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Nicolas Gruchy

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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
American Journal of Medical Genetics Part A, 2024, ⟨10.1002/ajmg.a.63531⟩
Journal articles 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
Scientific Reports, 2023, 13 (1), pp.12984. ⟨10.1038/s41598-023-40037-4⟩
Journal articles hal-04441470v1

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
American Journal of Medical Genetics Part A, 2023, pp.1-14. ⟨10.1002/ajmg.a.63457⟩
Journal articles hal-04273045v1

Position effects at the FGF8 locus are associated with femoral hypoplasia

Magdalena Socha , Anna Sowińska-Seidler , Uirá Souto Melo , Bjørt Kragesteen , Martin Franke
American Journal of Human Genetics, 2021, 108 (9), pp.1725-1734. ⟨10.1016/j.ajhg.2021.08.001⟩
Journal articles hal-03351770v1
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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
International Journal of Molecular Sciences, 2021, 22 (2), pp.580. ⟨10.3390/ijms22020580⟩
Journal articles hal-03114578v1

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodriguez-Palmero , Melissa Maria Boerrigter , David Gómez-Andrés , Kimberly Aldinger , Íñigo Marcos-Alcalde
Genetics in Medicine, 2021, ⟨10.1038/s41436-020-01075-9⟩
Journal articles hal-03193180v1
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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
Bone Reports, 2021, 14, pp.101073. ⟨10.1016/j.bonr.2021.101073⟩
Journal articles hal-03283891v1
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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
International Journal of Molecular Sciences, 2021, 22 (7), pp.3693-3718. ⟨10.3390/ijms22073693⟩
Journal articles hal-03215150v1

Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

Sarah Snanoudj , Arnaud Molin , Cindy Colson , Nadia Coudray , Sylvie Paulien
Journal of Bone and Mineral Research, 2020, 35 (5), pp.913-919. ⟨10.1002/jbmr.3948⟩
Journal articles hal-04227813v1

Genetic counseling for cystic fibrosis: A basic model with new challenges

E. Bieth , J. Nectoux , A. Girardet , Nicolas Gruchy , H. Mittre
Archives de Pédiatrie, 2020, 27, pp.eS30-eS34. ⟨10.1016/S0929-693X(20)30048-8⟩
Journal articles hal-03640175v1

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

François Lecoquierre , Anne‐claire Brehin , Sophie Coutant , Juliette Coursimault , Anne Bazin
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Journal articles 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
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Journal articles 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
BONE, 2019, 123, pp.145-152. ⟨10.1016/j.bone.2019.03.023⟩
Journal articles hal-02267572v1

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
Prenatal Diagnosis, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
Journal articles hal-03179998v1

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
Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
Journal articles hal-02339190v1

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
European Journal of Human Genetics, 2018, 26 (3), pp.340-349. ⟨10.1038/s41431-017-0087-x⟩
Journal articles 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
Scientific Reports, 2017, 7 (1), pp.3406. ⟨10.1038/s41598-017-03579-y⟩
Journal articles hal-02285453v1

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
Prenatal Diagnosis, 2016, 36 (6), pp.523-529. ⟨10.1002/pd.4817⟩
Journal articles 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
Scientific Reports, 2016, 6 (1), pp.32786. ⟨10.1038/srep32786⟩
Journal articles inserm-02304812v1
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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
Molecular Genetics and Metabolism, 2014, 112 (2), pp.177-82. ⟨10.1016/j.ymgme.2014.03.009⟩
Journal articles hal-01021803v1

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
Prenatal Diagnosis, 2014, 34 (5), pp.424-430. ⟨10.1002/pd.4321⟩
Journal articles hal-03137229v1

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
European Journal of Human Genetics, 2012, 21 (6), pp.602 - 612. ⟨10.1038/ejhg.2012.230⟩
Journal articles 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
American Journal of Medical Genetics Part A, 2010, 152A (9), pp.2346-54. ⟨10.1002/ajmg.a.33601⟩
Journal articles inserm-00520816v1
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Caractérisation phénotypique et génotypique des réarrangements chromosomiques en 1q21.1: description d'une nouvelle cohorte de 34 patients et revue de la littérature

Alexia Bourgois , Marion Gérard , Varoona Bizaoui , Cindy Colson , Aline Vincent
11e Assises de Génétique Humaine et Médicale, Feb 2022, Rennes, France.
Conference poster hal-03640241v1
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The impact of functional characterization of variants in calcium sensing receptor gene (CASR) on the clinical diagnosis

Andreea Apetrei , Nicolas Richard , Stéphane Allouche , A. Groso , Paul Fontaine
European Human Genetics Conference (ESHG ) 2022, Jun 2022, Vienne, Austria
Conference poster hal-03705417v1
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Caractérisation fonctionnelle de sept variations faux-sens dans le gène du récepteur sensible au calcium (CASR)

Andreea Apetrei , Nicolas Richard , J. Bachetta , Stéphane Allouche , Sandrine Lemoine
11e édition des Assises de Génétique Humaine et Médicale, Feb 2022, Rennes, France
Conference poster hal-03705480v1
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Two novel deletions in the 5'untranslated region of GNAS gene as cause of pseudohypoparathyroidism type 1A

Thibaut Louise , Arnaud Molin , Nicolas Gruchy , Fontaine Paul , C Francannet
ESHG2021, Aug 2021, Caen, France
Conference poster hal-03428156v1

Cohorte française de 41 patients porteurs d’une délétion 2q37

Cindy Colson , Kara Ranguin , Nicolas Richard , Séverine Audebert-Bellanger , Marie-Noëlle Bonnet-Dupeyron
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference poster hal-02436411v1

Caractérisation phénotypique des chondrocytes fœtaux humains

Manon Godin , Romain Contentin , Bastien Bourdon , Florence Legendre , Arnaud Molin
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference poster hal-02436461v1
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Identification by whole genome sequencing of a 140Kb inversion in GNAS locus involving NPELP1 and Xlas gene in a family presenting an autosomal dominant pseudohypoparathyroidism type 1b

Andreea Apetrei , Arnaud Molin , Cindy Colson , H. Mittre , Matthieu Decamp
Assise de génétique Humaine et Médicale 2020, Jan 2020, Tours, France
Conference poster hal-03283983v1
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Syndrome Tricho-rhino-phalangien de type I: description clinique et moléculaire chez 15 cas non apparentés

Alexia Bourgois , Varoona Bizaoui , Kara Ranguin , Thibaud Armand , Stéphanie Arpin
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference poster hal-03213023v1

Identification par séquençage du génome entier d’une inversion de 140 Kb dans le locus GNAS impliquant NPELP1 et l’exon 1 du gène XLas dans une famille présentant une pseudohypoparathyroïdie de type Ib autosomique dominante (AD-PHP1b)

Andrea Apetrei , Arnaud Molin , Cindy Colson , Hervé Mittre , Matthieu Decamp
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference poster hal-02436425v1

P608 : Déficit en cholestérol et altération de la voie Sonic Hedgehog dans la trisomie 18

Kara Ranguin , Marie Nowoczyn , Marie-Hélène Read , Céline Ballandonne , Claire Soucy
9ème assises de Génétique humaine et Médicale, Jan 2018, nantes, France
Conference poster hal-02394227v1

P625 : Hydrocéphalie : manifestation rare dans le spectre phénotypique du Syndrome Simpson - Golabi - Behmel, à propos d’un cas

Andreea Apetrei , Cindy Colson , Florence Villedieu , Nicolas Gruchy , Guillaume Benoist
9ème Assises de Génétique Humaine et Médicale, Jan 2018, nantes, France
Conference poster hal-02394257v1