Pierre MAROTEAUX : rechercher sur Z-Library

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1

Apparent Apert syndrome with polydactyly: Rare pleiotropic manifestation or new syndrome?

Pierre Maroteaux, Marie Christine Fonfria, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 300 KB

english, 1987

2

Maladies de surcharge lysosomale : approache clinique

Pierre Maroteaux

Journal:

Revue Française des Laboratoires

Année:

1998

Fichier:

PDF, 352 KB

1998

3

Lipid composition of two types of chondrocytes in primary culture

Mady Le Lous, Marie-Thérèse Corvol, Pierre Maroteaux

Journal:

Calcified Tissue International

Année:

1981

Langue:

english

Fichier:

PDF, 412 KB

english, 1981

4

Toulouse–Lautrec's diagnosis

Maroteaux, Pierre

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 126 KB

1995

5

Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects

Fryns, Jean-Pierre, Lorenzetti, Maria-Elena, Maroteaux, Pierre, Van den Berghe, Herman

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 358 KB

1996

6

Dedication

Maroteaux, Pierre

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 60 KB

1996

7

Dyssegmental dysplasia with glaucoma

Maroteaux, Pierre, Manouvrier, Sylvie, Bonaventure, Jacky, Le Merrer, Martine

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 312 KB

1996

8

Familial blomstrand chondrodysplasia with advanced skeletal maturation: Further delineation

Loshkajian, Ara, Roume, Joelle, Stanescu, Victor, Delezoide, Anne-lise, Stampf, Françoise, Maroteaux, Pierre

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 1.54 MB

english, 1997

9

Bilateral poland anomaly versus thoracic dysplasia

Maroteaux, Pierre, Le Merrer, Martine

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 25 KB

english, 1998

10

Cerebro-osseous-digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu-Laxova syndrome

Alison M. Elliott, Marie Gonzales, Jean-Claude Hoeffel, Martine Le Merrer, Pierre Maroteaux, Ferechte Encha-Razavi, Nicole Joye, Colette Berchel, Christian Fliegel, David J. Aughton, Kelly Beaudry-Rod

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 530 KB

english, 2002

11

Brachymesomelia-renal syndrome

Dr. Leonard O. Langer Jr., Rikio Nishino, Atsuko Yamaguchi, Yoshimoto Ito, Tsuyoshi Ueke, Hajime Togari, Toshiyuki Kato, John M. Opitz, Enid F. Gilbert, Pierre Maroteaux, Jürgen Spranger

Journal:

American Journal of Medical Genetics Part A

Année:

1983

Langue:

english

Fichier:

PDF, 477 KB

english, 1983

12

Thanatophoric dysplasia of identical twins

Francoise Serville, Dominique Carles, Pierre Maroteaux, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 173 KB

english, 1984

13

Opsismodysplasia: A new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae

Dr. Pierre Maroteaux, Victor Stanescu, Ritta Stanescu, Bernard Le Marec, Claude Moraine, Horacio Lejarraga

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 880 KB

english, 1984

14

The differential symptomatology of errors of collagen metabolism: A tentative classification

Dr. Pierre Maroteaux, Jean Frézal, Lola Cohen-Solal, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 907 KB

english, 1986

15

Acromicric dysplasia

Pierre Maroteaux, Ritta Stanescu, Victor Stanescu, Raphaël Rappaport, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 1.34 MB

english, 1986

16

Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: Another observation

Dr. Peter Meinecke, Jürgen Spranger, Elke Schaefer, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 319 KB

english, 1989

17

A new lethal brittle bone syndrome with increased amount of type V collagen in a patient

Jacky Bonaventure, Louise Zylberberg, Lola Cohen-Solal, Jean-Claude Allain, Catherine Lasselin, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 1.62 MB

english, 1989

18

Homozygous achondroplasia: Morphologic and biochemical study of cartilage

Dr. Ritta Stanescu, Victor Stanescu, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 1.53 MB

english, 1990

19

Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course

Pierre Maroteaux, Alain Verloes, Victor Stanescu, Ritta Stanescu

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 769 KB

english, 1991

20

Type II collagen and noncollagenous protein screening in the human chondrodysplasias

