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Pierre Maroteaux

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Marie Gonzales; Alain Verloes; Marie-Hélène Saint Frison; Chantal Perrotez; Odile Bourdet; Férechté Encha-Razavi; Nicole Joyé; Jean-Louis Taillemite; Roland Walbaum; Rudolf Pfeiffer; Pierre Maroteaux
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.
Laurence Faivre; Martine Le Merrer; Klaus Zerres; Mongi Ben Hariz; Déborah Scheffer; Ian D Young; Pierre Maroteaux; Arnold Munnich; Valérie Cormier-Daire
Clinical and genetic heterogeneity in Desbuquois dysplasia.
André Mégarbané; Pierre Maroteaux; Catherine Caillaud; Martine Le Merrer
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

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All Publications

2005: Marie Gonzales; Alain Verloes; Marie-Hélène Saint Frison; Chantal Perrotez; Odile Bourdet; Férechté Encha-Razavi; Nicole Joyé; Jean-Louis Taillemite; Roland Walbaum; Rudolf Pfeiffer; Pierre Maroteaux
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.
American journal of medical genetics. Part A 2005;136A(4):373-6.
2004: Laurence Faivre; Martine Le Merrer; Klaus Zerres; Mongi Ben Hariz; Déborah Scheffer; Ian D Young; Pierre Maroteaux; Arnold Munnich; Valérie Cormier-Daire
Clinical and genetic heterogeneity in Desbuquois dysplasia.
American journal of medical genetics. Part A 2004;128A(1):29-32.
2004: André Mégarbané; Pierre Maroteaux; Catherine Caillaud; Martine Le Merrer
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.
American journal of medical genetics. Part A 2004;125A(1):61-6.
2004: Anne Dieux-Coëslier; Alexandre Moerman; Muriel Holder; Odile Boute; Pierre Maroteaux; Sylvie Manouvrier; Martine Le Merrer
Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs.
American journal of medical genetics. Part A 2004;124A(1):60-6.
2004: Laurence Faivre; Valérie Cormier-Daire; Ian Young; Henri Bracq; Georges Finidori; Jean-Paul Padovani; Sylvie Odent; Ralph S Lachman; Arnold Munnich; Pierre Maroteaux; Martine Le Merrer
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.
American journal of medical genetics. Part A 2004;124A(1):54-9.
2004: Laurence Faivre; Valérie Cormier-Daire; Alison M Eliott; Fiona Field; Arnold Munnich; Pierre Maroteaux; Martine Le Merrer; Ralph S Lachman
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.
American journal of medical genetics. Part A 2004;124A(1):48-53.
2003: Martine Le Merrer; Valérie Cormier-Daire; Pierre Maroteaux
Re-evaluation of kyphomelic dysplasia.
American journal of medical genetics. Part A 2003;120A(2):289-91.
2003: Laurence Faivre; Martine Le Merrer; Lihadh Al-Gazali; Margreet G E M Ausems; P Bitoun; Delphine Bacq; Pierre Maroteaux; Arnold Munnich; Valérie Cormier-Daire
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
Journal of medical genetics 2003;40(4):282-4.
2003: Valérie Cormier-Daire; Anne-Lise Delezoide; N Philip; Pascale Marcorelles; K Casas; Y Hillion; Laurence Faivre; David L Rimoin; A Munnich; Pierre Maroteaux; Martine Le Merrer
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.
Journal of medical genetics 2003;40(3):195-200.
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: Alison M Elliott; Marie Gonzales; Jean-Claude Hoeffel; Martine Le Merrer; Pierre Maroteaux; Férechté Encha-Razavi; Nicole Joye; Colette Berchel; Christian Fliegel; David J Aughton; Kelly Beaudry-Rodgers; Farnez Hasteh; Andreas G Nerlich; William R Wilcox; David L Rimoin; Ralph S Lachman; Peter Freisinger
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
American journal of medical genetics 2002;109(2):139-48.
