Aziza Lebbar

Aziza Lebbar

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Aziza Lebbar

Aziza Lebbar

Publications by authors named "Aziza Lebbar"

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16Publications

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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

Unusual isochromosome 5p marker chromosome.

Am J Med Genet A 2015 Feb 25;167A(2):455-9. Epub 2014 Nov 25.

Service d'Histologie, Cytologie, Biologie Cellulaire et Cytogénétique, Hôpital de la Mère et de l'Enfant (HME), CHU (Centre Hospitalier Universitaire) Dupuytren, Limoges, France.

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http://dx.doi.org/10.1002/ajmg.a.36843DOI Listing
February 2015

Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

Am J Clin Pathol 2014 Aug;142(2):248-53

From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France; Paris Descartes University, Faculty of Medicine, Paris, France;

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https://academic.oup.com/ajcp/article/142/2/248/1767056
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http://dx.doi.org/10.1309/AJCPBLMPRXKU1JUEDOI Listing
August 2014

Amniocentesis performed for karyotyping after identified ultrasonographic abnormalities: what to expect?

Fetal Diagn Ther 2012 13;31(1):55-62. Epub 2011 Dec 13.

Department of Obstetrics and Gynecology, Hôpital d'Instruction des Armées Begin, Saint-Mandé, France.

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http://dx.doi.org/10.1159/000330373DOI Listing
November 2012

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.

Am J Med Genet A 2012 Aug 29;158A(8):2015-20. Epub 2012 Jun 29.

Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia 23298, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35463
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http://dx.doi.org/10.1002/ajmg.a.35463DOI Listing
August 2012

First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.

Am J Med Genet A 2012 Mar 2;158A(3):617-21. Epub 2012 Feb 2.

Groupe Hospitalier Cochin, Broca, Hôtel Dieu, APHP-Laboratoire de Cytogénétique, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.34416DOI Listing
March 2012

Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.

Eur J Med Genet 2010 May-Jun;53(3):127-32. Epub 2010 Mar 17.

AP-HP, Unité de Cytogénétique, Groupe Hospitalier Cochin - Saint Vincent de Paul and Université Paris-Descartes, Faculté de Médecine, 75014 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.003DOI Listing
October 2010

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.

Am J Med Genet A 2009 Mar;149A(3):437-45

AP-HP, Université Paris-Descartes, Faculté de médecine Unité de Cytogénétique, Groupe Hospitalier Cochin-Saint Vincent de Paul, Paris, France.

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http://genoma.ib.usp.br/sites/default/files/publicacoes/mole
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http://doi.wiley.com/10.1002/ajmg.a.32640
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http://dx.doi.org/10.1002/ajmg.a.32640DOI Listing
March 2009

Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies.

Prenat Diagn 2008 Apr;28(4):313-8

Hopital Cochin-Saint Vincent de Paul, Unité de, Cytogénétique, France.

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http://dx.doi.org/10.1002/pd.1959DOI Listing
April 2008

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Am J Med Genet A 2007 Jun;143A(11):1236-43

AP-HP, Hôpital Cochin, Service Histologie Embryologie Cytogénétique, Université Paris-Descartes, Faculté de Médecine, Unité INSERM U709, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.31744DOI Listing
June 2007

Pure familial 6q21q22.1 duplication in two generations.

Eur J Med Genet 2007 Jan-Feb;50(1):60-5. Epub 2006 Sep 28.

Service de Cytogénétique, Hôpital Cochin, APHP, 123 Bd du Port Royal, 75014 Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120600098
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http://dx.doi.org/10.1016/j.ejmg.2006.09.002DOI Listing
March 2007