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Jean-Louis Mandel

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Anatomy

X Chromosome

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Chemicals & Drugs

Physiology

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Amino Acid Sequence

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Cossée Mireille; Lagier-Tourenne Clotilde; Seguela Claire; Mohr Michel; Leturcq France; Gundesli Hulya; Chelly Jamel; Tranchant Christine; Koenig Michel; Mandel Jean-Louis
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.
Marion Vincent; Stoetzel Corinne; Schlicht Dominique; Messaddeq Nadia; Koch Michael; Flori Elisabeth; Danse Jean Marc; Mandel Jean-Louis; Dollfus Hélène
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
Didiot Marie-Cécile; Subramanian Murugan; Flatter Eric; Mandel Jean-Louis; Moine Hervé
Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly.

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All Publications

2009: Cossée Mireille; Lagier-Tourenne Clotilde; Seguela Claire; Mohr Michel; Leturcq France; Gundesli Hulya; Chelly Jamel; Tranchant Christine; Koenig Michel; Mandel Jean-Louis
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.
Neuromuscular disorders : NMD 2009;19(4):255-60.
2009: Marion Vincent; Stoetzel Corinne; Schlicht Dominique; Messaddeq Nadia; Koch Michael; Flori Elisabeth; Danse Jean Marc; Mandel Jean-Louis; Dollfus Hélène
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(6):1820-5.
2009: Didiot Marie-Cécile; Subramanian Murugan; Flatter Eric; Mandel Jean-Louis; Moine Hervé
Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly.
Molecular biology of the cell 2009;20(1):428-37.
2008: Buj-Bello Anna; Fougerousse Françoise; Schwab Yannick; Messaddeq Nadia; Spehner Danièle; Pierson Christopher R; Durand Muriel; Kretz Christine; Danos Olivier; Douar Anne-Marie; Beggs Alan H; Schultz Patrick; Montus Marie; Denèfle Patrice; Mandel Jean-Louis
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Human molecular genetics 2008;17(14):2132-43.
2008: Laugel Vincent; Cossée Mireille; Matis Jacqueline; de Saint-Martin Anne; Echaniz-Laguna Andoni; Mandel Jean-Louis; Astruc Dominique; Fischbach Michel; Messer Jean
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates.
European journal of pediatrics 2008;167(5):517-23.
2008: Lagier-Tourenne Clotilde; Tazir Meriem; López Luis Carlos; Quinzii Catarina M; Assoum Mirna; Drouot Nathalie; Busso Cleverson; Makri Samira; Ali-Pacha Lamia; Benhassine Traki; Anheim Mathieu; Lynch David R; Thibault Christelle; Plewniak Frédéric; Bianchetti Laurent; Tranchant Christine; Poch Olivier; DiMauro Salvatore; Mandel Jean-Louis; Barros Mario H; Hirano Michio; Koenig Michel
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
American journal of human genetics 2008;82(3):661-72.
2007: Echaniz-Laguna Andoni; Nicot Anne-Sophie; Carré Sophie; Franques Jérôme; Tranchant Christine; Dondaine Nicolas; Biancalana Valérie; Mandel Jean-Louis; Laporte Jocelyn
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
Neuromuscular disorders : NMD 2007;17(11-12):955-9.
2007: Nicot Anne-Sophie; Toussaint Anne; Tosch Valérie; Kretz Christine; Wallgren-Pettersson Carina; Iwarsson Erik; Kingston Helen; Garnier Jean-Marie; Biancalana Valérie; Oldfors Anders; Mandel Jean-Louis; Laporte Jocelyn
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nature genetics 2007;39(9):1134-9.
2007: Klein Fabrice A C; Pastore Annalisa; Masino Laura; Zeder-Lutz Gabrielle; Nierengarten Hélène; Oulad-Abdelghani Mustapha; Altschuh Danièle; Mandel Jean-Louis; Trottier Yvon
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient.
Journal of molecular biology 2007;371(1):235-44.
2007: Stoetzel Corinne; Muller Jean; Laurier Virginie; Davis Erica E; Zaghloul Norann A; Vicaire Serge; Jacquelin Cecile; Plewniak Frederic; Leitch Carmen C; Sarda Pierre; Hamel Christian; de Ravel Thomy J L; Lewis Richard Alan; Friederich Evelyne; Thibault Christelle; Danse Jean-Marc; Verloes Alain; Bonneau Dominique; Katsanis Nicholas; Poch Olivier; Mandel Jean-Louis; Dollfus Helene
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
American journal of human genetics 2007;80(1):1-11.
2006: Dollfus Hélène; Muller Jean; Stoetzel Corinne; Laurier Virginie; Bonneau Dominique; Mégarbané André; Poch Olivier; Mandel Jean-Louis
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]
Médecine sciences : M/S 2006;22(11):901-4.
2006: Tosch Valérie; Rohde Holger M; Tronchère Hélène; Zanoteli Edmar; Monroy Nancy; Kretz Christine; Dondaine Nicolas; Payrastre Bernard; Mandel Jean-Louis; Laporte Jocelyn
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
Human molecular genetics 2006;15(21):3098-106.
2006: Laurier Virginie; Stoetzel Corinne; Muller Jean; Thibault Christelle; Corbani Sandra; Jalkh Nadine; Salem Nabiha; Chouery Eliane; Poch Olivier; Licaire Serge; Danse Jean-Marc; Amati-Bonneau Patricia; Bonneau Dominique; Mégarbané André; Mandel Jean-Louis; Dollfus Hélène
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
European journal of human genetics : EJHG 2006;14(11):1195-203.
