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Claudine Junien

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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Abifadel Marianne; Rabès Jean-Pierre; Jambart Sélim; Halaby Georges; Gannagé-Yared Marie-Hélène; Sarkis Antoine; Beaino Ghada; Varret Mathilde; Salem Nabiha; Corbani Sandra; Aydénian Hermine; Junien Claudine; Munnich Arnold; Boileau Catherine
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Gabory Anne; Attig Linda; Junien Claudine
Sexual dimorphism in environmental epigenetic programming.
Abifadel Marianne; Rabès Jean-Pierre; Devillers Martine; Munnich Arnold; Erlich Danièle; Junien Claudine; Varret Mathilde; Boileau Catherine
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

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All Publications

2009: Abifadel Marianne; Rabès Jean-Pierre; Jambart Sélim; Halaby Georges; Gannagé-Yared Marie-Hélène; Sarkis Antoine; Beaino Ghada; Varret Mathilde; Salem Nabiha; Corbani Sandra; Aydénian Hermine; Junien Claudine; Munnich Arnold; Boileau Catherine
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Human mutation 2009;30(7):E682-91.
2009: Gabory Anne; Attig Linda; Junien Claudine
Sexual dimorphism in environmental epigenetic programming.
Molecular and cellular endocrinology 2009;304(1-2):8-18.
2009: Abifadel Marianne; Rabès Jean-Pierre; Devillers Martine; Munnich Arnold; Erlich Danièle; Junien Claudine; Varret Mathilde; Boileau Catherine
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Human mutation 2009;30(4):520-9.
2008: Stheneur Chantal; Collod-Béroud Gwenaëlle; Faivre Laurence; Gouya Laurent; Sultan Gilles; Le Parc Jean-Marie; Moura Bertrand; Attias David; Muti Christine; Sznajder Marc; Claustres Mireille; Junien Claudine; Baumann Clarisse; Cormier-Daire Valérie; Rio Marlène; Lyonnet Stanislas; Plauchu Henri; Lacombe Didier; Chevallier Bertrand; Jondeau Guillaume; Boileau Catherine
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Human mutation 2008;29(11):E284-95.
2008: Vigé Alexandre; Gallou-Kabani Catherine; Junien Claudine
Sexual dimorphism in non-Mendelian inheritance.
Pediatric research 2008;63(4):340-7.
2007: Guiraud-Dogan Céline; Huguet Aline; Gomes-Pereira Mário; Brisson Edith; Bassez Guillaume; Junien Claudine; Gourdon Geneviève
DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice.
Biochimica et biophysica acta 2007;1772(11-12):1183-91.
2007: Gallou-Kabani Catherine; Vigé Alexandre; Junien Claudine
Lifelong circadian and epigenetic drifts in metabolic syndrome.
Epigenetics : official journal of the DNA Methylation Society 2007;2(3):137-46.
2007: Gallou-Kabani Catherine; Vigé Alexandre; Gross Marie-Sylvie; Rabès Jean-Pierre; Boileau Catherine; Larue-Achagiotis Christiane; Tomé Daniel; Jais Jean-Philippe; Junien Claudine
C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome.
Obesity (Silver Spring, Md.) 2007;15(8):1996-2005.
2007: Gomes-Pereira Mário; Foiry Laurent; Nicole Annie; Huguet Aline; Junien Claudine; Munnich Arnold; Gourdon Geneviève
CTG trinucleotide repeat "big jumps": large expansions, small mice.
PLoS genetics 2007;3(4):e52.
2007: Gallou-Kabani Catherine; Vigé Alexandre; Gross Marie-Sylvie; Boileau Catherine; Rabes Jean-Pierre; Fruchart-Najib Jamilla; Jais Jean-Philippe; Junien Claudine
Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.
American journal of physiology. Endocrinology and metabolism 2007;292(4):E1095-100.
2007: Llerena Adrián; Michel Gerd; Jeannesson Elise; Wong Steven; Manolopoulos Vangelis G; Hockett Richard Dean; Boubekeur Karima; Siest Gérard; Beaune Philippe; Haefliger Carolina; Arnold Hans Peter; Junien Claudine; Petrovic Nenad; Molloy Roisin; Bekers Otto; Donnelly Claudine; Arens Hans-Juergen; Kaput Jim; McComb Joel
Third Santorini conference pharmacogenomics workshop report: "Pharmacogenomics at the crossroads: what else than good science will be needed for the field to become part of Personalized Medicine?".
Clinical chemistry and laboratory medicine : CCLM / FESCC 2007;45(7):843-50.
2007: Gallou-Kabani Catherine; Vigé Alexandre; Gross Marie-Sylvie; Junien Claudine
Nutri-epigenomics: lifelong remodelling of our epigenomes by nutritional and metabolic factors and beyond.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2007;45(3):321-7.
2006: Foiry Laurent; Mégret Jérôme; Junien Claudine; Gourdon Geneviève
A simple and fast method for cell recovery and DNA content analysis from various mouse tissues by flow cytometry.
