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Showing 101–150 of 151 results

Advanced filters: Author: H Scheffer Clear advanced filters

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

Joanne E Taylor
Neil H Thomas
Christopher G Mathew
Research18 Nov 1998
European Journal of Human Genetics

Volume: 6, P: 467-474
Transformation starts at the periphery of networks where pushback is less

Ingrid A. van de Leemput
Jordi Bascompte
Egbert H. van Nes
ResearchOpen Access18 May 2024
Scientific Reports

Volume: 14, P: 1-8
A safe operating space for humanity

Identifying and quantifying planetary boundaries that must not be transgressed could help prevent human activities from causing unacceptable environmental change, argue Johan Rockström and colleagues.

Johan Rockström
Will Steffen
Jonathan A. Foley
Special Features23 Sept 2009
Nature

Volume: 461, P: 472-475
Transnational corporations and the challenge of biosphere stewardship

Transnational corporations control large proportions of the industries and commodities that directly and indirectly impact the environment. Here, the authors discuss the problems, but also potential benefits, of such consolidation for sustainability.

Carl Folke
Henrik Österblom
Aart de Zeeuw
Reviews16 Sept 2019
Nature Ecology & Evolution

Volume: 3, P: 1396-1403
Coral reefs in the Anthropocene

Terry P. Hughes
Michele L. Barnes
Marten Scheffer
Reviews01 Jun 2017
Nature

Volume: 546, P: 82-90
Climate reddening increases the chance of critical transitions

Climate memory is anticipated to increase in the future, a process known as reddening. This Perspective examines how a change in the temporal autocorrelation of climate variables may impact the likelihood of critical transitions, using examples from forests, coral reefs, poverty traps and ice sheets.

Bregje van der Bolt
Egbert H. van Nes
Marten Scheffer
Reviews30 May 2018
Nature Climate Change

Volume: 8, P: 478-484
Inferring causation from time series in Earth system sciences

Questions of causality are ubiquitous in Earth system sciences and beyond, yet correlation techniques still prevail. This Perspective provides an overview of causal inference methods, identifies promising applications and methodological challenges, and initiates a causality benchmark platform.

Jakob Runge
Sebastian Bathiany
Jakob Zscheischler
ReviewsOpen Access14 Jun 2019
Nature Communications

Volume: 10, P: 1-13
Characterisation of a navelbine-resistant bladder carcinoma cell line cross-resistant to taxoids

V Debal
N Allam
M Manfait
Research01 Dec 1994
British Journal of Cancer

Volume: 70, P: 1118-1125
Cytochrome P450 CYP1B1 over-expression in primary and metastatic ovarian cancer

M C E McFadyen
M E Cruickshank
G I Murray
ResearchOpen Access17 Jul 2001
British Journal of Cancer

Volume: 85, P: 242-246
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

Susanne T de Bot
Rogier C Burggraaff
Hubertus PH Kremer
Research27 Feb 2013
European Journal of Human Genetics

Volume: 21, P: 1312-1315
Berberine modulates expression of mdr1 gene product and the responses of digestive track cancer cells to Paclitaxel

H-L Lin
T-Y Liu
C-W Chi
ResearchOpen Access10 Sept 1999
British Journal of Cancer

Volume: 81, P: 416-422
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Andrew S Allen
Samuel F Berkovic
Melodie R Winawer
Research17 May 2017
European Journal of Human Genetics

Volume: 25, P: 894-899
The acridonecarboxamide GF120918 potently reverses P-glycoprotein-mediated resistance in human sarcoma MES-Dx5 cells

H C L Traunecker
M C G Stevens
D R Ferry
ResearchOpen Access29 Oct 1999
British Journal of Cancer

Volume: 81, P: 942-951
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24
LINKAGE OF DNA MARKERS ON CHROMOSOME 13 WITH WILSON DISEASE

R H J Houwen
H Scheffer
C H C M Buys
Research01 Aug 1987
Pediatric Research

Volume: 22, P: 238
BCRP expression does not result in resistance to STX140 in vivo, despite the increased expression of BCRP in A2780 cells in vitro after long-term STX140 exposure

J M Day
P A Foster
A Purohit
ResearchOpen Access20 Jan 2009
British Journal of Cancer

Volume: 100, P: 476-486
Activity of cyclosporins as resistance modifiers in primary cultures of human haematological and solid tumours

H Fridborg
B Jonsson
R Larsson
Research01 Jul 1994
British Journal of Cancer

Volume: 70, P: 11-17
Quantitation of minimal residual disease in acute myelogenous leukemia and myelodysplastic syndromes in complete remission by molecular cytogenetics of progenitor cells

H Engel
J Drach
M Andreeff
Research16 Apr 1999
Leukemia

Volume: 13, P: 568-577
The genetics of phenotypic plasticity in a colonizing population of the ladybird beetle, Hormonia axyridis

Christopher P Grill
Allen J Moore
Edmund D Brodie III
Research01 Mar 1997
Heredity

Volume: 78, P: 261-269
A Provisional Transcript Map of the Spinal Muscular Atrophy (SMA) Critical Region

Gerrit van der Steege
Tineke G. Draaijers
Charles H. C. M. Buys
Research01 Mar 1995
European Journal of Human Genetics

Volume: 3, P: 87-95
Expression of γ-glutamylcysteine synthetase (γ-GCS) and multidrug resistance-associated protein (MRP), but not human canalicular multispecific organic anion transporter (cMOAT), genes correlates with exposure of human lung cancers to platinum drugs