2006: Cossée Mireille; Demeer Bénédicte; Blanchet Patricia; Echenne Bernard; Singh Deepika; Hagens Olivier; Antin Manuela; Finck Sonja; Vallee Louis; Dollfus Hélène; Hegde Sridevi; Springell Kelly; Thelma B K; Woods Geoffrey; Kalscheuer Vera; Mandel Jean-Louis
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
European journal of human genetics : EJHG 2006;14(4):418-25.
2006: Schlüter Agatha; Fourcade Stéphane; Ripp Raymond; Mandel Jean Louis; Poch Olivier; Pujol Aurora
The evolutionary origin of peroxisomes: an ER-peroxisome connection.
Molecular biology and evolution 2006;23(4):838-45.
2006: Abou-Sleymane Gretta; Chalmel Frédéric; Helmlinger Dominique; Lardenois Aurélie; Thibault Christelle; Weber Chantal; Mérienne Karine; Mandel Jean-Louis; Poch Olivier; Devys Didier; Trottier Yvon
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.
Human molecular genetics 2006;15(5):691-703.
2006: Stoetzel Corinne; Laurier Virginie; Faivre Laurence; Mégarbané André; Perrin-Schmitt Fabienne; Verloes Alain; Bonneau Dominique; Mandel Jean-Louis; Cossee Mireille; Dollfus Hélène
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Journal of human genetics 2006;51(1):81-4.
2005: Ferrer Isidre; Kapfhammer Josef P; Hindelang Colette; Kemp Stephan; Troffer-Charlier Nathalie; Broccoli Vania; Callyzot Noëlle; Mooyer Petra; Selhorst Jacqueline; Vreken Peter; Wanders Ronald J A; Mandel Jean Louis; Pujol Aurora
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.
Human molecular genetics 2005;14(23):3565-77.
2005: Biancalana Valérie; Toft Mathias; Le Ber Isabelle; Tison François; Scherrer Elisabeth; Thibodeau Stephen; Mandel Jean Louis; Brice Alexis; Farrer Matthew J; Dürr Alexandra
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.
Archives of neurology 2005;62(6):962-6.
2005: Hichri Haifa; Stoetzel Corinne; Laurier Virginie; Caron Solenne; Sigaudy Sabine; Sarda Pierre; Hamel Christian; Martin-Coignard Dominique; Gilles Morin; Leheup Bruno; Holder Mureille; Kaplan Josseline; Bitoun Pierre; Lacombe Didier; Verloes Alain; Bonneau Dominique; Perrin-Schmitt Fabienne; Brandt Christian; Besancon Anne-Françoise; Mandel Jean-Louis; Cossée Mireille; Dollfus Hélène
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
European journal of human genetics : EJHG 2005;13(5):607-16.
2005: Zanoteli Edmar; Laporte Jocelyn; Rocha José C C; Kretz Christine; Oliveira Acary S B; Mandel Jean-Louis; Perez Ana B A; Gabbai Alberto A; Buj-Bello Anna
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.
American journal of medical genetics. Part A 2005;134(3):338-40.
2005: Castets Marie; Schaeffer Céline; Bechara Elias; Schenck Annette; Khandjian Edward W; Luche Sylvie; Moine Hervé; Rabilloud Thierry; Mandel Jean-Louis; Bardoni Barbara
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.
Human molecular genetics 2005;14(6):835-44.
2005: Dollfus H; Verloes A; Bonneau D; Cossée M; Perrin-Schmitt F; Brandt C; Flament J; Mandel J-L
[Update on Bardet-Biedl syndrome]
Journal français d'ophtalmologie 2005;28(1):106-12.
2004: Helmlinger Dominique; Bonnet Jacques; Mandel Jean-Louis; Trottier Yvon; Devys Didier
Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.
The Journal of biological chemistry 2004;279(53):55969-77.
2004: Pujol Aurora; Ferrer Isidre; Camps Carme; Metzger Elisabeth; Hindelang Colette; Callizot Noëlle; Ruiz Montse; Pàmpols Teresa; Giròs Marisa; Mandel Jean Louis
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.
Human molecular genetics 2004;13(23):2997-3006.
2004: Schenck Annette; Qurashi Abrar; Carrera Pilar; Bardoni Barbara; Diebold Céline; Schejter Eyal; Mandel Jean-Louis; Giangrande Angela
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity.
Developmental biology 2004;274(2):260-70.
2004: Biancalana Valérie; Beldjord Chérif; Taillandier Agnès; Szpiro-Tapia Sylvie; Cusin Véronica; Gerson Fabienne; Philippe Christophe; Mandel Jean-Louis
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.
American journal of medical genetics. Part A 2004;129A(3):218-24.
2004: Mandel Jean-Louis; Chelly Jamel
Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
European journal of human genetics : EJHG 2004;12(9):689-93.
2004: Mandel J L; Biancalana V
Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2004;14 Suppl A():S158-65.
2004: Helmlinger Dominique; Hardy Sara; Sasorith Souphatta; Klein Fabrice; Robert Flavie; Weber Chantal; Miguet Laurent; Potier Noëlle; Van-Dorsselaer Alain; Wurtz Jean-Marie; Mandel Jean-Louis; Tora Làszlò; Devys Didier
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.
Human molecular genetics 2004;13(12):1257-65.
2004: Flori Elisabeth; Biancalana Valérie; Girard-Lemaire Françoise; Favre Romain; Flori Jean; Doray Bérénice; Mandel Jean Louis
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
European journal of human genetics : EJHG 2004;12(3):181-6.
2004: Helmlinger Dominique; Abou-Sleymane Gretta; Yvert Gaël; Rousseau Stéphane; Weber Chantal; Trottier Yvon; Mandel Jean-Louis; Devys Didier
Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(8):1881-7.