Cytotechnology 2006;52(2):107-12.
2006: Niclot Sidonie; Pruvot Quentin; Besson Caroline; Savoy Daniel; Macintyre Elisabeth; Salles Gilles; Brousse Nicole; Varet Bruno; Landais Paul; Taupin Pierre; Junien Claudine; Baudry-Bluteau Dominique
Implication of the folate-methionine metabolism pathways in susceptibility to follicular lymphomas.
Blood 2006;108(1):278-85.
2006: Foiry Laurent; Dong Li; Savouret Cédric; Hubert Laurence; te Riele Hein; Junien Claudine; Gourdon Geneviève
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.
Human genetics 2006;119(5):520-6.
2006: Junien Claudine
Impact of diets and nutrients/drugs on early epigenetic programming.
Journal of inherited metabolic disease 2006;29(2-3):359-65.
2006: Giurgea I; Sanlaville D; Fournet J-C; Sempoux C; Bellanné-Chantelot C; Touati G; Hubert L; Groos M-S; Brunelle F; Rahier J; Henquin J-C; Dunne M J; Jaubert F; Robert J-J; Nihoul-Fékété C; Vekemans M; Junien C; de Lonlay P
Congenital hyperinsulinism and mosaic abnormalities of the ploidy.
Journal of medical genetics 2006;43(3):248-54.
2006: Vigé A; Gallou-Kabani C; Gross M S; Fabre A; Junien C; Jais J P
An oligonucleotide microarray for mouse imprinted genes profiling.
Cytogenetic and genome research 2006;113(1-4):253-61.
2005: Junien Claudine; Gallou-Kabani Catherine; Vigé Alexandre; Gross Marie-Sylvie
[Nutritional epigenomics of metabolic syndrome]
Médecine sciences : M/S 2005;21 Spec No():44-52.
2005: Allard Delphine; Amsellem Sabine; Abifadel Marianne; Trillard Mélanie; Devillers Martine; Luc Gérald; Krempf Michel; Reznik Yves; Girardet Jean-Philippe; Fredenrich Alexandre; Junien Claudine; Varret Mathilde; Boileau Catherine; Benlian Pascale; Rabès Jean-Pierre
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Human mutation 2005;26(5):497.
2005: Gallou-Kabani Catherine; Junien Claudine
Nutritional epigenomics of metabolic syndrome: new perspective against the epidemic.
Diabetes 2005;54(7):1899-906.
2005: Junien C; Gallou-Kabani C; Vigé A; Gross M-S
[Nutritionnal epigenomics: consequences of unbalanced diets on epigenetics processes of programming during lifespan and between generations]
Annales d'endocrinologie 2005;66(2 Pt 3):2S19-28.
2005: Junien Claudine; Gallou-Kabani Catherine; Vigé Alexandre; Gross Marie-Sylvie
[Nutritional epigenomics of metabolic syndrome]
Médecine sciences : M/S 2005;21(4):396-404.
2005: Faussillon Marine; Monnier Lucie; Junien Claudine; Jeanpierre Cécile
Frequent overexpression of cyclin D2/cyclin-dependent kinase 4 in Wilms' tumor.
Cancer letters 2005;221(1):67-75.
2004: Gallou Catherine; Chauveau Dominique; Richard Stéphane; Joly Dominique; Giraud Sophie; Olschwang Sylviane; Martin Natacha; Saquet Céline; Chrétien Yves; Méjean Arnaud; Correas Jean-Michel; Benoît Gérard; Colombeau Pierre; Grünfeld Jean-Pierre; Junien Claudine; Béroud Christophe
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Human mutation 2004;24(3):215-24.
2004: Mizuguchi Takeshi; Collod-Beroud Gwenaëlle; Akiyama Takushi; Abifadel Marianne; Harada Naoki; Morisaki Takayuki; Allard Delphine; Varret Mathilde; Claustres Mireille; Morisaki Hiroko; Ihara Makoto; Kinoshita Akira; Yoshiura Koh-ichiro; Junien Claudine; Kajii Tadashi; Jondeau Guillaume; Ohta Tohru; Kishino Tatsuya; Furukawa Yoichi; Nakamura Yusuke; Niikawa Norio; Boileau Catherine; Matsumoto Naomichi
Heterozygous TGFBR2 mutations in Marfan syndrome.
Nature genetics 2004;36(8):855-60.
2004: de Lonlay P; Giurgea Irina; Robert Jean-Jacques; Fournet Jean-Christophe; Touati Guy; Nihoul-Fékété Claire; Brunelle Francis; Jaubert Francis; Rahier Jacques; Sempoux Christine; Junien Claudine; Saudubray Jean-Marie; Dunne Mark; Otonkoski Timo; Ribeiro Maria; Bellané-Chantelot Christine;
Hyperinsulinemic hypoglycemia in children.
Annales d'endocrinologie 2004;65(1):96-8.
