Nicole Philip

Nicole Philip

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Nicole Philip

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Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

Am J Med Genet A 2019 Dec 11;179(12):2365-2373. Epub 2019 Sep 11.

Hôpital de la Timone, Medical Genetics, Marseille, Provence-Alpes-Côte d'Azur, France.

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http://dx.doi.org/10.1002/ajmg.a.61359DOI Listing
December 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.

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

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

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.

J Med Case Rep 2018 Mar 18;12(1):79. Epub 2018 Mar 18.

Department of Child Psychiatry, Aix-Marseille University, APHM, Sainte Marguerite Hospital, Marseille, France.

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http://dx.doi.org/10.1186/s13256-018-1620-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857311PMC
March 2018

Treatment of Comorbid Bipolar Disorder Improves Disabilities and Neuropsychological Functioning in DiGeorge Syndrome: A Case Report.

J Clin Psychopharmacol 2017 12;37(6):736-738

McGill Group for Suicide Studies Douglas Mental Health University Institute Department of Psychiatry McGill University, Montréal, Québec Canada Department of Psychiatry Sainte Marguerite Hospital Assistance Publique Hôpitaux de Marseille Marseille, France Department of Psychiatry Sainte Marguerite Hospital Assistance Publique Hôpitaux de Marseille Marseille, France and Fondation FondaMental Créteil, France Aix-Marseille University CNRS, CRN2M UMR 7286 Marseille, France and Fondation FondaMental Créteil, France Department of Medical Genetics Assistance Publique-Hôpitaux de Marseille and Aix Marseille Université INSERM GMGF UMR_S 910 Marseille, France Department of Psychiatry Sainte Marguerite Hospital Assistance Publique Hôpitaux de Marseille Marseille, France and Fondation FondaMental Créteil, France McGill Group for Suicide Studies Douglas Mental Health University Institute Department of Psychiatry McGill University, Montréal Québec, Canada Department of Psychiatry Sainte Marguerite Hospital Assistance Publique Hôpitaux de Marseille Marseille, France Aix-Marseille University CNRS, CRN2M UMR 7286 Marseille, France and Fondation FondaMental Créteil, France

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http://dx.doi.org/10.1097/JCP.0000000000000783DOI Listing
December 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.

From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1176/appi.ajp.2017.16121417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665703PMC
November 2017

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Am J Med Genet A 2017 Nov 21;173(11):3114-3117. Epub 2017 Sep 21.

Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Etienne, France.

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http://dx.doi.org/10.1002/ajmg.a.38475DOI Listing
November 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

Am J Med Genet A 2017 Sep 28;173(9):2489-2493. Epub 2017 Jun 28.

Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.38331DOI Listing
September 2017

Antenatal prognostic factor of fetal echogenic bowel.

Eur J Obstet Gynecol Reprod Biol 2017 May 3;212:166-170. Epub 2017 Mar 3.

Department of Gynecology and Obstetrics, Pole femme enfant, Marseille, Hôpital Nord, Assistance Publique-Hôpitaux de Marseille, AMU, Aix-Marseille Université and A*MIDEX «CREER» (n° ANR-11-IDEX-0001-02), France; Aix-Marseille Université, Unité de Recherche sur les Maladies Infectieuses Tropicales et Emergentes, UM63, CNRS 7278, IRD 198, INSERM 1095, Marseille, France; Center for Prenatal Diagnosis, Timone Children's Hospital, Assistance Publique Hopitaux de Marseille, Aix-Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France.

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http://dx.doi.org/10.1016/j.ejogrb.2017.01.060DOI Listing
May 2017

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.

Clin Dysmorphol 2017 Jan;26(1):47-49

Departments of aClinical Genetics bPediatric Neurology cRadiology dCytogenetics, APHM, CHU Timone-Enfants, Marseille, France.

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http://dx.doi.org/10.1097/MCD.0000000000000139DOI Listing
January 2017

Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

Eur J Med Genet 2016 Oct 7;59(10):546-8. Epub 2016 Sep 7.

Unité de cytogénétique constitutionnelle, APHM, CHU Timone-Enfants, France.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.001DOI Listing
October 2016

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

Prenat Diagn 2016 Jun 12;36(6):561-7. Epub 2016 May 12.

Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.

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http://dx.doi.org/10.1002/pd.4825DOI Listing
June 2016

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.

Int J Cardiol 2016 Apr 16;209:317-8. Epub 2016 Feb 16.

