Genevieve Baujat

Genevieve Baujat

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Genevieve Baujat

Genevieve Baujat

Publications by authors named "Genevieve Baujat"

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Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clin Genet 2019 Oct 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13591
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http://dx.doi.org/10.1111/cge.13591DOI Listing
October 2019

Evaluation of nasal obstruction in children by acoustic rhinometry: A prospective study.

Int J Pediatr Otorhinolaryngol 2019 Sep 2;127:109665. Epub 2019 Sep 2.

Oto-rhino-laryngologie et chirurgie cervico-faciale Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France; Inserm U955 eq 13, Créteil, France; Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.ijporl.2019.109665DOI Listing
September 2019

Craniosynostosis and metabolic bone disorder. A review.

Neurochirurgie 2019 Sep 25. Epub 2019 Sep 25.

AP-HP, Endocrinologie et Diabète de l'Enfant, Centre de Référence des Maladies Rares du Calcium et du Phosphate, filière OSCAR et Plateforme d'Expertise Paris Sud Maladies Rares, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France; AP-HP, Service de Radiologie Pédiatrique Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, France; INSERM U1185. Université Paris Sud Paris Saclay, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1016/j.neuchi.2019.09.008DOI Listing
September 2019

Sleep-disordered breathing in children with mucolipidosis.

Am J Med Genet A 2019 Jul 30;179(7):1196-1204. Epub 2019 Apr 30.

AP-HP, Hôpital Necker Enfants-Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61167DOI Listing
July 2019

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

Eur J Med Genet 2019 Jul 15:103729. Epub 2019 Jul 15.

Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103729DOI Listing
July 2019

Hyperphosphatemic Familial Tumoral Calcinosis With Mutation: Transient Response to Anti-Interleukin-1 Treatments.

JBMR Plus 2019 Jul 6;3(7):e10185. Epub 2019 Mar 6.

Rheumatology Department Cochin Hospital Assistance Publique - Hôpitaux de Paris Paris France.

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http://dx.doi.org/10.1002/jbm4.10185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659445PMC
July 2019

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.

Orphanet J Rare Dis 2019 05 3;14(1):98. Epub 2019 May 3.

Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s13023-019-1068-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499994PMC
May 2019

Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.

Orphanet J Rare Dis 2019 May 23;14(1):113. Epub 2019 May 23.

Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s13023-019-1096-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6532205PMC
May 2019

A retrospective study on sleep-disordered breathing in Morquio-A syndrome.

Am J Med Genet A 2018 12 18;176(12):2595-2603. Epub 2018 Nov 18.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40642
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http://dx.doi.org/10.1002/ajmg.a.40642DOI Listing
December 2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1038/s41431-018-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974246PMC
June 2018

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

Otol Neurotol 2017 09;38(8):1081-1084

*APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Service de Génétique Médicale †APHP, Hôpital Necker Enfants Malades, Service d'otorhinolaryngologie ‡APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Laboratoire de Génétique moléculaire §APHP, Hôpital Robert Debré ||APHP, Hôpital Necker-Enfants malades, Département de Génétique, Paris, France.

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http://dx.doi.org/10.1097/MAO.0000000000001509DOI Listing
September 2017

International physician survey on management of FOP: a modified Delphi study.

Orphanet J Rare Dis 2017 06 12;12(1):110. Epub 2017 Jun 12.

Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, The Perelman School of Medicine, The University of Pennsylvania, 3737 Market Street, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s13023-017-0659-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468985PMC
June 2017

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.

Orphanet J Rare Dis 2017 06 30;12(1):123. Epub 2017 Jun 30.

Institut Imagine, Centre de Référence Maladies Osseuses Constitutionnelles, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0674-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493013PMC
June 2017

Sleep-disordered breathing and its management in children with achondroplasia.

Am J Med Genet A 2017 Apr 27;173(4):868-878. Epub 2017 Feb 27.

AP-HP, Hôpital Necker-Enfants malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.38130
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http://dx.doi.org/10.1002/ajmg.a.38130DOI Listing
April 2017

Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.

Pediatr Blood Cancer 2017 02 8;64(2):306-310. Epub 2016 Oct 8.

Department of Pediatric Immunology, Hematology and Rheumatology, Hôpital Necker, APHP, Paris, France.

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http://dx.doi.org/10.1002/pbc.26195DOI Listing
February 2017

Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia.

Orphanet J Rare Dis 2016 12 5;11(1):166. Epub 2016 Dec 5.

Department of Obstetrics and Gynecology and Reproductive Medicine, AP-HP, Antoine Béclère Hospital, Univ Paris-Sud Clamart, Clamart, 92140, France.

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http://dx.doi.org/10.1186/s13023-016-0529-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5139109PMC
December 2016

Central sleep apnea in children: experience at a single center.

Sleep Med 2016 09 31;25:24-28. Epub 2016 Aug 31.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker Enfants-Malades, Paris, France; Paris Descartes University, Paris, France; Inserm U955, Team 13, Créteil Université, Paris XII, Créteil, France.

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http://dx.doi.org/10.1016/j.sleep.2016.07.016DOI Listing
September 2016

Craniovertebral junction anomalies in achondroplastic children.

