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1

Les carcinomes adénoïdes kystiques ORL : une étude multicentrique prospective REFCOR de 95 cas

Meyers, M., Granger, B., Herman, P., Janot, F., Garrel, R., Fakhry, N., Poissonnet, G., Baujat, B.

Journal:

Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale

Year:

2016

Language:

french

File:

PDF, 509 KB

french, 2016

2

Les pathologistes et le réseau d’expertise français sur les cancers ORL rares : le REFCORpath

Badoual, Cécile, Baglin, Anne-Catherine, Wassef, Michel, Thariat, Juliette, Reyt, Emile, Janot, François, Baujat, Bertrand

Journal:

Annales de Pathologie

Year:

2014

File:

PDF, 2.21 MB

2014

3

Meta-analysis of chemotherapy in head and neck cancer (MACH-NC): A comprehensive analysis by tumour site

Pierre Blanchard, Bertrand Baujat, Victoria Holostenco, Abderrahmane Bourredjem, Charlotte Baey, Jean Bourhis, Jean-Pierre Pignon

Journal:

Radiotherapy and Oncology

Year:

2011

Language:

english

File:

PDF, 325 KB

english, 2011

4

French guidelines for the management of fibrous dysplasia and Mccune Albright syndrome

P. Orcel, C. Rey-Jouvin, V. Bousson, M. Le Merrer, G. Baujat, R.D. Chapurlat

Journal:

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

5

Étude rétrospective de 74 patients avec anomalies de la segmentation vertébrale : démarche diagnostique et investigations génétiques

Lefebvre, Mathilde, Dieux-Coeslier, Anne, Baujat, Geneviève, Schaefer, Elise, Francannet, Christine, Bazin, Anne, Attié-Bittach, Tania, Verloes, Alain, Pierquin, Geneviève, Doray, Bérénice, Vincent-De

Journal:

Year:

2018

Language:

french

File:

PDF, 162 KB

french, 2018

6

Adrenal Insufficiency and Abnormal Genitalia in a 46XX Female with Smith-Lemli-Opitz Syndrome

Chemaitilly, W., Goldenberg, A., Baujat, G., Thibaud, E., Cormier-Daire, V., Abadie, V.

Journal:

Hormone Research

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

7

Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

A. Brassier, C. Ottolenghi, N. Boddaert, P. Sonigo, T. Attié-Bitach, A.-E. Millischer-Bellaiche, G. Baujat, V. Cormier-Daire, V. Valayannopoulos, N. Seta, M. Piraud, B. Chadefaux-Vekemans, C. Vianey-S

Journal:

Archives de Pédiatrie

Year:

2012

Language:

english

File:

PDF, 851 KB

english, 2012

8

Féminisation fronto-orbitaire: le sinus frontal transsexuel

Baujat, B., Villepelet, A., Jafari, A., Meyers, M., Mazzaschi, O., De crouy chanel, O.

Journal:

Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale

Year:

2014

Language:

french

File:

PDF, 54 KB

french, 2014

9

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

Geneviève Baujat,Rémy Choquet,Stéphane Bouée…

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 644 KB

english, 2017

10

Chemotherapy in locally advanced nasopharyngeal carcinoma: An individual patient data meta-analysis of eight randomized trials and 1753 patients

Bertrand Baujat, Hélène Audry, Jean Bourhis, Anthony T.C. Chan, Haluk Onat, Daniel T.T. Chua, Dora L.W. Kwong, Muhyi al-Sarraf, Kwan-Hwa Chi, Masato Hareyama, Sing F. Leung, Kullathorn Thephamongkhol,

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

2006

Language:

english

File:

PDF, 886 KB

english, 2006

11

Ellis-Van Creveld syndrome

Geneviève Baujat, Martine Le Merrer

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 404 KB

english, 2007

12

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Lefebvre, Mathilde, Dieux-Coeslier, Anne, Baujat, Geneviève, Schaefer, Elise, Judith, Saint-Onge, Bazin, Anne, Pinson, Lucile, Attie-Bitach, Tania, Baumann, Clarisse, Fradin, Melanie, Pierquin, Genevi

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 984 KB

english, 2018

13

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin, Jacqueline Stella, Martine Le Merrer, Geneviève Guest, Karen Lambot, Marie-Frederique Tazarourte-Pinturier, Nicol

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 852 KB

english, 2012

14

Rehabilitación de la parálisis facial

Baujat, B., Gangloff, P.

