Sandra Chantot-Bastaraud

Sandra Chantot-Bastaraud

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Sandra Chantot-Bastaraud

Sandra Chantot-Bastaraud

Publications by authors named "Sandra Chantot-Bastaraud"

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A 14q distal chromoanagenesis elucidated by whole genome sequencing.

Eur J Med Genet 2019 Sep 25:103776. Epub 2019 Sep 25.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France; GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103776DOI Listing
September 2019

Normal Growth despite Combined Pituitary Hormone Deficiency.

Horm Res Paediatr 2019 Apr 25:1-10. Epub 2019 Apr 25.

Explorations Fonctionnelles et génétique endocriniennes, Hôpital Armand-Trousseau, AP-HP, Paris, France,

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https://www.karger.com/Article/FullText/499318
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http://dx.doi.org/10.1159/000499318DOI Listing
April 2019

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion.

Front Endocrinol (Lausanne) 2019 30;10:263. Epub 2019 Apr 30.

Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

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https://www.frontiersin.org/article/10.3389/fendo.2019.00263
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http://dx.doi.org/10.3389/fendo.2019.00263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503735PMC
April 2019

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Am J Med Genet A 2017 Aug 9;173(8):2268-2274. Epub 2017 Jun 9.

Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.38307DOI Listing
August 2017

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.

Case Rep Psychiatry 2017 25;2017:7582780. Epub 2017 May 25.

Department of Child and Adolescent Psychiatry, Reference Centre for Rare Psychiatric Diseases, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, 47-83 Bd de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1155/2017/7582780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463149PMC
May 2017

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Eur J Med Genet 2015 Jun-Jul;58(6-7):341-5. Epub 2015 Apr 23.

APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.04.003DOI Listing
March 2016

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150040
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http://dx.doi.org/10.1016/j.ajhg.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667131PMC
November 2015

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Neurology 2015 Apr 3;84(17):1751-9. Epub 2015 Apr 3.

From Institut du Cerveau et de la Moelle épinière (M.C., A.B., G.S., A.D.), ICM, Paris; CNRS (M.C., A.B., G.S., A.D.), UMR 7225, Paris; Sorbonne Universités (M.C., A.B., G.S., A.D.), UPMC Univ Paris 06, UMRS_1127, Paris; INSERM (M.C., E.M., A.B., G.S., A.D.), U 1127, Paris, France; Laboratory of Human Molecular Genetics (M.C.), de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Laboratoire de Neurogénétique (M.C., G.S.), Ecole Pratique des Hautes Etudes, ICM, GHU Pitié-Salpêtrière, Paris; Centre de Référence Malformations et Maladies Congénitales du Cervelet (L.B., D.R., S.C.-B., C.R., A.A.), Paris-Lyon-Lille; INSERM U1141 (L.B., D.R.), Paris; APHP (L.B., S.C.-B.), Armand-Trousseau Hospital, Department of Genetics, Paris, France; Service de Neurologie (M.A.-B.), CHU Bab el Oued, Alger, Algeria; APHP (D.R., A.A.), Armand-Trousseau Hospital, Department of Neuropediatrics, UPMC Univ Paris 06; Hospices Civils de Lyon (C.R.), HFME, Service de Neuropédiatrie, Bron; Centre Hospitalier du Pays d'Aix (M.-A.C.), Service de Pédiatrie, Aix en Provence; APHM (M.M.), Service de neurologie pédiatrique, Hôpital de la Timone, Marseille; Service de Génétique (A.T.), Hôpital Bretonneau, Centre Hospitalier Universitaire, Tours; Centre National de Génotypage (D.B., V.M., J.-F.D.), Institut de Génomique, CEA, Evry; APHP (A.B., D.H., A.D.), Department of Genetics and Cytogenetics, Groupe Hospitalier Pitié-Salpêtrière, Paris; Centre de Référence Déficiences Intellectuelles de causes rares (D.H.), Paris; and Groupe de Recherche Clinique déficiences intellectuelles (D.H.), UPMC Univ Paris 06, France.

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http://dx.doi.org/10.1212/WNL.0000000000001524DOI Listing
April 2015

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Am J Med Genet A 2015 Feb 26;167A(2):428-33. Epub 2014 Nov 26.

Service de Génétique et Embryologie médicales, AP-HP, Hôpital Armand Trousseau, Université Paris VI, Paris, France; Département de génétique, AP-HP, Hôpital Robert Debré, Université Paris VII, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.36857
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http://dx.doi.org/10.1002/ajmg.a.36857DOI Listing
February 2015

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

Hum Mol Genet 2014 Nov 10;23(21):5763-73. Epub 2014 Jun 10.

INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France,

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http://dx.doi.org/10.1093/hmg/ddu290DOI Listing
November 2014

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Eur J Hum Genet 2014 Jan 1;22(1):71-8. Epub 2013 May 1.

