Michel Vekemans

Michel Vekemans

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Michel Vekemans

Michel Vekemans

Publications by authors named "Michel Vekemans"

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Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome.

JAMA Netw Open 2019 03 1;2(3):e191062. Epub 2019 Mar 1.

Department of Obstetrics and Gynecology, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1001/jamanetworkopen.2019.1062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450316PMC
March 2019

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.

Fetal Pediatr Pathol 2018 Dec 31;37(6):411-417. Epub 2018 Dec 31.

a Unité d'Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP , Paris , France.

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http://dx.doi.org/10.1080/15513815.2018.1520942DOI Listing
December 2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1038/s41431-018-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974246PMC
June 2018

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Birth Defects Res 2018 04 8;110(6):538-542. Epub 2018 Jan 8.

Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.

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http://doi.wiley.com/10.1002/bdr2.1191
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http://dx.doi.org/10.1002/bdr2.1191DOI Listing
April 2018

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Birth Defects Res 2017 Nov 31;109(19):1586-1595. Epub 2017 Jul 31.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France.

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http://dx.doi.org/10.1002/bdr2.1093DOI Listing
November 2017

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.

Cytogenet Genome Res 2017 9;151(3):115-118. Epub 2017 Mar 9.

Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000460278DOI Listing
September 2017

A tumor profile in Patau syndrome (trisomy 13).

Am J Med Genet A 2017 Aug 25;173(8):2088-2096. Epub 2017 May 25.

Support Organization for Trisomy 18, 13 and Related Disorders - Surgery Registry (SOFT-SR) Rochester, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.38294DOI Listing
August 2017

A unified birth defects research.

Birth Defects Res 2017 01;109(1)

Hôpital Universitaire Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/bdra.23595DOI Listing
January 2017

A tumor profile in Edwards syndrome (trisomy 18).

Am J Med Genet C Semin Med Genet 2016 09 30;172(3):296-306. Epub 2016 Jul 30.

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http://dx.doi.org/10.1002/ajmg.c.31511DOI Listing
September 2016

First fetal case of the 8q24.3 contiguous genes syndrome.

Am J Med Genet A 2016 Jan 5;170A(1):239-42. Epub 2015 Oct 5.

Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37411DOI Listing
January 2016

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.

Cytogenet Genome Res 2014 15;144(3):178-82. Epub 2014 Nov 15.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000369117DOI Listing
April 2015

The third editor of the Birth Defects Research Journal.

Authors:
Michel Vekemans

Birth Defects Res A Clin Mol Teratol 2013 Jan;97(1)

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http://dx.doi.org/10.1002/bdra.23106DOI Listing
January 2013

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

Birth Defects Res A Clin Mol Teratol 2012 Sep 18;94(9):683-92. Epub 2012 Jul 18.

Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1002/bdra.23040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3438356PMC
September 2012

[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].

Bull Acad Natl Med 2011 Apr-May;195(4-5):1005-13; discussion 1013-4

Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, Clamart. Univ. Paris-Sud, Clamart, INSERM, U782, Clamart, F-92140.

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April 2012

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Mol Genet Metab 2010 Oct-Nov;101(2-3):253-7. Epub 2010 Jun 22.

AP-HP, Hôpital Necker-Enfants Malades, Centre de médecine fœtale et Maternité de Necker-Brune, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.009DOI Listing
January 2011

PAX2 mutations in fetal renal hypodysplasia.

Am J Med Genet A 2010 Apr;152A(4):830-5

AP-HP, Unit of Embryo-Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Necker Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33133DOI Listing
April 2010

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Eur J Hum Genet 2010 Mar 21;18(3):285-90. Epub 2009 Oct 21.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987214PMC
March 2010

[Trisomy 21: fifty years between medicine and science].

Med Sci (Paris) 2010 Mar;26(3):267-72

Service de cytogénétique, Hôpital Necker-Enfants malades, 149, rue de Sèvres, 75743 Paris, France.

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http://dx.doi.org/10.1051/medsci/2010263267DOI Listing
March 2010

Human neural crest cells display molecular and phenotypic hallmarks of stem cells.

Hum Mol Genet 2008 Nov 8;17(21):3411-25. Epub 2008 Aug 8.