Adv Tech Stand Neurosurg 2014 ;40:295-312

Pediatric Neurosurgical Departement, Hôpital Necker-Enfants Malades, APHP, 149, Rue de Sèvres, Paris, 75743, France.

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http://dx.doi.org/10.1007/978-3-319-01065-6_10DOI Listing
April 2016

Clinical and neuroradiological features of the 9p deletion syndrome.

Childs Nerv Syst 2016 Feb 23;32(2):327-35. Epub 2015 Nov 23.

Department of Pediatric Neurosurgery, Craniofacial Unit, Necker Enfants Malades Hospital, 156 rue de Vaugirard, 75015, Paris, France.

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http://dx.doi.org/10.1007/s00381-015-2957-2DOI Listing
February 2016

[When to think of a constructional bone disease?].

Rev Prat 2016 Feb;66(2):198-200

Université Paris- Descartes - Sorbonne Paris Cité ; service d'orthopédie pédiatrique, hôpital Necker-Enfants malades, Paris, France.

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February 2016

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

Am J Med Genet A 2016 Jan 11;170A(1):263-5. Epub 2015 Sep 11.

Laboratoire de génétique des maladies rares et auto-inflammatoires, CHRU, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.37374DOI Listing
January 2016

Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort.

Horm Res Paediatr 2014 15;82(6):355-63. Epub 2014 Oct 15.

Pediatric Endocrinology, Gynecology and Diabetes, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000364807DOI Listing
October 2015

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

Eur J Hum Genet 2014 Dec 16;22(12):1413-6. Epub 2014 Apr 16.

Unité Fonctionnelle de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Pôle B2P, Hôpital Lariboisière, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231413PMC
December 2014

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Am J Med Genet A 2014 Mar 19;164A(3):769-73. Epub 2013 Dec 19.

Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.36331DOI Listing
March 2014

The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.

Am J Med Genet A 2013 Dec 16;161A(12):3023-9. Epub 2013 Aug 16.

Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36151DOI Listing
December 2013

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Am J Hum Genet 2013 Nov 31;93(5):926-31. Epub 2013 Oct 31.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824112PMC
November 2013

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

Germline mutations in FGF receptors and medulloblastomas.

Am J Med Genet A 2013 Feb 16;161A(2):382-5. Epub 2013 Jan 16.

INSERMU830, Laboratoire de génétique et biologie des cancers, Institut Curie, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35719DOI Listing
February 2013

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

Eur J Med Genet 2012 Feb 27;55(2):103-8. Epub 2011 Nov 27.

Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.ejmg.2011.11.003DOI Listing
February 2012

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Am J Med Genet A 2011 May 11;155A(5):1178-83. Epub 2011 Apr 11.

Department of Medical Genetics, Université Paris Descartes, INSERM U, Hôpital Necker-Enfants Malades, France.

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http://dx.doi.org/10.1002/ajmg.a.33813DOI Listing
May 2011

CEMARA an information system for rare diseases.

Stud Health Technol Inform 2010 ;160(Pt 1):481-5

Paris Descartes University, Faculty of Medicine, AP-HP, EA 4067, Department of biostatistics and computer sciences, and Department of genetics, Dermatology unit Necker-Enfants Malades Hospital, Paris, France.

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December 2010

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?

Am J Med Genet A 2010 Mar;152A(3):539-46

Département de Génétique et INSERM U781, AP-HP, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33277DOI Listing
March 2010

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Stud Health Technol Inform 2008 ;136:51-6

Paris Descartes University, UPRESS EA 4067 and Service de Biostatistique et d'Informatique Médicale, APHP - Necker-Enfants Malades Hospital, Paris - France.

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September 2008

Achondroplasia.

Best Pract Res Clin Rheumatol 2008 Mar;22(1):3-18

Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://linkinghub.elsevier.com/retrieve/pii/S152169420700141
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http://dx.doi.org/10.1016/j.berh.2007.12.008DOI Listing
March 2008

Sotos syndrome.

Orphanet J Rare Dis 2007 Sep 7;2:36. Epub 2007 Sep 7.

Department of Medical Genetic, Hospital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1186/1750-1172-2-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2018686PMC
September 2007

Ellis-van Creveld syndrome.

Orphanet J Rare Dis 2007 Jun 4;2:27. Epub 2007 Jun 4.

Centre de Référence des Maladies Osseuses Constitutionnelles, Hôpital Necker-Enfants Malades, 149 rue de Sèvres 75743, Paris Cedex 15, France.

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http://dx.doi.org/10.1186/1750-1172-2-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1891277PMC
June 2007

Familial gigantism caused by an NSD1 mutation.

Am J Med Genet A 2005 Nov;139(1):40-4

Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30973DOI Listing
November 2005

Clinical and molecular overlap in overgrowth syndromes.

Am J Med Genet C Semin Med Genet 2005 Aug;137C(1):4-11

INSERM U393, Département de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 [corrected] Paris, France.

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http://dx.doi.org/10.1002/ajmg.c.30060DOI Listing
August 2005