Publications by authors named "Nicolas Gruchy"

26Publications

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.

J Bone Miner Res 2020 May 13;35(5):913-919. Epub 2020 Jan 13.

Normandie Université, UNICAEN, CHU de Caen Normandie, Department of Genetics, Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen, Caen, France.

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http://dx.doi.org/10.1002/jbmr.3948DOI Listing
May 2020

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

Bone 2019 06 21;123:145-152. Epub 2019 Mar 21.

Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, Reference Center fo Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen, 14000 Caen, France. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.03.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637416PMC
June 2019

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.

Sci Rep 2017 06 13;7(1):3406. Epub 2017 Jun 13.

Caen Normandy University, France; UNICAEN EA7450 BioTARGen (Biologie, Génétique et Thérapies ostéoArticulaires et Respiratoires), 3 rue Nelson Mandela, 14280, Saint-Contest, France.

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http://dx.doi.org/10.1038/s41598-017-03579-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469741PMC
June 2017

Immunoanalytical characteristics of unconjugated estriol: indications and analytical performances.

Ann Biol Clin (Paris) 2016 Dec;74(6):717-723

Service de biochimie, Centre hospitalier universitaire de Caen, France.

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http://dx.doi.org/10.1684/abc.2016.1194DOI Listing
December 2016

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

Sci Rep 2016 09 8;6:32786. Epub 2016 Sep 8.

Normandy University, Caen, France; UNICAEN EA4652 MILPAT (Laboratoire Microenvironnement Cellulaire et Pathologies); UFR de Médecine, Université de Caen, Caen Cedex 5, CS14032 Caen, France.

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http://dx.doi.org/10.1038/srep32786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015060PMC
September 2016

Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.

J Clin Ultrasound 2016 Feb 14;44(2):100-5. Epub 2015 Jul 14.

CHU de Caen, Département d'Obstétrique, Gynécologie et Médecine de la Reproduction, Caen, 14000, France.

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http://dx.doi.org/10.1002/jcu.22275DOI Listing
February 2016

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

Eur J Med Genet 2013 Oct 15;56(10):580-3. Epub 2013 Aug 15.

Service de Génétique, laboratoire de Cytogénétique, CHU de Caen, Université Caen Basse-Normandie, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.08.002DOI Listing
October 2013

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Am J Med Genet A 2013 Oct 8;161A(10):2582-7. Epub 2013 Aug 8.

Department of Genetics, Hôpital Côte de Nacre, Caen, France.

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http://dx.doi.org/10.1002/ajmg.a.36085DOI Listing
October 2013

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

J Clin Endocrinol Metab 2012 May 29;97(5):E863-7. Epub 2012 Feb 29.

Centre Hospitalier Universitaire (CHU) de Caen, Department of Genetics, Caen F-14033, France.

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http://dx.doi.org/10.1210/jc.2011-2804DOI Listing
May 2012

Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA.

Prenat Diagn 2012 Apr 24;32(4):383-8. Epub 2011 Oct 24.

Laboratoire de Cytogénétique Prénatale, Service de Génétique, CHU Caen Côte de Nacre, UFR de Médecine Caen, Caen, France.

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http://doi.wiley.com/10.1002/pd.2861
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http://dx.doi.org/10.1002/pd.2861DOI Listing
April 2012

A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations.

Am J Med Genet A 2010 Jan;152A(1):185-90

Laboratoire de cytogénétique prénatale niveau 3, Centre Hospitalier Universitaire de Caen, Avenue Côte de Nacre, 14033 Caen Cedex, France.

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http://doi.wiley.com/10.1002/ajmg.a.33154
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http://dx.doi.org/10.1002/ajmg.a.33154DOI Listing
January 2010

Supernumerary marker chromosomes management in prenatal diagnosis.

Am J Med Genet A 2008 Nov;146A(21):2770-6

Laboratoire de Cytogénétique Prénatale, Département de Génétique, CHU Caen, Caen Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.32532DOI Listing
November 2008

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Am J Med Genet A 2007 Oct;143A(20):2417-22

Laboratoire de Cytogénétique, AP-HP, Hôpital Saint-Antoine, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.31931DOI Listing
October 2007

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Clin Dysmorphol 2007 Oct;16(4):247-52

Cytogenetics Laboratory, AP-HP, Saint-Antoine's Hospital, Pierre and Marie Curie University, Paris, France.

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http://dx.doi.org/10.1097/MCD.0b013e328235a572DOI Listing
October 2007