Victor Stanescu, Ritta Stanescu, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 113 KB

english, 1991

21

Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus

Dr. Tsutomu Ogata, Peter Goodfellow, Christine Petit, Pierre Maroteaux, Nobutake Matsuo

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 862 KB

english, 1993

22

Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage

Dr. Ritta Stanescu, Victor Stanescu, Marie-Paule Muriel, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 1.95 MB

english, 1993

23

Non-collagenous protein screening in the human chondrodysplasias: Link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin

Dr. Victor Stanescu, Thuc Pham Do, Françoise Chaminade, Pierre Maroteaux, Ritta Stanescu

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 652 KB

english, 1994

24

Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4

Jean-Pierre Fryns, Eric Legius, Herman Van den Berghe, Philippe Moerman, Kamiel Vandenberghe, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 103 KB

english, 1994

25

Reply to Borochowitz et al

Dr. Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 34 KB

english, 1995

26

Re-evaluation of kyphomelic dysplasia

Martine Le Merrer, Valerie Cormier Daire, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 74 KB

english, 2003

27

Metaphyseal chondrodysplasia with cone-shaped epiphyses: A specific form involving the lower limbs

Anne Dieux-Coëslier, Alexandre Moerman, Muriel Holder, Odile Boute, Pierre Maroteaux, Sylvie Manouvrier, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 237 KB

english, 2004

28

Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: Radiographic manifestations

Laurence Faivre, Valérie Cormier-Daire, Alison M. Eliott, Fiona Field, Arnold Munnich, Pierre Maroteaux, Martine Le Merrer, Ralph Lachman

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 164 KB

english, 2004

29

Long-term outcome in desbuquois dysplasia: A follow-up in four adult patients

Laurence Faivre, Valérie Cormier-Daire, Ian Young, Henri Bracq, Georges Finidori, Jean Paul Padovani, Sylvie Odent, Ralph Lachman, Arnold Munnich, Pierre Maroteaux, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 250 KB

english, 2004

30

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): Report of a new patient and review of the literature

André Mégarbané, Pierre Maroteaux, Catherine Caillaud, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 286 KB

english, 2004

31

Clinical and genetic heterogeneity in Desbuquois dysplasia

Laurence Faivre, Martine Le Merrer, Klaus Zerres, Mongi Ben Hariz, Déborah Scheffer, Ian D. Young, Pierre Maroteaux, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 175 KB

english, 2004

32

Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

Marie Gonzales, Alain Verloes, Marie-Hélène Saint Frison, Chantal Perrotez, Odile Bourdet, Ferechte Encha-Razavi, Nicole Joyé, Jean-Louis Taillemite, Roland Walbaum, Rudolf Pfeiffer, Pierre Maroteaux

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 249 KB

english, 2005

33

Spondylometaphyseal dysplasia, east-African Type: A new form of early, severe SMD with rounded vertebrae

Alain Verloes, Philippe Lepage, Clarisse Baumann, Pierre Maroteaux, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 181 KB

english, 2002

34

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature

Christine Petit, Judith Melki, Jacqueline Levilliers, Françoise Serville, Jean Weissenbach, Pierre Maroteaux

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 783 KB

english, 1990

35

Dominant mutations in familial lethal and severe osteogenesis imperfecta

Lola Cohen-Solal, Jacky Bonaventure, Pierre Maroteaux

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 1.04 MB

english, 1991

36

A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta

Jacky Bonaventure, Lola Cohen-Solal, Catherine Lasselin, Pierre Maroteaux

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 728 KB

english, 1992

37

La metachondromatose

Pierre Maroteaux

Journal:

European Journal of Pediatrics

Année:

1971

Fichier:

PDF, 3.05 MB

1971

38

Normal lipid composition of fibroblasts from a case of type II achondrogenesis

Mady Le Lous, Marie-Claude Hors-Cayla, G. F. M. Hendrickx, Pierre Maroteaux

Journal:

European Journal of Pediatrics

Année:

1980

Langue:

english

Fichier:

PDF, 150 KB

english, 1980

39

Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type

M. C. d'Orey, Mário Mateus, Hercília Guimara˜es, Cristina Miguel, Maria J. Costeira, Rosete Nogueira, Nuno Montenegro, Norberto T. Santos, Pierre Maroteaux

Journal:

Pediatric Radiology

Année:

1997

Langue:

english

Fichier:

PDF, 567 KB

english, 1997

40

Presentation of six cases of Stüve-Wiedemann syndrome

Valérie Cormier-Daire, A. Munnich, Stanislas Lyonnet, Pierre Rustin, Anne-Lise Delezoide, Pierre Maroteaux, Martine Le Merrer

Journal:

Pediatric Radiology

Année:

1998

Langue:

english

Fichier:

PDF, 590 KB

english, 1998

41

Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia

Martine Le Merrer, Pierre Maroteaux

Journal:

Pediatric Radiology

Année:

1998

Langue:

english

Fichier:

PDF, 268 KB

english, 1998

42

An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses

Laurence Legeai-Mallet, Patricia Margaritte-Jeannin, Mohamed Lemdani, M. Le Merrer, Henry Plauchu, Pierre Maroteaux, A. Munnich, Françoise Clerget-Darpoux

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 82 KB

english, 1997

43

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses

Laurence Legeai-Mallet, Arnold Munnich, Pierre Maroteaux, Martine Le Merrer

Journal:

Clinical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 746 KB

english, 1997

44

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Rousseau, Francis, Bonaventure, Jacky, Legeai-Mallet, Laurence, Pelet, Anna, Rozet, Jean-Michel, Maroteaux, Pierre, Merrer, Martine Le, Munnich, Arnold

Journal:

Année:

1994

Fichier:

PDF, 494 KB

1994

45

Reply to “The question of heterogeneity in Marfan syndrome”

Boileau, Catherine, Junien, Claudine, Collod, Gwenaëlle, Jondeau, Guillaume, Dubourg, Olivier, Bourdarias, Jean-Pierre, Bonaïti-Pellié, Catherine, Frézal, Jean, Maroteaux, Pierre

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 222 KB

1995

46

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Rousseau, Francis, Saugier, Pascale, Merrer, Martine Le, Munnich, Arnold, Delezoide, Anne-Lise, Maroteaux, Pierre, Bonaventure, Jacky, Narcy, Françoise, Sanak, Marek

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 394 KB

1995

47

Abnormal Pattern of Segment Long Spacing (SLS) Cartilage Collagen in Diastrophic Dysplasia

Ritta Stanescu, Victor Stanescu, Pierre Maroteaux

Journal:

Collagen and Related Research

Année:

1982

Langue:

english

Fichier:

PDF, 1.33 MB

english, 1982

48

Metaphyseal acroscyphodysplasia

Alain Verloes, Martine Le Merrer, Jean-Pierre Farriaux, Pierre Maroteaux

Journal:

Clinical Genetics

Année:

1991

Langue:

english

Fichier:

PDF, 671 KB

english, 1991

49

Structure of Nine Sialyl-Oligosaccharides Accumulated in Urine of Eleven Patients with Three Different Types of Sialidosis : Mucolipidosis II and Two New Types of Mucolipidosis

Gérard STRECKER, Marie-Claire PEERS, Jean-Claude MICHALSKI, Théophile HONDI-ASSAH, Bernard FOURNET, Geneviève SPIK, Jean MONTREUIL, Jean-Pierre FARRIAUX, Pierre MAROTEAUX, Paolo DURAND

Journal:

Année:

1977

Langue:

english

Fichier:

PDF, 1.59 MB

english, 1977

50

GENETICS OF HEMOCHROMATOSIS

ROBERT DEBRÉ, JEAN-CLAUDE DREYFUS, JEAN FRÉZAL, DOMINIQUE LABIE, MAURICE LAMY, PIERRE MAROTEAUX, FANNY SCHAPIRA, GEORGES SCHAPIRA

Journal:

Annals of Human Genetics

Année:

1958

Langue:

english

Fichier:

PDF, 815 KB

english, 1958