2004: Abifadel M; Jambart S; Allard D; Rabès J-P; Varret M; Derré A; Chouery E; Salem N; Junien C; Aydénian H; Boileau C
Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method.
Clinical genetics 2004;65(2):158-61.
2004: Savouret Cédric; Garcia-Cordier Corinne; Megret Jérôme; te Riele Hein; Junien Claudine; Gourdon Geneviève
MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.
Molecular and cellular biology 2004;24(2):629-37.
2004: Fournet Jean-Christophe; Junien Claudine
Genetics of congenital hyperinsulinism.
Endocrine pathology 2004;15(3):233-40.
2004: Junien Claudine; Gallou Catherine
Cancer nutrigenomics.
World review of nutrition and dietetics 2004;93():210-69.
2004: Savouret Cédric; Junien Claudine; Gourdon Geneviève
Analysis of CTG repeats using DM1 model mice.
Methods in molecular biology (Clifton, N.J.) 2004;277():185-97.
2003: Gallou Catherine; Méjean Arnaud; Bouvier Raymonde; Lucien Florence; Perennou Morgan; Zindy Pierre-Joachim; Grifone Raphaelle; Chrétien Yves; Junien Claudine; Béroud Christophe
Delineation of a 2.8 megabases region harboring a potential tumor suppressor gene involved in renal cell carcinoma, that is commonly deleted from chromosome 14.
Anticancer research 2003;23(6C):4865-70.
2003: Collod-Béroud Gwenaëlle; Le Bourdelles Saga; Ades Lesley; Ala-Kokko Leena; Booms Patrick; Boxer Maureen; Child Anne; Comeglio Paolo; De Paepe Anne; Hyland James C; Holman Katerine; Kaitila Ilkka; Loeys Bart; Matyas Gabor; Nuytinck Lieve; Peltonen Leena; Rantamaki Terhi; Robinson Peter; Steinmann Beat; Junien Claudine; Béroud Christophe; Boileau Catherine
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Human mutation 2003;22(3):199-208.
2003: Abifadel Marianne; Varret Mathilde; Rabès Jean-Pierre; Allard Delphine; Ouguerram Khadija; Devillers Martine; Cruaud Corinne; Benjannet Suzanne; Wickham Louise; Erlich Danièle; Derré Aurélie; Villéger Ludovic; Farnier Michel; Beucler Isabel; Bruckert Eric; Chambaz Jean; Chanu Bernard; Lecerf Jean-Michel; Luc Gerald; Moulin Philippe; Weissenbach Jean; Prat Annick; Krempf Michel; Junien Claudine; Seidah Nabil G; Boileau Catherine
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Nature genetics 2003;34(2):154-6.
2003: Savouret Cédric; Brisson Edith; Essers Jeroen; Kanaar Roland; Pastink Albert; te Riele Hein; Junien Claudine; Gourdon Geneviève
CTG repeat instability and size variation timing in DNA repair-deficient mice.
The EMBO journal 2003;22(9):2264-73.
2003: Sempoux Christine; Guiot Yves; Dahan Karin; Moulin Pierre; Stevens Martine; Lambot Virginie; de Lonlay Pascale; Fournet Jean-Christophe; Junien Claudine; Jaubert Francis; Nihoul-Fekete Claire; Saudubray Jean-Marie; Rahier Jacques
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.
Diabetes 2003;52(3):784-94.
2003: Baudry Dominique; Cabanis Marie-Odile; Patte Catherine; Zucker Jean-Michel; Pein François; Fournet Jean-Christophe; Sarnacki Sabine; Junien Claudine; Jeanpierre Cécile
Cadherins in Wilms' tumor: E-cadherin expression despite absence of WT1.
Anticancer research 2003;23(1A):475-8.
2003: Fournet Jean-Christophe; Junien Claudine
The genetics of neonatal hyperinsulinism.
Hormone research 2003;59 Suppl 1():30-4.
2002: de Lonlay Pascale; Cormier-Daire Valérie; Amiel Jeanne; Touati Guy; Goldenberg Alice; Fournet Jean-Christophe; Brunelle Francis; Nihoul-Fékété Claire; Rahier Jacques; Junien Claudine; Robert Jean-Jacques; Saudubray Jean-Marie
Facial appearance in persistent hyperinsulinemic hypoglycemia.
American journal of medical genetics 2002;111(2):130-3.
2002: Baudry Dominique; Faussillon Marine; Cabanis Marie-Odile; Rigolet Muriel; Zucker Jean-Michel; Patte Catherine; Sarnacki Sabine; Boccon-Gibod Liliane; Junien Claudine; Jeanpierre Cécile
Changes in WT1 splicing are associated with a specific gene expression profile in Wilms' tumour.
Oncogene 2002;21(36):5566-73.
2002: Villéger Ludovic; Abifadel Marianne; Allard Delphine; Rabès Jean-Pierre; Thiart Rochelle; Kotze Maritha J; Béroud Christophe; Junien Claudine; Boileau Catherine; Varret Mathilde
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Human mutation 2002;20(2):81-7.