2004: Tronchère Hélène; Laporte Jocelyn; Pendaries Caroline; Chaussade Claire; Liaubet Laurence; Pirola Luciano; Mandel Jean-Louis; Payrastre Bernard
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.
The Journal of biological chemistry 2004;279(8):7304-12.
2003: Tronchère H; Buj-Bello A; Mandel J-L; Payrastre B
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.
Cellular and molecular life sciences : CMLS 2003;60(10):2084-99.
2003: Adinolfi S; Ramos A; Martin S R; Dal Piaz F; Pucci P; Bardoni B; Mandel J L; Pastore A
The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.
Biochemistry 2003;42(35):10437-44.
2003: Bardoni Barbara; Willemsen Rob; Weiler Ivan Jeanne; Schenck Annette; Severijnen Lies-Anne; Hindelang Colette; Lalli Enzo; Mandel Jean-Louis
NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes.
Experimental cell research 2003;289(1):95-107.
2003: Bardoni Barbara; Castets Marie; Huot Marc-Etienne; Schenck Annette; Adinolfi Salvatore; Corbin François; Pastore Annalisa; Khandjian Edouard W; Mandel Jean-Louis
82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization.
Human molecular genetics 2003;12(14):1689-98.
2003: Schenck Annette; Bardoni Barbara; Langmann Caillin; Harden Nicholas; Mandel Jean Louis; Giangrande Angela
CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.
Neuron 2003;38(6):887-98.
2003: Nolin Sarah L; Brown W Ted; Glicksman Anne; Houck George E; Gargano Alice D; Sullivan Amy; Biancalana Valérie; Bröndum-Nielsen Karen; Hjalgrim Helle; Holinski-Feder Elke; Kooy Frank; Longshore John; Macpherson James; Mandel Jean-Louis; Matthijs Gert; Rousseau Francois; Steinbach Peter; Väisänen Marja-Leena; von Koskull Harriet; Sherman Stephanie L
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
American journal of human genetics 2003;72(2):454-64.
2003: Biancalana Valérie; Caron Olivier; Gallati Sabina; Baas Frank; Kress Wolfram; Novelli Giuseppe; D'Apice Maria Rosaria; Lagier-Tourenne Clotilde; Buj-Bello Anna; Romero Norma B; Mandel Jean-Louis
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
Human genetics 2003;112(2):135-42.
2002: Helmlinger Dominique; Yvert Gaël; Picaud Serge; Merienne Karine; Sahel José; Mandel Jean-Louis; Devys Didier
Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice.
Human molecular genetics 2002;11(26):3351-9.
2002: Lagier-Tourenne C; Chaigne D; Gong J; Flori J; Mohr M; Ruh D; Christmann D; Flament J; Mandel J-L; Koenig M; Dollfus H
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.
Journal of medical genetics 2002;39(11):838-43.
2002: Buj-Bello Anna; Laugel Vincent; Messaddeq Nadia; Zahreddine Hala; Laporte Jocelyn; Pellissier Jean-Francois; Mandel Jean-Louis
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(23):15060-5.
2002: Buj-Bello Anna; Furling Denis; Tronchère Hélène; Laporte Jocelyn; Lerouge Thierry; Butler-Browne Gillian S; Mandel Jean-Louis
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
Human molecular genetics 2002;11(19):2297-307.
2002: Lunkes Astrid; Lindenberg Katrin S; Ben-Haïem Léa; Weber Chantal; Devys Didier; Landwehrmeyer G Bernhard; Mandel Jean-Louis; Trottier Yvon
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions.
Molecular cell 2002;10(2):259-69.
2002: Laporte Jocelyn; Blondeau Francois; Gansmuller Anne; Lutz Yves; Vonesch Jean-Luc; Mandel Jean-Louis
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.
Journal of cell science 2002;115(Pt 15):3105-17.
2002: Bardoni Barbara; Mandel Jean-Louis
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.
Current opinion in genetics & development 2002;12(3):284-93.
2002: Pujol Aurora; Hindelang Colette; Callizot Noëlle; Bartsch Udo; Schachner Melitta; Mandel Jean Louis
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy.
Human molecular genetics 2002;11(5):499-505.
2002: Laporte Jocelyn; Liaubet Laurence; Blondeau François; Tronchère Hélène; Mandel Jean-Louis; Payrastre Bernard
Functional redundancy in the myotubularin family.
Biochemical and biophysical research communications 2002;291(2):305-12.
2001: Moine H; Mandel J L
Biomedicine. Do G quartets orchestrate fragile X pathology?
Science (New York, N.Y.) 2001;294(5551):2487-8.
2001: Bardoni B; Schenck A; Mandel J L
The Fragile X mental retardation protein.
Brain research bulletin 2001;56(3-4):375-82.
2001: Schaeffer C; Bardoni B; Mandel J L; Ehresmann B; Ehresmann C; Moine H
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif.
The EMBO journal 2001;20(17):4803-13.
2001: Yvert G; Lindenberg K S; Devys D; Helmlinger D; Landwehrmeyer G B; Mandel J L
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types.
Human molecular genetics 2001;10(16):1679-92.
2001: Laporte J; Kress W; Mandel J L
Diagnosis of X-linked myotubular myopathy by detection of myotubularin.
Annals of neurology 2001;50(1):42-6.
2001: Schenck A; Bardoni B; Moro A; Bagni C; Mandel J L
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(15):8844-9.
2001: Vincent M C; Biancalana V; Ginisty D; Mandel J L; Calvas P
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
European journal of human genetics : EJHG 2001;9(5):355-63.
2001: Laporte J; Blondeau F; Buj-Bello A; Mandel J L
The myotubularin family: from genetic disease to phosphoinositide metabolism.