Department of Medical Genetics, La Timone Hospital, Aix Marseille Université, INSERM, GMGF UMR S 910, 13385 Marseille, France.

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http://dx.doi.org/10.1016/j.ijcard.2016.02.113DOI Listing
April 2016

Prenatal findings in cardio-facio-cutaneous syndrome.

Am J Med Genet A 2016 Feb 22;170A(2):441-445. Epub 2015 Oct 22.

Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37420DOI Listing
February 2016

22q11.2 deletion syndrome.

Nat Rev Dis Primers 2015 11 19;1:15071. Epub 2015 Nov 19.

The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, and Clinical Genetics Research Program, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada.

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http://www.nature.com/articles/nrdp201571
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http://dx.doi.org/10.1038/nrdp.2015.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471PMC
November 2015

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Am J Med Genet A 2015 Oct 10;167A(10):2314-8. Epub 2015 May 10.

Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37152DOI Listing
October 2015

Putative criteria for predicting spontaneous regression of prenatally diagnosed thoracoabdominal cystic lesions.

Eur J Pediatr Surg 2014 Oct 5;24(5):426-9. Epub 2013 Sep 5.

Department of Pediatric Surgery, Hôpital Timone, Marseille, France.

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http://dx.doi.org/10.1055/s-0033-1353492DOI Listing
October 2014

Whole ARX gene duplication is compatible with normal intellectual development.

Am J Med Genet A 2014 Sep 7;164A(9):2324-7. Epub 2014 Jul 7.

APHM, Hôpital Timone-Enfants, Département de Génétique Médicale, Marseille, France; Aix-Marseille Université, Inserm, GMGF UMR_S 910, Marseille, France.

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http://doi.wiley.com/10.1002/ajmg.a.36564
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36564DOI Listing
September 2014

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

J Clin Endocrinol Metab 2014 Apr 28;99(4):1180-8. Epub 2014 Jan 28.

Laboratoire d'Endocrinologie Moléculaire et Maladies Rares (V.T.-G., R.M., Y.M.), Centre de Biologie et de Pathologie Est, Hospices civils de Lyon, 69677 Bron, France; Département de Génétique (J.-M.C), Laboratoire Cerba, 95066 Cergy Pontoise, France; Département d'Endocrinologie, Diabétologie, et Métabolismes Pédiatriques (M.D.), Hôpital Mère-Enfant, HCL, 69677 Bron, France; Unité d'Endocrinologie pédiatrique (C.B.-M.), Centre Hospitalier de Bicêtre, 94275 Le Kremlin-Bicêtre, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Unité de Génétique Clinique (C.B.), Hôpital Robert Debré, AP-HP, 75019 Paris, France; Laboratoire d'Explorations Fonctionnelles (M.H.), Hôpital Trousseau, AP-HP, 75012 Paris, France; Unité d'Endocrinologie et Gynécologie Obstétrique (F.L.), Pôle Femme-Mère-Couple, Hôpital Paule de Viguier, 31059 Toulouse, France; Département de Génétique (N.P.), Hôpital Timone, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille, France; Département de Génétique (S.O.), Hôpital Sud, 35203 Rennes, France; and Département de Génétique (A.G.), Centre Hospitalier UniversitaireAngers, 49033 Angers, France.

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http://dx.doi.org/10.1210/jc.2013-2895DOI Listing
April 2014

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Eur J Med Genet 2013 May 27;56(5):274-7. Epub 2013 Feb 27.

Laboratoire de Génétique Chromosomique, Département de Génétique Médicale, Hôpital Timone - Enfants, Assistance Publique - Hôpitaux de Marseille, Marseille, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.02.005DOI Listing
May 2013

Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.

Gene 2013 Jan 2;512(2):194-7. Epub 2012 Nov 2.

Unité de génétique clinique, APHM, CHU Timone-Enfants, France.

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http://dx.doi.org/10.1016/j.gene.2012.09.134DOI Listing
January 2013

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

Am J Med Genet A 2011 Jul 27;155A(7):1706-11. Epub 2011 May 27.

Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Groupement Hospitalier Est, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.34004DOI Listing
July 2011

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

Eur J Med Genet 2010 Nov-Dec;53(6):367-70. Epub 2010 Jul 24.

Department of Obstetrics and Gynaecology, Hospital Nord, Marseilles France, AP-HM, CNRS-IRD UMR 6236, Université de la Méditerranée, Marseille, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.07.008DOI Listing
June 2011

Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.

