Publications by authors named "Laurent Guibaud"

70Publications

Normal intellectual skills in patients with Rhombencephalosynapsis.

Eur J Paediatr Neurol 2020 Sep 30. Epub 2020 Sep 30.

Department of Pediatric Neurology, Competence Centre for Cerebellar Malformations, Lyon University Hospital, F-69677, Bron, France; University Lyon 1, F-69008, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.09.007DOI Listing
September 2020

[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development].

Med Sci (Paris) 2020 Oct 7;36(10):866-871. Epub 2020 Oct 7.

Service de génétique, Hospices Civils de Lyon, groupement hospitalier Est, France - Inserm U1028, CNRS UMR5292, équipe GENDEV, Centre de recherche en neurosciences de Lyon, 69000 Lyon, France.

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http://dx.doi.org/10.1051/medsci/2020157DOI Listing
October 2020

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

Eur J Med Genet 2020 Nov 14;63(11):104036. Epub 2020 Aug 14.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, CHU Dijon Bourgogne, 21079, Dijon, France; Génétique des Anomalies du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104036DOI Listing
November 2020

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

Eur J Med Genet 2020 Jun 22;63(6):103897. Epub 2020 Feb 22.

Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, France; Claude Bernard Lyon 1 University, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103897DOI Listing
June 2020

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Prenat Diagn 2020 01 5;40(2):276-281. Epub 2019 Dec 5.

Department of Pediatric and Fetal Imaging, Hospital Femme Mère Enfant, Lyon, Bron, France.

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http://dx.doi.org/10.1002/pd.5589DOI Listing
January 2020

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Eur J Med Genet 2019 Oct 15;62(10):103726. Epub 2019 Jul 15.

Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103726DOI Listing
October 2019

Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography.

Prenat Diagn 2019 06 29;39(7):536-543. Epub 2019 May 29.

Hospices Civils de Lyon, Department of Obstetrics and Gynecology, Hôpital Femme Mère Enfant, Université Claude Bernard, Lyon 1, Bron-, Lyon, 69500, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.5465
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http://dx.doi.org/10.1002/pd.5465DOI Listing
June 2019

Prenatal imaging features suggestive of liver gestational allo immune disease.

J Gynecol Obstet Hum Reprod 2019 Jan 19;48(1):61-64. Epub 2018 Nov 19.

Fetal Medicine unit, Université Claude Bernard, Lyon 1, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, 59 boulevard Pinel, 69500, Bron, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.jogoh.2018.11.005DOI Listing
January 2019

How to manage chickenpox during pregnancy: case reports.

Ann Biol Clin (Paris) 2018 Dec;76(6):669-674

Consultation obstétrique, Hospices civils de Lyon, Groupement hospitalier Est, Lyon, France.

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http://dx.doi.org/10.1684/abc.2018.1385DOI Listing
December 2018

The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome.

Eur J Paediatr Neurol 2018 Nov 1;22(6):900-909. Epub 2018 Sep 1.

Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2018.08.006DOI Listing
November 2018

The many faces of prenatal imaging diagnosis of primitive aqueduct obstruction.

Eur J Paediatr Neurol 2018 Nov 10;22(6):910-918. Epub 2018 Aug 10.

Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Lyon, France; Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Lyon, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183011
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http://dx.doi.org/10.1016/j.ejpn.2018.07.015DOI Listing
November 2018

Prenatal imaging of posterior fossa disorders. A review.

Eur J Paediatr Neurol 2018 Nov 2;22(6):972-988. Epub 2018 Aug 2.

Fetal Medicine Unit, Université Claude Bernard Lyon 1, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, 59 Boulevard Pinel, Bron, 69500, Lyon, France; Department of Pediatric and Fetal Imaging, Centre de Compétence des Malformations et Maladies congénitales du cervelet, Université Claude Bernard Lyon 1, Hôpital Femme Mère Enfant, 59 Boulevard Pinel, Bron, 69500, Lyon, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183020
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http://dx.doi.org/10.1016/j.ejpn.2018.07.007DOI Listing
November 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations.

