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European Journal of Human Genetics (11)
Genetics in Medicine (3)
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Showing 1–20 of 20 results

Advanced filters: Author: Bruno Delobel Clear advanced filters

Endothelial TRIM47 regulates blood-brain barrier integrity and cognition via the KEAP1/NRF2 signalling pathway in mice

Functional analysis of TRIM47 uncovers its role in regulating endothelial oxidative stress responses and Blood-Brain-Barrier stability in the mouse, linking KEAP1/NRF2 pathway dysregulation to cognitive decline in vascular dementia.

Valentin Delobel
Camille Grenier
Claire Peghaire
ResearchOpen Access10 Feb 2026
Communications Biology

Volume: 9, P: 1-20
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

Minh-Tuan Huynh
Elise Boudry-Labis
Catherine Vincent-Delorme
Research13 Jun 2018
European Journal of Human Genetics

Volume: 26, P: 1497-1501
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
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Aurélien Trimouille
Nada Houcinat
Sébastien Moutton
Research28 Nov 2017
European Journal of Human Genetics

Volume: 26, P: 85-93
A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins

Cécile Mignon-Ravix
Danielle Depetris
Marie-Geneviève Mattei
Research05 Apr 2002
European Journal of Human Genetics

Volume: 10, P: 107-112
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont
Alexandre Reymond
Philippe Froguel
Research31 Aug 2011
Nature

Volume: 478, P: 97-102
FLO5 gene controls flocculation phenotype and adhesive properties in a Saccharomyces cerevisiae sparkling wine strain

Paola Di Gianvito
Catherine Tesnière
Rosanna Tofalo
ResearchOpen Access07 Sept 2017
Scientific Reports

Volume: 7, P: 1-12
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Clémence Vanlerberghe
Anne-Sophie Jourdain
Florence Petit
Research14 Dec 2018
European Journal of Human Genetics

Volume: 27, P: 360-368
An excess of chromosome 1 breakpoints in male infertility

Iben Bache
Elvire Van Assche
Niels Tommerup
Research15 Sept 2004
European Journal of Human Genetics

Volume: 12, P: 993-1000
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy
Emilie Landais
Martine Doco-Fenzy
Research17 Oct 2012
European Journal of Human Genetics

Volume: 21, P: 602-612
At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Munib Mesinovic
Xin Ci Wong
David Zucman
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-43
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud
Eric Chater-Diehl
Amélie Piton
Research03 Aug 2021
Genetics in Medicine

Volume: 23, P: 2150-2159
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Perrine Pennamen
Linh Le
Benoit Arveiler
Research22 Jun 2020
Genetics in Medicine

Volume: 22, P: 1613-1622
The electrode tortuosity factor: why the conventional tortuosity factor is not well suited for quantifying transport in porous Li-ion battery electrodes and what to use instead

Tuan-Tu Nguyen
Arnaud Demortière
Samuel J. Cooper
ResearchOpen Access14 Aug 2020
npj Computational Materials

Volume: 6, P: 1-12
Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

Cécile Mignon-Ravix
Danielle Depetris
Marie-Geneviève Mattei
Research31 Jan 2007
European Journal of Human Genetics

Volume: 15, P: 432-440
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

Sébastien Albert
Hélène Blons
Françoise Denoyelle
Research29 Mar 2006
European Journal of Human Genetics

Volume: 14, P: 773-779
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
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Julien Thevenon
Patrick Callier
Laurence Faivre
Research20 Jun 2012
European Journal of Human Genetics

Volume: 21, P: 82-88
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
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz
Judith St-Onge
Jean-Baptiste Rivière
Research02 Feb 2017
Genetics in Medicine

Volume: 19, P: 989-997

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Endothelial TRIM47 regulates blood-brain barrier integrity and cognition via the KEAP1/NRF2 signalling pathway in mice

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

FLO5 gene controls flocculation phenotype and adhesive properties in a Saccharomyces cerevisiae sparkling wine strain

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

An excess of chromosome 1 breakpoints in male infertility

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

The electrode tortuosity factor: why the conventional tortuosity factor is not well suited for quantifying transport in porous Li-ion battery electrodes and what to use instead

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Search

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