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3q29 duplications: A cohort of 46 patients and a literature review
Marie Massier
,
Martine Doco-Fenzy
,
Matthieu Egloff
,
Xavier Le Guillou
,
Gwenaël Le Guyader
Article dans une revue
hal-04488411v1
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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Afif Ben-Mahmoud
,
Shotaro Kishikawa
,
Vijay Gupta
,
Natalia Leach
,
Yiping Shen
Article dans une revue
hal-04441470v1
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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
Alexia Bourgois
,
Varoona Bizaoui
,
Cindy Colson
,
Aline Vincent-Devulder
,
Arnaud Molin
Article dans une revue
hal-04273045v1
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Marine Collagen Hydrolysates Downregulate the Synthesis of Pro-Catabolic and Pro-Inflammatory Markers of Osteoarthritis and Favor Collagen Production and Metabolic Activity in Equine Articular Chondrocyte Organoids
Bastien Bourdon
,
Romain Contentin
,
Frédéric Cassé
,
Chloé Maspimby
,
Sarah Oddoux
Article dans une revue
hal-03114578v1
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DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodriguez-Palmero
,
Melissa Maria Boerrigter
,
David Gómez-Andrés
,
Kimberly Aldinger
,
Íñigo Marcos-Alcalde
Article dans une revue
hal-03193180v1
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Marine Collagen Hydrolysates Promote Collagen Synthesis, Viability and Proliferation While Downregulating the Synthesis of Pro-Catabolic Markers in Human Articular Chondrocytes
Bastien Bourdon
,
Frédéric Cassé
,
Nicolas Gruchy
,
Pierre Cambier
,
Sylvain Leclercq
Article dans une revue
hal-03215150v1
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A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family
Andreea Apetrei
,
Arnaud Molin
,
Nicolas Gruchy
,
Manon Godin
,
Claire Bracquemart
Article dans une revue
hal-03283891v1
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Position effects at the FGF8 locus are associated with femoral hypoplasia
Magdalena Socha
,
Anna Sowińska-Seidler
,
Uirá Souto Melo
,
Bjørt Kragesteen
,
Martin Franke
Article dans une revue
hal-03351770v1
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Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations
Sarah Snanoudj
,
Arnaud Molin
,
Cindy Colson
,
Nadia Coudray
,
Sylvie Paulien
Article dans une revue
hal-04227813v1
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Genetic counseling for cystic fibrosis: A basic model with new challenges
E. Bieth
,
J. Nectoux
,
A. Girardet
,
Nicolas Gruchy
,
H. Mittre
Article dans une revue
hal-03640175v1
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Exome sequencing identifies the first genetic determinants of sirenomelia in humans
François Lecoquierre
,
Anne‐claire Brehin
,
Sophie Coutant
,
Juliette Coursimault
,
Anne Bazin
Article dans une revue
hal-02538246v1
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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Kamran Moradkhani
,
Laurence Cuisset
,
Pierre Boisseau
,
Olivier Pichon
,
Marine Lebrun
Article dans une revue
hal-02343373v1
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High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B
Cindy Colson
,
Matthieu Decamp
,
Nicolas Gruchy
,
Nadia Coudray
,
Céline Ballandonne
Article dans une revue
hal-02267572v1
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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
Marguerite Hureaux
,
Sarah Guterman
,
Bérénice Hervé
,
Marianne Till
,
Sylvie Jaillard
Article dans une revue
hal-03179998v1
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A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations
Kevin Cassinari
,
Olivier Quenez
,
Géraldine Joly-Helas
,
Ludivine Beaussire
,
Nathalie Le Meur
Article dans une revue
hal-02339190v1
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Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
Jean-Luc Alessandri
,
Christopher T Gordon
,
Marie-Line Jacquemont
,
Nicolas Gruchy
,
Norbert Ajeawung
Article dans une revue
hal-02392961v1
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Enhanced chondrogenesis of bone marrow-derived stem cells by using a combinatory cell therapy strategy with BMP-2/TGF-β1, hypoxia, and COL1A1/HtrA1 siRNAs
Florence Legendre
,
David Ollitrault
,
Tangni Gómez-Leduc
,
Mouloud Bouyoucef
,
Magalie Hervieu
Article dans une revue
hal-02285453v1
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Pregnancy outcomes in prenatally diagnosed 47,XXX and 47,XYY syndromes: a 30-year French, retrospective, multicentre study
Marie-Agnès Collonge-Rame
,
Philippe Vago
,
Mylène Valduga
,
Nathalie Leporrier
,
François Vialard
Article dans une revue
hal-01295644v1
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Chondrogenic commitment of human umbilical cord blood-derived mesenchymal stem cells in collagen matrices for cartilage engineering
Tangni Gómez-Leduc
,
Magalie Hervieu
,
Florence Legendre
,
Mouloud Bouyoucef
,
Nicolas Gruchy
Article dans une revue
inserm-02304812v1
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A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
Justine Besseau-Ayasse
,
Céline Poirsier-Violle
,
Anne Bazin
,
Nicolas Gruchy
,
A. Moncla
Article dans une revue
hal-03137229v1
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Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.
Nicolas Gruchy
,
Nicolas Bigot
,
C. Jeanne Pasquier
,
Marie-Hélène Read
,
Sylvie Odent
Article dans une revue
hal-01021803v1
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
Camille Leroy
,
Émilie Landais
,
Sylvain Briault
,
Albert David
,
Olivier Tassy
Article dans une revue
hal-01707770v1
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Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.
Françoise Devillard
,
Vincent Guinchat
,
Daniel Moreno-De-Luca
,
Anne-Claude Tabet
,
Nicolas Gruchy
Article dans une revue
inserm-00520816v1
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