Florence Petit

Florence Petit

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Florence Petit

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Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease.

Ophthalmic Genet 2019 Oct 19:1-4. Epub 2019 Oct 19.

Exploration de la Vision et Neuro-Ophtalmologie, CHU Lille , Lille , France.

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http://dx.doi.org/10.1080/13816810.2019.1681009DOI Listing
October 2019

Identification of a pituitary ERα-activated enhancer triggering the expression of Nr5a1, the earliest gonadotrope lineage-specific transcription factor.

Epigenetics Chromatin 2019 Aug 7;12(1):48. Epub 2019 Aug 7.

Sorbonne Paris Cité, Université Paris-Diderot, CNRS UMR 8251, INSERM U1133, Biologie Fonctionnelle et Adaptative, Physiologie de l'axe gonadotrope, Paris, France.

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http://dx.doi.org/10.1186/s13072-019-0291-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685283PMC
August 2019

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

Am J Med Genet A 2019 Jul 3;179(7):1351-1356. Epub 2019 May 3.

Clinique de Génétique Guy Fontaine, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.

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http://dx.doi.org/10.1002/ajmg.a.61177DOI Listing
July 2019

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Authors:
Karim Wahbi Rabah Ben Yaou Estelle Gandjbakhch Frédéric Anselme Thomas Gossios Neal K Lakdawala Caroline Stalens Frédéric Sacher Dominique Babuty Jean-Noel Trochu Ghassan Moubarak Kostantinos Savvatis Raphaël Porcher Pascal Laforêt Abdallah Fayssoil Eloi Marijon Tanya Stojkovic Anthony Béhin Sarah Leonard-Louis Guilhem Sole Fabien Labombarda Pascale Richard Corinne Metay Susana Quijano-Roy Ivana Dabaj Didier Klug Marie-Christine Vantyghem Philippe Chevalier Pierre Ambrosi Emmanuelle Salort Nicolas Sadoul Xavier Waintraub Khadija Chikhaoui Philippe Mabo Nicolas Combes Philippe Maury Jean-Marc Sellal Usha B Tedrow Jonathan M Kalman Jitendra Vohra Alexander F A Androulakis Katja Zeppenfeld Tina Thompson Christine Barnerias Henri-Marc Bécane Eric Bieth Franck Boccara Damien Bonnet Françoise Bouhour Stéphane Boulé Anne-Claire Brehin Françoise Chapon Pascal Cintas Jean-Marie Cuisset Jean-Marc Davy Annachiara De Sandre-Giovannoli Florence Demurger Isabelle Desguerre Klaus Dieterich Julien Durigneux Andoni Echaniz-Laguna Romain Eschalier Ana Ferreiro Xavier Ferrer Christine Francannet Mélanie Fradin Bénédicte Gaborit Arnaud Gay Albert Hagège Arnaud Isapof Isabelle Jeru Raul Juntas Morales Emmanuelle Lagrue Nicolas Lamblin Olivier Lascols Vincent Laugel Arnaud Lazarus France Leturcq Nicolas Levy Armelle Magot Véronique Manel Raphaël Martins Michèle Mayer Sandra Mercier Christophe Meune Maud Michaud Marie-Christine Minot-Myhié Antoine Muchir Aleksandra Nadaj-Pakleza Yann Péréon Philippe Petiot Florence Petit Julien Praline Anne Rollin Pascal Sabouraud Catherine Sarret Stéphane Schaeffer Frederic Taithe Céline Tard Vincent Tiffreau Annick Toutain Camille Vatier Ulrike Walther-Louvier Bruno Eymard Philippe Charron Corinne Vigouroux Gisèle Bonne Saurabh Kumar Perry Elliott Denis Duboc

Circulation 2019 Jul 3;140(4):293-302. Epub 2019 Jun 3.

APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410DOI Listing
July 2019

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Genet Med 2019 Jul 5. Epub 2019 Jul 5.

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/s41436-019-0599-6DOI Listing
July 2019

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.

J Exp Med 2019 May 1;216(5):1199-1213. Epub 2019 Apr 1.

Immunity and Cancer Department, Institut Curie, Paris-Sciences-et-Lettres Research University, Institut National de la Santé et de la Recherche Medicale U932, Paris, France

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http://dx.doi.org/10.1084/jem.20181329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504208PMC
May 2019

[Ovarian estradiol production during mini-puberty: importance of the cross-talk between FSH and AMH].

Med Sci (Paris) 2019 Mar 1;35(3):201-203. Epub 2019 Apr 1.

Sorbonne Paris Cité, Université Paris-Diderot, CNRS, Inserm, Biologie fonctionnelle et adaptative UMR 8251, Physiologie de l'axe gonadotrope U1133, 4, rue M.A. Lagroua Weill-Hallé, 75013 Paris, France.

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http://dx.doi.org/10.1051/medsci/2019042DOI Listing
March 2019

FSH inhibits AMH to support ovarian estradiol synthesis in infantile mice.

J Endocrinol 2019 02;240(2):215-228

Sorbonne Paris Cité, Université Paris-Diderot, CNRS, INSERM, Biologie Fonctionnelle et Adaptative UMR 8251, Physiologie de l'Axe Gonadotrope U1133, Paris, France.