2002: Darendeliler Feyza; Fournet Jean-Christophe; Bas Firdevs; Junien Claudine; Gross Marie-Sylvie; Bundak Rüveyde; Saka Nurçin; Günöz Hülya
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.
Journal of pediatric endocrinology & metabolism : JPEM 2002;15(7):993-1000.
2002: Marquis E; Robert J J; Bouvattier C; Bellanné-Chantelot C; Junien C; Diatloff-Zito C
Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes.
Journal of medical genetics 2002;39(5):370-4.
2002: de Lonlay Pascale; Fournet Jean-Christophe; Touati Guy; Groos Marie-Sylvie; Martin Delphine; Sevin Caroline; Delagne Véronique; Mayaud Christine; Chigot Valérie; Sempoux Christine; Brusset Marie-Claire; Laborde Kathleen; Bellane-Chantelot Christine; Vassault Anne; Rahier Jacques; Junien Claudine; Brunelle Francis; Nihoul-Fékété Claire; Saudubray Jean-Marie; Robert Jean-Jacques
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
European journal of pediatrics 2002;161(1):37-48.
2001: Rigolet M; Faussillon M; Baudry D; Junien C; Jeanpierre C
Profiling of differential gene expression in Wilms tumor by cDNA expression array.
Pediatric nephrology (Berlin, Germany) 2001;16(12):1113-21.
2001: Seznec H; Agbulut O; Sergeant N; Savouret C; Ghestem A; Tabti N; Willer J C; Ourth L; Duros C; Brisson E; Fouquet C; Butler-Browne G; Delacourte A; Junien C; Gourdon G
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.
Human molecular genetics 2001;10(23):2717-26.
2001: Furling D; Coiffier L; Mouly V; Barbet J P; St Guily J L; Taneja K; Gourdon G; Junien C; Butler-Browne G S
Defective satellite cells in congenital myotonic dystrophy.
Human molecular genetics 2001;10(19):2079-87.
2001: Gallou C; Longuemaux S; Deloménie C; Méjean A; Martin N; Martinet S; Palais G; Bouvier R; Droz D; Krishnamoorthy R; Junien C; Béroud C; Dupret J M
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.
Pharmacogenetics 2001;11(6):521-35.
2001: Fournet J C; Mayaud C; de Lonlay P; Gross-Morand M S; Verkarre V; Castanet M; Devillers M; Rahier J; Brunelle F; Robert J J; Nihoul-Fékété C; Saudubray J M; Junien C
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
The American journal of pathology 2001;158(6):2177-84.
2001: de Lonlay-Debeney P; Fournet J C; Touati G; Robert J J; Junien C; Saudubray J M
[Hyperinsulinism]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8 Suppl 2():298s-300s.
2000: Baudry D; Hamelin M; Cabanis M O; Fournet J C; Tournade M F; Sarnacki S; Junien C; Jeanpierre C
WT1 splicing alterations in Wilms' tumors.
Clinical cancer research : an official journal of the American Association for Cancer Research 2000;6(10):3957-65.
2000: Rabès J P; Varret M; Devillers M; Aegerter P; Villéger L; Krempf M; Junien C; Boileau C
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology 2000;20(10):E76-82.
2000: Marquis E; Le Monnier de Gouville I; Bouvattier C; Robert J J; Junien C; Charron D; Hors J; Diatloff-Zito C
HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases.
Tissue antigens 2000;56(3):217-22.
2000: Saint-Jore B; Varret M; Dachet C; Rabès J P; Devillers M; Erlich D; Blanchard P; Krempf M; Mathé D; Chanu B; Jacotot B; Farnier M; Bonaïti-Péllié C; Junien C; Boileau C
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
European journal of human genetics : EJHG 2000;8(8):621-30.
2000: Seznec H; Lia-Baldini A S; Duros C; Fouquet C; Lacroix C; Hofmann-Radvanyi H; Junien C; Gourdon G
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.
Human molecular genetics 2000;9(8):1185-94.
2000: Marquis E; Robert J J; Benezech C; Junien C; Diatloff-Zito C
Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6.
European journal of human genetics : EJHG 2000;8(2):137-40.
2000: Junien C; Dupret J M; Gallou C; Longuemaux S; Richard S; Saquet C; Krishnamoorty R; Delomenie C; Droz D; Bouvier R; Chauveau D; Joly D; Grunfeld J P; Chretien Y; Mejean A; Beroud C
[Prevention of renal carcinoma: the nutri-genetic approach]
Journal de la Société de biologie 2000;194(1):29-38.
2000: Fournet J C; Mayaud C; de Lonlay P; Verkarre V; Rahier J; Brunelle F; Robert J J; Nihoul-Fékété C; Saudubray J M; Junien C
Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism.
Hormone research 2000;53 Suppl 1():2-6.
2000: Béroud C; Collod-Béroud G; Boileau C; Soussi T; Junien C
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.
Human mutation 2000;15(1):86-94.
