Clarisse Baumann

Clarisse Baumann

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Clarisse Baumann

Clarisse Baumann

Publications by authors named "Clarisse Baumann"

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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

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

Juvenile myelomonocytic leukaemia and Noonan syndrome.

J Med Genet 2014 Oct 5;51(10):689-97. Epub 2014 Aug 5.

INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.

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http://jmg.bmj.com/content/early/2014/08/05/jmedgenet-2014-1
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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2014-102611
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http://dx.doi.org/10.1136/jmedgenet-2014-102611DOI Listing
October 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

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Eur J Med Genet 2014 Jan 12;57(1):5-14. Epub 2013 Nov 12.

Department of Medical Genetics, APHP -- Robert Debré University Hospital, and Paris VII Denis Diderot University, Paris, France; INSERM UMR676 "PROTECT", Robert Debré Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.008DOI Listing
January 2014

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2663-5. Epub 2013 Aug 5.

AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36081DOI Listing
October 2013

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Eur J Med Genet 2013 Jun 21;56(6):297-300. Epub 2013 Mar 21.

Department of Developmental Biology, Robert Debré Hospital, AP-HP, 48 Boulevard Sérurier, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.03.003DOI Listing
June 2013

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Eur J Med Genet 2013 Apr 19;56(4):226-8. Epub 2013 Jan 19.

Départment of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.005DOI Listing
April 2013

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

Am J Med Genet A 2012 Oct 7;158A(10):2407-11. Epub 2012 Aug 7.

Department of Genetics, AP-HP-Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35513DOI Listing
October 2012

Aphallia, lung agenesis and multiple defects of blastogenesis.

Fetal Pediatr Pathol 2011 ;30(1):22-6

Department of Medical Genetics, APHP Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.3109/15513815.2010.494698DOI Listing
April 2011

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency.

Am J Med Genet A 2010 Nov;152A(11):2870-4

Department of Clinical Genetics, APHP Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33708DOI Listing
November 2010

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.

Am J Med Genet A 2009 Jul;149A(7):1476-81

Service de Génétique Médicale, ULB, Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32678DOI Listing
July 2009

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome.

J Pediatr Surg 2009 Mar;44(3):587-91

Department of Pediatric Surgery, Robert Debre Hospital and Paris VII University, EA3102, APHP, 75019 Paris, France.

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http://dx.doi.org/10.1016/j.jpedsurg.2008.10.066DOI Listing
March 2009

Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.

Am J Med Genet A 2008 Jul;146A(14):1775-80

Department of Developmental Biology, Robert Debré Hospital, AP-HP, Paris Diderot University, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.32380DOI Listing
July 2008

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.

Pediatrics 2007 Jun 21;119(6):e1325-31. Epub 2007 May 21.

Department of Medical Genetics, AP-HP Robert Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1542/peds.2006-0211DOI Listing
June 2007

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.

Eur J Pediatr 2007 Apr 26;166(4):327-31. Epub 2006 Aug 26.

Pediatric Intensive Care Unit, Service de Réanimation, AP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02, 48, Boulevard Sérurier, 75019, Paris, France.

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http://link.springer.com/10.1007/s00431-006-0239-4
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http://dx.doi.org/10.1007/s00431-006-0239-4DOI Listing
April 2007

High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.

Pediatr Res 2006 Oct 28;60(4):478-84. Epub 2006 Aug 28.

Pediatric Endocrinology and Diabetes Unit, Centre de Référence Maladies Endocriniennes Rares de la Croissance, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris VII University, 75019 Paris, France.

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http://dx.doi.org/10.1203/01.pdr.0000238380.03683.cbDOI Listing
October 2006

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Eur J Hum Genet 2006 Aug 17;14(8):971-4. Epub 2006 May 17.

Department of Child Neurology, AP-HP Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201635DOI Listing
August 2006

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations.

Hum Mol Genet 2006 Aug 26;15(15):2363-75. Epub 2006 Jun 26.

Laboratoire de Biologie du développement, Unité Mixte de Recherche 7622, Centre National de la Recherche Scientifique, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddl161DOI Listing
August 2006

Abnormal abdominal situs: what and how should we look for?

Prenat Diagn 2006 Mar;26(3):282-5

Pediatric Imaging Hôpital Robert Debré, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/pd.1401DOI Listing
March 2006

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

Eur J Med Genet 2005 Oct-Dec;48(4):367-76. Epub 2005 Jun 16.

Clinical Genetic Unit, Genetic Department, Hôpital Robert-Debré, 48, boulevard Sérurier, 75019 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.05.006DOI Listing
February 2006

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

Am J Med Genet A 2005 Aug;137(2):199-203

Clinical Genetic Unit, Hôpital Robert Debré, Boulevard Sérurier, FR-75019 Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.30360DOI Listing
August 2005

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Prenat Diagn 2005 Mar;25(3):193-7

Service de Biologie du Développement, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1002/pd.1102DOI Listing
March 2005

Specific genetic disorders and autism: clinical contribution towards their identification.

J Autism Dev Disord 2005 Feb;35(1):103-16

Service de Psychiatrie de l'Enfant et de l'Adolescent, Groupe Hospitalier Pitié-Salpétrière, Paris.

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http://dx.doi.org/10.1007/s10803-004-1038-2DOI Listing
February 2005

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

Ann Genet 2003 Oct-Dec;46(4):449-52

Clinical Genetic Unit, Genetic Federation, Hôpital Robert Debré, 75019 Paris, France.

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http://dx.doi.org/10.1016/s0003-3995(03)00018-2DOI Listing
June 2004

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation.

Eur J Pediatr 2004 Jun;163(6):323-6

Département de Génétique, Hôpital de la Pitié-Salpêtrière, 47-83 bd de l'hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1007/s00431-004-1428-7DOI Listing
June 2004

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

Eur J Pediatr 2003 Dec 30;162(12):863-7. Epub 2003 Sep 30.

Clinical Genetics Unit, INSERM E9935, Hôpital Robert Debré, 48 boulevard Sérurier, 75019, Paris, France.

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http://dx.doi.org/10.1007/s00431-003-1317-5DOI Listing
December 2003

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

Clin Dysmorphol 2003 Oct;12(4):237-40

Clinical Genetic Unit, Department of Paediatrics, University Hospital, Amiens, France.

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http://dx.doi.org/10.1097/00019605-200310000-00005DOI Listing
October 2003

Severely delayed epiphyseal ossification dysplasia with normal stature.

Am J Med Genet A 2003 Aug;120A(4):553-6

Clinical Genetic Unit, Hôpital Robert Debré, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.20046
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http://dx.doi.org/10.1002/ajmg.a.20046DOI Listing
August 2003

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

Eur J Hum Genet 2003 Jun;11(6):452-6

Service d'Histologie-Embryologie Cytogénétique Biologie de la Reproduction, Hôpital Jean Verdier (AP-HP), Avenue du 14 Juillet-93143, Bondy Cedex, France.

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http://www.nature.com/articles/5200984
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http://dx.doi.org/10.1038/sj.ejhg.5200984DOI Listing
June 2003

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.

Am J Med Genet 2002 Dec;113(4):362-6

Clinical Genetic Unit, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1002/ajmg.b.10738DOI Listing
December 2002

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

Hum Genet 2002 Aug 6;111(2):198-206. Epub 2002 Jul 6.

INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hôpital Henri Mondor, 94010 Créteil Cedex, France.

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http://dx.doi.org/10.1007/s00439-002-0765-8DOI Listing
August 2002