Marie-France Portnoi

Marie-France Portnoi

UNVERIFIED PROFILE

Are you Marie-France Portnoi?   Register this Author

Register author
Marie-France Portnoi

Marie-France Portnoi

Publications by authors named "Marie-France Portnoi"

Are you Marie-France Portnoi?   Register this Author

33Publications

824Reads

19Profile Views

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism.

Case Rep Genet 2013 13;2013:592702. Epub 2013 Jan 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2013/592702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557612PMC
February 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.

J Clin Endocrinol Metab 2009 Nov 16;94(11):4540-6. Epub 2009 Oct 16.

Department of Endocrinology, Saint-Antoine Hospital, Centre de Référence des Maladies, Endocriniennes Rares de la Croissance, Assistance Publique-Hôpitaux de Paris, ER9 University Pierre et Marie Curie, 75005 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2009-0186DOI Listing
November 2009

Microduplication 22q11.2: a new chromosomal syndrome.

Eur J Med Genet 2009 Mar-Jun;52(2-3):88-93. Epub 2009 Feb 28.

Service de Génétique et Embryologie médicales, Hôpital Armand-Trousseau, 26 rue du Dr Arnold Netter, AP-HP, 75012 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.02.008DOI Listing
September 2009

Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion.

Arch Otolaryngol Head Neck Surg 2009 Jul;135(7):652-6

Service d'Otorhinolaryngologie et de Chirurgie Cervico-Faciale, Hôpital d'Enfants Armand-Trousseau, APHP and UPMC Univ Paris 6, 26 avenue Arnold Netter, 75571 Paris Cedex 12, France.

View Article

Download full-text PDF

Source
http://archotol.jamanetwork.com/article.aspx?doi=10.1001/arc
Publisher Site
http://dx.doi.org/10.1001/archoto.2009.64DOI Listing
July 2009

Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.

Hum Reprod 2008 Jan 1;23(1):222-6. Epub 2007 Nov 1.

Service de Biologie et Génétique de la Reproduction, Inserm U782, Université Paris 11, Hôpital A Béclère, Clamart, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/humrep/dem358DOI Listing
January 2008

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.

Am J Med Genet A 2007 Dec;143A(23):2796-803

Service de Biochime et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, AP-HP, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31768DOI Listing
December 2007

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Clin Dysmorphol 2007 Oct;16(4):247-52

Cytogenetics Laboratory, AP-HP, Saint-Antoine's Hospital, Pierre and Marie Curie University, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e328235a572DOI Listing
October 2007

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Am J Med Genet A 2007 Oct;143A(20):2417-22

Laboratoire de Cytogénétique, AP-HP, Hôpital Saint-Antoine, Université Pierre et Marie Curie, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31931DOI Listing
October 2007

Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome.

Ann Genet 2004 Apr-Jun;47(2):163-75

Laboratoire d'histologie, faculté de médecine de Sfax, avenue Magida-Boulila, CP 3028 Sfax, Tunisia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.anngen.2003.08.024DOI Listing
October 2005

Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature.

Ann Genet 2003 Jan-Mar;46(1):11-8

Laboratoire d'Histologie Embryologie, Faculté de Médecine de Sfax, Avenue Magida Boulila, CP 3029, Sfax, Tunisia.

View Article

Download full-text PDF

Source
February 2004

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

Am J Med Genet A 2003 Apr;118A(3):229-34

Laboratoire de Cytogénétique, CHU de Rouen, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10164DOI Listing
April 2003