1999: Collod-Béroud G; Lackmy-Port-Lys M; Jondeau G; Mathieu M; Maingourd Y; Coulon M; Guillotel M; Junien C; Boileau C
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
American journal of human genetics 1999;65(3):917-21.
1999: Longuemaux S; Deloménie C; Gallou C; Méjean A; Vincent-Viry M; Bouvier R; Droz D; Krishnamoorthy R; Galteau M M; Junien C; Béroud C; Dupret J M
Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: a study of polymorphic human xenobiotic-metabolizing enzymes.
Cancer research 1999;59(12):2903-8.
1999: Varret M; Rabès J P; Saint-Jore B; Cenarro A; Marinoni J C; Civeira F; Devillers M; Krempf M; Coulon M; Thiart R; Kotze M J; Schmidt H; Buzzi J C; Kostner G M; Bertolini S; Pocovi M; Rosa A; Farnier M; Martinez M; Junien C; Boileau C
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
American journal of human genetics 1999;64(5):1378-87.
1999: de Lonlay-Debeney P; Poggi-Travert F; Fournet J C; Sempoux C; Vici C D; Brunelle F; Touati G; Rahier J; Junien C; Nihoul-Fékété C; Robert J J; Saudubray J M
Clinical features of 52 neonates with hyperinsulinism.
The New England journal of medicine 1999;340(15):1169-75.
1999: Gallou C; Joly D; Méjean A; Staroz F; Martin N; Tarlet G; Orfanelli M T; Bouvier R; Droz D; Chrétien Y; Maréchal J M; Richard S; Junien C; Béroud C
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
Human mutation 1999;13(6):464-75.
1998: de Lonlay-Debeney P; Fournet J C; Martin D; Poggi F; Dionisi Vicci C; Spada M; Touati G; Rahier J; Brunelle F; Junien C; Robert J J; Nihoul-Fékété C; Saudubray J M
[Persistent hyperinsulinemic hypoglycemia in the newborn and infants]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1998;5(12):1347-52.
1998: Rigolet M; Rich T; Gross-Morand M S; Molina-Gomes D; Viegas-Pequignot E; Junien C
cDNA cloning, tissue distribution and chromosomal localization of the human ID4 gene.
DNA research : an international journal for rapid publication of reports on genes and genomes 1998;5(5):309-13.
1998: Verkarre V; Fournet J C; de Lonlay P; Gross-Morand M S; Devillers M; Rahier J; Brunelle F; Robert J J; Nihoul-Fékété C; Saudubray J M; Junien C
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
The Journal of clinical investigation 1998;102(7):1286-91.
1998: Lia A S; Seznec H; Hofmann-Radvanyi H; Radvanyi F; Duros C; Saquet C; Blanche M; Junien C; Gourdon G
Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.
Human molecular genetics 1998;7(8):1285-91.
1998: Jeanpierre C; Denamur E; Henry I; Cabanis M O; Luce S; Cécille A; Elion J; Peuchmaur M; Loirat C; Niaudet P; Gubler M C; Junien C
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
American journal of human genetics 1998;62(4):824-33.
1998: Jeanpierre C; Béroud C; Niaudet P; Junien C
Software and database for the analysis of mutations in the human WT1 gene.
Nucleic acids research 1998;26(1):271-4.
1998: Béroud C; Joly D; Gallou C; Staroz F; Orfanelli M T; Junien C
Software and database for the analysis of mutations in the VHL gene.
Nucleic acids research 1998;26(1):256-8.
1998: Varret M; Rabés J P; Thiart R; Kotze M J; Baron H; Cenarro A; Descamps O; Ebhardt M; Hondelijn J C; Kostner G M; Miyake Y; Pocovi M; Schmidt H; Schuster H; Stuhrmann M; Yamamura T; Junien C; Béroud C; Boileau C
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
Nucleic acids research 1998;26(1):248-52.
1998: Collod-Béroud G; Béroud C; Ades L; Black C; Boxer M; Brock D J; Holman K J; de Paepe A; Francke U; Grau U; Hayward C; Klein H G; Liu W; Nuytinck L; Peltonen L; Alvarez Perez A B; Rantamäki T; Junien C; Boileau C
Marfan Database (third edition): new mutations and new routines for the software.
Nucleic acids research 1998;26(1):229-3.
1998: Fournet J C; Verkarre V; De Lonlay P; Rahier J; Brunelle F; Robert J J; Nihoul-Fékété C; Saudubray J M; Junien C
Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.
Annales d'endocrinologie 1998;59(6):485-91.
1997: de Lonlay P; Fournet J C; Rahier J; Gross-Morand M S; Poggi-Travert F; Foussier V; Bonnefont J P; Brusset M C; Brunelle F; Robert J J; Nihoul-Fékété C; Saudubray J M; Junien C
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
The Journal of clinical investigation 1997;100(4):802-7.
