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Frédéric Huet

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F Coron; Véronica Cusin; M-A Delrue; Y Dulac; C Binquet; catherine boileau; C Cassini; P Collignon; E Gautier; L Gouya; N Hanna; Frédéric Huet; L Joly; G Jondeau; B Leheup; G Mace; S Odent; H Plauchu; Thierry Rousseau; P Sagot; Christel Thauvin-Robinet; J Thevenon; J E Wolf; Laurence Faivre
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Jean-Benoît Courcet; Laurence Duplomb; Laurence Faivre; Nadège Gigot; Frédéric Huet; Laetitia Lambert; Martine Lemesle; Estelle Lopez; Perrine Malzac; N Marle; Alice Masurel-Paulet; Anne Moncla; Anne-Laure Mosca-Boidron; Christophe Philippe; Clémence Ragon; Patrick Callier; Julien Thevenon; Christel Thauvin-Robinet
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Marie Bournez; Gil Bellis; Frédéric Huet
Growth during puberty in cystic fibrosis: a retrospective evaluation of a French cohort.

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All Publications

2012: F Coron; Véronica Cusin; M-A Delrue; Y Dulac; C Binquet; catherine boileau; C Cassini; P Collignon; E Gautier; L Gouya; N Hanna; Frédéric Huet; L Joly; G Jondeau; B Leheup; G Mace; S Odent; H Plauchu; Thierry Rousseau; P Sagot; Christel Thauvin-Robinet; J Thevenon; J E Wolf; Laurence Faivre
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Prenatal diagnosis 2012;32(13):1318-23.
2012: Jean-Benoît Courcet; Laurence Duplomb; Laurence Faivre; Nadège Gigot; Frédéric Huet; Laetitia Lambert; Martine Lemesle; Estelle Lopez; Perrine Malzac; N Marle; Alice Masurel-Paulet; Anne Moncla; Anne-Laure Mosca-Boidron; Christophe Philippe; Clémence Ragon; Patrick Callier; Julien Thevenon; Christel Thauvin-Robinet
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Journal of medical genetics 2012;49(12):731-6.
2012: Marie Bournez; Gil Bellis; Frédéric Huet
Growth during puberty in cystic fibrosis: a retrospective evaluation of a French cohort.
Archives of disease in childhood 2012;97(8):714-20.
2012: Christel Thauvin-Robinet; M Antin; N Calmels; C Cassini; D Chantereau; Mireille Cossée; Jean-Vital De Monléon; S Drunat; Laurence Faivre; B Gérard; Frédéric Huet; A Masurel-Paulet; P Sagot; P Saugier Veber; Pierre Soichot
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
American journal of medical genetics. Part A 2012;158A(7):1735-41.
2012: Marie Hervieu-Bégue; Frédéric Huet; Agnès Jacquin; Apolline Kazemi; Nassima Nezzal; Guy-Victor Osseby; Mondher Souchane; Véronique Darmency-Stamboul; Maurice Giroud; Yannick Béjot
[Stroke in children: a medical emergency].
Presse médicale (Paris, France : 1983) 2012;41(5):518-24.
2012: Estelle Lopez; Anne Moncla; Sylvie Odent; Damien Sanlaville; Christel Thauvin-Robinet; Bernard Aral; Armand Bottani; Patrick Callier; Valérie Cormier-Daire; Bérénice Doray; Laurence Duplomb; Alice Goldenberg; Lucie Gueneau; Frédéric Huet; Didier Lacombe; Sandy Lambert; Laurence Faivre
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
American journal of medical genetics. Part A 2012;158A(2):333-9.
2012: Juliette Piard; Eve Puzenat; Marlène Rio; Marc Tardieu; Annick Toutain; Pierre VABRES; Bernard Aral; Didier Bessis; Odile Boute; Patrick Callier; Benoît Catteau; Laurence Faivre; Jerôme Franques; Nadège Gigot; Alice Goldenberg; Lucie Gueneau; Muriel Holder-Espinasse; Frédéric Huet; Kay MacDermot; Christel Thauvin-Robinet
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
European journal of medical genetics 2012;55(1):8-11.
2011: Sabina Benko; Atle Brendehaug; Ove Bruland; Patrick Callier; Michel David; Frédérique Dijoud; Laurence Faivre; Christopher Gordon; Vincent Harley; Gunnar Houge; Frédéric Huet; Audrey Labalme; Valerie Malan; Delphine Mallet; Anders Molven; Yves Morel; Arnold Munnich; Marc Nicolino; Damien Sanlaville; Rajini Sreenivasan; Christel Thauvin-Robinet; Sophie Thomas; Jeanne Amiel; Stanislas Lyonnet
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
Journal of medical genetics 2011;48(12):825-30.
