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Showing 1–50 of 124 results

Advanced filters: Author: S A Amiel Clear advanced filters

Global burden of amphetamine, cannabis, cocaine and opioid use in 204 countries, 1990–2023: a Global Burden of Disease Study

Global Burden of Disease estimates show that between 1990 and 2023, the prevalence and burden of drug use disorders, inclusive of amphetamine, cannabis, cocaine and opioid use, have been increasing in high-income countries, particularly in the USA.

Jiseung Kang
Hyeon Jin Kim
Dong Keon Yon
Research16 Jan 2026
Nature Medicine

Volume: 32, P: 527-544
The use of haemopoietic heterochimeras for the detection of leukaemogenic virus

G Mathé
R Motta
S Sorieul
Research01 Mar 1968
British Journal of Cancer

Volume: 22, P: 145-148
Neutron Activation Analyses of Snake Venoms: Presence of Copper

S. GITTER
S. AMIEL
Y. WELWART
Research26 Jan 1963
Nature

Volume: 197, P: 383-384
The Phox2B homeobox gene is mutated in sporadic neuroblastomas

Vera van Limpt
Alexander Schramm
Rogier Versteeg
Research25 Oct 2004
Oncogene

Volume: 23, P: 9280-9288
Contractures complicating spinal cord injury: incidence and comparison between spinal cord centre and general hospital acute care

Gary M Yarkony
L Mitchell Bass
Paul R Meyer
Research01 Oct 1985
Spinal Cord

Volume: 23, P: 265-271
Experimental Chimerism in a Genetic Defect in the House Mouse Mus musculus

MARY J. SELLER
PAUL E. POLANI
Research01 Oct 1966
Nature

Volume: 212, P: 80-81
Donor Haemoglobin in Anaemic Mice of the W-series transplanted with Haematopoietic Tissue from an Unrelated Donor

MARY J. SELLER
Research01 Oct 1966
Nature

Volume: 212, P: 81-82
Chemotherapy of advanced breast cancer: outcome and prognostic factors

WM Gregory
P Smith
RD Rubens
Research01 Nov 1993
British Journal of Cancer

Volume: 68, P: 988-995
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Jeanne Amiel, Bernd Wollnik, Bruno Reversade and colleagues report de novo missense mutations in SMCHD1 in patients with Bosma arhinia microphthalmia syndrome (BAMS) and isolated arhinia. Mechanistic studies support a key role for SMCHD1 in nasal development and suggest that the mutations in patients may function via a gain-of-function mechanism.

Christopher T Gordon
Shifeng Xue
Bruno Reversade
Research09 Jan 2017
Nature Genetics

Volume: 49, P: 249-255
A parallel randomised controlled trial of the Hypoglycaemia Awareness Restoration Programme for adults with type 1 diabetes and problematic hypoglycaemia despite optimised self-care (HARPdoc)

Impaired awareness of hypoglycaemia (IAH) is a risk for severe hypoglycaemia in insulin treatment of type 1 diabetes (T1D). Here the authors report that a group programme focussing on changing cognitive barriers to avoiding hypoglycaemia (HARPdoc) does not reduce severe hypoglycaemia more than a programme focussing on behaviours (BGAT) in a randomized control trial in adults with T1D and treatment-resistant IAH and severe hypoglycaemia.

Stephanie A. Amiel
Laura Potts
Nicole de Zoysa
ResearchOpen Access28 Apr 2022
Nature Communications

Volume: 13, P: 1-15
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

Beryl Royer-Bertrand
Silvia Castillo-Taucher
Andrea Superti-Furga
ResearchOpen Access24 Nov 2015
Scientific Reports

Volume: 5, P: 1-8
Deranged α-Adrenergic Regulation of Growth Hormone Secretion in Poorly Controlled Diabetes: Reversal of the Exaggerated Response to Clonidine after Continuous Subcutaneous Insulin Infusion

Eythan Topper
Joseph Gertner
William V Tamborlane
Research01 Jun 1985
Pediatric Research

Volume: 19, P: 534-536
Darwin: heading to a town near you

The theory of evolution challenges artists and philosophers as much as scientists. Joanne Baker rounds up the many forthcoming events worldwide that examine Darwin's life, his work and reactions to it.

Joanne Baker
Books & Arts19 Nov 2008
Nature

Volume: 456, P: 322-323
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Here the authors identify GPATCH11 variants responsible for retinal dystrophy with neurological impairment and facial dysmorphy. They explore its function using a mouse model and demonstrate GPATCH11’s involvement in RNA regulation and splicing.