Behav Genet 2011 May 15;41(3):403-12. Epub 2011 May 15.

Multidisciplinary Center for Prenatal Diagnosis, La Timone Children's Hospital, AP-HM, Marseilles, France.

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http://dx.doi.org/10.1007/s10519-011-9468-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139630PMC
May 2011

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Eur J Hum Genet 2010 Sep 3;18(9). Epub 2010 Feb 3.

Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.

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http://dx.doi.org/10.1038/ejhg.2010.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987430PMC
September 2010

Hypokalaemia and dysmorphia, is there a link?

NDT Plus 2009 Jun 4;2(3):222-4. Epub 2009 Feb 4.

Centre de Néphrologie et Transplantation Rénale, AP-HM , Université de la Méditerranée , Marseille.

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https://academic.oup.com/ckj/article-lookup/doi/10.1093/ndtp
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http://dx.doi.org/10.1093/ndtplus/sfp009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421201PMC
June 2009

The Case: Hypocalcemia, chronic renal failure and dysmorphism.

Kidney Int 2008 Dec;74(11):1495-6

Centre de néphrologie et transplantation rénale, Hopital de la conception, AP-HM, Université de la Méditerranée, Marseille, France.

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http://dx.doi.org/10.1038/ki.2008.430DOI Listing
December 2008

Behavioral and temperamental features of children with Costello syndrome.

Am J Med Genet A 2006 May;140(9):968-74

Child Psychiatry Department, Centre Hospitalier Charles-Perrens, Bordeaux2 University, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.31169DOI Listing
May 2006

Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

Am J Perinatol 2006 Apr 29;23(3):197-200. Epub 2006 Mar 29.

Faculté de Médecine, Université de la Méditerranée, Assistance Publique Hôpitaux de Marseille-Hôpital de La Conception, Département de Néonatologie, 147 boulevard Baille, 13-385 Marseille cedex 05, France.

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http://dx.doi.org/10.1055/s-2006-934099DOI Listing
April 2006

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

Am J Med Genet A 2005 Nov;138(4):314-7

Department of Paediatric Neurology, Hôpital d'Enfants de la Timone, Marseille, France.

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http://doi.wiley.com/10.1002/ajmg.a.30882
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http://dx.doi.org/10.1002/ajmg.a.30882DOI Listing
November 2005

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Ann Genet 2004 Jul-Sep;47(3):235-40

Laboratoire de Genetique Moleculaire, Departement de Genetique Medicale, Hôpital d'Enfants de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400041
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http://dx.doi.org/10.1016/j.anngen.2004.04.002DOI Listing
October 2004

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Am J Hum Genet 2004 Apr 11;74(4):761-4. Epub 2004 Mar 11.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, and Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970761902
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http://dx.doi.org/10.1086/383253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181953PMC
April 2004

Screening for genetic disorders.

Authors:
Nicole Philip

Childs Nerv Syst 2003 Aug 14;19(7-8):436-9. Epub 2003 Jun 14.

Département de Génétique Médicale, Hôpital d'Enfants de la Timone, 13385 Marseille Cedex 5, France.

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http://link.springer.com/10.1007/s00381-003-0779-0
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http://dx.doi.org/10.1007/s00381-003-0779-0DOI Listing
August 2003

MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.

Am J Med Genet A 2003 Aug;121A(2):109-12

Département de Génétique Médicale, Hôpital D'enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.20186DOI Listing
August 2003

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.

Hum Mutat 2003 Feb;21(2):151-7

Instabilité et Altérations des Génomes, UMR6549 CNRS/UNSA, Faculté de Médecine de l'Université de Nice-Sophia Antipolis, Nice, France.

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http://dx.doi.org/10.1002/humu.10165DOI Listing
February 2003

Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas.

Fetal Diagn Ther 2002 Jul-Aug;17(4):236-9

Centre de diagnostic prénatal, Département de Génétique médicale, Hôpital d'Enfants de la Timone, Assistance publique des Hôpitaux de Marseille, F-13385 Marseille Cedex 5, France.

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http://dx.doi.org/10.1159/000059376DOI Listing
January 2003

Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.

Prenat Diagn 2002 Jul;22(7):567-8

Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.

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Source
http://doi.wiley.com/10.1002/pd.369
Publisher Site
http://dx.doi.org/10.1002/pd.369DOI Listing
July 2002