2011: Salima El Chehadeh-Djebbar; Laurence Faivre; Anne-Marie Frances; Nadège Gigot; Lucie Gueneau; Frédéric Huet; N Marle; Alice Masurel-Paulet; Chantal Missirian; Anne Moncla; Anne-Laure Mosca-Boidron; Francine Mugneret; Muriel Payet; Cornel Popovici; Clémence Ragon; Patrick Rump; Jean-Raymond Teyssier; Christel Thauvin-Robinet; Anthonie Van Essen; Bernard Aral; Irina Balikova; Véronica Cusin; Patrick Callier
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
Journal of medical genetics 2011;48(11):e1.
2011: Salima El Chehadeh-Djebbar; Patrick Callier; Alice Masurel-Paulet; Candace Bensignor; Nathalie Méjean; Muriel Payet; Clémence Ragon; Christine Durand; Nathalie Marle; Anne-Laure Mosca-Boidron; Frédéric Huet; Francine Mugneret; Laurence Faivre; Christel Thauvin-Robinet
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
European journal of medical genetics 2011;54(3):369-73.
2011: Julien Thevenon; Patrick Callier; Christel Thauvin-Robinet; Nathalie Mejean; Sylvie Falcon-Eicher; Marc Maynadie; Emmanuel de Maistre; Samuel Bidot; Frédéric Huet; Mylène Beri-Dexheimer; Philippe Jonveaux; Francine Mugneret; Laurence Faivre
De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.
American journal of medical genetics. Part A 2011;155A(1):126-9.
2010: Isabelle Fournel; M Soulias; Jean Baptiste Bour; Jean-Bernard Gouyon; Frédéric Huet; ludwig aho
[Evolution of the number of rotavirus and respiratory syncytial virus infections in children hospitalised in a French university hospital between 1998 and 2005].
Pathologie-biologie 2010;58(6):406-14.
2010: Cécile Pitoiset; Magali Darniot; Frédéric Huet; Serge-Ludwig Aho; Pierre Pothier; Catherine Manoha
Human metapneumovirus genotypes and severity of disease in young children (n = 100) during a 7-year study in Dijon hospital, France.
Journal of medical virology 2010;82(10):1782-9.
2010: Laurence Faivre; Philippe Khau van Kien; Patrick Callier; Nathalie Ruiz-Pallares; Corinne Baudoin; Aurélie Plancke; Jean-Eric Wolf; Christel Thauvin-Robinet; Edith Durand; Delphine Minot; Véronique Dulieu; Jean-Damien Metaizeau; Bruno Leheup; Fanny Coron; Samuel Bidot; Frédéric Huet; Guillaume Jondeau; catherine boileau; Mireille Claustres; Francine Mugneret
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
European journal of medical genetics 2010;53(4):208-12.
2010: L Joly; Christel Thauvin-Robinet; Frédéric Huet; Jean-Michel Pinoit; A Contrain; C Cassini; F Coron; E Gautier; Bernard Bonin; M Gargiulo; D Heron; A Dürr; Laurence Faivre
[Genetic testing in asymptomatic minors: a survey among French geneticists].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2010;17(7):1000-7.
2010: S El Chehadeh; C Bensignor; Jean-Vital De Monléon; N Méjean; Frédéric Huet
The pituitary stalk interruption syndrome: endocrine features and benefits of growth hormone therapy.
Annales d'endocrinologie 2010;71(2):102-10.
2009: Laurence Faivre; A Masurel-Paulet; Patrick Callier; N Mejean; S Gay; M Grimaldi; Francine Mugneret; Frédéric Huet; Christel Thauvin-Robinet
Vertebral defects as an unusual mode of presentation of 22q11.2 deletion.
American journal of medical genetics. Part A 2009;149A(12):2865-6.
2008: Sébastien Gay; Delphine Dupuis; Laurence Faivre; Alice Masurel-Paulet; Marc Labenne; Marina Colombani; Pierre Soichot; Frédéric Huet; Bernard Hainque; Damien Sternberg; Bertrand Fontaine; Jean-Bernard Gouyon; Christel Thauvin-Robinet
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.
American journal of medical genetics. Part A 2008;146(3):380-3.
2007: Patrick Callier; Laurence Faivre; N Marle; Christel Thauvin-Robinet; Anne-Laure Mosca; A Masurel-Paulet; Joséphine Borgnon; S Falcon-Eicher; Alain Danino; Gabriel Malka; M Le Merrer; Frédéric Huet; Francine Mugneret
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
European journal of medical genetics 2007;50(6):455-64.
2007: Marina Colombani; Daniel Cau; Emmanuel Sapin; Frédéric Huet; Laurence Faivre
Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer-Rokitansky-Kuster-Hauser syndrome.