1997: Chéhensse V; Boulvin C; Luce S; Tora L; Junien C; Henry I
Detection of an EcoRI restriction fragment length polymorphism in the gene encoding the human TBP associated factor II 30 (TAF(II)30).
Clinical genetics 1997;51(4):288-9.
1997: Gourdon G; Radvanyi F; Lia A S; Duros C; Blanche M; Abitbol M; Junien C; Hofmann-Radvanyi H
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.
Nature genetics 1997;15(2):190-2.
1997: Varret M; Rabès J P; Collod-Béroud G; Junien C; Boileau C; Béroud C
Software and database for the analysis of mutations in the human LDL receptor gene.
Nucleic acids research 1997;25(1):172-80.
1997: Collod-Béroud G; Béroud C; Adès L; Black C; Boxer M; Brock D J; Godfrey M; Hayward C; Karttunen L; Milewicz D; Peltonen L; Richards R I; Wang M; Junien C; Boileau C
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
Nucleic acids research 1997;25(1):147-50.
1997: Gourdon G; Dessen P; Lia A S; Junien C; Hofmann-Radvanyi H
Intriguing association between disease associated unstable trinucleotide repeat and CpG island.
Annales de génétique 1997;40(2):73-7.
1997: Rabès J P; Varret M; Saint-Jore B; Erlich D; Jondeau G; Krempf M; Giraudet P; Junien C; Boileau C
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.
Human mutation 1997;10(2):160-3.
1997: Chéhensse V; Boulvin C; Luce S; Tora L; Junien C; Henry I
Assignment of the human TAFII30 gene (TAF2H) to human chromosome band 11p15.3 using somatic cell hybrids.
Cytogenetics and cell genetics 1997;76(1-2):41-2.
1997: Junien C; Béroud C; Fournet J C
Prevention and treatment of renal carcinoma: new genetic strategies.
Advances in nephrology from the Necker Hospital 1997;26():81-106.
1996: Béroud C; Fournet J C; Jeanpierre C; Droz D; Bouvier R; Froger D; Chrétien Y; Maréchal J M; Weissenbach J; Junien C
Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas.
Genes, chromosomes & cancer 1996;17(4):215-24.
1996: Collod G; Béroud C; Soussi T; Junien C; Boileau C
Software and database for the analysis of mutations in the human FBN1 gene.
Nucleic acids research 1996;24(1):137-40.
1996: Collod G; Chu M L; Sasaki T; Coulon M; Timpl R; Renkart L; Weissenbach J; Jondeau G; Bourdarias J P; Junien C; Boileau C
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.
European journal of human genetics : EJHG 1996;4(5):292-5.
1995: Austruy E; Candon S; Henry I; Gyapay G; Tournade M F; Mannens M; Callen D; Junien C; Jeanpierre C
Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis.
Genes, chromosomes & cancer 1995;14(4):285-94.
1994: Collod G; Babron M C; Jondeau G; Coulon M; Weissenbach J; Dubourg O; Bourdarias J P; Bonaïti-Pellié C; Junien C; Boileau C
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.
Nature genetics 1994;8(3):264-8.
1994: Hamelin R; Barichard F; Henry I; Junien C; Thomas G
Single base pair germ-line deletion in the p53 gene in a cancer predisposed family.
Human genetics 1994;94(1):88-90.
1993: Hofmann-Radvanyi H; Junien C
Myotonic dystrophy: over-expression or/and under-expression? A critical review on a controversial point.
Neuromuscular disorders : NMD 1993;3(5-6):497-501.
1993: Hofmann-Radvanyi H; Lavedan C; Rabès J P; Savoy D; Duros C; Johnson K; Junien C
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.
Human molecular genetics 1993;2(8):1263-6.
1993: Saint-Jore B; Loux N; Junien C; Boileau C
Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.
Human genetics 1993;91(5):511-2.
1993: Austruy E; Cohen-Salmon M; Antignac C; Béroud C; Henry I; Nguyen V C; Brugières L; Junien C; Jeanpierre C
Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach.
Cancer research 1993;53(12):2888-94.
1993: Lavedan C; Hofmann-Radvanyi H; Shelbourne P; Rabes J P; Duros C; Savoy D; Dehaupas I; Luce S; Johnson K; Junien C
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.
American journal of human genetics 1993;52(5):875-83.
1993: Henry I; Hoovers J; Barichard F; Berthéas M F; Puech A; Prieur F; Gessler M; Bruns G; Mannens M; Junien C
Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family.
Genes, chromosomes & cancer 1993;7(1):57-62.
1993: Austruy E; Jeanpierre C; Antignac C; Whitmore S A; Van Cong N; Bernheim A; Callen D F; Junien C
Physical and genetic mapping of the dipeptidase gene DPEP1 to 16q24.3.
Genomics 1993;15(3):684-7.
1993: Pessah M; Beucler I; Loux N; Navarro J; Guillerd X; Dulac O; Lequeux J; Junien C; Infante R
Genetic exclusion of apo-B gene in recessive abetalipoproteinemia.
Biochemical and biophysical research communications 1993;190(1):97-103.
