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Clarisse Baumann

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Céline Poirsier-Violle; Azzedine Abourra; Clarisse Baumann; Yline Capri; Séverine Drunat; Cyril Mignot; Sandrine Passemard; Laurence Perrin; Alain Verloes
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
Lilia Kraoua; Nathalie Pouvreau; Alain Verloes; Hubert Journel; Jeanne Amiel; Clarisse Baumann; Philippe Bonnet; Hélène Cavé
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.
Alain Verloes; D Ville; Alexandra Afenjar; Nadia Bahi-Buisson; Clarisse Baumann; Thierry Billette de Villemeur; Lydie Burglen; Perrine Charles; Vincent des Portes; A Faudet; Delphine Héron; Aurélia Jacquette; Cyril Mignot; Marie-Laure Moutard; S Passemard; Marlène Rio; L Robel; C Rougeot
[Diagnostic investigations for an unexplained developmental disability].

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2013: Céline Poirsier-Violle; Azzedine Abourra; Clarisse Baumann; Yline Capri; Séverine Drunat; Cyril Mignot; Sandrine Passemard; Laurence Perrin; Alain Verloes
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
European journal of medical genetics 2013;56(4):226-8.
2012: Lilia Kraoua; Nathalie Pouvreau; Alain Verloes; Hubert Journel; Jeanne Amiel; Clarisse Baumann; Philippe Bonnet; Hélène Cavé
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.
American journal of medical genetics. Part A 2012;158A(10):2407-11.
2012: Alain Verloes; D Ville; Alexandra Afenjar; Nadia Bahi-Buisson; Clarisse Baumann; Thierry Billette de Villemeur; Lydie Burglen; Perrine Charles; Vincent des Portes; A Faudet; Delphine Héron; Aurélia Jacquette; Cyril Mignot; Marie-Laure Moutard; S Passemard; Marlène Rio; L Robel; C Rougeot
[Diagnostic investigations for an unexplained developmental disability].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2012;19(2):194-207.
2011: Marion Gérard-Blanluet; Véronique Lambert; Suonavy Khung-Savatovsky; Laurence Perrin-Sabourin; Sandrine Passemard; Clarisse Baumann; Anne-Lise Delezoide; Alain Verloes
Aphallia, lung agenesis and multiple defects of blastogenesis.
Fetal and pediatric pathology 2011;30(1):22-6.
2010: Marion Gerard-Blanluet; Marylin Port-Lis; Clarisse Baumann; Laurence Perrin-Sabourin; Patrick Ebrad; Georges Audry; Anne-Lise Delezoide; Alain Verloes
Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency.
American journal of medical genetics. Part A 2010;152A(11):2870-4.
2010: Judith Reiber; Yves Sznajer; Elena Guillén Posteguillo; Dietmar Müller; Stanislas LYONNET; Clarisse Baumann; Walter Just
Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.
American journal of medical genetics. Part A 2010;152A(8):2143.
2010: Judith Reiber; Yves Sznajer; Elena Guillén Posteguillo; Dietmar Müller; Stanislas LYONNET; Clarisse Baumann; Walter Just
Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
American journal of medical genetics. Part A 2010;152A(4):994-9.
2008: Valérie Bélien; Marion Gérard-Blanluet; Stéphane Serero; Nathalie Le Dû; Clarisse Baumann; Marie-Line Jacquemont; Céline Dupont; Kada Krabchi; Séverine Drunat; Annie Elbez; Jean-Claude Janaud; Brigitte Benzacken; Alain Verloes; Anne-Claude Tabet; Azzedine Aboura
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
American journal of medical genetics. Part A 2008;146A(14):1871-4.
2008: Romain Guilherme; Clarisse Baumann; Catherine Garel; Yolène Huten; Jean-François Oury; Anne-Lise Delezoide
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.
American journal of medical genetics. Part A 2008;146A(14):1775-80.
2007: Caroline Nava; Nadine Hanna; Caroline Michot; Sabrina Pereira; Nathalie Pouvreau; Tetsuya Niihori; Yoko Aoki; Yoichi Matsubara; Benoît Arveiler; Didier Lacombe; Eric Pasmant; Béatrice Parfait; Clarisse Baumann; Delphine Héron; Sabine Sigaudy; Annick Toutain; Marlène Rio; Alice Goldenberg; Bruno Leheup; Alain Verloes; Hélène Cavé
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Journal of medical genetics 2007;44(12):763-71.