Acta paediatrica (Oslo, Norway : 1992) 2007;96(9):1371-2.
2007: Christel Thauvin-Robinet; Patrick Callier; Nicole Laurent; Thierry Rousseau; A Masurel-Paulet; N Marle; Frédéric Huet; Paul Sagot; Laurence Faivre; Francine Mugneret
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation.
Prenatal diagnosis 2007;27(6):555-9.
2007: Marianne Grimaldi; Béatrice Gouyon; Paul Sagot; Catherine Quantin; Frédéric Huet; Jean-Bernard Gouyon
Palivizumab efficacy in preterm infants with gestational age < or = 30 weeks without bronchopulmonary dysplasia.
Pediatric pulmonology 2007;42(3):189-92.
2007: Anne-Laure Mosca; Nicole Laurent; Laurent Guibaud; Patrick Callier; Christel Thauvin-Robinet; Francine Mugneret; Frédéric Huet; Marianne Grimaldi; Jean-Bernard Gouyon; Dominique Sandre; Laurence Faivre
Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?
European journal of medical genetics 2007;50(1):48-53.
2007: Christel Thauvin-Robinet; Nicole Laurent; Thierry Rousseau; Stéphanie Couvreur; Véronica Cusin; Patrick Callier; Francine Mugneret; Christine Durand; Frédéric Huet; Paul Sagot; Laurence Faivre
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?
European journal of medical genetics 2007;50(1):85-91.
2006: Marina Colombani; Nicole Laurent; Martine Le Merrer; Anne-Lise Delezoide; Christel Thauvin-Robinet; Frédéric Huet; Paul Sagot; Stéphanie Couvreur; Thierry Rousseau; Stephen P Robertson; Laurence Faivre
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.
Prenatal diagnosis 2006;26(12):1151-5.
2006: Catherine Neuwirth; Carine Freby; Agathe Ogier-Desserrey; Stéphanie Perez-Martin; Anne Houzel; André Péchinot; Jean-Marie Duez; Frédéric Huet; Eliane SIEBOR
VEB-1 in Achromobacter xylosoxidans from cystic fibrosis patient, France.
Emerging infectious diseases 2006;12(11):1737-9.
2006: Marina Colombani; Mondher Chouchane; Gaelle Pitelet; Laure Morales; Patrick Callier; Jean-Pierre Pinard; Laurence Lion-François; Christel Thauvin-Robinet; Francine Mugneret; Frédéric Huet; Laurent Guibaud; Laurence Faivre
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.
European journal of medical genetics 2006;49(6):466-71.
2006: Patrick Callier; Laurence Faivre; N Marle; Christel Thauvin-Robinet; Damien Sanlaville; P Gosset; Marguerite Prieur; M Labenne; Frédéric Huet; Francine Mugneret
Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.
American journal of medical genetics. Part A 2006;140A(17):1859-63.
2006: Anne Donzel-Javouhey; Christel Thauvin-Robinet; Véronica Cusin; Nathalie Madinier; Eric Manceau; Dominique Dipanda; Véronique Dulieu; Francine Mugneret; Frédéric Huet; Jean-Raymond Teyssier; Laurence Faivre
A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.
American journal of medical genetics. Part A 2006;140(14):1603-7.
2006: Laurence Faivre; Kathleen A Williamson; Valérie Faber; Nicole Laurent; Marianne Grimaldi; Christel Thauvin-Robinet; Christine Durand; Francine Mugneret; Jean-Bernard Gouyon; Alain Bron; Frédéric Huet; Caroline Hayward; Veronica van Heyningen; David R FitzPatrick
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.
American journal of medical genetics. Part A 2006;140(6):636-9.
2006: Emmanuel Gounot; Joséphine Borgnon; Frédéric Huet; Emmanuel Sapin
Isolated isoperistaltic gastric tube interposition for esophageal replacement in children.
Journal of pediatric surgery 2006;41(3):592-5.
2006: Christel Thauvin-Robinet; Laurence Faivre; Frédéric Huet; Pierre Journeau; Christophe Glorion; Pierre Rustin; Agnès Rötig; Arnold Munnich; Valérie Cormier-Daire
Another observation with VATER association and a complex IV respiratory chain deficiency.
European journal of medical genetics 2006;49(1):71-7.
2005: Laurence Faivre; Pascale Saugier-Veber; Jean-Paul Pais de Barros; Bruno Verges; Bertrand Couret; Bernard Lorcerie; Christel Thauvin; Frédéric Charbonnier; Frédéric Huet; Philippe Gambert; Thierry Frebourg; Laurence Duvillard
Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.
European journal of human genetics : EJHG 2005;13(11):1186-91.