INSERM, U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1093/hmg/ddn235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2566525PMC
November 2008

Refinement of 2q and 7p loci in a large multiplex NTD family.

Birth Defects Res A Clin Mol Teratol 2008 Jun;82(6):441-52

Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1002/bdra.20462DOI Listing
June 2008

Pure proximal deletion of chromosome 21 and kyphosis.

Eur J Med Genet 2007 Nov-Dec;50(6):469-74. Epub 2007 Aug 15.

Service de cytogénétique, Hôpital Necker Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.08.001DOI Listing
March 2008

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

Eur J Med Genet 2007 Sep-Oct;50(5):379-85. Epub 2007 Jul 17.

Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.ejmg.2007.06.001DOI Listing
November 2007

Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy.

Am J Kidney Dis 2007 Feb;49(2):323-9

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service d'Immunologie Biologique, France.

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http://dx.doi.org/10.1053/j.ajkd.2006.10.022DOI Listing
February 2007

Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus.

J Clin Endocrinol Metab 2007 Jan 31;92(1):70-6. Epub 2006 Oct 31.

Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale Equipe Mixte 0363, Pediatric Endocrine Unit, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Necker Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1210/jc.2006-1450DOI Listing
January 2007

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.

Prenat Diagn 2006 Dec;26(13):1201-5

INSERM U781, Hôpital Necker - Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1002/pd.1588DOI Listing
December 2006

Aspects of digestive tract tumors in Down syndrome: a literature review.

Dig Dis Sci 2006 Nov 29;51(11):2053-61. Epub 2006 Sep 29.

Laboratoire d'Anatomie Pathologique, Centre Hospitalier, 19 000, Tulle, France.

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http://dx.doi.org/10.1007/s10620-006-9131-3DOI Listing
November 2006

Molecular karyotyping in human constitutional cytogenetics.

Eur J Med Genet 2005 Jul-Sep;48(3):214-31

Service de cytogénétique, laboratoire de cytogénétique, hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.013DOI Listing
November 2005

[New developments in cytogenetics].

Med Sci (Paris) 2005 Nov;21(11):940-6

Service de Cytogénétique et Inserm U.393, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://www.medecinesciences.org/10.1051/medsci/20052111940
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http://dx.doi.org/10.1051/medsci/20052111940DOI Listing
November 2005

Human neural tube defects: developmental biology, epidemiology, and genetics.

Neurotoxicol Teratol 2005 May-Jun;27(3):515-24. Epub 2005 Mar 5.

Hôpital Necker, Enfants Malades Unité INSERM U393, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.ntt.2004.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2727639PMC
August 2005

Long-chain fatty acid oxidation during early human development.

Pediatr Res 2005 Jun 21;57(6):755-9. Epub 2005 Apr 21.

Department of Pediatrics, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1203/01.PDR.0000161413.42874.74DOI Listing
June 2005

Gene expression in pharyngeal arch 1 during human embryonic development.

Hum Mol Genet 2005 Apr 9;14(7):903-12. Epub 2005 Feb 9.

Institute of Genetic Medicine, Johns Hopkins University, 733 N. Broadway, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1093/hmg/ddi083DOI Listing
April 2005

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

J Clin Endocrinol Metab 2005 Jan 19;90(1):455-62. Epub 2004 Oct 19.

Institut National de la Santé et de la Recherche Médicale, Unité 457, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1210/jc.2004-1358DOI Listing
January 2005

A low-grade follicular thyroid carcinoma in a woman with Down syndrome.

Tumori 2004 May-Jun;90(3):333-6

Laboratory of Pathology, Centre Hospitalier, Tulle, France.

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August 2004

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Nat Genet 2003 Apr 17;33(4):459-61. Epub 2003 Mar 17.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, et Département de Génétique, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://www.nature.com/articles/ng1130
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http://dx.doi.org/10.1038/ng1130DOI Listing
April 2003

Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review.

Hum Reprod 2003 Feb;18(2):271-5

Service de Biologie et Génétique de la Reproduction, Hôpital Antoine Béclère, Clamart, France.

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http://dx.doi.org/10.1093/humrep/deg070DOI Listing
February 2003