Andrea Zanetti
Gwendal Dujardin
Isabelle Perrault
ResearchOpen Access21 Nov 2024
Nature Communications

Volume: 15, P: 1-20
A Factor promoting Dissociation of Escherichia coli Ribosomes

S. H. MIALL
T. KATO
T. TAMAOKI
Research13 Jun 1970
Nature

Volume: 226, P: 1050-1052
Long-term impact of systematic pain and sedation management on cognitive, motor, and behavioral outcomes of extremely preterm infants at preschool age

Philipp Steinbauer
Philipp Deindl
Vito Giordano
Research26 May 2020
Pediatric Research

Volume: 89, P: 540-548
27 INFANTS WITH BIRTHWEIGHTS LESS THAN 1000 GRAMS: THE FIRST THREE YEARS

J Bernbaurn
M Hoffman-Williamson
W W Fox
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 115
Major histocompatibility complex complement (MHC) Bf alleles show trans species evolution between man and chimpanzee

Antonio Arnaiz-Villena
Ignacio Juarez
Fabio Suarez-Trujillo
ResearchOpen Access04 Oct 2023
Scientific Reports

Volume: 13, P: 1-6
Prenatal tobacco smoke exposure and risk for cognitive delays in infants born very premature

E. Melinda Mahabee-Gittens
Nusrat Harun
Weihong Yuan
ResearchOpen Access16 Jan 2024
Scientific Reports

Volume: 14, P: 1-8
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.

Sukhleen Kour
Deepa S. Rajan
Udai Bhan Pandey
ResearchOpen Access07 May 2021
Nature Communications

Volume: 12, P: 1-15
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

THOC6 is required for TREX tetramer formation. Analysis of pathogenic THOC6 variants differentiate the conserved mRNA export functions of TREX dimers and RNA processing functions of TREX tetramers underlying THOC6 Intellectual Disability Syndrome.

Elizabeth A. Werren
Geneva R. LaForce
Ashleigh E. Schaffer
ResearchOpen Access22 Feb 2024
Nature Communications

Volume: 15, P: 1-21
Activity of high-dose cis-platinum (NCI 119875) in combination with vincristine and methotrexate in drug-resistant gestational choriocarcinoma. A report of 17 cases

E S Newlands
K D Bagshawe
Research01 Dec 1979
British Journal of Cancer

Volume: 40, P: 943-945
225 Changes In Survival And Neurodevelopmental Outcome in 22 to 25 Week Gestation Infants Over A 20 Year Period

K J Riley
S Roth
J S Wyatt
Research01 Sept 2004
Pediatric Research

Volume: 56, P: 502
Equivalence of the FCSRT and RAVLT to detect medial Temporal lobe atrophy and tauopathy

Etienne Aumont
Kelly Amiel
Pedro Rosa-Neto
ResearchOpen Access27 Oct 2025
Scientific Reports

Volume: 15, P: 1-14
Regulated control of gene therapies by drug-induced splicing

A switch system is developed to control the expression of therapeutic genes, involving the administration of a small-molecule drug to induce splicing-mediated control of mRNA translation.

Alex Mas Monteys
Amiel A. Hundley
Beverly L. Davidson
Research28 Jul 2021
Nature

Volume: 596, P: 291-295
Pelvic lymph node dissection in prostate cancer, still no level 1 evidence of oncological benefit. Time to consider surveillance of negative pelvic lymph nodes on PSMA PET scan staging

J. W. Yaxley
Editorial20 Dec 2025
Prostate Cancer and Prostatic Diseases

P: 1-2
Metabolic neuroimaging of the brain in diabetes mellitus and hypoglycaemia

Functional neuroimaging techniques have been used to gain insights into the brain's role in energy balance. This Review discusses the aetiology of hypoglycaemia unawareness, which can be a complication of therapy for type 1 diabetes mellitus, and examines the dysregulation of appetite control and energy balance associated with insulin resistance and type 2 diabetes mellitus.

Yee-Seun Cheah
Stephanie A. Amiel
Reviews26 Jun 2012
Nature Reviews Endocrinology

Volume: 8, P: 588-597
Correction of Hyperinsulinemia by Glyburide Treatment in Nondiabetic Patients with Thalassemia Major

Timothy W Jones
Susan D Boulware
William V Tamborlane
Research01 May 1993
Pediatric Research

Volume: 33, P: 497-500
Assessment of Motor Development in Very Low Birth Weight Infants

CJR Simons
MaryBeth Mandich
Martha D Mullett
Research29 Jun 2000
Journal of Perinatology

Volume: 20, P: 172-175
1281 EFFECTS OF ETHANOL ON NEURONAL PROCESS FORMATION AND NEUROTROPHIC FACTOR PRODUCTION IN VITRO

Kimberly E Dow
Richard J Riopelle
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 324
Targeted therapy in patients with PIK3CA-related overgrowth syndrome

A PI3KCA inhibitor reverses symptoms in a mouse model of PROS/CLOVES syndrome, which results from gain-of-function mutations in PI3KCA, and produces improvements in patients with PROS/CLOVES syndrome.