2005: Laurence Faivre; Marie-France Portnoï; Gerard Pals; Dominique Stoppa-Lyonnet; Martine Le Merrer; Christel Thauvin-Robinet; Frédéric Huet; Christopher G Mathew; Hans Joenje; Alain Verloes; Clarisse Baumann
Should chromosome breakage studies be performed in patients with VACTERL association?
American journal of medical genetics. Part A 2005;137(1):55-8.
2005: Jean-Vital De Monléon; C Crémillieux; S Perez-Martin; Frédéric Huet
[International adoption and cultural background].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12(6):721-2.
2005: Christel Thauvin-Robinet; Francine Mugneret; Patrick Callier; Mondher Chouchane; Emmanuel Garron; Eric Manceau; Nicole Laurent; Christine Durand; Annie Nivelon-Chevallier; Emmanuel Sapin; Frédéric Huet; Laurence Faivre
Unique survival in chrondrodysplasia-hermaphrodism syndrome.
American journal of medical genetics. Part A 2005;132A(3):335-7.
2004: Marianne Grimaldi; Béatrice Gouyon; Francis Michaut; Frédéric Huet; Jean-Bernard Gouyon
Severe respiratory syncytial virus bronchiolitis: epidemiologic variations associated with the initiation of palivizumab in severely premature infants with bronchopulmonary dysplasia.
The Pediatric infectious disease journal 2004;23(12):1081-5.
2004: Laurence Faivre; Thierry Rousseau; Nicole Laurent; Philippe Gosset; Damien Sanlaville; Christel Thauvin-Robinet; Véronica Cusin; Stéphanie Lionnais; Patrick Callier; Philippe Khau van Kien; Frédéric Huet; Catherine Turleau; Paul Sagot; Francine Mugneret
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
Prenatal diagnosis 2004;24(5):393-5.
2004: Christel Thauvin-Robinet; Laurence Faivre; Véronica Cusin; Philippe Khau van Kien; Patrick Callier; Keith L Parker; Marc Fellous; Joséphine Borgnon; Emmanuel Gounot; Frédéric Huet; Emmanuel Sapin; Francine Mugneret
Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.
American journal of medical genetics. Part A 2004;126A(3):303-7.
2004: Christel Thauvin-Robinet; Laurence Faivre; M L Barbier; L Chevret; J Bourgeois; J C Netter; M Grimaldi; David Geneviève; H Ogier de Baulny; Frédéric Huet; J M Saudubray; Jean-Bernard Gouyon
Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition.
Journal of inherited metabolic disease 2004;27(5):700-4.
2003: Joséphine Borgnon; C Ouillon-Villet; Frédéric Huet; Emmanuel Sapin
Gastric outlet obstruction by an antral mucosal diaphragm: a case of a congenital anomaly revealed by an acquired disease.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie 2003;13(5):327-9.
2003: Christel Thauvin-Robinet; Laurence Faivre; Patricia Lewin; Jean-Vital De Monléon; Catherine François; Frédéric Huet; Jean-François Couailler; Ana Belinda Campos-Xavier; Jacky Bonaventure; Martine Le Merrer
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
American journal of medical genetics. Part A 2003;119A(1):81-4.
2003: Jean-Vital De Monléon; M E Ferrier; M N Guérin; G Couillault; Frédéric Huet
[Post-adoption consultations].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2003;10 Suppl 1():240s-242s.
2001: Christel Thauvin-Robinet; Jean-Vital De Monléon; Annie Nivelon-Chevallier; A Petit; Frédéric Huet
Association of Marfan's syndrome and Turner's syndrome.
Journal of pediatric endocrinology & metabolism : JPEM 2001;14(9):1661-3.
2001: L Leblanc; Jean-Vital De Monléon; Valérie Faber; F Beer; Sophie Dalac; Eve Justrabo; D Lambert; Frédéric Huet
[Bullous cutaneous mastocytosis revealed by acute disease secondary to morphine administration].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8(5):512-5.
2000: Jean-Vital De Monléon; Anne Houzel; G Couillault; Frédéric Huet
[Vaccination, information and manipulation].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(12):1354-6.
2000: Jean-Vital De Monléon; B Laurent-Atthalin; Anne Houzel; Frédéric Huet
[Adopted children born in foreign countries: management in main French pediatric services].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(10):1127-8.
2000: Jean-Vital De Monléon; Frédéric Huet
[Usefulness of management of adopted children born in foreign countries].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(10):1039-40.
1999: Jean-Vital De Monléon; B Geneste; Frédéric Huet
[Precocious puberty in adopted children, a risk not to be forgotten].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1999;6(5):589-90.
1999: Isabelle Luquet; Bernardine Favre; N Nadal; N Madinier; Philippe Khau van Kien; Frédéric Huet; Annie Nivelon-Chevallier; Francine Mugneret
Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis.
Annales de génétique 1999;42(1):33-9.