Eur J Pediatr 2018 Sep 8;177(9):1395-1398. Epub 2018 Mar 8.

Department of Pediatric Surgery, University Hospital La Paz, Madrid, Spain.

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http://dx.doi.org/10.1007/s00431-018-3126-xDOI Listing
September 2018

Ultrasound examination of the antrum to predict gastric content volume in the third trimester of pregnancy as assessed by MRI: A prospective cohort study.

Eur J Anaesthesiol 2018 05;35(5):379-389

From the Department of Anaesthesiology and Intensive Care, Hospices Civils de Lyon, Femme Mère Enfant Hospital, Lyon (MR, FPD, DC, LB), Department of Anaesthesiology and Intensive Care, Hôpital Nord, Assistance Publique - Hôpitaux de Marseille, Marseille (LZ, AD, ML), Department of Medical Imaging, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon (LG), Department of Medical Imaging, Hôpital Nord, Assistance Publique - Hôpitaux de Marseille, Marseille (KC) and Inserm, U1032, LabTau, Lyon, France (LB).

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http://Insights.ovid.com/crossref?an=00003643-900000000-9860
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http://dx.doi.org/10.1097/EJA.0000000000000749DOI Listing
May 2018

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

Eur J Paediatr Neurol 2018 Jan 5;22(1):82-92. Epub 2017 Sep 5.

Université de Lyon, F-69008 Lyon, France; Radiologie pédiatrique et médecine fœtale, Hôpital Femme Mère Enfant, F-69677 Bron, France.

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http://dx.doi.org/10.1016/j.ejpn.2017.08.003DOI Listing
January 2018

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Am J Med Genet A 2017 Sep 27;173(9):2522-2527. Epub 2017 Jul 27.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38342DOI Listing
September 2017

Fetal ventriculomegaly: diagnostic, ethical and semantic considerations.

Childs Nerv Syst 2017 11 10;33(11):1863-1864. Epub 2017 Jul 10.

Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Lyon-Bron, France.

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http://dx.doi.org/10.1007/s00381-017-3500-4DOI Listing
November 2017

Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

J Inherit Metab Dis 2017 01 16;40(1):103-112. Epub 2016 Nov 16.

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie, Groupement Hospitalier Est, Lyon Bron, France.

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http://dx.doi.org/10.1007/s10545-016-9992-3DOI Listing
January 2017

Expanding Porencephalic Cysts: Prenatal Imaging and Differential Diagnosis.

Fetal Diagn Ther 2017 14;41(3):226-233. Epub 2016 Jul 14.

Département d'Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Lyon-Bron, France.

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http://dx.doi.org/10.1159/000447740DOI Listing
February 2018

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

J Inherit Metab Dis 2016 09 8;39(5):611-624. Epub 2016 Jul 8.

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est CHU de Lyon, Lyon, France.

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http://dx.doi.org/10.1007/s10545-016-9947-8DOI Listing
September 2016

Kasabach-Merritt phenomenon and prenatal counseling: a case series.

Clin Case Rep 2016 07 10;4(7):692-5. Epub 2016 Jun 10.

Multidisciplinary consultation of Angioma Department of Fetal and Pediatric Imaging Hospices Civils de Lyon Femme Mère Enfant Hospital 97 bd Pinel Bron Lyon 69500 France.

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http://dx.doi.org/10.1002/ccr3.580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929808PMC
July 2016

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

J Inherit Metab Dis 2016 09 22;39(5):597-610. Epub 2016 Apr 22.

Department of Department of Biochemistry, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 bd Pinel, 69677, Bron cedex, France.

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http://dx.doi.org/10.1007/s10545-016-9937-xDOI Listing
September 2016

Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome.