Trends in genetics : TIG 2001;17(4):221-8.
2001: Devys D; Yvert G; Lunkes A; Trottier Y; Mandel J L
Pathological mechanisms in polyglutamine expansion diseases.
Advances in experimental medicine and biology 2001;487():199-210.
2000: Guiraud-Chaumeil C; Laporte J; Mandel J L; Warter J M
[Myotubular myopathy]
Revue neurologique 2000;156(11):960-4.
2000: Pujol A; Troffer-Charlier N; Metzger E; Chimini G; Mandel J L
Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin.
Genomics 2000;70(1):131-9.
2000: Yvert G; Lindenberg K S; Picaud S; Landwehrmeyer G B; Sahel J A; Mandel J L
Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice.
Human molecular genetics 2000;9(17):2491-506.
2000: Blondeau F; Laporte J; Bodin S; Superti-Furga G; Payrastre B; Mandel J L
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
Human molecular genetics 2000;9(15):2223-9.
2000: Bardoni B; Giglio S; Schenck A; Rocchi M; Mandel J L
Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.
Cytogenetics and cell genetics 2000;89(1-2):11-3.
2000: Laporte J; Biancalana V; Tanner S M; Kress W; Schneider V; Wallgren-Pettersson C; Herger F; Buj-Bello A; Blondeau F; Liechti-Gallati S; Mandel J L
MTM1 mutations in X-linked myotubular myopathy.
Human mutation 2000;15(5):393-409.
1999: Bardoni B; Schenck A; Mandel J L
A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein.
Human molecular genetics 1999;8(13):2557-66.
1999: Lunkes A; Trottier Y; Fagart J; Schultz P; Zeder-Lutz G; Moras D; Mandel J L
Properties of polyglutamine expansion in vitro and in a cellular model for Huntington's disease.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1999;354(1386):1013-9.
1999: Merienne K; Jacquot S; Pannetier S; Zeniou M; Bankier A; Gecz J; Mandel J L; Mulley J; Sassone-Corsi P; Hanauer A
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.
Nature genetics 1999;22(1):13-4.
1999: Cossée M; Dürr A; Schmitt M; Dahl N; Trouillas P; Allinson P; Kostrzewa M; Nivelon-Chevallier A; Gustavson K H; Kohlschütter A; Müller U; Mandel J L; Brice A; Koenig M; Cavalcanti F; Tammaro A; De Michele G; Filla A; Cocozza S; Labuda M; Montermini L; Poirier J; Pandolfo M
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Annals of neurology 1999;45(2):200-6.
1999: Buj-Bello A; Biancalana V; Moutou C; Laporte J; Mandel J L
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Human mutation 1999;14(4):320-5.
1998: Jacquot S; Merienne K; De Cesare D; Pannetier S; Mandel J L; Sassone-Corsi P; Hanauer A
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
American journal of human genetics 1998;63(6):1631-40.
1998: Trottier Y; Cancel G; An-Gourfinkel I; Lutz Y; Weber C; Brice A; Hirsch E; Mandel J L
Heterogeneous intracellular localization and expression of ataxin-3.
Neurobiology of disease 1998;5(5):335-47.
1998: Broccardo C; Troffer-Charlier N; Savary S; Mandel J L; Chimini G
Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).
European journal of human genetics : EJHG 1998;6(6):638-41.
1998: Laporte J; Blondeau F; Buj-Bello A; Tentler D; Kretz C; Dahl N; Mandel J L
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
Human molecular genetics 1998;7(11):1703-12.
1998: Lunkes A; Mandel J L
A cellular model that recapitulates major pathogenic steps of Huntington's disease.
Human molecular genetics 1998;7(9):1355-61.
1998: Laporte J; Guiraud-Chaumeil C; Tanner S M; Blondeau F; Hu L J; Vicaire S; Liechti-Gallati S; Mandel J L
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.
European journal of human genetics : EJHG 1998;6(4):325-30.
1998: Troffer-Charlier N; Doerflinger N; Metzger E; Fouquet F; Mandel J L; Aubourg P
Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines.
European journal of cell biology 1998;75(3):254-64.
1998: Vincent M C; Guiraud-Chaumeil C; Laporte J; Manouvrier-Hanu S; Mandel J L
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
Journal of medical genetics 1998;35(3):241-3.
1998: Cavalier L; Ouahchi K; Kayden H J; Di Donato S; Reutenauer L; Mandel J L; Koenig M
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.
American journal of human genetics 1998;62(2):301-10.
1998: Lunkes A; Trottier Y; Mandel J L
Pathological mechanisms in Huntington's disease and other polyglutamine expansion diseases.
Essays in biochemistry 1998;33():149-63.
1997: Toti F; Schindler V; Riou J F; Lombard-Platet G; Fressinaud E; Meyer D; Uzan A; Le Pecq J B; Mandel J L; Freyssinet J M
Another link between phospholipid transmembrane migration and ABC transporter gene family, inferred from a rare inherited disorder of phosphatidylserine externalization.
Biochemical and biophysical research communications 1997;241(2):548-52.
1997: Gourfinkel-An I; Cancel G; Trottier Y; Devys D; Tora L; Lutz Y; Imbert G; Saudou F; Stevanin G; Agid Y; Brice A; Mandel J L; Hirsch E C
Differential distribution of the normal and mutated forms of huntingtin in the human brain.
Annals of neurology 1997;42(5):712-9.
1997: Lunkes A; Mandel J L
Polyglutamines, nuclear inclusions and neurodegeneration.
Nature medicine 1997;3(11):1201-2.
1997: Koenig M; Mandel J L
Deciphering the cause of Friedreich ataxia.
Current opinion in neurobiology 1997;7(5):689-94.
