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Pediatric Research (18)
Journal of Human Genetics (12)
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Showing 1–50 of 92 results

Advanced filters: Author: U Willi Clear advanced filters

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Trilochan Sahoo
Daniela del Gaudio
Arthur L Beaudet
Research25 May 2008
Nature Genetics

Volume: 40, P: 719-721
MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans

Yo Niida
Akihiro Yachie
ResearchOpen Access12 Dec 2011
Nature Precedings

P: 1
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

D. Durham-Pierre
J. M. Gardner
M. H. Brilliant
Research01 Jun 1994
Nature Genetics

Volume: 7, P: 176-179
Cemented Foraminiferal Oozes from the Mid-Atlantic Ridge

RICHARD CIFELLI
VAUGHAN T. BOWEN
RAYMOND SIEVER
Research01 Jan 1966
Nature

Volume: 209, P: 32-34
Maternal UPD 20 in a hyperactive child with severe growth retardation

I Chudoba
Y Franke
U Claussen
Research22 Jun 1999
European Journal of Human Genetics

Volume: 7, P: 533-540
Understanding the genetic complexity of puberty timing across the allele frequency spectrum

A multi-ancestry genome-wide association study for age at menarche followed by fine mapping and downstream analysis implicates 665 pubertal timing genes, such as the G-protein-coupled receptor 83 (GPR83) and other genes expressed in the ovaries involved in the DNA damage response.

Katherine A. Kentistou
Lena R. Kaisinger
Ken K. Ong
ResearchOpen Access01 Jul 2024
Nature Genetics

Volume: 56, P: 1397-1411
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

Martine Doco-Fenzy
Camille Leroy
David Geneviève
Research16 Oct 2013
European Journal of Human Genetics

Volume: 22, P: 471-479
Recently Observed Satellites

WILLIAM H. PICKERING
Research23 Feb 1905
Nature

Volume: 71, P: 390
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

Erica E. D’Souza
Tina O. Findley
Sarah U. Morton
Research18 Mar 2024
Journal of Perinatology

Volume: 44, P: 1196-1202
Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

Birk-Barel intellectual disability is an imprinting syndrome due to maternally-only transmitted mutations of KCNK9/TASK3. Here authors are using a heterozygous deletion of the active maternal Kcnk9 allele to model the disease and show phenotypic rescue by HDAC inhibition.

Alexis Cooper
Tamer Butto
Susann Schweiger
ResearchOpen Access24 Jan 2020
Nature Communications

Volume: 11, P: 1-14
FMRP targets distinct mRNA sequence elements to regulate protein expression

RNA-recognition elements are identified for the fragile-X-syndrome-associated RNA-binding protein FMRP, in addition to its target messenger RNAs; although many of FMRP gene targets discovered are involved in brain function and autism spectrum disorder, a proportion are also dysregulated in mouse ovaries, suggesting cross-regulation of signalling pathways in different tissues.

Manuel Ascano
Neelanjan Mukherjee
Thomas Tuschl
Research12 Dec 2012
Nature

Volume: 492, P: 382-386
Genetic dissection identifies Necdin as a driver gene in a mouse model of paternal 15q duplications

Duplication of chromosome 15q11-q13 is associated with autism spectrum disorder (ASD). Here, the authors show that in mice paternal Dup15q results in ASD-like neuronal and behavioural impairment driven by Necdin.

Kota Tamada
Keita Fukumoto
Toru Takumi
ResearchOpen Access01 Jul 2021
Nature Communications

Volume: 12, P: 1-16
Genetic dissection of monoamine neurotransmitter synthesis in Drosophila

Margaret S. Livingstone
Bruce L. Tempel
Research05 May 1983
Nature

Volume: 303, P: 67-70
Effects of route of administration on oxytocin-induced changes in regional cerebral blood flow in humans

Intranasal oxytocin can affect brain function either by direct entry to the brain or by increasing oxytocin levels in blood plasma. Here, the authors show that increases in plasmatic oxytocin account for some but not all of the changes observed following intranasal oxytocin administration.

D. A. Martins
N. Mazibuko
Y. Paloyelis
ResearchOpen Access03 Mar 2020
Nature Communications

Volume: 11, P: 1-16
Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome

In a mouse model of intellectual disability, the chromatin remodeling protein ATR-X is shown to bind to G-quadruplex DNA structures and modulate target gene expression, which can be pharmacologically targeted to restore neuronal and cognitive phenotypes in these animals.