Quitterie Venot
Thomas Blanc
Guillaume Canaud
Research13 Jun 2018
Nature

Volume: 558, P: 540-546
The Dawn Phenomenon: Comparison between Normal and Insulin-Dependent Diabetic Adolescents

S Arslanian
Y Ohki
A L Drash
Research01 Mar 1992
Pediatric Research

Volume: 31, P: 203-206
ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

ADAR1 is an RNA editing protein known to regulate immune responses to dsRNA that has been connected to neural crest cell function. Here, the authors show RNA editing by ADAR1 is important for the normal development of neural crest derived melanocytes and Schwann cells.

Nadjet Gacem
Anthula Kavo
Nadege Bondurand
ResearchOpen Access10 Jan 2020
Nature Communications

Volume: 11, P: 1-14
Impact of feeding difficulties in the NICU on neurodevelopmental outcomes at 8 and 20 months corrected age in extremely low gestational age infants

Kousiki Patra
Michelle M. Greene
Research12 Jul 2019
Journal of Perinatology

Volume: 39, P: 1241-1248
Value of ¹H-MRS Using Different Echo Times in Neonates with Cerebral Hypoxia-Ischemia

Ariadne M Roelants-Van Rijn
Jeroen van der Grond
Floris Groenendaal
Research01 Mar 2001
Pediatric Research

Volume: 49, P: 356-362
Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH

G E Moore
P Ruangvutilert
J C Harper
Research17 May 2000
European Journal of Human Genetics

Volume: 8, P: 223-228
Cerebral Structure and Metabolism and Long-Term Outcome in Small-for-Gestational-Age Preterm Neonates

Ariadne M Roelants-van Rijn
Jeroen van der Grond
Floris Groenendaal
Research01 Aug 2004
Pediatric Research

Volume: 56, P: 285-290
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

eIF5A is critical for protein synthesis but has not yet been associated with congenital human disease. Here, the authors show that EIF5A variants cause a Mendelian disorder via reduced eIF5A-ribosome interactions and this phenotype is partially corrected by spermidine supplementation in yeast and zebrafish.

Víctor Faundes
Martin D. Jennings
Siddharth Banka
ResearchOpen Access05 Feb 2021
Nature Communications

Volume: 12, P: 1-13
Change in Disability between 12 and 30 Months in Extremely Preterm Children

Nicholas S Wood
Neil Marlow
Research01 Apr 1999
Pediatric Research

Volume: 45, P: 259
SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault
Nadège Bondurand
Michel Goossens
Research01 Feb 1998
Nature Genetics

Volume: 18, P: 171-173
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia and amelogenesis imperfecta that disrupt GAG synthesis.

Johanne Dubail
Céline Huber
Valérie Cormier-Daire
ResearchOpen Access06 Aug 2018
Nature Communications

Volume: 9, P: 1-15
DOES A DEFECT IN INSULIN LIKE GROWTH FACTOR-I (IGF-I) GENERATION EXIST IN INSULIN DEPENDENT DIABETES (IDDM)?

E Topper
M Press
W Tamborlane
Research01 Apr 1984
Pediatric Research

Volume: 18, P: 301
Severity of punctate white matter lesions in preterm infants: antecedents and cerebral palsy prediction

E. Melinda Mahabee-Gittens
Venkata Sita Priyanka Illapani
Weihong Yuan
ResearchOpen Access30 May 2025
Pediatric Research

Volume: 98, P: 2220-2227
Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Jill A Rosenfeld
Kathleen Leppig
Lisa G Shaffer
Research19 Oct 2009
Genetics in Medicine

Volume: 11, P: 797-805
Author Correction: Regulated control of gene therapies by drug-induced splicing

Alex Mas Monteys
Amiel A. Hundley
Beverly L. Davidson
Amendments and Corrections01 Feb 2022
Nature

Volume: 602, P: E25
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

Bert DeVries and colleagues identify mutations in the chromatin regulator KANSL1 in 17q21.31 microdeletion syndrome. This syndrome is characterized by intellectual disability, hypotonia and distinctive facial features.

David A Koolen
Jamie M Kramer
Bert B A de Vries
Research29 Apr 2012
Nature Genetics

Volume: 44, P: 639-641
Functional small-diameter neovessels created using endothelial progenitor cells expanded ex vivo

Sunjay Kaushal
Gilad E. Amiel
John E. Mayer Jr
Research01 Sept 2001
Nature Medicine

Volume: 7, P: 1035-1040
Prevalence and functional consequence of PHOX2B mutations in neuroblastoma

E H Raabe
M Laudenslager
J M Maris
Research16 Jul 2007
Oncogene

Volume: 27, P: 469-476
Bilateral iris sector heterochromia with or without Hirschsprung's disease

Jimmy S M Lai
Dennis S C Lam
Calvin C P Pang
Correspondence01 Nov 1998
Eye

Volume: 12, P: 1024-1027
Dysmorphology at a distance: results of a web-based diagnostic service

S Douzgou
J Clayton-Smith
M Zenker
Research10 Jul 2013
European Journal of Human Genetics

Volume: 22, P: 327-332

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