Prenat Diagn 2015 Apr 3;35(4):409-11. Epub 2015 Mar 3.

Service obstétrique, Hôpital Femme Mère Enfants, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/pd.4567DOI Listing
April 2015

[A rapidly progressive orbital tumor in a seven-year-old girl revealing a primitive systemic vasculitis].

Ann Pathol 2014 Dec 15;34(6):469-73. Epub 2014 Nov 15.

Centre de pathologie Est, groupement hospitalier Est, 59, boulevard Pinel, 69500 Bron, France.

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https://linkinghub.elsevier.com/retrieve/pii/S02426498140019
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http://dx.doi.org/10.1016/j.annpat.2014.09.007DOI Listing
December 2014

Prenatal diagnosis of osteopathia striata with cranial sclerosis.

Prenat Diagn 2015 Mar 26;35(3):302-4. Epub 2014 Nov 26.

Laboratoire de Pathologie, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon I, Lyon, France.

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http://doi.wiley.com/10.1002/pd.4513
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http://dx.doi.org/10.1002/pd.4513DOI Listing
March 2015

Dilatation of the supra-pineal recess on prenatal imaging: early clue for obstructive ventriculomegaly downstream of the third ventricle.

Prenat Diagn 2014 Apr 6;34(4):394-401. Epub 2014 Mar 6.

Centre Pluridisciplinaire de Diagnostic Prénatal, Hopital Femme Mère Enfant, Lyon-Bron, France.

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http://doi.wiley.com/10.1002/pd.4323
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http://dx.doi.org/10.1002/pd.4323DOI Listing
April 2014

Pre- and postnatal imaging of early cerebral damage in Sturge-Weber syndrome.

Pediatr Radiol 2013 Nov 23;43(11):1536-9. Epub 2013 Jul 23.

Pediatric and Fetal Imaging, Hôpital Femme Mère Enfant, 59, boulevard Pinel, 69677, Lyon-Bron, France.

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http://dx.doi.org/10.1007/s00247-013-2743-9DOI Listing
November 2013

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

Am J Med Genet A 2012 Dec 19;158A(12):3174-81. Epub 2012 Nov 19.

Centre de référence des anomalies du développement, Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.35588DOI Listing
December 2012

Efficacy of rapamycin for refractory hemangioendotheliomas in Maffucci's syndrome.

J Clin Oncol 2012 Aug 25;30(23):e213-5. Epub 2012 Jun 25.

Institut Hématologie Oncologie Pédiatrique, Lyon, France.

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http://dx.doi.org/10.1200/JCO.2012.41.7287DOI Listing
August 2012

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling.

Prenat Diagn 2012 Feb;32(2):185-93

Département d'Imagerie Pédiatrique et Foetale, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon I, Lyon, France.

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http://dx.doi.org/10.1002/pd.3828DOI Listing
February 2012

The fetal cerebellum: development and common malformations.

J Child Neurol 2011 Dec 27;26(12):1483-92. Epub 2011 Sep 27.

Service de Radiologie, Hôpital d'Enfants Armand-Trousseau, Paris, France.

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http://dx.doi.org/10.1177/0883073811420148DOI Listing
December 2011

Hepatic haemangioma-prenatal imaging findings, complications and perinatal outcome in a case series.

Pediatr Radiol 2012 Mar 18;42(3):298-307. Epub 2011 Sep 18.

Pediatric Radiology, Hopital Bicêtre, 78 Rue du Général Leclerc, Le Kremlin Bicêtre 94275, France.

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http://dx.doi.org/10.1007/s00247-011-2214-0DOI Listing
March 2012

Propranolol as first-line treatment of head and neck hemangiomas.

Arch Otolaryngol Head Neck Surg 2011 May;137(5):471-8

Service d'Otorhinolaryngologie Pédiatrique, L'Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69600 Bron, France.

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http://archotol.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archoto.2011.55DOI Listing
May 2011

Treatment of venous malformations: first experience with a new sclerosing agent--a multicenter study.