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.
1999: Sylvie Odent; Philippe Loget; B Le Marec; A L Delezoïde; Pierre Maroteaux
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.
Journal of medical genetics 1999;36(4):330-2.
1998: Valérie Cormier-Daire; A Munnich; Stanislas LYONNET; P Rustin; Anne-Lise Delezoide; Pierre Maroteaux; Martine Le Merrer
Presentation of six cases of Stüve-Wiedemann syndrome.
Pediatric radiology 1998;28(10):776-80.
1998: Valérie Cormier-Daire; andrea superti-furga; Arnold Munnich; Stanislas LYONNET; P Rustin; Anne-Lise Delezoide; P De Lonlay; Andres Giedion; Pierre Maroteaux; Martine Le Merrer
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
American journal of medical genetics 1998;78(2):146-9.
1997: A Loshkajian; Joelle Roume; V Stanescu; Anne-Lise Delezoide; F Stampf; Pierre Maroteaux
Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
American journal of medical genetics 1997;71(3):283-8.
1997: L Legeai-Mallet; A Munnich; Pierre Maroteaux; Martine Le Merrer
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses.
Clinical genetics 1997;52(1):12-6.
1997: L Legeai-Mallet; Patricia Margaritte-Jeannin; M Lemdani; Martine Le Merrer; H Plauchu; Pierre Maroteaux; Arnold Munnich; Françoise Clerget-Darpoux
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.
Human genetics 1997;99(3):298-302.
1996: Jacky Bonaventure; F Rousseau; Laurence Legeai-Mallet; Martine Le Merrer; Arnold Munnich; Pierre Maroteaux
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1996;417():33-8.
1996: F Rousseau; Jacky Bonaventure; Laurence Legeai-Mallet; H Schmidt; J Weissenbach; Pierre Maroteaux; Arnold Munnich; Martine Le Merrer
Clinical and genetic heterogeneity of hypochondroplasia.
Journal of medical genetics 1996;33(9):749-52.
1996: Jacky Bonaventure; F Rousseau; Laurence Legeai-Mallet; Martine Le Merrer; Arnold Munnich; Pierre Maroteaux
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
American journal of medical genetics 1996;63(1):148-54.
1996: Pierre Maroteaux; Sylvie MANOUVRIER; Jacky Bonaventure; Martine Le Merrer
Dyssegmental dysplasia with glaucoma.
American journal of medical genetics 1996;63(1):46-9.
1996: F Rousseau; Jacky Bonaventure; Laurence Legeai-Mallet; Anna Pelet; Jean-Michel Rozet; Pierre Maroteaux; Martine Le Merrer; Arnold Munnich
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Hormone research 1996;45(1-2):108-10.
1995: F Rousseau; P Saugier; Martine Le Merrer; Arnold Munnich; Anne-Lise Delezoide; Pierre Maroteaux; Jacky Bonaventure; F Narcy; M Sanak
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
Nature genetics 1995;10(1):11-2.
1994: Alain Verloes; F Narcy; B Grattagliano; Anne-Lise Delezoide; P Guibaud; Jean-Pierre Schaaps; Martine Le Merrer; Pierre Maroteaux
Osteocraniostenosis.
Journal of medical genetics 1994;31(10):772-8.
1994: F Rousseau; Jacky Bonaventure; Laurence Legeai-Mallet; Anna Pelet; Jean-Michel Rozet; Pierre Maroteaux; Martine Le Merrer; Arnold Munnich
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Nature 1994;371(6494):252-4.
1994: Martine Le Merrer; Laurence Legeai-Mallet; P M Jeannin; B Horsthemke; A Schinzel; H Plauchu; A Toutain; F Achard; Arnold Munnich; Pierre Maroteaux
A gene for hereditary multiple exostoses maps to chromosome 19p.
Human molecular genetics 1994;3(5):717-22.
1992: Martine Le Merrer; K Ben Othmane; V Stanescu; Stanislas LYONNET; L Van Maldergem; G Royer; Arnold Munnich; Pierre Maroteaux
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).
Journal of medical genetics 1992;29(10):713-5.