Cindy Colson

Cindy Colson

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Cindy Colson

Cindy Colson

Publications by authors named "Cindy Colson"

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

J Bone Miner Res 2019 Dec 30. Epub 2019 Dec 30.

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
December 2019

Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.

Eur J Med Genet 2019 Jul 16;62(7):103648. Epub 2019 Apr 16.

Service Génétique, Génétique Clinique, CHU, Caen, France; Normandy University, UNICAEN, BIOTARGEN, Caen, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183083
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http://dx.doi.org/10.1016/j.ejmg.2019.04.005DOI Listing
July 2019

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

Amniotic bands and associated polymicrogyria: In favor of a unique ischemic cause.

Eur J Obstet Gynecol Reprod Biol 2019 May 20;236:252-254. Epub 2019 Mar 20.

CHU Lille, Department of Obstetrics, F-59000, Lille, France.

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http://dx.doi.org/10.1016/j.ejogrb.2019.03.015DOI Listing
May 2019

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.

J Clin Endocrinol Metab 2015 Apr 20;100(4):E623-31. Epub 2015 Jan 20.

Department of Genetics (A.-C.B., C.C., N.R., M.-L.K.), Centre Hospitalier Universitaire de Caen, Reference Centre for Rare Disorders of Calcium and Phosphorus Metabolism, F-14000 Caen, France; Paediatric Endocrinology and Diabetology (S.M.-M., V.G., A.L.), Reference Centre for Rare Disorders of the Mineral Metabolism, AP-HP Hôpital Bicêtre, le Kremlin-Bicêtre 94270, France; Faculté de Médecine, Université Paris Sud, le Kremlin-Bicêtre 94270, France; and Pediatric Nephrology Unit and Endocrine Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.

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http://dx.doi.org/10.1210/jc.2014-4047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399294PMC
April 2015