Publications by authors named "Brigitte Benzacken"

46Publications

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

Clin Genet 2020 04 7;97(4):639-643. Epub 2020 Jan 7.

APHP, Département d'Histologie, Embryologie et Cytogénétique, Hôpital Jean Verdier, Bondy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13688DOI Listing
April 2020

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

View Article

Download full-text PDF

Source
http://www.molecularautism.com/content/6/1/19
Publisher Site
http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

Mol Cytogenet 2014 30;7(1):59. Epub 2014 Sep 30.

Génomique, Epigénétique et Physiopathologie de la Reproduction, U1016 INSERM-UMR 8104 CNRS (Institut Cochin), Université Paris Descartes, Faculté de Médecine, Paris, France ; Laboratoire de Cytogénétique- APHP, Hôpitaux Universitaires Paris Centre, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-014-0059-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197286PMC
October 2014

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.

Neurology 2014 Sep 6;83(11):1029-31. Epub 2014 Aug 6.

From CHU Nîmes (D.R., P.L.), Hôpital Caremeau; AP-HP, Service de Génétique Neuro-vasculaire (M.M., E.T.-L.), Hôpital Lariboisière, Paris; UMR-S 1161 Université Paris Diderot (M.M., E.T.-L.), Sorbonne Paris Cité, Génétique des Maladies Vasculaires, Paris; and AP-HP, Hôpital Jean Verdier (E.P., A.D., B.B.), Cytogénétique, Bondy, INSERM, Paris, Université Paris Nord, Sorbonne Paris Cité, Bobigny, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000769DOI Listing
September 2014

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

Am J Med Genet A 2014 Sep 28;164A(9):2335-7. Epub 2014 May 28.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR 1141 "PROTECT", Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36619DOI Listing
September 2014

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

J Clin Endocrinol Metab 2014 Aug 14;99(8):E1592-6. Epub 2014 Apr 14.

Unité d'Hépatologie (D.R.), Groupe Hospitalier Paris-Seine-St Denis, Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris, 93000 Bobigny, France; Service d'Hépato-Gastroentérologie (V.B., M.B.), Service d'Anatomo-Pathologie (M.Z.), and Service d'Histologie-Embryologie et Cytogénétique, Biologie de la Reproduction (B.B.), Groupe Hospitalier Paris-Seine-St Denis, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, 93143 Bondy, France; Université Paris 13, Sorbonne Paris Cité (D.R., M.Z., M.B., B.B.), 93000 Bobigny, France; Département de Génétique (V.M.), Université Paris Descartes, INSERM Unité 781, Hopital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service d'Endocrinologie et Diabétologie de l'Enfant (A.L.), Groupe Hospitalier Paris Sud, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, and Université Paris Sud, INSERM Unité 936, 94270 Le Kremlin-Bicêtre, France.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2014-1037DOI Listing
August 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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Chromosomal microarray analysis in ocular developmental anomalies.

Expert Rev Mol Diagn 2012 Jun;12(5):425-7

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1586/erm.12.41DOI Listing
June 2012

Parental origin of the X-chromosome does not influence growth hormone treatment effect in Turner syndrome.

J Clin Endocrinol Metab 2012 Jul 16;97(7):E1241-8. Epub 2012 May 16.

Univ Paris Diderot, Sorbonne Paris Cité, F-75019, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2011-3488DOI Listing
July 2012

Biological predictive criteria for clinical pregnancy after elective single embryo transfer.

Fertil Steril 2011 Jan;95(1):427-30

Service d'Histologie-Embryologie-Cytogénétique, Laboratoire de Biologie de la Reproduction, Centre Hospitalier Universitaire Jean Verdier, Assistance Publique-Hôpitaux de Paris, Bondy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2010.07.1055DOI Listing
January 2011

Should all embryos from day 1 rescue intracytoplasmic sperm injection be transferred during frozen-thawed cycles?

Fertil Steril 2010 Aug 15;94(3):1157-8. Epub 2010 Jan 15.

Service d'Histologie-Embryologie-Cytogénétique-Biologie de la Reproduction-CECOS, Centre Hospitalier Universitaire Jean Verdier, Assistance Publique-Hôpitaux de Paris, Bondy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2009.12.001DOI Listing
August 2010

Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.

Am J Med Genet A 2009 Dec;149A(12):2892-7

Department of Developmental Biology, AP-HP Robert Debré University Hospital, Paris Diderot University, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33135DOI Listing
December 2009

An auto-controlled prospective comparison of two embryos culture media (G III series versus ISM) for IVF and ICSI treatments.

J Assist Reprod Genet 2009 Nov-Dec;26(11-12):575-81. Epub 2009 Nov 11.

Service d'Histologie-Embryologie-Cytogénétique, Laboratoire de Biologie de la Reproduction, Centre Hospitalier Universitaire Jean Verdier, Assistance Publique-Hôpitaux de Paris, 93143 Bondy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10815-009-9357-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799556PMC
April 2010

A prospective randomized study to compare four different mineral oils used to culture human embryos in IVF/ICSI treatments.

Eur J Obstet Gynecol Reprod Biol 2009 Nov 16;147(1):52-6. Epub 2009 Jul 16.

Laboratoire de Biologie de la Reproduction, Service d'Histologie-Embryologie-Cytogénétique, CHU Jean Verdier, Assistance Publique-Hôpitaux de Paris, Bondy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejogrb.2009.06.023DOI Listing
November 2009

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Am J Med Genet A 2008 Nov;146A(22):2971-4

Service d'Histologie-Embryologie et Cytogenetique, Biologie de la Reproduction, Hopital Jean Verdier, AP-HP, Bondy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32547DOI Listing
November 2008

Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.

J Autism Dev Disord 2007 Sep 28;37(8):1585-91. Epub 2006 Sep 28.

Département de Psychiatrie de l'Enfant et de l'Adolescent, Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HP, 47 bd de l'Hôpital, 75013 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10803-006-0228-5DOI Listing
September 2007

Retrospective diagnosis of Pallister-Killian syndrome by CGH array.

Fetal Diagn Ther 2006 12;21(6):485-8. Epub 2006 Sep 12.

Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, Bondy, AP-HP, UFR-USMBH, Paris XIII, France.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/95658
Publisher Site
http://dx.doi.org/10.1159/000095658DOI Listing
January 2007

MIC 1 concentration as a predictor of first-trimester miscarriage.

Lancet 2004 Apr;363(9416):1238-9; author reply 1239

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(04)15966-7DOI Listing
April 2004

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.

View Article

Download full-text PDF

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

A constitutional translocation t(1;4)(p21;p15) in a case of chronic lymphocytic leukemia.

Ann Genet 2002 Oct-Dec;45(4):169-71

Laboratoire d'Hématologie, Hôpital Jean Verdier, avenue du 14 Juillet, 93145 cedex, Bondy, France. virginie.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0003-3995(02)01134-6DOI Listing
November 2003