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Showing 1–50 of 66 results

Advanced filters: Author: M Pembrey Clear advanced filters

Thermoregulatory set point in patients with spinal cord injuries (spinal man)

M Attia
P Engel
Research01 Aug 1983
Spinal Cord

Volume: 21, P: 233-248
Structure of the human fetal globin gene locus

P. F. R. Little
R. A. Flavell
R. Williamson
Research15 Mar 1979
Nature

Volume: 278, P: 227-231
Educational material on genetics for schools: ‘The Science behind the Jeans for Genes Day’

M Pembrey
J Tizzard
Reviews19 Oct 1998
European Journal of Human Genetics

Volume: 6, P: 413-414
A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression

Bruce M. Cattanach
Jacqueline A. Barr
Janet Jones
Research01 Dec 1992
Nature Genetics

Volume: 2, P: 270-274
Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene

B. Glaser
K.C. Chiu
M.A. Permutt
Research01 Jun 1994
Nature Genetics

Volume: 7, P: 185-188
Isodisomy in BWS chromosomes

ANDREW O. M. WILKIE
SUSAN MALCOLM
MARCUS E. PEMBREY
Research31 Oct 1991
Nature

Volume: 353, P: 802
The Evolution of Sex

M. S. PEMBREY
Research02 Jan 1890
Nature

Volume: 41, P: 199
Weasels killing Frogs

M. S. PEMBREY
Research02 Feb 1888
Nature

Volume: 37, P: 321
Immunosuppressants in patients with AIDS

A. HAUSEN
M.P. DIERICH
H. WACHTER
Research13 Mar 1986
Nature

Volume: 320, P: 114
The British Museum Reading-Room

A. B. M.
Research02 Jan 1890
Nature

Volume: 41, P: 199
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Paul R Burton
David G Clayton
Matthew A Brown
Research21 Oct 2007
Nature Genetics

Volume: 39, P: 1329-1337
Requirement for integrins during Drosophila wing development

Danny L. Brower
Sharon M. Jaffe
Research16 Nov 1989
Nature

Volume: 342, P: 285-287
Mutations of the RET proto-oncogene in Hirschsprung's disease

Patrick Edery
Stanislas Lyonnet
Arnold Munnich
Research27 Jan 1994
Nature

Volume: 367, P: 378-380
An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom

JK Cowell
M Jay
J Hungerford
Research01 Jun 1987
British Journal of Cancer

Volume: 55, P: 661-664
A point mutation in the ^Aγ-globin gene promoter in Greek hereditary persistence of fetal haemoglobin

Francis S. Collins
James E. Metherall
Bernard G. Forget
Research24 Jan 1985
Nature

Volume: 313, P: 325-326
Deficiency of the β3 subunit of the type A γ–aminobutyric acid receptor causes cleft palate in mice

Cymbeline T. Culiat
Lisa J. Stubbs
Eugene M. Rinchik
Research01 Nov 1995
Nature Genetics

Volume: 11, P: 344-346
Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

D. Jadayel
P. Fain
B. A. J. Ponder
Research08 Feb 1990
Nature

Volume: 343, P: 558-559
Transgenerational epigenetic inheritance: how important is it?

How much transgenerational epigenetic inheritance takes place, and what impact does this have on organisms? We asked five leading researchers — working on key model organisms and on human disease — for their views.

Ueli Grossniklaus
William G. Kelly
Susan Lindquist
Reviews18 Feb 2013
Nature Reviews Genetics

Volume: 14, P: 228-235
Those wonderful school days in Sestri Levante!

Marcus Pembrey
Reviews03 Jan 2018
European Journal of Human Genetics

Volume: 25, P: S13-S15
Bayesian refinement of association signals for 14 loci in 3 common diseases

Peter Donnelly and colleagues report fine mapping of 14 susceptibility loci in 8,000 cases and controls for type 2 diabetes, coronary artery disease and Graves' disease. They apply a new Bayesian method for analysis of fine-mapping data sets, using this to define sets of SNPs likely to contain causal disease-associated variants.

Julian B Maller
Gilean McVean
Peter Donnelly
Research28 Oct 2012
Nature Genetics

Volume: 44, P: 1294-1301
Hemoglobin α Chain Deficiency in Black Children with Variable Quantities of Hemoglobin Bart's at Birth

C Altay
B Ringelhann
T H J Huisman
Research01 Feb 1977
Pediatric Research

Volume: 11, P: 147-152
Science journalism

S.V.M. CLUBE
W.M. NAPIER
Correspondence20 Sept 1984
Nature

Volume: 311, P: 200
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

Eugene M. Rinchik
Scott J. Bultman
Robert D. Nicholls
Research07 Jan 1993
Nature

Volume: 361, P: 72-76
Longitudinal Study of a Newborn with a Combination of Deletion and Nondeletion α-Thalassemia-2

R Galanello
M A Melis
A Cao
Research01 Feb 1984
Pediatric Research

Volume: 18, P: 158-162
Hematologic Changes and Hemoglobin Analysis in β Thalassemia Heterozygotes during the First Year of Life

W G Wood
D J Weatherall
G W Marsh
Research01 Apr 1982
Pediatric Research

Volume: 16, P: 286-289
Die Grundsätze unddas Wesen des Unendlichen in der Mathematik und Philosophie

G. B. M.
Books & Arts26 Feb 1903
Nature

Volume: 67, P: 387-388
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

Robert D. Nicholls
Joan H. M. Knoll
Marc Lalande
Research16 Nov 1989
Nature

Volume: 342, P: 281-285
The Physiology of Industrial Organisation and the Re-employment of the Disabled

M. G.
Books & Arts03 Jul 1919
Nature

Volume: 103, P: 341-342
Pyrexia in hospitalised spinal cord injury patients

P S S Beraldo
E G C Neves
M R B Alencar
Research01 Mar 1993
Spinal Cord

Volume: 31, P: 186-191
Prepubertal start of father’s smoking and increased body fat in his sons: further characterisation of paternal transgenerational responses

Kate Northstone
Jean Golding
Marcus Pembrey
ResearchOpen Access02 Apr 2014
European Journal of Human Genetics

Volume: 22, P: 1382-1386
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

An exciting genome-wide association study in the British population for seven common diseases. This analysis confirms previously identified loci and provides strong evidence for many novel disease susceptibility loci.

