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European Journal of Human Genetics (22)
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Showing 1–50 of 93 results

Advanced filters: Author: Christine Petit Clear advanced filters

Stimulating photosynthetic processes increases productivity and water-use efficiency in the field

The introduction of combinations of enzymes of cyanobacterial, red algal and plant origin into Nicotiana tabacum increases photosynthetic carbon assimilation, biomass accumulation and water-use efficiency, under both glasshouse and field conditions.

Patricia E. López-Calcagno
Kenny L. Brown
Christine A. Raines
Research10 Aug 2020
Nature Plants

Volume: 6, P: 1054-1063
A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q

Parry Guilford
Saida Ben Arab
Christine Petit
Research01 Jan 1994
Nature Genetics

Volume: 6, P: 24-28
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

Anne Vincent
Dominique Hertz
Jean-Louis Mandel
Research14 Feb 1991
Nature

Volume: 349, P: 624-626
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

Dominique Weil
Polonca Küssel
Christine Petit
Research01 Jun 1997
Nature Genetics

Volume: 16, P: 191-193
Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness

Dominique Weil
Irène Wang
Christine Petit
Research01 Jul 1994
Nature Genetics

Volume: 7, P: 414-419
Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well
Stéphane Blanchard
Christine Petit
Research02 Mar 1995
Nature

Volume: 374, P: 60-61
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34

Mirna Mustapha
Eliane Chouery
Christine Petit
Research25 Apr 2002
European Journal of Human Genetics

Volume: 10, P: 210-212
A solar C/O ratio in planet-forming gas at 1 au in a highly irradiated disk

JWST reveals the chemistry of the disk of a young star in the Orion nebula, showing that it has water and CO in its inner regions that are shielded from UV radiation, whereas UV-processed molecules such as CH₃⁺ and PAHs are detected in surface layers.

Ilane Schroetter
Olivier Berné
Marion Zannese
Research14 Jul 2025
Nature Astronomy

Volume: 9, P: 1326-1336
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness

Mirna Mustapha
Nabiha Salem
Christine Petit
Research28 Jan 1999
European Journal of Human Genetics

Volume: 6, P: 548-551
A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak
Vasiliki Kalatzis
Christine Petit
Research01 Feb 1997
Nature Genetics

Volume: 15, P: 157-164
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

Loss-of-function variants in thyroid hormone transporter MCT8 cause a neurodevelopmental and metabolic disorder. Here the authors identify genotype-phenotype relationships, advance insights in MCT8 (dys)function and create a pathogenicity-severity variant classifier.

Stefan Groeneweg
Ferdy S. van Geest
W. Edward Visser
ResearchOpen Access12 Mar 2025
Nature Communications

Volume: 16, P: 1-21
Detection of Anaplasma and Ehrlichia bacteria in humans, wildlife, and ticks in the Amazon rainforest

In this study, the authors detect diverse Ehrlichia and Anaplasma bacteria in samples from Amazonian wildlife, humans and ticks that are mostly distinct from pathogens detected in the Northern Hemisphere and that might indicate emerging health hazards from tick-borne diseases in the Amazon rainforests.

Marie Buysse
Rachid Koual
Olivier Duron
ResearchOpen Access11 May 2024
Nature Communications

Volume: 15, P: 1-12
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

Nathalie Neyroud
Frédérique Tesson
Pascale Guicheney
Research01 Feb 1997
Nature Genetics

Volume: 15, P: 186-189
Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Aymeric Lanore
Christelle Tesson
Eva Camgrand
ResearchOpen Access02 Aug 2025
npj Parkinson's Disease

Volume: 11, P: 1-14
A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36

Mirna Mustapha
Sébastien Chardenoux
Christine Petit
Research29 Jun 1998
European Journal of Human Genetics

Volume: 6, P: 245-250
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

Avital Adato
Leonid Raskin
Batsheva Bonne-Tamir
Research21 Jun 2000
European Journal of Human Genetics

Volume: 8, P: 437-442
Structure of the X–linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

