CV Accueil - Archive ouverte HAL

	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⟩ Article dans une revue hal-04488411v1
	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⟩ Article dans une revue 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⟩ Article dans une revue hal-04273045v1
	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⟩ Article dans une revue hal-03215150v1
	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⟩ Article dans une revue hal-03351770v1
	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⟩ Article dans une revue 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⟩ Article dans une revue hal-03193180v1
	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⟩ Article dans une revue hal-03283891v1
	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⟩ Article dans une revue hal-03640175v1
	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⟩ Article dans une revue hal-04227813v1
	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⟩ Article dans une revue hal-02538246v1
	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⟩ Article dans une revue hal-02267572v1
	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⟩ Article dans une revue hal-02343373v1
	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⟩ Article dans une revue 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⟩ Article dans une revue 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⟩ Article dans une revue hal-02392961v1
	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⟩ Article dans une revue hal-02285453v1
	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⟩ Article dans une revue inserm-02304812v1
	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⟩ Article dans une revue hal-01295644v1
	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⟩ Article dans une revue 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⟩ Article dans une revue 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⟩ Article dans une revue hal-01707770v1
	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⟩ Article dans une revue inserm-00520816v1

	Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS Sarah Snanoudj , Arnaud Molin , Cindy Colson , Nadia Coudray , Sylvie Paulien 10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France Communication dans un congrès hal-02436511v1

	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 Poster de conférence hal-03705480v1
	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. Poster de conférence hal-03640241v1
	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 Poster de conférence hal-03705417v1
	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 Poster de conférence hal-03428156v1
	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 Poster de conférence hal-02436425v1
	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 Poster de conférence 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 Poster de conférence hal-02436461v1
	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 Poster de conférence hal-03283983v1
	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 Poster de conférence hal-03213023v1
	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 Poster de conférence 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 Poster de conférence hal-02394257v1

Nicolas Gruchy

Domaines de recherche

Compétences

Publications

3q29 duplications: A cohort of 46 patients and a literature review

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

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review

Marine Collagen Hydrolysates Promote Collagen Synthesis, Viability and Proliferation While Downregulating the Synthesis of Pro-Catabolic Markers in Human Articular Chondrocytes

Position effects at the FGF8 locus are associated with femoral hypoplasia

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

DLG4-related synaptopathy: a new rare brain disorder

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

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

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

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

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?

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

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

Chondrogenic commitment of human umbilical cord blood-derived mesenchymal stem cells in collagen matrices for cartilage engineering

Pregnancy outcomes in prenatally diagnosed 47,XXX and 47,XYY syndromes: a 30-year French, retrospective, multicentre study

Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

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

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS

Caractérisation fonctionnelle de sept variations faux-sens dans le gène du récepteur sensible au calcium (CASR)

Caractérisation phénotypique et génotypique des réarrangements chromosomiques en 1q21.1: description d'une nouvelle cohorte de 34 patients et revue de la littérature

The impact of functional characterization of variants in calcium sensing receptor gene (CASR) on the clinical diagnosis

Two novel deletions in the 5'untranslated region of GNAS gene as cause of pseudohypoparathyroidism type 1A

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)

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

Caractérisation phénotypique des chondrocytes fœtaux humains

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

Syndrome Tricho-rhino-phalangien de type I: description clinique et moléculaire chez 15 cas non apparentés

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

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