2007: Pascale Saugier-Veber; Céline Bonnet; Alexandra Afenjar; Valérie Drouin-Garraud; Christine Coubes; Séverine Fehrenbach; Muriel Holder-Espinasse; Joelle Roume; valerie malan; Marie-France Portnoi; Nicolas Jeanne; Clarisse Baumann; Delphine Héron; Albert David; Marion Gérard; Dominique Bonneau; Didier Lacombe; Valérie Cormier-Daire; Thierry Billette de Villemeur; Thierry Frébourg; Lydie Bürglen
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Human mutation 2007;28(11):1098-107.
2007: A Delahaye; Yves Sznajer; Stanislas LYONNET; M Elmaleh-Bergès; I Delpierre; Sophie Audollent; SR Wiener-Vacher; A-L Mansbach; Jeanne Amiel; Clarisse Baumann; D Bremond-Gignac; Tania Attié-Bitach; Alain Verloes; Damien Sanlaville
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
Clinical genetics 2007;72(2):112-21.
2007: Yves Sznajer; Boris Keren; Clarisse Baumann; Sabrina Pereira; Corinne Alberti; Jacques Elion; Hélène Cavé; Alain Verloes
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
Pediatrics 2007;119(6):e1325-31.
2007: Arnaud Garnier; Stéphane Dauger; Danielle Eurin; Ida Parisi; Giancarlo Parenti; Catherine Garel; Katy Delbecque; Clarisse Baumann
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
European journal of pediatrics 2007;166(4):327-31.
2006: Sophie Guilmin-Crépon; Catherine Garel; Clarisse Baumann; Dominique Brémond-Gignac; Isabelle Bailleul-Forestier; Suzel Magnier; Mireille Castanet; Paul Czernichow; Thierry VAN DEN Abbeele; Juliane Léger
High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.
Pediatric research 2006;60(4):478-84.
2006: K R M Lopes; Anne-Lise Delezoide; Clarisse Baumann; Edith Vuillard; Dominique Luton; Y Chitrit; Annabelle Azancot
Prenatal Marfan syndrome: report of one case and review of the literature.
Prenatal diagnosis 2006;26(8):696-9.
2006: Luigi Titomanlio; Irina Giurgea; Clarisse Baumann; Monique Elmaleh; Philippe Sachs; François Chalard; Azzedine Aboura; Alain Verloes
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.
European journal of human genetics : EJHG 2006;14(8):971-4.
2006: Claire Farrington-Rock; Marc H Firestein; Louise S Bicknell; andrea superti-furga; Carlos A Bacino; Valérie Cormier-Daire; Martine Le Merrer; Clarisse Baumann; Joelle Roume; Patrick Rump; Joke B G M Verheij; Elizabeth Sweeney; David L Rimoin; Ralph S Lachman; Stephen P Robertson; Daniel H Cohn; Deborah Krakow
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Human mutation 2006;27(7):705-10.
2006: Alain Verloes; Dominique Bremond-Gignac; Bertrand Isidor; Albert David; Clarisse Baumann; Marie-Anne Leroy; René Stevens; Yves Gillerot; Delphine Héron; Bénédicte Héron; Brigitte Benzacken; Didier Lacombe; Han Brunner; Pierre Bitoun
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
American journal of medical genetics. Part A 2006;140(12):1285-96.
2006: Guillaume Jondeau; Martine Barthelet; Clarisse Baumann; Damien Bonnet; Bertrand Chevallier; Patrick Collignon; Yves Dulac; Thomas Edouard; Laurence Faivre; Dominique Germain; Philippe Khau van Kien; Didier Lacombe; Magalie Ladouceur; Martine LeMerrer; Bruno Leheup; Jean-Marc Lupoglazoff; Suzel Magnier; Christine Muti; Pr Henri Plauchu; Bernadette Raffestin; F Sassolas; Jean-Marc Schleich; Daniel Sidi; Christine Themar-Noël; Jean Varin; Jean-Eric Wolf
[Recommendations for the medical management of aortic complications of Marfan's syndrome].
Archives des maladies du coeur et des vaisseaux 2006;99(5):540-6.