Journal:

EMC - Cirugia Otorrinolaringologica y Cervicofacial

Year:

2015

Language:

spanish

File:

PDF, 3.37 MB

spanish, 2015

15

A graphical method for exploring heterogeneity in meta-analyses: application to a meta-analysis of 65 trials

Bertrand Baujat, Cédric Mahé, Jean-Pierre Pignon, Catherine Hill

Journal:

Statistics in Medicine

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

16

Familial gigantism caused by an NSD1 mutation

Mieke M. van Haelst, Jeannette J.M. Hoogeboom, Genevieve Baujat, Hennie T. Brüggenwirth, Ingrid Van de Laar, Kim Coleman, Nazneen Rahman, Martinus F. Niermeijer, Sten L.S. Drop, Peter J. Scambler

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 208 KB

english, 2005

17

Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish

Bhatia, Shipra, Gordon, Christopher T., Foster, Robert G., Melin, Lucie, Abadie, Véronique, Baujat, Geneviève, Vazquez, Marie-Paule, Amiel, Jeanne, Lyonnet, Stanislas, van Heyningen, Veronica, Kleinja

Journal:

Year:

2015

Language:

english

File:

PDF, 15.36 MB

english, 2015

18

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Baujat, G., Huber, C., El Hokayem, J., Caumes, R., Do Ngoc Thanh, C., David, A., Delezoide, A.-L., Dieux-Coeslier, A., Estournet, B., Francannet, C., Kayirangwa, H., Lacaille, F., Le Bourgeois, M., Ma

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 344 KB

english, 2013

19

Sotos syndrome

Geneviève Baujat, Valérie Cormier-Daire

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 219 KB

english, 2007

20

Hypophosphatasia: The Disease in Adults

Geneviève Baujat, Valérie Cormier-Daire…

Journal:

Clinical Reviews in Bone and Mineral Metabolism

Year:

2013

Language:

english

File:

PDF, 170 KB

english, 2013

21

Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome

WelfringerâMorin, Anne, Pinto, Graziella, Baujat, GeneviÃ¨ve, Vial, Yoann, HadjâRabia, Smail, Bodemer, Christine, Boccara, Olivia

Journal:

Pediatric Dermatology

Year:

2020

File:

PDF, 1.21 MB

2020

22

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Kou, Samuel, De Cunto, Carmen, Baujat, GeneviÃ¨ve, Wentworth, Kelly L., Grogan, Donna R., Brown, Matthew A., Di Rocco, Maja, Keen, Richard, Al Mukaddam, Mona, le Quan Sang, Kim-Hanh, Masharani, Umesh,

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 473 KB

2020

23

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Bé

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 584 KB

english, 2016

24

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

Maja Di Rocco,Genevieve Baujat,Marta Bertamino…

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 348 KB

english, 2017

25

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Boussion, Simon, Escande, Fabienne, Jourdain, Anne-Sophie, Smol, Thomas, Brunelle, Perrine, Duhamel, CÃ©line, Alembik, Yves, AttiÃ©-Bitach, Tania, Baujat, GeneviÃ¨ve, Bazin, Anne, BonniÃ¨re, Maryse, C

Journal:

Year:

2020

File:

PDF, 777 KB

2020

26

Cochrane Database of Systematic Reviews (Reviews) || Hyperfractionated or accelerated radiotherapy for head and neck cancer

Baujat, Bertrand

Year:

1996

Language:

english

File:

PDF, 1.29 MB

english, 1996

27

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

Pignolo, Robert J., Baujat, Geneviève, Brown, Matthew A., De Cunto, Carmen, Di Rocco, Maja, Hsiao, Edward C., Keen, Richard, Al Mukaddam, Mona, Sang, Kim-Hanh Le Quan, Wilson, Amy, White, Barbara, Gro

