHG 2000;8(8):583-9.
2000: C Turner; Nicholas R Dennis; David Skuse; Patricia A Jacobs
Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.
Human genetics 2000;106(1):93-100.
1999: David O Robinson; Patricia A Jacobs
The origin of the extra Y chromosome in males with a 47,XYY karyotype.
Human molecular genetics 1999;8(12):2205-9.
1999: David O Robinson; P Dalton; Patricia A Jacobs; K Mosse; M M Power; David Skuse; John A Crolla
A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome.
Journal of medical genetics 1999;36(4):279-84.
1998: RS James; K Ellis; D Pettay; Patricia A Jacobs
Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies.
European journal of human genetics : EJHG 1998;6(3):207-12.
1998: RS James; BD Coppin; P Dalton; Nicholas R Dennis; C Mitchell; andrew sharp; David Skuse; N Simon Thomas; Patricia A Jacobs
A study of females with deletions of the short arm of the X chromosome.
Human genetics 1998;102(5):507-16.
1998: J W Teague; Newton E Morton; Nicholas R Dennis; G Curtis; N McKechnie; JN Macpherson; A Murray; MC Pound; AJ Sharrock; Sheila Youings; Patricia A Jacobs
FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(2):719-24.
1997: RS James; andrew sharp; Annette E Cockwell; BD Coppin; Patricia A Jacobs
Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction.
Journal of medical genetics 1997;34(12):1030-2.
1997: RS James; P Dalton; Karen M Gustashaw; Daynna J Wolff; Huntington F Willard; C Mitchell; Patricia A Jacobs
Molecular characterization of isochromosomes of Xq.
Annals of human genetics 1997;61(Pt 6):485-90.
1997: David Skuse; RS James; Dorothy V M Bishop; BD Coppin; P Dalton; G Aamodt-Leeper; M Bacarese-Hamilton; Cathy Creswell; R McGurk; Patricia A Jacobs
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.
Nature 1997;387(6634):705-8.
1997: A Murray; JN Macpherson; MC Pound; AJ Sharrock; Sheila Youings; Nicholas R Dennis; N McKechnie; P Linehan; Newton E Morton; Patricia A Jacobs
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.
Human molecular genetics 1997;6(2):173-84.
1996: RS James; Patricia A Jacobs
Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population.
Human genetics 1996;97(3):283-6.
1995: J J Shen; B J Williams; A Zipursky; J Doyle; Stephanie L Sherman; Patricia A Jacobs; A L Shugar; S W Soukup; Terry J Hassold
Cytogenetic and molecular studies of Down syndrome individuals with leukemia.
American journal of human genetics 1995;56(4):915-25.
1995: J M Fisher; J F Harvey; N E Morton; Patricia A Jacobs
Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction.
American journal of human genetics 1995;56(3):669-75.
1995: JN Macpherson; G Curtis; John A Crolla; Nicholas R Dennis; Barbara R Migeon; P K Grewal; Mark Hirst; Kay E Davies; Patricia A Jacobs
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.
Journal of medical genetics 1995;32(3):236-9.
1995: I Karen Temple; RS James; John A Crolla; F L Sitch; Patricia A Jacobs; W M Howell; P Betts; J D Baum; Julian P H Shield
An imprinted gene(s) for diabetes?
Nature genetics 1995;9(2):110-2.
1995: Patricia A Jacobs; Terry J Hassold
The origin of numerical chromosome abnormalities.
Advances in genetics 1995;33():101-33.
1994: MV Zaragoza; Patricia A Jacobs; RS James; Peter K Rogan; Stephanie L Sherman; Terry J Hassold
Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns.
Human genetics 1994;94(4):411-7.
1994: Andrew M Fisher; Annette E Cockwell; Patricia A Jacobs; H F Parry
Incidence of circulating cells positive for GpIb and GpIIIa in infants with Down's syndrome.
European journal of haematology 1994;53(1):46-8.
1994: A L Collins; Annette E Cockwell; Patricia A Jacobs; Nicholas R Dennis
A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.
Journal of medical genetics 1994;31(7):528-33.
1994: JN Macpherson; H Bullman; Sheila Youings; Patricia A Jacobs
Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.
Human molecular genetics 1994;3(3):399-405.
1994: RS James; I Karen Temple; C Patch; E M Thompson; Terry J Hassold; Patricia A Jacobs
A systematic search for uniparental disomy in carriers of chromosome translocations.
European journal of human genetics : EJHG 1994;2(2):83-95.
