Yline Capri

Yline Capri

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Yline Capri

Yline Capri

Publications by authors named "Yline Capri"

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36Publications

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Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clin Genet 2019 Oct 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1111/cge.13591DOI Listing
October 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Oligo-astrocytoma in LZTR1-related Noonan syndrome.

Eur J Med Genet 2019 Jan 19. Epub 2019 Jan 19.

Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France; INSERM UMR1141, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.007DOI Listing
January 2019

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

Eur J Endocrinol 2016 May 22;174(5):641-50. Epub 2016 Feb 22.

EndocrineBone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, Toulouse, France INSERM UMR 1043Centre of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France

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http://dx.doi.org/10.1530/EJE-15-0922DOI Listing
May 2016

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Eur J Med Genet 2015 Sep 8;58(9):497-501. Epub 2015 Jul 8.

AP-HP, Service d'Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France; AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.001DOI Listing
September 2015

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Eur J Med Genet 2014 Jan 12;57(1):5-14. Epub 2013 Nov 12.

Department of Medical Genetics, APHP -- Robert Debré University Hospital, and Paris VII Denis Diderot University, Paris, France; INSERM UMR676 "PROTECT", Robert Debré Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.008DOI Listing
January 2014

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2663-5. Epub 2013 Aug 5.

AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36081DOI Listing
October 2013

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Eur J Med Genet 2013 Apr 19;56(4):226-8. Epub 2013 Jan 19.

Départment of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.005DOI Listing
April 2013

Pseudoaminopterin syndrome.

Am J Med Genet A 2012 Sep 18;158A(9):2233-8. Epub 2012 Jul 18.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35212DOI Listing
September 2012

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

Am J Med Genet A 2012 Sep 20;158A(9):2277-82. Epub 2012 Jul 20.

Department of Genetics, APHP Robert Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35494DOI Listing
September 2012

A familial syndromal form of omphalocele.

Eur J Med Genet 2011 May-Jun;54(3):337-40. Epub 2011 Feb 17.

Clinical Genetics Unit, University Hospital, Pointe-à-Pitre University Hospital, Guadalupe Island, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110001
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http://dx.doi.org/10.1016/j.ejmg.2011.02.001DOI Listing
September 2011