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Showing 101–138 of 138 results

Advanced filters: Author: D A Rossignol Clear advanced filters

Walking index for spinal cord injury (WISCI): an international multicenter validity and reliability study

JF Ditunno
PL Ditunno
P Nance
Research17 May 2000
Spinal Cord

Volume: 38, P: 234-243
A French cohort for assessing COVID-19 vaccine responses in specific populations

Paul Loubet
Linda Wittkop
Odile Launay
Correspondence12 Jul 2021
Nature Medicine

Volume: 27, P: 1319-1321
Epidemiological and molecular forensics of cholera recurrence in Haiti

Stanislas Rebaudet
Sandra Moore
Renaud Piarroux
ResearchOpen Access04 Feb 2019
Scientific Reports

Volume: 9, P: 1-11
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Mitochondrial DNA mutations in human cancer

A Chatterjee
E Mambo
D Sidransky
Reviews07 Aug 2006
Oncogene

Volume: 25, P: 4663-4674
Characterization of Holstein and Normande whole milk miRNomes highlights breed specificities

S. Le Guillou
A. Leduc
F. Le Provost
ResearchOpen Access30 Dec 2019
Scientific Reports

Volume: 9, P: 1-13
Prognostic impact of eosinophils in mastocytosis: analysis of 2350 patients collected in the ECNM Registry

Hanneke C. Kluin-Nelemans
Andreas Reiter
Wolfgang R. Sperr
Research18 Nov 2019
Leukemia

Volume: 34, P: 1090-1101
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
The genetics of early telencephalon patterning: some assembly required

The genetic interactions that pattern the embryonic telencephalon are highly complex. Fishell and Hébert bring clarity to these events by describing the key genetic interactions that underlie the patterning of the early telencephalon into distinct proliferative zones.

Jean M. Hébert
Gord Fishell
Reviews06 Aug 2008
Nature Reviews Neuroscience

Volume: 9, P: 678-685
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

D A Rossignol
R E Frye
ResearchOpen Access25 Jan 2011
Molecular Psychiatry

Volume: 17, P: 290-314
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Cerebral folate receptor autoantibodies in autism spectrum disorder

R E Frye
J M Sequeira
D A Rossignol
ResearchOpen Access10 Jan 2012
Molecular Psychiatry

Volume: 18, P: 369-381
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
Environmental toxicants and autism spectrum disorders: a systematic review

D A Rossignol
S J Genuis
R E Frye
ResearchOpen Access11 Feb 2014
Translational Psychiatry

Volume: 4, P: e360
Prion strain-dependent tropism is maintained between spleen and granuloma and relies on lymphofollicular structures

Iman Al-Dybiat
Mohammed Moudjou
Pierre Sibille
ResearchOpen Access10 Oct 2019
Scientific Reports

Volume: 9, P: 1-14
Networking in Autism: Leveraging Genetic, Biomarker and Model System Findings in the Search for New Treatments

Jeremy Veenstra-VanderWeele
Randy D Blakely
Reviews21 Sept 2011
Neuropsychopharmacology

Volume: 37, P: 196-212
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Ali Abbas
Sheryl Ann Abdukahil
Luis Felipe Reyes
ResearchOpen Access30 Jul 2022
Scientific Data

Volume: 9, P: 1-22
Global Spore Sampling Project: A global, standardized dataset of airborne fungal DNA

Otso Ovaskainen
Nerea Abrego
Tomas Roslin
ResearchOpen Access30 May 2024
Scientific Data

Volume: 11, P: 1-17
Allogeneic haematopoietic cell transplantation for advanced systemic mastocytosis: Best practice recommendations on behalf of the EBMT Practice Harmonisation and Guidelines Committee

Donal P. McLornan
Tomasz Czerw
Deepti H. Radia
Reviews12 Mar 2024
Leukemia

Volume: 38, P: 699-711
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Francis Rossignol
Marvid S. Duarte Moreno
Manuel Schiff
Reviews26 May 2021
Genetics in Medicine

Volume: 23, P: 1604-1615
Combined GFAP, NFL, Tau, and UCH-L1 panel increases prediction of outcomes in neonatal encephalopathy

Zhihui Yang
Haiyan Xu
Michael D. Weiss
Research10 Mar 2022
Pediatric Research

Volume: 93, P: 1199-1207
A human cell line that maintains telomeres in the absence of telomerase and of key markers of ALT

Maria A Cerone
Chantal Autexier
Silvia Bacchetti
Research22 Aug 2005
Oncogene

Volume: 24, P: 7893-7901
Summary report of the Standards, Options and Recommendations for malnutrition and nutritional assessment in patients with cancer (1999)

A Duguet
P Bachmann
M P Blanc-Vincent
ResearchOpen Access15 Aug 2003
British Journal of Cancer

Volume: 89, P: S92-S97
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Hélène Dollfus
Marc R. Lilien
Diana Valverde
ReviewsOpen Access31 Jul 2024
European Journal of Human Genetics

Volume: 32, P: 1347-1360
A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures

D A Rossignol
R E Frye
ReviewsOpen Access06 Dec 2011
Molecular Psychiatry

Volume: 17, P: 389-401
Prevalence, risk factors and clinical implications of malnutrition in French Comprehensive Cancer Centres

M Pressoir
S Desné
P Bachmann
ResearchOpen Access16 Feb 2010
British Journal of Cancer

Volume: 102, P: 966-971
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot
Aoife C. McMahon
Christel Depienne
Amendments and CorrectionsOpen Access02 Oct 2018
Genetics in Medicine

Volume: 21, P: 1897-1898
Consistently dated Atlantic sediment cores over the last 40 thousand years

Claire Waelbroeck
Bryan C. Lougheed
Martin Ziegler
ResearchOpen Access02 Sept 2019
Scientific Data

Volume: 6, P: 1-12
Can we identify response markers to antihypertensive drugs? First results from the IDEAL Trial

F Gueyffier
F Subtil
S Erpeldinger
Research17 Apr 2014
Journal of Human Hypertension

Volume: 29, P: 22-27
Angiogenic gene therapy in patients with nonrevascularizable ischemic heart disease: a phase 2 randomized, controlled trial of AdVEGF₁₂₁ (AdVEGF121) versus maximum medical treatment

D J Stewart
J D Hilton
H S Rasmussen
Research22 Jun 2006
Gene Therapy

Volume: 13, P: 1503-1511
Lower extremity outcome measures: considerations for clinical trials in spinal cord injury

Marc Bolliger
Andrew R. Blight
John Steeves
ReviewsOpen Access27 Apr 2018
Spinal Cord

Volume: 56, P: 628-642
Gene expression profiling of 1p35–36 genes in neuroblastoma

Isabelle Janoueix-Lerosey
Eugene Novikov
Olivier Delattre
Research14 Jun 2004
Oncogene

Volume: 23, P: 5912-5922
14-3-3-Regulated Ca²⁺-dependent protein kinase CPK3 is required for sphingolipid-induced cell death in Arabidopsis

C Lachaud
E Prigent
V Cotelle
Research31 Aug 2012
Cell Death & Differentiation

Volume: 20, P: 209-217
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467