1993: J M Fisher; J F Harvey; R H Lindenbaum; PA Boyd; Patricia A Jacobs
Molecular studies of trisomy 18.
American journal of human genetics 1993;52(6):1139-44.
1993: Nicholas R Dennis; A L Collins; John A Crolla; Annette E Cockwell; Andrew M Fisher; Patricia A Jacobs
Three patients with ring (X) chromosomes and a severe phenotype.
Journal of medical genetics 1993;30(6):482-6.
1993: Patricia A Jacobs; H Bullman; J Macpherson; Sheila Youings; V Rooney; A Watson; Nicholas R Dennis
Population studies of the fragile X: a molecular approach.
Journal of medical genetics 1993;30(6):454-9.
1992: JN Macpherson; D L Nelson; Patricia A Jacobs
Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.
Journal of medical genetics 1992;29(11):802-6.
1992: John A Crolla; Nicholas R Dennis; Patricia A Jacobs
A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.
Journal of medical genetics 1992;29(10):699-703.
1992: Nicholas R Dennis; G Curtis; JN Macpherson; Patricia A Jacobs
Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.
American journal of medical genetics 1992;43(1-2):232-6.
1992: Patricia A Jacobs; C Browne; N Gregson; C Joyce; H White
Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.
Journal of medical genetics 1992;29(2):103-8.
1991: Stephanie L Sherman; N Takaesu; Sallie B Freeman; M Grantham; C Phillips; R D Blackston; Patricia A Jacobs; Annette E Cockwell; Victoria A Freeman; I Uchida
Trisomy 21: association between reduced recombination and nondisjunction.
American journal of human genetics 1991;49(3):608-20.
1991: Terry J Hassold; Stephanie L Sherman; DL Pettay; D C Page; Patricia A Jacobs
XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region.
American journal of human genetics 1991;49(2):253-60.
1990: Patricia A Jacobs; P R Betts; Annette E Cockwell; John A Crolla; M J Mackenzie; David O Robinson; Sheila Youings
A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome.
Annals of human genetics 1990;54(Pt 3):209-23.
1990: K M May; Patricia A Jacobs; M Lee; S Ratcliffe; A Robinson; J Nielsen; Terry J Hassold
The parental origin of the extra X chromosome in 47,XXX females.
American journal of human genetics 1990;46(4):754-61.
1990: J Harvey; Patricia A Jacobs; Terry J Hassold; DL Pettay
The parental origin of 47,XXY males.
Birth defects original article series 1990;26(4):289-96.
1990: Terry J Hassold; K Arnovitz; Patricia A Jacobs; K May; D Robinson
The parental origin of the missing or additional chromosome in 45,X and 47,XXX females.
Birth defects original article series 1990;26(4):297-304.
1990: N Takaesu; Patricia A Jacobs; Annette E Cockwell; R D Blackston; S Freeman; J Nuccio; David M Kurnit; I Uchida; Victoria A Freeman; Terry J Hassold
Nondisjunction of chromosome 21.
American journal of medical genetics. Supplement 1990;7():175-81.
1990: N E Morton; B J Keats; Patricia A Jacobs; Terry J Hassold; DL Pettay; J Harvey; V Andrews
A centromere map of the X chromosome from trisomies of maternal origin.
Annals of human genetics 1990;54(Pt 1):39-47.
1988: Patricia A Jacobs; Terry J Hassold; E Whittington; G Butler; S Collyer; M Keston; M Lee
Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes.
Annals of human genetics 1988;52(Pt 2):93-109.
1988: Terry J Hassold; Patricia A Jacobs; DL Pettay
Cytogenetic studies of couples with repeated spontaneous abortions of known karyotype.
Genetic epidemiology 1988;5(2):65-74.
1988: M Harbison; Terry J Hassold; C Kobryn; Patricia A Jacobs
Molecular studies of the parental origin and nature of human X isochromosomes.
Cytogenetics and cell genetics 1988;47(4):217-22.
1987: Patricia A Jacobs; Terry J Hassold; A Henry; DL Pettay; N Takaesu
Trisomy 13 ascertained in a survey of spontaneous abortions.
Journal of medical genetics 1987;24(12):721-4.
1987: Terry J Hassold; Patricia A Jacobs; M Leppert; M Sheldon
Cytogenetic and molecular studies of trisomy 13.
Journal of medical genetics 1987;24(12):725-32.
1987: Terry J Hassold; Patricia A Jacobs; DL Pettay
Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions.
Human genetics 1987;76(4):381-4.