Norifumi Shioda
Yasushi Yabuki
Kohji Fukunaga
Research21 May 2018
Nature Medicine

Volume: 24, P: 802-813
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome

Makiko Meguro
Akiko Kashiwagi
Mitsuo Oshimura
Research01 May 2001
Nature Genetics

Volume: 28, P: 19-20
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

Trilochan Sahoo
Carlos A Bacino
Sarika U Peters
Research23 May 2007
European Journal of Human Genetics

Volume: 15, P: 943-949
Nigral and striatal dopamine release under sensory stimuli

A. NIEOULLON
A. CHERAMY
J. GLOWINSKI
Research01 Sept 1977
Nature

Volume: 269, P: 340-342
Promotion of mitochondrial biogenesis by necdin protects neurons against mitochondrial insults

Mitochondrial dysfunction occurs in Parkinson's disease, although the underlying mechanisms are unclear. Here, the authors find necdin works to stabilise the mitochondrial regulator PGC-1α, and that overexpression of necdin protects against MPTP-mediated neurodegeneration both in vitro and in vivo.

Koichi Hasegawa
Toru Yasuda
Kazuaki Yoshikawa
ResearchOpen Access14 Mar 2016
Nature Communications

Volume: 7, P: 1-15
Prophylactic Activity of Suramin Complexes in ‘Surra’ (Trypanosoma evansi)

B. S. GILL
M. N. MALHOTRA
Research19 Oct 1963
Nature

Volume: 200, P: 285-286
Divergent mechanisms of reduced growth performance in Betula ermanii saplings from high-altitude and low-latitude range edges

Takaki Aihara
Kyoko Araki
Yoshihiko Tsumura
ResearchOpen Access09 Nov 2023
Heredity

Volume: 131, P: 387-397
Response to “How to judge a tumor marker” Katz and Kattan

Lisa M McShane
Douglas G Altman
Gary M Clark
Research04 Oct 2005
Nature Clinical Practice Oncology

Volume: 3, P: E1
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Long-read sequencing identifies a GGC repeat expansion in NOTCH2NLC that is associated with neuronal intranuclear inclusion disease, a progressive neurodegenerative disorder. The expansion results in abnormal anti-sense transcripts that could contribute to disease pathogenesis.

Jun Sone
Satomi Mitsuhashi
Gen Sobue
Research22 Jul 2019
Nature Genetics

Volume: 51, P: 1215-1221
TESTICULAR ULTRASONOGRAPHY (US) DEMONSTRATING HETEROTOPIC ADRENAL-LIKE TISSUE (HALT) IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH)

U Willi
M Atarés
M Zachmann
Research01 Nov 1986
Pediatric Research

Volume: 20, P: 1202
New Tools for the Study of Niemann-Pick Disease: Analogues of Natural Substrate and Epstein-Barr Virus-transformed Lymphoid Cell Lines

Thierry Levade
Robert Salvayre
Louis Douste-Blazy
Research01 Jan 1985
Pediatric Research

Volume: 19, P: 153-157
Deceptive orbital confinement at edges and pores of carbon-based 1D and 2D nanoarchitectures

The apparent electronic confinement at nanographene boundaries in scanning tunneling microscopy/spectroscopy is often misinterpreted. Here, the authors explain this phenomenon in terms of the decay of frontier orbitals and confinement at the edges of graphene nanoribbons and pores in nanoporous graphene.

Ignacio Piquero-Zulaica
Eduardo Corral-Rascón
Johannes V. Barth
ResearchOpen Access05 Feb 2024
Nature Communications

Volume: 15, P: 1-9
Bizarre tail weaponry in a transitional ankylosaur from subantarctic Chile

Stegouros elengassen, an ankylosaur from the late Cretaceous of Chile, has a large tail weapon, named a macuahuitl after the Aztec club, with a frond-like structure formed by seven pairs of laterally projecting osteoderms encasing the distal half of the tail.

Sergio Soto-Acuña
Alexander O. Vargas
David Rubilar-Rogers
Research01 Dec 2021
Nature

Volume: 600, P: 259-263
Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation

O. Miyoshi
Satoshi Hayashi
Norio Niikawa
Research01 Jun 1998
Journal of Human Genetics

Volume: 43, P: 138-142
A 1,000-year sediment record of tsunami recurrence in northern Sumatra

Katrin Monecke
Willi Finger
Sam U. Sudrajat
Research30 Oct 2008
Nature

Volume: 455, P: 1232-1234
Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event

I. Henry
A. Puech
C. Junien
Research01 Jan 1993
European Journal of Human Genetics

Volume: 1, P: 19-29
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

Anouck Schneider
Brigitte Benzacken
Martine Doco-Fenzy
Research16 Jan 2008
European Journal of Human Genetics

Volume: 16, P: 680-687
Expression of the Snurf–Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain

Christophe K. Mapendano
Tatsuya Kishino
Tohru Ohta
Research01 Mar 2006
Journal of Human Genetics

Volume: 51, P: 236-243
41 EUROPEAN COLLABORATIVE STUDY ON THE EFFECT OF SYNTHETIC I-44 GROWTH-HORMONE-RELEASING-FACTOR(GRF) ON PLASMA GROWTH HORMONE(GH) IN PREPUBERTAL CHILDREN WITH GROWTH FAILURE. (GRF European Multicenter Study)

Pierre Chatelain
Research01 Jun 1985
Pediatric Research

Volume: 19, P: 610
43 SHORT STATURE AND CELIAC DISEASE: CAN THE SIMPLE DETECTION OF THE ANTIBODIES TO GLIADIN RESOLVE THIS RELATIONSHIP?