1997: Campuzano V; Montermini L; Lutz Y; Cova L; Hindelang C; Jiralerspong S; Trottier Y; Kish S J; Faucheux B; Trouillas P; Authier F J; Dürr A; Mandel J L; Vescovi A; Pandolfo M; Koenig M
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Human molecular genetics 1997;6(11):1771-80.
1997: Laporte J; Guiraud-Chaumeil C; Vincent M C; Mandel J L; Tanner S M; Liechti-Gallati S; Wallgren-Pettersson C; Dahl N; Kress W; Bolhuis P A; Fardeau M; Samson F; Bertini E
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.
Human molecular genetics 1997;6(9):1505-11.
1997: David G; Abbas N; Stevanin G; Dürr A; Yvert G; Cancel G; Weber C; Imbert G; Saudou F; Antoniou E; Drabkin H; Gemmill R; Giunti P; Benomar A; Wood N; Ruberg M; Agid Y; Mandel J L; Brice A
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Nature genetics 1997;17(1):65-70.
1997: Moutou C; Vincent M C; Biancalana V; Mandel J L
Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic.
Human molecular genetics 1997;6(7):971-9.
1997: Cossée M; Schmitt M; Campuzano V; Reutenauer L; Moutou C; Mandel J L; Koenig M
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(14):7452-7.
1997: Guiraud-Chaumeil C; Vincent M C; Laporte J; Fardeau M; Samson F; Mandel J L
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.
American journal of human genetics 1997;60(6):1542-4.
1997: Laporte J; Kioschis P; Hu L J; Kretz C; Carlsson B; Poustka A; Mandel J L; Dahl N
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
Genomics 1997;41(3):458-62.
1997: Cancel G; Dürr A; Didierjean O; Imbert G; Bürk K; Lezin A; Belal S; Benomar A; Abada-Bendib M; Vial C; Guimarães J; Chneiweiss H; Stevanin G; Yvert G; Abbas N; Saudou F; Lebre A S; Yahyaoui M; Hentati F; Vernant J C; Klockgether T; Mandel J L; Agid Y; Brice A
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
Human molecular genetics 1997;6(5):709-15.
1997: Cossée M; Campuzano V; Koutnikova H; Fischbeck K; Mandel J L; Koenig M; Bidichandani S I; Patel P I; Moltè M D; Cañizares J; De Frutos R; Pianese L; Cavalcanti F; Monticelli A; Cocozza S; Montermini L; Pandolfo M
Frataxin fracas.
Nature genetics 1997;15(4):337-8.
1997: Cossée M; Moutou C; Biancalana V; Bouix J C; Plessis G; Delobel B; Croquette M F; Gilgenkrantz S; Lambert J C; Malpuech G; Stoll C; Lanoe J L; Pechevis M; Mandel J L
[Fragile X syndrome is still unrecognized: efficacy of molecular diagnosis in mentally retarded probands]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1997;4(3):227-36.
1997: Bardoni B; Sittler A; Shen Y; Mandel J L
Analysis of domains affecting intracellular localization of the FMRP protein.
Neurobiology of disease 1997;4(5):329-36.
1996: Aubourg P; Mandel J L
X-linked adrenoleukodystrophy.
Annals of the New York Academy of Sciences 1996;804():461-76.
1996: Stevanin G; Trottier Y; Cancel G; Dürr A; David G; Didierjean O; Bürk K; Imbert G; Saudou F; Abada-Bendib M; Gourfinkel-An I; Benomar A; Abbas N; Klockgether T; Grid D; Agid Y; Mandel J L; Brice A
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.
Human molecular genetics 1996;5(12):1887-92.
1996: Trivier E; De Cesare D; Jacquot S; Pannetier S; Zackai E; Young I; Mandel J L; Sassone-Corsi P; Hanauer A
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.
Nature 1996;384(6609):567-70.
1996: Imbert G; Saudou F; Yvert G; Devys D; Trottier Y; Garnier J M; Weber C; Mandel J L; Cancel G; Abbas N; Dürr A; Didierjean O; Stevanin G; Agid Y; Brice A
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Nature genetics 1996;14(3):285-91.
1996: Dürr A; Cossee M; Agid Y; Campuzano V; Mignard C; Penet C; Mandel J L; Brice A; Koenig M
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
The New England journal of medicine 1996;335(16):1169-75.
1996: Hu L J; Laporte J; Kioschis P; Heyberger S; Kretz C; Poustka A; Mandel J L; Dahi N
X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers.
Human genetics 1996;98(2):178-81.
1996: Feigenbaum V; Lombard-Platet G; Guidoux S; Sarde C O; Mandel J L; Aubourg P
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
American journal of human genetics 1996;58(6):1135-44.
1996: Laporte J; Hu L J; Kretz C; Mandel J L; Kioschis P; Coy J F; Klauck S M; Poustka A; Dahl N
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
Nature genetics 1996;13(2):175-82.
1996: Campuzano V; Montermini L; Moltò M D; Pianese L; Cossée M; Cavalcanti F; Monros E; Rodius F; Duclos F; Monticelli A; Zara F; Cañizares J; Koutnikova H; Bidichandani S I; Gellera C; Brice A; Trouillas P; De Michele G; Filla A; De Frutos R; Palau F; Patel P I; Di Donato S; Mandel J L; Cocozza S; Koenig M; Pandolfo M
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science (New York, N.Y.) 1996;271(5254):1423-7.
1996: Lombard-Platet G; Savary S; Sarde C O; Mandel J L; Chimini G
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(3):1265-9.
1996: Hu L J; Laporte J; Kress W; Kioschis P; Siebenhaar R; Poustka A; Fardeau M; Metzenberg A; Janssen E A; Thomas N; Mandel J L; Dahl N
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
Human molecular genetics 1996;5(1):139-43.