Ignacio del Castillo
Martine Cohen-Salmon
Christine Petit
Research01 Dec 1992
Nature Genetics

Volume: 2, P: 305-310
EXOSC10/Rrp6 is post-translationally regulated in male germ cells and controls the onset of spermatogenesis

Soazik P. Jamin
Fabrice G. Petit
Michael Primig
ResearchOpen Access08 Nov 2017
Scientific Reports

Volume: 7, P: 1-15
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Steve Brown and colleagues report an analysis of 20 phenotyping tests, including 413 data parameters, across 449 mutant mouse alleles. They identify widespread pleiotropy and assign putative functions to genes that lacked previous phenotypic annotation.

Martin Hrabě de Angelis
George Nicholson
Steve D M Brown
Research27 Jul 2015
Nature Genetics

Volume: 47, P: 969-978
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2

Mounira Hmani
Abdelmonem Ghorbel
Hammadi Ayadi
Research05 May 1999
European Journal of Human Genetics

Volume: 7, P: 363-367
Genes responsible for human hereditary deafness: symphony of a thousand

Christine Petit
Reviews01 Dec 1996
Nature Genetics

Volume: 14, P: 385-391
Targeted disruption of Otog results in deafness and severe imbalance

Marie-Christine Simmler
Martine Cohen-Salmon
Jean-Jacques Panthier
Research01 Feb 2000
Nature Genetics

Volume: 24, P: 139-143
Connexin 26 gene linked to a dominant deafness

Françoise Denoyelle
Genevieve Lina-Granade
Christine Petit
Research28 May 1998
Nature

Volume: 393, P: 319-320
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Catherine Dodé
Jacqueline Levilliers
Jean-Pierre Hardelin
Research10 Mar 2003
Nature Genetics

Volume: 33, P: 463-465
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
Hepatitis B virus X protein identifies the Smc5/6 complex as a host restriction factor

Hepatitis B virus X protein stimulates transcription from the viral DNA episome by hijacking the host ubiquitin machinery to target the Smc5/6 complex for degradation.

Adrien Decorsière
Henrik Mueller
Michel Strubin
Research16 Mar 2016
Nature

Volume: 531, P: 386-389
The hepatitis B virus

Pierre Tiollais
Christine Pourcel
Anne Dejean
Reviews01 Oct 1985
Nature

Volume: 317, P: 489-495
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

Elisabeth Verpy
Saber Masmoudi
Christine Petit
Research10 Sept 2001
Nature Genetics

Volume: 29, P: 345-349
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

Elisabeth Verpy
Dominique Weil
Christine Petit
Research08 Oct 2008
Nature

Volume: 456, P: 255-258
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Elisabeth Verpy
Michel Leibovici
Christine Petit
Research01 Sept 2000
Nature Genetics

Volume: 26, P: 51-55
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations. Here the authors show that loss-of-function variations in upstream enhancer sequences are responsible for a limb specific form of human NPS.

Endika Haro
Florence Petit
Kerby C. Oberg
ResearchOpen Access20 Sept 2021
Nature Communications

Volume: 12, P: 1-11
A caveolin-dependent and PI3K/AKT-independent role of PTEN in β-catenin transcriptional activity

The mechanism by which PTEN mutation is melanomagenic is complicated by different PTEN functions in different cellular locations. Here, the authors identify an alternative to membrane PI3K–AKT signalling, a caveolin-1-dependent PTEN pathway that induces nuclear localization and activation of β-catenin.

Alejandro Conde-Perez
Gwendoline Gros
Lionel Larue
ResearchOpen Access26 Aug 2015
Nature Communications

Volume: 6, P: 1-14
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular imbalance of inositol polyphosphate metabolism.

Ekin Ucuncu
Karthyayani Rajamani
Vincent Cantagrel
ResearchOpen Access30 Nov 2020
Nature Communications

Volume: 11, P: 1-16
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

Christel Thauvin-Robinet
Aurore Garde
Nicolas Bourgon
Research04 Apr 2025
European Journal of Human Genetics

Volume: 33, P: 675-682
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Philomena Mburu
Mirna Mustapha
Steve D M Brown
Research29 Jun 2003
Nature Genetics

Volume: 34, P: 421-428
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains generated by ENU mutagenesis to identify mice with age-related diseases, which they attribute to specific mutations revealed by whole-genome sequencing.