E Cacciari
S Salardi
G R Corazza
Research01 Jun 1985
Pediatric Research

Volume: 19, P: 610
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

Francesco Calì
Alda Ragalmuto
Maurizio Elia
ResearchOpen Access11 Nov 2010
Experimental & Molecular Medicine

Volume: 42, P: 842-848
139 PORTOSYSTEMIC ENCEPHALOPATHY DUE TO PERSISTENCE OF AN OPEN DUCTUS VENOSUS ARANTII

R Gitzelmann
U V Arbenz
W Hetzel
Research01 Dec 1991
Pediatric Research

Volume: 30, P: 651
Pseudohypoparathyroidism type 1a and insulin resistance in a child

This article presents the case of a child with pseudohypoparathyroidism type 1a and associated endocrinopathies, namely, growth hormone deficiency, hypothyroidism, parathyroid hormone resistance and insulin resistance. The article details the natural history and management of these endocrinopathies, including the controversy over growth-hormone therapy, and potential mechanisms for insulin resistance in pseudohypoparathyroidism type 1a.

Benjamin U. Nwosu
Mary M. Lee
Reviews01 Jun 2009
Nature Reviews Endocrinology

Volume: 5, P: 345-350
Construction of 700 human/mouse A9 monochromosomal hybrids and analysis of imprinted genes on human chromosome 6

J. Inoue
K. Mitsuya
M. Oshimura
Research01 Mar 2001
Journal of Human Genetics

Volume: 46, P: 137-145
A novel in vitro system for analyzing parental allele-specific histone acetylation in genomic imprinting

H. Yoshioka
Y. Shirayoshi
M. Oshimura
Research01 Nov 2001
Journal of Human Genetics

Volume: 46, P: 626-632
REDUCED EXPRESSION OF THE HEPATIC GROWTH HORMONE (GH) RECEPTOR IN EXPERIMENTAL UREMIA

B Toenshoff
B Carlsson
O Mehls
Research01 May 1993
Pediatric Research

Volume: 33, P: S52
Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

Marjan Huizing
Charles D Scher
William A Gahl
Research01 Feb 2002
Pediatric Research

Volume: 51, P: 150-158
Drug Insight: the functions of ghrelin and its potential as a multitherapeutic hormone

Ghrelin is produced mostly in the stomach and hypothalamus and has important roles in the release of growth hormone and in control of appetite. This article outlines the many potential clinical applications for ghrelin, which reflect its physiological activities.

Masayasu Kojima
Kenji Kangawa
Reviews01 Feb 2006
Nature Clinical Practice Endocrinology & Metabolism

Volume: 2, P: 80-88
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome

Sumito Dateki
Masayo Kagami
Hiroyuki Moriuchi
Research08 Jun 2017
Journal of Human Genetics

Volume: 62, P: 919-922
Statistical Analysis of Mitochondrial Pathologies in Childhood: Identification of Deficiencies Using Principal Component Analysis

Thierry Letellier
Gilles Durrieu
Jean-Pierre Mazat
Research01 Jul 2000
Laboratory Investigation

Volume: 80, P: 1019-1030
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Laïla El Khattabi
Fabien Guimiot
Andrée Delahaye
Research05 Nov 2014
European Journal of Human Genetics

Volume: 23, P: 1010-1018
Further studies on the physiological role of dehydroepiandrosterone sulfate (DHAS): lack of effect on growth in patients with short stature and delayed adrenarche

E de Peretti
M G Forest
E Cadillon
Research01 Nov 1978
Pediatric Research

Volume: 12, P: 1100
The kinetics of rAAV integration in the liver

Carol H. Miao
Richard O. Snyder
Mark A. Kay
Correspondence01 May 1998
Nature Genetics

Volume: 19, P: 13-15
ANDROGEN AROMATIZATION IN GYNECOMASTIA: IN VITRO STUDIES

Ch Sultan
J C Nicolas
A Crastes De Paulet
Research01 Nov 1978
Pediatric Research

Volume: 12, P: 1100
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

Constance F. Wells
Guilaine Boursier
Marjolaine Willems
Research22 Jun 2022
European Journal of Human Genetics

Volume: 30, P: 1076-1082
Prolonged latency of the gustatory evoked potentials for sucrose solution in subjects living with obesity compared with normal-weight subjects

Thomas Mouillot
Marie-Claude Brindisi
Agnès Jacquin-Piques
Research25 Aug 2024
International Journal of Obesity

Volume: 48, P: 1720-1727

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