1996: Sittler A; Devys D; Weber C; Mandel J L
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms.
Human molecular genetics 1996;5(1):95-102.
1996: Saudou F; Devys D; Trottier Y; Imbert G; Stoeckel M E; Brice A; Mandel J L
Polyglutamine expansions and neurodegenerative diseases.
Cold Spring Harbor symposia on quantitative biology 1996;61():639-47.
1996: Mandel J L; Biancalana V; Cossée M; Devys D; Moutou C
[Mental retardation in fragile X syndrome]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1996;3 Suppl 1():349s-350s.
1995: Nadal N; Rolland M O; Tranchant C; Reutenauer L; Gyapay G; Warter J M; Mandel J L; Koenig M
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.
Human molecular genetics 1995;4(10):1963-6.
1995: Trottier Y; Devys D; Imbert G; Saudou F; An I; Lutz Y; Weber C; Agid Y; Hirsch E C; Mandel J L
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.
Nature genetics 1995;10(1):104-10.
1995: Khandjian E W; Fortin A; Thibodeau A; Tremblay S; Côté F; Devys D; Mandel J L; Rousseau F
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture.
Human molecular genetics 1995;4(5):783-9.
1995: Cartier N; Lopez J; Moullier P; Rocchiccioli F; Rolland M O; Jorge P; Mosser J; Mandel J L; Bougnères P F; Danos O
Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(5):1674-8.
1995: Ouahchi K; Arita M; Kayden H; Hentati F; Ben Hamida M; Sokol R; Arai H; Inoue K; Mandel J L; Koenig M
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
Nature genetics 1995;9(2):141-5.
1994: Sarde C O; Thomas J; Sadoulet H; Garnier J M; Mandel J L
cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1994;5(12):810-3.
1994: Dahl N; Samson F; Thomas N S; Hu L J; Gong W; Herman G; Laporte J; Kioschis P; Poustka A; Mandel J L
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
Journal of medical genetics 1994;31(12):922-4.
1994: Fanen P; Guidoux S; Sarde C O; Mandel J L; Goossens M; Aubourg P
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
The Journal of clinical investigation 1994;94(2):516-20.
1994: Sarde C O; Mosser J; Kioschis P; Kretz C; Vicaire S; Aubourg P; Poustka A; Mandel J L
Genomic organization of the adrenoleukodystrophy gene.
Genomics 1994;22(1):13-20.
1994: Hu L J; Blumenfeld-Heyberger S; Hanauer A; Weissenbach J; Mandel J L
Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited.
American journal of medical genetics 1994;51(4):569-74.
1994: Trottier Y; Imbert G; Poustka A; Fryns J P; Mandel J L
Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.
American journal of medical genetics 1994;51(4):454-7.
1994: Mosser J; Sarde C O; Vicaire S; Yates J R; Mandel J L
A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene.
Genomics 1994;22(2):469-71.
1994: Mandel J L
Towards identification of X-linked mental retardation genes: a proposal.
American journal of medical genetics 1994;51(4):550-2.
1994: Imbert G; Trottier Y; Beckmann J; Mandel J L
The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.
Genomics 1994;21(3):667-8.
1994: Duclos F; Rodius F; Wrogemann K; Mandel J L; Koenig M
The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.
Human molecular genetics 1994;3(6):909-14.
1994: Richards R I; Holman K; Friend K; Staples A; Sutherland G R; Oudet C; Biancalana V; Mandel J L
FRAXAC2 instability.
Nature genetics 1994;7(2):122; author reply 123.
1994: Contreras M; Mosser J; Mandel J L; Aubourg P; Singh I
The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein.
FEBS letters 1994;344(2-3):211-5.
1994: Chery M; Biancalana V; Philippe C; Malpuech G; Carla H; Gilgenkrantz S; Mandel J L; Hanauer A
Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.
Human genetics 1994;93(5):587-91.
1994: Mosser J; Lutz Y; Stoeckel M E; Sarde C O; Kretz C; Douar A M; Lopez J; Aubourg P; Mandel J L
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
Human molecular genetics 1994;3(2):265-71.
1994: Sirugo G; Duclos F; Fujita R; Keats J B; Pandolfo M; Mandel J L; Koenig M
Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(5-6):219-24.
1994: Douar A M; Mosser J; Sarde C O; Lopez J; Mandel J L; Aubourg P
X-linked adrenoleukodystrophy gene: identification of a candidate gene by positional cloning.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(5-6):215-8.
1993: Trottier Y; Devys D; Mandel J L
An expanding story.
Current biology : CB 1993;3(11):783-6.
1993: Ben Hamida M; Belal S; Sirugo G; Ben Hamida C; Panayides K; Ionannou P; Beckmann J; Mandel J L; Hentati F; Koenig M
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.
Neurology 1993;43(11):2179-83.
1993: Cartier N; Sarde C O; Douar A M; Mosser J; Mandel J L; Aubourg P
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
Human molecular genetics 1993;2(11):1949-51.
1993: Devys D; Lutz Y; Rouyer N; Bellocq J P; Mandel J L
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.
Nature genetics 1993;4(4):335-40.
1993: Imbert G; Kretz C; Johnson K; Mandel J L
Origin of the expansion mutation in myotonic dystrophy.
Nature genetics 1993;4(1):72-6.
1993: Mosser J; Douar A M; Sarde C O; Kioschis P; Feil R; Moser H; Poustka A M; Mandel J L; Aubourg P
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
Nature 1993;361(6414):726-30.
1993: Duclos F; Boschert U; Sirugo G; Mandel J L; Hen R; Koenig M
Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(1):109-13.