2006: Laurent J Salomon; Clarisse Baumann; Anne-Lise Delezoide; Jean-François Oury; Danièle Pariente; Guy Sebag; Catherine Garel
Abnormal abdominal situs: what and how should we look for?
Prenatal diagnosis 2006;26(3):282-5.
2006: Tetsuya Niihori; Yoko Aoki; Yoko Narumi; Giovanni Neri; Hélène Cavé; Alain Verloes; Nobuhiko Okamoto; Raoul Hennekam; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek; Maria Ines Kavamura; Kenji Kurosawa; Hirofumi Ohashi; Louise Wilson; Delphine Heron; Dominique Bonneau; Giuseppina Corona; Tadashi Kaname; Kenji Naritomi; Clarisse Baumann; Naomichi Matsumoto; Kumi Kato; Shigeo Kure; Yoichi Matsubara
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Nature genetics 2006;38(3):294-6.
2005: Alice Hadchouel; Marc Bellaiche; Clarisse Baumann; Gérard Darnaud; Alaa El-Ghoneimi; Latifa Ferkdadji; Monique Elmaleh; Alain Verloes
Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?
European journal of medical genetics 2005;48(4):367-76.
2005: Luigi Titomanlio; Clarisse Baumann; Gheorghe Bonyhay; Yolène Huten; Jean-François Oury; Edith Vuillard; Catherine Garel; Patricia Terdjman; Alain Verloes; Anne-Lise Delezoide
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria.
American journal of medical genetics. Part A 2005;138(1):1-5.
2005: Luigi Titomanlio; Selim Bennaceur; Dominique Bremond-Gignac; Clarisse Baumann; Olivier Dupuy; Alain Verloes
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
American journal of medical genetics. Part A 2005;137A(3):332-5.
2005: Alain Verloes; Catherine Garel; Stephen Robertson; Martine Le Merrer; Clarisse Baumann
Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?
American journal of medical genetics. Part A 2005;137(2):199-203.
2005: Dominique Brémond-Gignac; Marion Gérard-Blanluet; Henri Copin; Pierre Bitoun; Clarisse Baumann; John A Crolla; Brigitte Benzacken; Alain Verloes
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.
American journal of medical genetics. Part A 2005;134(4):422-5.
2005: Damien Sanlaville; David Genevieve; Céline Bernardin; Jeanne Amiel; Clarisse Baumann; Marie-Christine De Blois; Valérie Cormier-Daire; Bénédicte Gerard; Marion Gerard; Martine Le Merrer; Philippe Parent; Fabienne Prieur; Marguerite Prieur; Odile Raoul; Annick Toutain; Alain Verloes; Géraldine Viot; Serge Romana; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Catherine Turleau
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
European journal of human genetics : EJHG 2005;13(5):690-3.
2005: Dominique Brémond-Gignac; John A Crolla; Henri Copin; Agnès Guichet; Dominique Bonneau; Laurence Taine; Didier Lacombe; Clarisse Baumann; Brigitte Benzacken; Alain Verloes
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
European journal of human genetics : EJHG 2005;13(4):409-13.
2005: Houda Karmous-Benailly; Anne-Claude Tabet; Adeline Thaly; Olivier Dupuy; Yolène Huten; Dominique Luton; Clarisse Baumann; Anne-Lise Delezoide
Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?
Prenatal diagnosis 2005;25(3):193-7.
2005: David Cohen; Nadège Pichard; Sylvie Tordjman; Clarisse Baumann; Lydie Burglen; Elsa Excoffier; Gabriela Lazar; Philippe Mazet; Clément Pinquier; Alain Verloes; Delphine Héron
Specific genetic disorders and autism: clinical contribution towards their identification.
Journal of autism and developmental disorders 2005;35(1):103-16.
2005: Clarisse Baumann; R Delagarde; Edith Vuillard; Jean-François Oury
[Long-term follow-up of children with increased nuchal translucency and normal karyotype].
Journal de gynécologie, obstétrique et biologie de la reproduction 2005;34(1 Suppl):S97-102.
2004: Boris Keren; A Hadchouel; S Saba; Yves Sznajer; Dominique Bonneau; Bruno Leheup; Odile Boute; D Gaillard; Didier Lacombe; Valérie Layet; Sandrine Marlin; Geert R Mortier; Annick Toutain; C Beylot; Clarisse Baumann; Alain Verloes; Hélène Cavé
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Journal of medical genetics 2004;41(11):e117.