Paul K. Potter
Michael R. Bowl
Steve D. M. Brown
ResearchOpen Access18 Aug 2016
Nature Communications

Volume: 7, P: 1-13
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Sedigheh Delmaghani
Francisco J del Castillo
Christine Petit
Research25 Jun 2006
Nature Genetics

Volume: 38, P: 770-778
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Shin'ichiro Yasunaga
M'hamed Grati
Christine Petit
Research01 Apr 1999
Nature Genetics

Volume: 21, P: 363-369
A viscous solvent enables information transfer from gene-length nucleic acids in a model prebiotic replication cycle

An unanswered question in the RNA world scenario is how sequence information could be transferred during replication of duplex RNA. Without the aid of sophisticated enzymes, strand reannealing occurs more quickly than template-directed synthesis. Now, a plausible prebiotic solution to this problem is presented, in which a viscous solvent enables information transfer from a gene-length double-stranded template.

Christine He
Isaac Gállego
Nicholas V. Hud
Research10 Oct 2016
Nature Chemistry

Volume: 9, P: 318-324
Cochlear gene therapy restores hearing and auditory processing in an atypical DFNB9 mouse model

Benamer et al. develop a knock-in mouse model carrying the E1799del otoferlin mutation to study the atypical DFNB9 variant form of deafness. They show the mouse model exhibits abnormal otoferlin distribution, failure of synaptic transmission in inner hair cells, and profound hearing loss, all of which can be restored with AAV gene therapy.

Najate Benamer
Hélène Le Ribeuz
Saaid Safieddine
ResearchOpen Access12 Jun 2025
Communications Medicine

Volume: 5, P: 1-11
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

Olaia Subirà
Jaume Català-Mora
Joan Prat
Research18 Jul 2019
Eye

Volume: 34, P: 499-506
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

Delphine Feldmann
Françoise Denoyelle
Sandrine Marlin
Research24 Dec 2003
European Journal of Human Genetics

Volume: 12, P: 279-284
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor

Elise Chapiro
Delphine Feldmann
Sandrine Marlin
Research03 Dec 2002
European Journal of Human Genetics

Volume: 10, P: 851-856
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1

Saber Masmoudi
Abdelaziz Tlili
Hammadi Ayadi
Research14 Feb 2003
European Journal of Human Genetics

Volume: 11, P: 185-188
Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort

Xavier Pivot
Gilles Romieu
David G. Cox
ResearchOpen Access23 Feb 2017
npj Breast Cancer

Volume: 3, P: 1-5
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela E Jones
Pia Ostergaard
Sahar Mansour
Research27 Nov 2013
European Journal of Human Genetics

Volume: 22, P: 881-887
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations

Myrna Medlej-Hashim
Mirna Mustapha
André Mégarbané
Research24 Jun 2002
European Journal of Human Genetics

Volume: 10, P: 391-394
Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation

Mechanoelectrical transducer (MET) channels on the tips of inner hair cells are essential for transducing auditory sensory information. Here, the authors show that disrupting MET channel function also prevents the preservation of normal inner hair cell identity in adult mice.

Laura F. Corns
Stuart L. Johnson
Walter Marcotti
ResearchOpen Access01 Oct 2018
Nature Communications

Volume: 9, P: 1-15
Time-to-event analysis mitigates the impact of symptomatic therapy on therapeutic benefit in Parkinson’s disease trials

Gennaro Pagano
Dylan Trundell
Stefano Zanigni
ResearchOpen Access01 Jul 2025
npj Parkinson's Disease

Volume: 11, P: 1-8
Ciliary proteins link basal body polarization to planar cell polarity regulation

Chonnettia Jones
Venus C Roper
Ping Chen
Research09 Dec 2007
Nature Genetics

Volume: 40, P: 69-77

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