Paul R. Burton
David G. Clayton
Jane Worthington
Research07 Jun 2007
Nature

Volume: 447, P: 661-678
Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

New methods and larger sample groups are used to precisely determine the alleles in the HLA complex which contribute susceptibility to type 1 diabetes.

Sergey Nejentsev
Joanna M. M. Howson
Jane Worthington
Research14 Nov 2007
Nature

Volume: 450, P: 887-892
The Manufacture of Acids during the War¹

T. M. LOWRY
News09 Dec 1922
Nature

Volume: 110, P: 777-779
Prof. A. E. Boycott, F.R.S

C. J. M.
Comments & Opinion02 Jul 1938
Nature

Volume: 142, P: 13-15
Book Reviews

D M MacDonald
Books & Arts01 Jun 1987
Heredity

Volume: 58, P: 473-474
Stellar Atmospheres: a Contribution to the Observational Study of High Temperature in the Reversing Layers of Stars

E. A. M.
Books & Arts10 Oct 1925
Nature

Volume: 116, P: 530-532
Sex-specific, male-line transgenerational responses in humans

Marcus E Pembrey
Lars Olov Bygren
Jean Golding
Research14 Dec 2005
European Journal of Human Genetics

Volume: 14, P: 159-166
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

Mark Daly and colleagues present results of a combined analysis of data from three recent genome-wide association studies for Crohn's disease, followed by replication in a large independent sample collection. Their results confirm 11 previously reported risk loci and provide genome-wide significant evidence for 21 new loci associated with the disease.

Jeffrey C Barrett
Sarah Hansoul
Mark J Daly
Research29 Jun 2008
Nature Genetics

Volume: 40, P: 955-962
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

Miles Parkes
Jeffrey C Barrett
Christopher G Mathew
Research06 Jun 2007
Nature Genetics

Volume: 39, P: 830-832
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy number variants (CNVs) account for a major proportion of human genetic diversity and may contribute to genetic susceptibility to disease. Here, a large, genome-wide study of association between common CNVs and eight common human diseases is presented. The study provides a wealth of technical insights that will inform future study design and analysis. The results also indicate that common CNVs that can be 'typed' on existing platforms are unlikely to contribute much to the genetic basis of common diseases.

Nick Craddock
Matthew E. Hurles
Peter Donnelly
Research01 Apr 2010
Nature

Volume: 464, P: 713-720
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function

D. H. Skuse
R. S. James
P. A. Jacobs
Research12 Jun 1997
Nature

Volume: 387, P: 705-708
Smoking habit from the paternal line and grand-child’s overweight or obesity status in early childhood: prospective findings from the lifeways cross-generation cohort study

Cilia Mejia-Lancheros
John Mehegan
Cecily C. Kelleher
Research13 Mar 2018
International Journal of Obesity

Volume: 42, P: 1853-1870
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Sheila A Fisher
Mark Tremelling
Jack Satsangi
Research27 Apr 2008
Nature Genetics

Volume: 40, P: 710-712
Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin

Rong Mao
Syed M Jalal
Dusica Babovic-Vuksanovic
Research01 Mar 2000
Genetics in Medicine

Volume: 2, P: 131-135
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

Stefan Schreiber and colleagues report the results of a genome-wide association study for ulcerative colitis. Variants flanking the gene encoding the cytokine IL10 are associated with increased risk of disease, as are several other loci.

Andre Franke
Tobias Balschun
Stefan Schreiber
Research05 Oct 2008
Nature Genetics

Volume: 40, P: 1319-1323
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL)

Andre Franke and colleagues report results of a genome-wide association and replication study of ulcerative colitis. They identify two new regions of association at 7q22 and at 22q13 in IL17REL.

Andre Franke
Tobias Balschun
Stefan Schreiber
Research14 Mar 2010
Nature Genetics

Volume: 42, P: 292-294
Signal-dependent noise determines motor planning

Christopher M. Harris
Daniel M. Wolpert
Research20 Aug 1998
Nature

Volume: 394, P: 780-784
Epigenetic Inheritance of Disease and Disease Risk

Johannes Bohacek
Isabelle M Mansuy
Reviews11 Jul 2012
Neuropsychopharmacology

Volume: 38, P: 220-236
The creation of the International Federation of Human Genetics Societies in 1995–1996

Marcus Pembrey
Reviews03 Jan 2018
European Journal of Human Genetics

Volume: 25, P: S43-S44
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

Jason Cooper and colleagues identify four new risk loci for type 1 diabetes through a meta-analysis of data from three genome-wide association studies, with replication in additional case-control and family-based samples, providing further insights into the genetic risk factors underlying this disease.

Jason D Cooper
Deborah J Smyth
John A Todd
Research02 Nov 2008
Nature Genetics

Volume: 40, P: 1399-1401

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