2004: David Genevieve; Clarisse Baumann; C Huber; Laurence Faivre; Damien Sanlaville; Christine Bodemer; Smaïl Hadj-Rabia; Antoine Assoumou; Alain Verloes; F Raqbi; Arnold Munnich; Valérie Cormier-Daire
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.
Journal of medical genetics 2004;41(6):e77.
2003: Yves Sznajer; Clarisse Baumann; Albert David; Hubert Journel; Didier Lacombe; Yves Perel; Pascale Blouin; Jean-François Segura; Jean-Pierre Cezard; Michel Peuchmaur; Tom Vulliamy; Inderjeet Dokal; Alain Verloes
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
European journal of pediatrics 2003;162(12):863-7.
2003: Alain Verloes; Jean-Paul Misson; Philippe Gillet; Clarisse Baumann; Micheline Spiritus; Manuel Deprez
Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
Annales de génétique 2003;46(4):449-52.
2003: Clarisse Baumann; Catherine Garel; Lucille Vuillemain; Max Hassan; Alain Verloes
Severely delayed epiphyseal ossification dysplasia with normal stature.
American journal of medical genetics. Part A 2003;120A(4):553-6.
2003: Annabelle Azancot; R Diehl; Sophie Dorgeret; Guy Sebag; Clarisse Baumann; Edith Vuillard; L Machado; Dominique Luton; Jean-François Oury
Isolated pericardial effusion in the human fetus: a report of three cases.
Prenatal diagnosis 2003;23(3):193-7.
2002: Alain Verloes; Philippe Lepage; Clarisse Baumann; Pierre Maroteaux; Martine Le Merrer
Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.
American journal of medical genetics 2002;113(4):362-6.
2002: Damien Sanlaville; Serge Romana; Jean-Michel Lapierre; Jeanne Amiel; David Genevieve; Catherine Ozilou; M Le Lorch; Sophie Brisset; Philippe Gosset; Clarisse Baumann; Catherine Turleau; Stanislas LYONNET; Michel Vekemans
A CGH study of 27 patients with CHARGE association.
Clinical genetics 2002;61(2):135-8.
2001: Laurence Faivre; Martine Le Merrer; Clarisse Baumann; M Polak; P Chatelain; V Sulmont; J Cousin; Michel Bost; M P Cordier; E Zackai; K Russell; Georges Finidori; Jean-Claude Pouliquen; Arnold Munnich; Pierre Maroteaux; Valérie Cormier-Daire
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
Journal of medical genetics 2001;38(11):745-9.
2001: Clarisse Baumann; R Delagarde; Edith Vuillard; Jean-François Oury
[Pregnancy outcome and infant follow-up after diagnosis of nuchal anomalies at the 1st or 2nd trimester ultrasound examination].
Journal de gynécologie, obstétrique et biologie de la reproduction 2001;30(1 Suppl):68-74.
2000: Bénédicte Gérard; N Ginet; G Matthijs; P Evrard; Clarisse Baumann; F da Silva; Marion Gérard-Blanluet; M Mayer; Bernard Grandchamp; Jacques Elion
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.
Human mutation 2000;16(3):253-63.
2000: Annabelle Azancot; Patrice Eydoux; Edith Vuillard; V Cusin; Clarisse Baumann; Philippe Blot
[Clinical spectrum of prenatal tetralogy of Fallot].
Archives des maladies du coeur et des vaisseaux 2000;93(5):587-93.
1999: Damien Sanlaville; Clarisse Baumann; Jean-Michel Lapierre; Serge Romana; N Collot; V Cacheux; Catherine Turleau; Gérard Tachdjian
De novo inverted duplication 9p21pter involving telomeric repeated sequences.
American journal of medical genetics 1999;83(2):125-31.
1998: AL Tellier; Valérie Cormier-Daire; Véronique Abadie; Jeanne Amiel; Sabine Sigaudy; Damien Bonnet; Pascale De Lonlay-Debeney; M P Morrisseau-Durand; P Hubert; J L Michel; Dominique M. Jan; Hélène Dollfus; Clarisse Baumann; P Labrune; Didier Lacombe; N Philip; M LeMerrer; Marie Louise Briard; Arnold Munnich; Stanislas LYONNET
CHARGE syndrome: report of 47 cases and review.
American journal of medical genetics 1998;76(5):402-9.