T Oguri
Y Fujiwara
M Yamakido
Research01 Apr 1998
British Journal of Cancer

Volume: 77, P: 1089-1096
The glutathione transferase Mu null genotype leads to lower 6-MMPR levels in patients treated with azathioprine but not with mercaptopurine

M M T J Broekman
D R Wong
D J de Jong
Research03 Jan 2017
The Pharmacogenomics Journal

Volume: 18, P: 160-166
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1337-1347
BIRICODAR (VX-710; Incel™): an effective chemosensitizer in neuroblastoma

T Yanagisawa
A Newman
K Pritchard-Jones
ResearchOpen Access28 May 1999
British Journal of Cancer

Volume: 80, P: 1190-1196
Phylogeography of Nasonia vitripennis (Hymenoptera) indicates a mitochondrial–Wolbachia sweep in North America

R Raychoudhury
B K Grillenberger
L W Beukeboom
Research20 Jan 2010
Heredity

Volume: 104, P: 318-326
A Deletion Hybrid Breakpoint Map of the Chromosomal Region 13q14–q21 Orders 19 Genetic Markers in 10 Intervals

R. Frank Kooy
Edwin Verlind
Charles H. C. M. Buys
Research01 Jan 1994
European Journal of Human Genetics

Volume: 2, P: 59-65
An Integrated Map of Human Chromosome 13 Allowing Regional Localization of Genetic Markers

R. Frank Kooy
Albert Wijngaard
Charles H. C. M. Buys
Research01 May 1995
European Journal of Human Genetics

Volume: 3, P: 180-187
Prenatal Prediction of Spinal Muscular Atrophy

J. M. Cobben
H. Scheffer
C. H. C. M. Buys
Research01 Jul 1996
European Journal of Human Genetics

Volume: 4, P: 231-236
The association between HTR2C polymorphisms and obesity in psychiatric patients using antipsychotics: a cross-sectional study

H Mulder
B Franke
H Scheffer
Research03 Oct 2006
The Pharmacogenomics Journal

Volume: 7, P: 318-324
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
Amendments and Corrections13 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1459-1461
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

Kristy L Kolc
Lynette G Sadleir
Jozef Gecz
ReviewsOpen Access11 Jun 2018
Molecular Psychiatry

Volume: 24, P: 241-251
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco
Mieke Wesdorp
Helger G Yntema
Research21 Dec 2016
European Journal of Human Genetics

Volume: 25, P: 308-314
Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Lonneke Haer-Wigman
Wendy AG van Zelst-Stams
Helger G Yntema
ResearchOpen Access22 Feb 2017
European Journal of Human Genetics

Volume: 25, P: 591-599
Genetic diversity of inorganic carbon uptake systems causes variation in CO₂ response of the cyanobacterium Microcystis

Giovanni Sandrini
Hans C P Matthijs
Jef Huisman
Research17 Oct 2013
The ISME Journal

Volume: 8, P: 589-600
Abrupt Climate Change in an Oscillating World

S. Bathiany
M. Scheffer
T. M. Lenton
ResearchOpen Access22 Mar 2018
Scientific Reports

Volume: 8, P: 1-12
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Ellen A Croonen
Willy M Nillesen
Helger G Yntema
Research16 Jan 2013
European Journal of Human Genetics

Volume: 21, P: 936-942
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
Amendments and Corrections25 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1462-1465
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
Amendments and Corrections16 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1466-1469
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

Katherine B. Howell
Susan M. White
Stephen W. Scherer
ReviewsOpen Access27 Feb 2025
npj Genomic Medicine

Volume: 10, P: 1-14
Erratum: Exosome-associated AAV vector as a robust and convenient neuroscience tool

E Hudry
C Martin
C A Maguire
Amendments and Corrections03 Nov 2016
Gene Therapy

Volume: 23, P: 819
Exosome-associated AAV vector as a robust and convenient neuroscience tool

E Hudry
C Martin
C A Maguire
Research02 Feb 2016
Gene Therapy

Volume: 23, P: 380-392
Social and moral psychology of COVID-19 across 69 countries

Flavio Azevedo
Tomislav Pavlović
Waldir M. Sampaio
ResearchOpen Access11 May 2023
Scientific Data

Volume: 10, P: 1-26
Microbial ecology of biological invasions

Wim H van der Putten
John N Klironomos
David A Wardle
Reviews01 May 2007
The ISME Journal

Volume: 1, P: 28-37
Tailoring heated intraperitoneal mitomycin C for peritoneal metastases originating from colorectal carcinoma: a translational approach to improve survival

R Kwakman
E M V de Cuba
E A te Velde
ResearchOpen Access10 Feb 2015
British Journal of Cancer

Volume: 112, P: 851-856
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Erik-Jan Kamsteeg
Wolfram Kress
Hans Scheffer
ReviewsOpen Access30 May 2012
European Journal of Human Genetics

Volume: 20, P: 1203-1208
Whole-genome sequencing in health care

Carla G van El
Martina C Cornel
Guido M W R de Wert
Reviews16 May 2013
European Journal of Human Genetics

Volume: 21, P: 580-584
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

B W M van Bon
B P Coe
E E Eichler
Research24 Feb 2015
Molecular Psychiatry

Volume: 21, P: 126-132
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

M C Cornelis
E M Byrne
D I Chasman
Research07 Oct 2014
Molecular Psychiatry

Volume: 20, P: 647-656
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
ReviewsOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1325-1331
Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
ReviewsOpen Access10 May 2021
European Journal of Human Genetics

Volume: 29, P: 1332-1336