1993: Aubourg P; Mosser J; Douar A M; Sarde C O; Lopez J; Mandel J L
Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.
Biochimie 1993;75(3-4):293-302.
1993: Wrogemann K; Biancalana V; Devys D; Imbert G; Trottier Y; Mandel J L
Microsatellites and disease: a new paradigm.
EXS 1993;67():141-52.
1992: Belal S; Panayides K; Sirugo G; Ben Hamida C; Ioannou P; Hentati F; Beckmann J; Koenig M; Mandel J L; Ben Hamida M
Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.
American journal of human genetics 1992;51(6):1372-6.
1992: Heitz D; Devys D; Imbert G; Kretz C; Mandel J L
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.
Journal of medical genetics 1992;29(11):794-801.
1992: Oudet C; Hanauer A; Clemens P; Caskey T; Mandel J L
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions.
Human molecular genetics 1992;1(8):599-603.
1992: Fujita R; Sirugo G; Duclos F; Abderrahim H; Le Paslier D; Cohen D; Brownstein B H; Schlessinger D; Mandel J L; Koenig M
A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.
Human genetics 1992;89(5):531-8.
1992: Biancalana V; Serville F; Pommier J; Julien J; Hanauer A; Mandel J L
Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.
Human molecular genetics 1992;1(4):255-8.
1992: Mandel J L; Heitz D
Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.
Current opinion in genetics & development 1992;2(3):422-30.
1992: Malmgren H; Steén-Bondeson M L; Gustavson K H; Seémanova E; Holmgren G; Oberlé I; Mandel J L; Pettersson U; Dahl N
Methylation and mutation patterns in the fragile X syndrome.
American journal of medical genetics 1992;43(1-2):268-78.
1992: Oberlé I; Boué J; Croquette M F; Voelckel M A; Mattei M G; Mandel J L
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association.
American journal of medical genetics 1992;43(1-2):224-31.
1992: Devys D; Biancalana V; Rousseau F; Boué J; Mandel J L; Oberlé I
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.
American journal of medical genetics 1992;43(1-2):208-16.
1992: Quantin B; Perricaudet L D; Tajbakhsh S; Mandel J L
Adenovirus as an expression vector in muscle cells in vivo.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(7):2581-4.
1992: Rousseau F; Heitz D; Biancalana V; Oberlé I; Mandel J L
On some technical aspects of direct DNA diagnosis of the fragile X syndrome.
American journal of medical genetics 1992;43(1-2):197-207.
1992: Sirugo G; Keats B; Fujita R; Duclos F; Purohit K; Koenig M; Mandel J L
Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.
American journal of human genetics 1992;50(3):559-66.
1992: Rousseau F; Heitz D; Mandel J L
The unstable and methylatable mutations causing the fragile X syndrome.
Human mutation 1992;1(2):91-6.
1991: Rousseau F; Heitz D; Oberlé I; Mandel J L
Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.
Journal of medical genetics 1991;28(12):830-6.
1991: Feil R; Aubourg P; Mosser J; Douar A M; Le Paslier D; Philippe C; Mandel J L
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.
American journal of human genetics 1991;49(6):1361-71.
1991: Fujita R; Hanauer A; Vincent A; Mandel J L; Koenig M
Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.
Genomics 1991;10(4):915-20.
1991: Oudet C; Heilig R; Hanauer A; Mandel J L
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.
American journal of human genetics 1991;49(2):311-9.
1991: Oberlé I; Rousseau F; Heitz D; Kretz C; Devys D; Hanauer A; Boué J; Bertheas M F; Mandel J L
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.
Science (New York, N.Y.) 1991;252(5010):1097-102.
1991: Oberlé I; Vincent A; Abbadi N; Rousseau F; Hupkes P E; Hors-Cayla M C; Gilgenkrantz S; Oostra B A; Mandel J L
New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval.
American journal of medical genetics 1991;38(2-3):336-42.
1991: Vincent A; Heitz D; Petit C; Kretz C; Oberlé I; Mandel J L
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.
Nature 1991;349(6310):624-6.
1991: Rousseau F; Vincent A; Rivella S; Heitz D; Triboli C; Maestrini E; Warren S T; Suthers G K; Goodfellow P; Mandel J L
Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).
American journal of human genetics 1991;48(1):108-16.
1990: Oudet C; Heilig R; Mandel J L
An informative polymorphism detectable by polymerase chain reaction at the 3' end of dystrophin gene.
Human genetics 1990;85(6):677.
1990: Arveiler B; de Saint-Basile G; Fischer A; Griscelli C; Mandel J L
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.
American journal of human genetics 1990;46(5):906-11.
1990: Hanauer A; Fujita R; Trouillas P; Tommasi-Davenas C; Agid Y; Seck A; Mandel J L
Prenatal diagnosis of Friedreich ataxia.
Lancet 1990;335(8697):1102.
1990: Feil R; Palmieri G; d'Urso M; Heilig R; Oberlé I; Mandel J L
Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome.
American journal of human genetics 1990;46(4):720-8.
1990: Aubourg P; Feil R; Guidoux S; Kaplan J C; Moser H; Kahn A; Mandel J L
The red-green visual pigment gene region in adrenoleukodystrophy.
American journal of human genetics 1990;46(3):459-69.
1990: Fujita R; Hanauer A; Sirugo G; Heilig R; Mandel J L
Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(5):1796-800.
1990: Feil R; Aubourg P; Heilig R; Mandel J L
A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes.
Genomics 1990;6(2):367-73.
1990: Oudet C; Heilig R; Mandel J L
An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene.
Human genetics 1990;84(3):283-5.
1990: Rousseau F; Vincent A; Oberlé I; Mandel J L
New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus.
Human genetics 1990;84(3):263-6.