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 246 KB

2019

28

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

Pignolo, Robert J., Baujat, Geneviève, Brown, Matthew A., De Cunto, Carmen, Di Rocco, Maja, Hsiao, Edward C., Keen, Richard, Al Mukaddam, Mona, Sang, Kim-Hanh Le Quan, Wilson, Amy, White, Barbara, Gro

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 246 KB

english, 2019

29

Severe malaria among children in a low seasonal transmission area, Dakar, Senegal: influence of age on clinical presentation

P. Imbert, I. Sartelet, C. Rogier, S. Ka, G. Baujat, D. Candito

Journal:

Transactions of the Royal Society of Tropical Medicine and Hygiene

Year:

1997

Language:

english

File:

PDF, 420 KB

english, 1997

30

Early feeding resistance: A possible consequence of neonatal oro-oesophageal dyskinesia

V Abadie, A André, A Zaouche, B Thouvenin, G Baujat, J Schmitz

Journal:

Acta Paediatrica

Year:

2001

Language:

english

File:

PDF, 305 KB

english, 2001

31

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

Mehawej, Cybel, Courcet, Jean-Benoît, Baujat, Geneviève, Mouy, Richard, Gérard, Marion, Landru, Isabelle, Gosselin, Morgane, Koehrer, Philippe, Mousson, Christiane, Breton, Sylvain, Quartier, Pierre,

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 192 KB

english, 2013

32

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

Petit, F., Jourdain, A.-S., Andrieux, J., Baujat, G., Baumann, C., Beneteau, C., David, A., Faivre, L., Gaillard, D., Gilbert-Dussardier, B., Jouk, P.-S., Le Caignec, C., Loget, P., Pasquier, L., Porc

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 689 KB

english, 2014

33

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 690 KB

english, 2015

34

The influence of barbiturates on the hemodynamics during extracorporeal circulation. Thiopental vs methohexital

Baujat, G., Topouchian, V., Odent, T., Rio, M., Glorion, C., Finidori, G., Cormier-Daire, V., Le Merrer, M.

Journal:

Journal of Cardiothoracic Anesthesia

Year:

1987

Language:

english

File:

PDF, 108 KB

english, 1987

35

Mutation in MMP2 gene may result in scleroderma-like skin thickening: Figure 1

Bader-Meunier, B, Bonafé, L, Fraitag, S, Breton, S, Bodemer, C, Baujat, G

Journal:

Annals of the Rheumatic Diseases

Year:

2015

Language:

english

File:

PDF, 385 KB

english, 2015

36

Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases

Mandonnet, Emmanuel, Anract, Philippe, Martin, Elisabeth, Roujeau, Thomas, Spena, Giannantonio, Cormier-Daire, Valérie, Duffau, Hugues, Baujat, Genneviève

Journal:

Clinical Neurology and Neurosurgery

Year:

2017

Language:

english

File:

PDF, 3.26 MB

english, 2017

37

Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype

Dudoignon, Benjamin, Huber, Celine, Michot, Caroline, Di Rocco, Federico, Girard, Muriel, Lyonnet, Stanislas, Rio, Marlène, Rabia, Smail Hadj, Daire, Valérie Cormier, Baujat, Geneviève

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 1.64 MB

2019

38

Ostéoporose juvénile associée à des « Calvarial Doughnuts » : une ostéoporose évolutive, à haut remodelage osseux, évoluant favorablement sous bisphosphonates

Couture, Guillaume, Degboe, Yannick, Baujat, Geneviève, Cormier-Daire, Valérie, Laroche, Michel

Journal:

Revue du Rhumatisme

Year:

2019

File:

PDF, 439 KB

2019

39

Impact of the first month of Covid-19 lockdown on oncologic surgical activity in the Ile de France region university hospital otorhinolaryngology departments

Laccourreye, O., Mirghani, H., Evrard, D., Bonnefont, P., Brugel, L., Tankere, F., Coste, A., Barry, B., Baujat, B., Atallah, S., Kania, R.