1993: Junien C
Wilms' tumor: tumor suppressor genes and imprinting.
Pathologie-biologie 1993;41(1):23-4.
1993: Lavedan C; Hofmann-Radvanyi H; Rabes J P; Roume J; Junien C
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy.
Lancet 1993;341(8839):237.
1993: Jeanpierre C; Austruy E; Delattre O; Jones C; Junien C
Subregional physical mapping of an alpha B-crystallin sequence and of a new expressed sequence D11S877E to human 11q.
Mammalian genome : official journal of the International Mammalian Genome Society 1993;4(2):104-8.
1993: Jeanpierre C; Whitmore S A; Austruy E; Cohen-Salmon M; Callen D F; Junien C
Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11.
Cytogenetics and cell genetics 1993;62(4):185-7.
1993: Loux N; Saint-Jore B; Collod G; Benlian P; Cambou J P; Denat M; Junien C; Boileau C
Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.
Human mutation 1993;2(2):145-7.
1993: Henry I; Puech A; Riesewijk A; Ahnine L; Mannens M; Beldjord C; Bitoun P; Tournade M F; Landrieu P; Junien C
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event.
European journal of human genetics : EJHG 1993;1(1):19-29.
1992: Boileau C; Coulon M; Junien C
[Marfan syndrome. Current molecular data]
Archives françaises de pédiatrie 1992;49(10):941-3.
1992: Junien C; van Heyningen V; Evans G; Little P; Mannens M
Report of the second chromosome 11 workshop.
Genomics 1992;12(3):620-5.
1992: Sarfarazi M; Tsipouras P; Del Mastro R; Kilpatrick M; Farndon P; Boxer M; Bridges A; Boileau C; Junien C; Hayward C
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.
Journal of medical genetics 1992;29(2):75-80.
1992: Loux N; Saint-Jore B; Collod G; Dairou F; Benlian P; Truffert J; Dastugue B; Douste-Blazy P; de Gennes J L; Junien C
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
Human mutation 1992;1(4):325-32.
1991: Lavedan C; Savoy D; Simon M; Wieringa B; Junien C
NcoI RFLP at 19q13 identified by the DNA sequence pW119B (D19S169).
Nucleic acids research 1991;19(20):5804.
1991: Puech A; Henry I; Jeanpierre C; Junien C
A highly polymorphic probe on 11p15.5: L22.5.2 (D11S774).
Nucleic acids research 1991;19(18):5095.
1991: Loux N; Benlian P; Pastier D; Boileau C; Cambou J P; Monnier L; Percheron C; Junien C
Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.
Human genetics 1991;87(3):373-5.
1991: Henry I; Bonaiti-Pellié C; Chehensse V; Beldjord C; Schwartz C; Utermann G; Junien C
Uniparental paternal disomy in a genetic cancer-predisposing syndrome.
Nature 1991;351(6328):665-7.
1991: Junien C
[Molecular genetics of heart diseases. A familial approach]
Archives des maladies du coeur et des vaisseaux 1991;84(2):201-11.
1991: Lavedan C; Hofmann H; Shelbourne P; Duros C; Savoy D; Johnson K; Junien C
Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
Journal of medical genetics 1991;28(2):89-91.
1991: Junien C; Henry I; Jeanpierre C; Lavedan C; Antignac C; Puech A; Beroud C
[Antioncogenes: models for tumors in children]
Bulletin du cancer 1991;78(1):57-68.
1991: Pessah M; Benlian P; Beucler I; Loux N; Schmitz J; Junien C; Infante R
Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families.
The Journal of clinical investigation 1991;87(1):367-70.
1990: Lavedan C; Duros C; Savoy D; Leblond S; Bailly J; Korneluk R; Junien C
Direct haplotyping by double digestion of PCR-amplified creatine kinase (CKMM): application to myotonic dystrophy diagnosis.
Genomics 1990;8(4):739-40.
1990: Jeanpierre C; Antignac C; Beroud C; Lavedan C; Henry I; Saunders G; Williams B; Glaser T; Junien C
Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.
Genomics 1990;7(3):434-8.
1990: Boileau C; Jondeau G; Bonaiti C; Coulon M; Delorme G; Dubourg O; Bourdarias J P; Junien C
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.
Journal of medical genetics 1990;27(2):78-81.
1989: Boileau C; Junien C
Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.
Journal of medical genetics 1989;26(12):790-1.
1989: Benlian P; Bonaiti C; Douste-Blazy P; Junien C
Candidate gene approach to type IIa hypercholesterolaemia.
Lancet 1989;1(8648):1201-2.
1989: Henry I; Grandjouan S; Couillin P; Barichard F; Huerre-Jeanpierre C; Glaser T; Philip T; Lenoir G; Chaussain J L; Junien C
Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(9):3247-51.
1989: Henry I; Jeanpierre M; Couillin P; Barichard F; Serre J L; Journel H; Lamouroux A; Turleau C; de Grouchy J; Junien C
Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.