1990: Hanauer A; Chery M; Fujita R; Driesel A J; Gilgenkrantz S; Mandel J L
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.
American journal of human genetics 1990;46(1):133-7.
1989: Guioli S; Arveiler B; Bardoni B; Notarangelo L D; Panina P; Duse M; Ugazio A; Oberlé I; de Saint Basile G; Mandel J L
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.
Human genetics 1989;84(1):19-21.
1989: Vincent A; Dahl N; Oberlé I; Hanauer A; Mandel J L; Malmgren H; Pettersson U
The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.
Genomics 1989;5(4):797-801.
1989: Arveiler B; Vincent A; Mandel J L
Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region.
Genomics 1989;4(4):460-71.
1989: Vincent A; Kretz C; Oberlé I; Mandel J L
A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome.
Human genetics 1989;82(1):85-6.
1989: Fujita R; Agid Y; Trouillas P; Seck A; Tommasi-Davenas C; Driesel A J; Olek K; Grzeschik K H; Nakamura Y; Mandel J L; Hanauer A
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.
Genomics 1989;4(1):110-1.
1988: Lemaire C; Heilig R; Mandel J L
The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken.
The EMBO journal 1988;7(13):4157-62.
1988: Lemaire C; Heilig R; Mandel J L
Nucleotide sequence of chicken dystrophin cDNA.
Nucleic acids research 1988;16(24):11815-6.
1988: Hanauer A; Alembik Y; Arveiler B; Formiga L; Gilgenkrantz S; Mandel J L
Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.
Human genetics 1988;80(2):177-80.
1988: Arveiler B; Petkovich M; Mandel J L; Chambon P
A PstI RFLP for the human retinoic acid receptor in 17q21.
Nucleic acids research 1988;16(13):6252.
1988: Moisan J P; Mattei M G; Mandel J L
Chromosome localization and polymorphism of an oestrogen-inducible gene specifically expressed in some breast cancers.
Human genetics 1988;79(2):168-71.
1988: Arveiler B; Alembik Y; Hanauer A; Jacobs P; Tranebjaerg L; Mikkelsen M; Puissant H; Piet L L; Mandel J L
Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.
American journal of medical genetics 1988;30(1-2):473-83.
1988: Heilig R; Oberlé I; Arveiler B; Hanauer A; Vidaud M; Mandel J L
Improved DNA markers for efficient analysis of fragile X families.
American journal of medical genetics 1988;30(1-2):543-50.
1988: Amar L C; Dandolo L; Hanauer A; Cook A R; Arnaud D; Mandel J L; Avner P
Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse.
Genomics 1988;2(3):220-30.
1988: Brown W T; Gross A; Chan C; Jenkins E C; Mandel J L; Oberlé I; Arveiler B; Novelli G; Thibodeau S; Hagerman R
Multilocus analysis of the fragile X syndrome.
Human genetics 1988;78(3):201-5.
1988: Arveiler B; Oberlé I; Vincent A; Hofker M H; Pearson P L; Mandel J L
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.
American journal of human genetics 1988;42(2):380-9.
1987: Heilig R; Lemaire C; Mandel J L
A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region.
Nucleic acids research 1987;15(22):9129-42.
1987: Malcolm S; de Saint Basile G; Arveiler B; Lau Y L; Szabo P; Fischer A; Griscelli C; Debre M; Mandel J L; Callard R E
Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).
Human genetics 1987;77(2):172-4.
1987: Oberlé I; Camerino G; Wrogemann K; Arveiler B; Hanauer A; Raimondi E; Mandel J L
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.
Human genetics 1987;77(1):60-5.
1987: Arveiler B; Oberlé I; Mandel J L
Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome.
Genomics 1987;1(1):60-6.
1987: Heilig R; Lemaire C; Mandel J L; Dandolo L; Amar L; Avner P
Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome.
Nature 1987;328(6126):168-70.
1986: Wrogemann K; Koenig M; Alembik Y; Mandel J L
An XmnI RFLP at the subtelomeric Xp locus DXS31 [HGM7, LA, 1985]
Nucleic acids research 1986;14(10):4377.
1986: Oberlé I; Camerino G; Kloepfer C; Moisan J P; Grzeschik K H; Hellkuhl B; Hors-Cayla M C; Van Cong N; Weil D; Mandel J L
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.
Human genetics 1986;72(1):43-9.
1986: Mandel J L; Arveiler B; Camerino G; Hanauer A; Heilig R; Koenig M; Oberlé I
Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():195-203.
1985: Koenig M; Moisan J P; Heilig R; Mandel J L
Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution.
Nucleic acids research 1985;13(15):5485-501.
1984: Tønnesen T; Søndergaard F; Güttler F; Oberlé I; Moisan J P; Mandel J L; Hauge M; Damsgård E M
Exclusion of haemophilia B in male fetus by chorionic villus biopsy.
Lancet 1984;2(8408):932.
1984: Koenig M; Camerino G; Heilig R; Mandel J L
A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm.
Nucleic acids research 1984;12(10):4097-109.
1984: Grunebaum L; Cazenave J P; Camerino G; Kloepfer C; Mandel J L; Tolstoshev P; Jaye M; De la Salle H; Lecocq J P
Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene.
The Journal of clinical investigation 1984;73(5):1491-5.
1984: Camerino G; Grzeschik K H; Jaye M; De La Salle H; Tolstoshev P; Lecocq J P; Heilig R; Mandel J L
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).
Proceedings of the National Academy of Sciences of the United States of America 1984;81(2):498-502.
1982: Heilig R; Muraskowsky R; Kloepfer C; Mandel J L
The ovalbumin gene family: complete sequence and structure of the Y gene.
Nucleic acids research 1982;10(14):4363-82.

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