Journal:

European Annals of Otorhinolaryngology, Head and Neck Diseases

Year:

2020

File:

PDF, 354 KB

2020

40

Craniofacial fibrous dysplasia surgery: A functional approach

Béquignon, E., Cardinne, C., Lachiver, X., Wagner, I., Chabolle, F., Baujat, B.

Journal:

European Annals of Otorhinolaryngology, Head and Neck Diseases

Year:

2013

Language:

english

File:

PDF, 1.57 MB

english, 2013

41

Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Lehalle, Daphné, Gordon, Christopher T., Oufadem, Myriam, Goudefroye, Géraldine, Boutaud, Lucile, Alessandri, Jean-Luc, Baena, Neus, Baujat, Geneviève, Baumann, Clarisse, Boute-Benejean, Odile, Caumes

Journal:

Year:

2014

Language:

english

File:

PDF, 652 KB

english, 2014

42

Essai de phase 2a du sirolimus dans les hypertrophies liées à PIK3CA (PROMISE) : données préliminaires de tolérance dans la cohorte française

Luu, M., Fleck, C., Hadj-Rabia, S., Martin, L., Bessis, D., Coubes, C., Willems, M., Pinson, L., Vincent-Delorme, C., Phan, A., Baujat, G., Amiel, J., Loffroy, R., Bardou, M., Faivre, L., Vabres, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2016

Language:

french

File:

PDF, 60 KB

french, 2016

43

PAPSS2 ‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nico

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.95 MB

english, 2019

44

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

Distinguin, Léa, Louis, Bruno, Baujat, Geneviève, Amaddeo, Alessandro, Fauroux, Brigitte, Couloigner, Vincent, Simon, François, Leboulanger, Nicolas

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2019

Language:

english

File:

PDF, 676 KB

english, 2019

45

Clinical and molecular spectrum of nonâsyndromic earlyâonset osteoarthritis

Ruault, Valentin, Yauy, Kevin, Fabre, AurÃ©lie, Fradin, MÃ©lanie, VanâGils, Julien, ChloÃ©Angelini,, Baujat, GeneviÃ¨ve, Blanchet, Patricia, Cuinat, Silvestre, Isidor, Bertrand, Jorgensen, Christia

Journal:

Arthritis & Rheumatology

Year:

2020

File:

PDF, 8.92 MB

2020

46

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

Redon, Richard, Baujat, Geneviève, Sanlaville, Damien, Le Merrer, Martine, Vekemans, Michel, Munnich, Arnold, Carter, Nigel P, Cormier-Daire, Valérie, Colleaux, Laurence

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 370 KB

english, 2006

47

Cervical node of unknown primary: Patterns of care and factors influencing the choice of clinical target volumes

Troussier, Idriss, Bensadoun, René-Jean, Chamorey, Emmanuel, Lapeyre, Michel, Baujat, Bertrand, Leysalle, Axel, Sun, Xu Shan, Pointreau, Yoann, Calugaru, Valentin, Pan, Quiong, Ovidiu, Veresezan, Schu

Journal:

Year:

2014

Language:

english

File:

PDF, 611 KB

english, 2014

48

Hémorragie sous-périostée orbitaire après un effort de vomissement

Bach, C.-A., Coquille, F., Toussain, G., Krastinova, D., Baujat, B., Chabolle, F.

Journal:

Revue de Stomatologie et de Chirurgie Maxillo-faciale

Year:

2010

File:

PDF, 245 KB

2010

49

Histoire naturelle de la mucopolysaccharidose IV de type A (maladie de Morquio A)

Baujat, G., Valayannopoulos, V.

Journal:

Archives de Pédiatrie

Year:

2014

File:

PDF, 580 KB

2014

50

Clinical and neuroradiological features of the 9p deletion syndrome

Spazzapan, Peter, Arnaud, Eric, Baujat, Genevieve, Nizon, Mathilde, Malan, Valerie, Brunelle, Francis, Di Rocco, Federico

Journal:

Child's Nervous System

Year:

2016

Language:

english

File:

PDF, 3.39 MB

english, 2016

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