Human genetics 1989;81(3):273-7.
1989: Junien C
[Myotonic dystrophy of Steinert]
Journal de génétique humaine 1989;37(1):51-4.
1989: Couillin P; Azoulay M; Metezeau P; Grisard M C; Junien C
The gene for catalase is assigned between the antigen loci MIC4 and MIC11.
Genomics 1989;4(1):7-11.
1989: Lavedan C; Barichard F; Azoulay M; Couillin P; Molina Gomez D; Nicolas H; Quack B; Rethoré M O; Noel B; Junien C
Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13.
Cytogenetics and cell genetics 1989;50(2-3):70-4.
1989: Henry I; Grandjouan S; Barichard F; Huerre-Jeanpierre C; Junien C
Mitotic deletions of 11p15.5 in two different tumors indicate that the CALCA locus is distal to the PTH locus.
Cytogenetics and cell genetics 1989;50(2-3):155-7.
1988: Henry I; Jeanpierre M; Barichard F; Serre J L; Mallet J; Turleau C; de Grouchy J; Junien C
Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome.
Annales de génétique 1988;31(4):216-20.
1987: Barichard F; Joulin V; Henry I; Garel M C; Valentin C; Rosa R; Cohen-Solal M; Junien C
Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34----7q22.
Human genetics 1987;77(3):283-5.
1987: Azoulay M; Henry I; Tata F; Weil D; Grzeschik K H; Chaves M E; McIntyre N; Williamson R; Humphries S E; Junien C
The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22.
Annals of human genetics 1987;51(Pt 2):129-36.
1987: Junien C; Boué J; Duros C; Coulon M; Cohen P; Dehaupas I; Gallano P; Léotard B; Nicolas H; Boué A
[Molecular diagnosis of Duchenne and Becker muscular dystrophies. Current data]
Annales de génétique 1987;30(1):5-16.
1986: Barni N; Talmud P J; Carlsson P; Azoulay M; Darnfors C; Harding D; Weil D; Grzeschik K H; Bjursell G; Junien C
The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene--a useful marker for human chromosome 2.
Human genetics 1986;73(4):313-9.
1986: Kunkel L M; Hejtmancik J F; Caskey C T; Speer A; Monaco A P; Middlesworth W; Colletti C A; Bertelson C; Müller U; Bresnan M; Shapiro F; Tantravahi U; Speer J; Latt S A; Bartlett R; Pericak-Vance M A; Roses A D; Thompson M W; Ray P N; Worton R G; Fischbeck K H; Gallano P; Coulon M; Duros C; Boue J; Junien C; Chelly J; Hamard G; Jeanpierre M; Lambert M; Kaplan J C; Emery A; Dorkins H; McGlade S; Davies K E; Boehm C; Arveiler B; Lemaire C; Morgan G J; Denton M J; Amos J; Bobrow M; Benham F; Boswinkel E; Cole C; Dubowitz V; Hart K; Hodgson S; Johnson L; Walker A; Roncuzzi L; Ferlini A; Nobile C; Romeo G; Wilcox D E; Affara N A; Ferguson-Smith M A; Lindolf M; Kaariainen H; de la Chapelle A; Ionasescu V; Searby C; Ionasescu R; Bakker E; van Ommen G J; Pearson P L; Greenberg C R; Hamerton J L; Wrogemann K; Doherty R A; Polakowska R; Hyser C; Quirk S; Thomas N; Harper J F; Darras B T; Francke U
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1986: Huerre-Jeanpierre C; Henry I; Bernard M; Gallano P; Weil D; Grzeschik K H; Ramirez F; Junien C
The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1).
Human genetics 1986;73(1):64-7.
1986: Huerre-Jeanpierre C; Mattei M G; Weil D; Grzeschik K H; Chu M L; Sangiorgi F O; Sobel M E; Ramirez F; Junien C
Further evidence for the dispersion of the human fibrillar collagen genes.
American journal of human genetics 1986;38(1):26-37.
1985: Jeanpierre M; Weil D; Gallano P; Creau-Goldberg N; Junien C
The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific.
Human genetics 1985;70(4):302-10.
1985: Ramirez F; Bernard M; Chu M L; Dickson L; Sangiorgi F; Weil D; De Wet W; Junien C; Sobel M
Isolation and characterization of the human fibrillar collagen genes.
Annals of the New York Academy of Sciences 1985;460():117-29.
1985: Humphries S E; Tata F; Henry I; Barichard F; Holm M; Junien C; Williamson R
The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase).
Human genetics 1985;71(3):254-8.
1985: Dorkins H; Junien C; Mandel J L; Wrogemann K; Moison J P; Martinez M; Old J M; Bundey S; Schwartz M; Carpenter N
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.
Human genetics 1985;71(2):103-7.
1985: Tata F; Henry I; Markham A F; Wallis S C; Weil D; Grzeschik K H; Junien C; Williamson R; Humphries S E
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19.
Human genetics 1985;69(4):345-9.

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