Eur J Radiol 2011 Dec 1;80(3):e366-72. Epub 2011 Apr 1.

Department of Neuroradiology, University Hospital Freiburg, Breisacher Str. 64, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1016/j.ejrad.2010.12.074DOI Listing
December 2011

Fetal liver iron overload: the role of MR imaging.

Eur Radiol 2011 Feb 4;21(2):295-300. Epub 2010 Sep 4.

Erasme Hospital, Medical imaging, Brussels, Brabant, Belgium,

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http://dx.doi.org/10.1007/s00330-010-1920-6DOI Listing
February 2011

Fetal gastrointestinal MRI: all that glitters in T1 is not necessarily colon.

Pediatr Radiol 2010 Jul 6;40(7):1215-21. Epub 2010 Jan 6.

Service de Radiopediatrie, La Timone Children's Hospital, 264 rue saint-Pierre, Marseille 13385, France.

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http://dx.doi.org/10.1007/s00247-009-1497-xDOI Listing
July 2010

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

Am J Med Genet A 2009 Nov;149A(11):2584-7

Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.32772DOI Listing
November 2009

Reactivity to visual signals and the cerebellar vermis: Evidence from a rare case with rhombencephalosynapsis.

Behav Neurosci 2009 Feb;123(1):86-96

Université Lumière-Lyon 2, Laboratoire d'Etude des Mécanismes Cognitifs, Département de Psychologie Cognitive Expérimentale & Neuropsychologie, Bron Cedex, France.

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http://doi.apa.org/getdoi.cfm?doi=10.1037/a0013726
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http://dx.doi.org/10.1037/a0013726DOI Listing
February 2009

Contribution of fetal cerebral MRI for diagnosis of structural anomalies.

Authors:
Laurent Guibaud

Prenat Diagn 2009 Apr;29(4):420-33

Imagerie Pédiatrique et Foetale, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon I, 59, Boulevard Pinel, 69677 Lyon-Bron, France.

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http://dx.doi.org/10.1002/pd.2171DOI Listing
April 2009

Prenatal diagnosis of umbilicoportosystemic shunts: report of 11 cases and review of the literature.

AJR Am J Roentgenol 2005 Jan;184(1):163-8

Department of Pediatric and Fetal Imaging, Hôpital Debrousse, 29 Rue Soeur Bouvier, Cedex 05, Lyon 69322, France.

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http://dx.doi.org/10.2214/ajr.184.1.01840163DOI Listing
January 2005

Practical approach to prenatal posterior fossa abnormalities using MRI.

Authors:
Laurent Guibaud

Pediatr Radiol 2004 Sep 4;34(9):700-11. Epub 2004 Aug 4.

Department of Paediatric and Fetal Imaging, Hôpital Debrousse, 29 Soeur Bouvier, Lyon, Cedex 05, France.

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http://link.springer.com/content/pdf/10.1007/s00247-004-1248
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http://link.springer.com/10.1007/s00247-004-1248-y
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http://dx.doi.org/10.1007/s00247-004-1248-yDOI Listing
September 2004

Three-dimensional MR imaging in the assessment of physeal growth arrest.

Eur Radiol 2004 Sep 3;14(9):1600-8. Epub 2004 Apr 3.

Department of Orthopaedics, Hôpital Bebrousse, 29 rue Soeur Bouvier, 69005 Lyon, France.

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http://dx.doi.org/10.1007/s00330-004-2319-zDOI Listing
September 2004

MR imaging of fetal sacrococcygeal teratoma: diagnosis and assessment.

AJR Am J Roentgenol 2002 Jan;178(1):179-83

Department of Pediatric Imaging, University Children Hospital Queen Fabiola, 15 Ave. J J Crocq, 1020 Brussels, Belgium.

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http://dx.doi.org/10.2214/ajr.178.1.1780179DOI Listing
January 2002