1] INSERM, U975 (CRICM), Institut du cerveau et de la moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France [2] CNRS 7225 (CRICM), Hôpital Pitié-Salpêtrière, Paris, France [3] Université Pierre et Marie Curie-Paris-6 (UPMC), UMR_S 975, Paris, France [4] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France [5] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865413PMC
January 2014

Discovery of a large deletion of KAL1 in 2 deaf brothers.

Otol Neurotol 2013 Dec;34(9):1590-4

*Centre de référence des surdités génétiques, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; †Service de Génétique médicale, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; ‡INSERM UMRS1120; §Département de génétique et d'embryologie médicales, INSERM U933, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Paris; ∥Département de génétique clinique, CHU de Nantes; ¶Service d'ORL pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; #Laboratoire de Génétique moléculaire, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris; **Institut de la Vision; ††UPMC, Université Pierre et Marie Curie, Paris 6; and ‡‡Laboratoire de biochimie et biologie moléculaire, Hôpital Trousseau, Assistance Publique Hôpitaux de Paris, Paris, France.

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https://insights.ovid.com/crossref?an=00129492-201312000-000
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http://dx.doi.org/10.1097/MAO.0000000000000228DOI Listing
December 2013

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

Eur J Med Genet 2013 Oct 24;56(10):546-50. Epub 2013 Jul 24.

APHP, Groupe hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France; Université Pierre et Marie Curie, Faculté de Médecine, Paris, France; INSERM UMRS 975, CNRS UMR 725, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.005DOI Listing
October 2013

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

Eur J Med Genet 2012 Nov 15;55(11):635-40. Epub 2012 Jul 15.

Service de Génétique et Embryologie médicales, Hôpital Armand Trousseau, APHP, UPMC, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.07.001DOI Listing
November 2012

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.

Eur J Med Genet 2011 May-Jun;54(3):287-91. Epub 2010 Dec 31.

Service de Génétique et Embryologie médicales, Hôpital Armand Trousseau, APHP, UPMC, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.12.006DOI Listing
September 2011

Y-chromosome AZFc structural architecture and relationship to male fertility.

Fertil Steril 2009 Dec 6;92(6):1924-33. Epub 2008 Nov 6.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2008.08.135DOI Listing
December 2009

[Y chromosome and male infertility: what is a normal Y chromosome?].

J Soc Biol 2008 13;202(2):135-41. Epub 2008 Jun 13.

Reproduction, Fertilité et Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.1051/jbio:2008017DOI Listing
October 2008

Immunolocalization and cell expression of lung resistance-related protein (LRP) in normal and tumoral human respiratory cells.

J Histochem Cytochem 2007 Aug 16;55(8):773-82. Epub 2007 Apr 16.

Service d'Histologie et Biologie Tumorale, Hôpital Tenon, 4 rue de la chine, 75020, Paris, France.

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http://journals.sagepub.com/doi/10.1369/jhc.7A7176.2007
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http://dx.doi.org/10.1369/jhc.7A7176.2007DOI Listing
August 2007

Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection.

Fertil Steril 2006 Sep;86(3):719.e1-7

AP-HP, Hôpital Tenon, Service d'Histologie Biologie de la Reproduction Cytogénétique, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2005.12.078DOI Listing
September 2006

Y chromosome variants and male reproductive function.

Int J Androl 2006 Feb;29(1):298-303; discussion 304-6

Reproduction, Fertility and Populations, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1111/j.1365-2605.2005.00637.xDOI Listing
February 2006

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure.

Fertil Steril 2006 Jan;85(1):229-31

Reproduction, Fertility and Populations, Department of Developmental Biology, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2005.07.1278DOI Listing
January 2006

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Ann Genet 2004 Jul-Sep;47(3):241-9

Service d'Histologie, Biologie de la Reproduction et Cytogénétique (UPMC-EA 1533), Hôpital Tenon (AP-HP), 75020 Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400005
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http://dx.doi.org/10.1016/j.anngen.2004.02.003DOI Listing
October 2004

Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling.

Fetal Diagn Ther 2003 Mar-Apr;18(2):111-3

Service d'Histologie, Biologie de la Reproduction et Cytogénétique, Hôpital Tenon et Laboratoire de Cytologie Histologie, Centre Universitaire des Saints-Pères, Paris, France.

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http://dx.doi.org/10.1159/000068071DOI Listing
September 2003

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

Eur J Hum Genet 2003 Jun;11(6):452-6

Service d'Histologie-Embryologie Cytogénétique Biologie de la Reproduction, Hôpital Jean Verdier (AP-HP), Avenue du 14 Juillet-93143, Bondy Cedex, France.

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http://www.nature.com/articles/5200984
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http://dx.doi.org/10.1038/sj.ejhg.5200984DOI Listing
June 2003