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https://joe.bioscientifica.com/view/journals/joe/aop/joe-18-
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http://dx.doi.org/10.1530/JOE-18-0313DOI Listing
February 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

GnRH regulates the expression of its receptor accessory protein SET in pituitary gonadotropes.

PLoS One 2018 27;13(7):e0201494. Epub 2018 Jul 27.

Sorbonne Paris Cité, Université Paris-Diderot, CNRS UMR 8251, INSERM U1133, Biologie Fonctionnelle et Adaptative, Physiologie de l'axe gonadotrope, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201494PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063425PMC
January 2019

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.

J Genet Couns 2017 Jun 28;26(3):612-619. Epub 2016 Oct 28.

Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000, Lille, France.

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http://dx.doi.org/10.1007/s10897-016-0033-zDOI Listing
June 2017

Limb development: a paradigm of gene regulation.

Nat Rev Genet 2017 04 6;18(4):245-258. Epub 2017 Feb 6.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, California 94158, USA.

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http://dx.doi.org/10.1038/nrg.2016.167DOI Listing
April 2017

A novel action of follicle-stimulating hormone in the ovary promotes estradiol production without inducing excessive follicular growth before puberty.

Sci Rep 2017 04 11;7:46222. Epub 2017 Apr 11.

Sorbonne Paris Cité, Université Paris-Diderot, CNRS, INSERM, Biologie Fonctionnelle et Adaptative UMR 8251, Physiologie de l'Axe Gonadotrope U1133, Paris, France.

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http://dx.doi.org/10.1038/srep46222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387682PMC
April 2017

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

Eur J Med Genet 2016 Oct 12;59(10):502-6. Epub 2016 Sep 12.

Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.09.008DOI Listing
October 2016

Sub-Saharan red cell antigen phenotypes and glucose-6-phosphate dehydrogenase deficiency variants in French Guiana.

Malar J 2016 06 7;15:310. Epub 2016 Jun 7.

CNRS, EFS, ADES UMR 7268, Aix Marseille Université, 13916, Marseille, France.

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http://dx.doi.org/10.1186/s12936-016-1365-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897928PMC
June 2016

A new case of bent bone dysplasia--FGFR2 type and review of the literature.

Am J Med Genet A 2016 Mar 17;170(3):785-9. Epub 2015 Nov 17.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, France.

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http://dx.doi.org/10.1002/ajmg.a.37473DOI Listing
March 2016

17β-estradiol inhibits spreading of metastatic cells from granulosa cell tumors through a non-genomic mechanism involving GPER1.

Carcinogenesis 2015 May 30;36(5):564-73. Epub 2015 Mar 30.

INSERM U1133, Physiologie de l'Axe Gonadotrope, F-75013 Paris, France, Université Paris Diderot, Sorbonne Paris Cité, Biologie Fonctionnelle et Adaptative, F-75013 Paris, France, CNRS UMR 8251, Biologie Fonctionnelle et Adaptative, F-75013 Paris, France,

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http://carcin.oxfordjournals.org/content/36/5/564.full.pdf
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http://www.carcin.oxfordjournals.org/cgi/doi/10.1093/carcin/
Publisher Site
http://dx.doi.org/10.1093/carcin/bgv041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4417342PMC
May 2015

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Hum Mutat 2015 Feb 11;36(2):187-90. Epub 2014 Dec 11.

Department of Genetics, INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/humu.22729DOI Listing
February 2015

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

Eur J Med Genet 2015 Jan 20;58(1):44-6. Epub 2014 Nov 20.

Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.11.004DOI Listing
January 2015

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

Am J Med Genet A 2014 Jul 26;164A(7):1850-3. Epub 2014 Mar 26.

INSERM U1163, Hôpital Necker-Enfants Malades and Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36505DOI Listing
July 2014

Subtle adjustments of the glucose-6-phosphate dehydrogenase (G6PD) mutation database and reference sequence.

Blood Cells Mol Dis 2014 Jan 19;52(1):55-6. Epub 2013 Aug 19.

Aix Marseille Université, CNRS, EFS-AM, ADES UMR7268, 13344 Marseille, France.

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http://dx.doi.org/10.1016/j.bcmd.2013.07.001DOI Listing
January 2014

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system.

Am J Med Genet A 2014 Jan 21;164A(1):208-12. Epub 2013 Nov 21.

Université Lille Nord de France, CHRU Lille, France; Service de Gynécologie-Obstétrique, Hôpital Jeanne de Flandre, CHRU Lille, France.

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http://doi.wiley.com/10.1002/ajmg.a.36216
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36216DOI Listing
January 2014

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

Eur J Med Genet 2011 Sep-Oct;54(5):e525-7. Epub 2011 Jul 14.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.011DOI Listing
December 2011

Crane-Heise syndrome: two further case reports.

Eur J Med Genet 2011 Mar-Apr;54(2):169-72. Epub 2010 Nov 20.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, 59037 Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.004DOI Listing
August 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage.

Fertil Steril 2010 Apr 13;93(6):2075.e3-6. Epub 2010 Jan 13.

Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.

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http://dx.doi.org/10.1016/j.fertnstert.2009.11.016DOI Listing
April 2010

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

Eur J Med Genet 2008 Jul-Aug;51(4):373-81. Epub 2008 Mar 28.

Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, 2 Avenue Oscar Lambret, CHRU, Lille 59000, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.02.010DOI Listing
October 2008