Publications by authors named "Claire Beneteau"

31Publications

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Am J Med Genet A 2020 Sep 6;182(9):2133-2138. Epub 2020 Jul 6.

Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1002/ajmg.a.61734DOI Listing
September 2020

Prenatal diagnosis of congenital dislocated spine and complex heterotaxy syndrome with 3D ultrasound and helical computed tomography (helical CT).

Ultrasound Obstet Gynecol 2020 Feb 22. Epub 2020 Feb 22.

Department of Gynecology and Obstetrics CHU Nantes, quai 38 bd jean Monnet, 44093, Nantes, cedex, France.

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http://dx.doi.org/10.1002/uog.22001DOI Listing
February 2020

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Prenat Diagn 2019 09 5;39(10):871-882. Epub 2019 Jul 5.

Fédération de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.

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http://dx.doi.org/10.1002/pd.5498DOI Listing
September 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.

Fetal Pediatr Pathol 2018 Dec 11;37(6):387-399. Epub 2019 Jan 11.

a Department of Pathology , Centre hospitalier Lyon Sud , Hospices Civils de Lyon, Pierre Bénite, Lyon , France.

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http://dx.doi.org/10.1080/15513815.2018.1504842DOI Listing
December 2018

Dehydrated hereditary stomatocytosis: Prenatal management of ascites and pleural effusions.

Taiwan J Obstet Gynecol 2018 Apr;57(2):323-324

Department Medical Genetics, CHU Nantes, quai 38 bd jean Monnet, 44093 Nantes cedex, France.

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http://dx.doi.org/10.1016/j.tjog.2018.02.026DOI Listing
April 2018

Constitutional telomeric association (Y;7) in a patient with a female phenotype.

Am J Med Genet A 2013 Jun 23;161A(6):1436-41. Epub 2013 Apr 23.

CHU Nantes, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.35889DOI Listing
June 2013

The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.

Eur J Obstet Gynecol Reprod Biol 2011 Aug 25;157(2):197-9. Epub 2011 Mar 25.

Université Lyon 1, C.H.U. Lyon Sud, Centre Français de Référence des Maladies Trophoblastiques, Service de Chirurgie Gynécologique et Oncologique-Obstétrique, 69495 Pierre-Bénite cedex, France.

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http://dx.doi.org/10.1016/j.ejogrb.2011.02.019DOI Listing
August 2011

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Am J Med Genet A 2010 Aug;152A(8):1933-41

Service de Médecine Infantile III et Génétique Clinique, Centre de référence Anomalies du développement et Syndromes malformatifs, Centre Hospitalier Universitaire de Nancy, Nancy-Université Henri Poincaré, Vandoeuvre les Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.33521DOI Listing
August 2010

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Eur J Hum Genet 2009 Oct 8;17(10):1216-21. Epub 2009 Apr 8.

Service de Médecine Infantile III et Génétique Clinique, Hôpital d'Enfants CHU de Nancy, Faculté de Médecine Nancy Université Henri Poincaré, Vandoeuvre, France.

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http://dx.doi.org/10.1038/ejhg.2009.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986637PMC
October 2009