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1

UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases

Christophe Béroud, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Claudine Junien

Journal:

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

2

Le dimorphisme sexuel au XXI e siècle

Junien, Claudine, Gabory, Anne, Attig, Linda

Journal:

médecine/sciences

Year:

2012

Language:

french

File:

PDF, 713 KB

french, 2012

3

Facial appearance in persistent hyperinsulinemic hypoglycemia

Pascale de Lonlay, Valérie Cormier-Daire, Jeanne Amiel, Guy Touati, Alice Goldenberg, Jean-Christophe Fournet, Francis Brunelle, Claire Nihoul-Fékété, Jacques Rahier, Claudine Junien, Jean-Jacques Rob

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 133 KB

english, 2002

4

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease

Marianne Abifadel, Jean-Pierre Rabès, Martine Devillers, Arnold Munnich, Danièle Erlich, Claudine Junien, Mathilde Varret, Catherine Boileau

Journal:

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

5

Nutri-epigenomics: lifelong remodelling of our epigenomes by nutritional and metabolic factors and beyond

Gallou-Kabani, Catherine, Vigé, Alexandre, Gross, Marie-Sylvie, Junien, Claudine

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2007

Language:

english

File:

PDF, 95 KB

english, 2007

6

Epigénétique et Nutrition : impacts de l’alimentation maternelle sur le développement placentaire et la santé de la descendance

Panchenko, Polina E., Lemaire, Marion, Fneich, Sara, Voisin, Sarah, Jouin, Mélanie, Junien, Claudine, Gabory, Anne

Journal:

Biologie Aujourd hui

Year:

2015

File:

PDF, 782 KB

2015

7

DOHaD et information épigénétique

Rial-Sebbag, Emmanuelle, Guibet Lafaye, Caroline, Simeoni, Umberto, Junien, Claudine

Journal:

médecine/sciences

Year:

2016

Language:

french

File:

PDF, 159 KB

french, 2016

8

Le nouveau paradigme de l’origine développementale de la santé et des maladies (DOHaD)

Junien, Claudine, Panchenko, Polina, Pirola, Luciano, Amarger, Valérie, Kaeffer, Bertrand, Parnet, Patricia, Torrisani, Jérôme, Bolaños Jimenez, Francisco, Jammes, Hélène, Gabory, Anne

Journal:

médecine/sciences

Year:

2016

Language:

french

File:

PDF, 245 KB

french, 2016

9

Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family

Isabelle Henry, Jan Hoovers, Fernande Barichard, Marie-Françoise Berthéas, Anne Puech, Fabienne Prieur, Manfred Gessler, Gail Bruns, Marcel Mannens, Dr. Claudine Junien

Journal:

Genes, Chromosomes and Cancer

Year:

1993

Language:

english

File:

PDF, 564 KB

english, 1993

10

Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis

Estelle Austruy, Sophie Candon, Isabelle Henry, Gabor Gyapay, Marie-France Tournade, Marcel Mannens, David Callen, Claudine Junien, Cécile Jeanpierre

Journal:

Genes, Chromosomes and Cancer

Year:

1995

Language:

english

File:

PDF, 760 KB

english, 1995

11

The UMD-LDLR database: additions to the software and 490 new entries to the database

Ludovic Villéger, Marianne Abifadel, Delphine Allard, Jean-Pierre Rabès, Rochelle Thiart, Maritha J. Kotze, Christophe Béroud, Claudine Junien, Catherine Boileau, Mathilde Varret

Journal:

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

12

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Marie Marduel, Alain Carrié, Agnes Sassolas, Martine Devillers, Valérie Carreau, Mathilde Di Filippo, Danièle Erlich, Marianne Abifadel, Alice Marques-Pinheiro, Arnold Munnich, Claudine Junien, Cather

Journal:

Year:

2010

Language:

english

File:

PDF, 122 KB

english, 2010

13

Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean-Philippe Girardet, Alexandre Fredenrich, Claudine Junien, Mathild

Journal:

Year:

2005

File:

PDF, 18 KB

2005

14

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean-Philippe Girardet, Alexandre Fredenrich, Claudine Junien, Mathild

Journal:

Year:

2005

Language:

english

File:

PDF, 254 KB

english, 2005

15

12pter → 12p 12.2: Possible assignment of human triose phosphate isomerase

Marie-Odile Rethoré, J. Cl. Kaplan, Claudine Junien, J. Lejeune

Journal:

Year:

1977

Language:

english

File:

PDF, 141 KB

english, 1977

16

Regional assignment of red cell acid phosphatase locus to band 2p25

Claudine Junien, J.-C. Kaplan, A. Bernheim, R. Berger

Journal:

Year:

1979

Language:

english

File:

PDF, 423 KB

english, 1979

17

Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p

Françoise Serville, Claudine Junien, J. Cl. Kaplan, Monique Gachet, J. Cadoux, A. Broustet

Journal:

Year:

1978

Language:

english

File:

PDF, 390 KB

english, 1978

18

Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma

Isabelle Henry, Marc Jeanpierre, Philippe Couillin, Fernande Barichard, Jean-Louis Serre, Hubert Journel, Annie Lamouroux, Catherine Turleau, Jean Grouchy, Claudine Junien

Journal:

Year:

1989

Language:

english

File:

PDF, 538 KB

english, 1989

19

Retinoblastoma-del(13q14): Report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D

Horacio Rivera, Catherine Turleau, Jean Grouchy, Claudine Junien, Suzy Despoisse, Jean-Michel Zucker

Journal:

Year:

1981

Language:

english

File:

PDF, 923 KB

english, 1981

20

Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34→7q22

Fernande Barichard, Virginie Joulin, Isabelle Henry, Marie-Claude Garel, Colette Valentin, Raymonde Rosa, Michel Cohen-Solal, Claudine Junien

Journal:

Year:

1987

Language:

english

File:

PDF, 324 KB

english, 1987

21

Subregional physical mapping of an αB-crystallin sequence and of a new expressed sequence D11S877E to human 11q

Cécile Jeanpierre, Estelle Austruy, Olivier Delattre, Carol Jones, Claudine Junien

Journal:

Mammalian Genome

Year:

1993

Language:

english

File:

PDF, 487 KB

english, 1993

22

Assignment of NADH-cytochrome b5reductase (DIA1locus) to human chromosome 22

Claudine Junien, Magdeleine Vibert, Dominique Weil, Nguyen Van-Cong, Jean-Claude Kaplan

Journal:

Year:

1978

Language:

english

File:

PDF, 377 KB

english, 1978

23

Del11p13/nephroblastoma without aniridia

Catherine Turleau, J. Grouchy, Claire Nihoul-Fékété, J. L. Dufier, Françoise Chavin-Colin, Claudine Junien

Journal:

Year:

1984

Language:

english

File:

PDF, 236 KB

english, 1984

24

Conservation of the human COL1A1-TK-GAA synteny and homoeologous assignment in the African green monkey and the baboon (Cercopithecoidae)

Nicole Créau-Goldberg, Catherine Turleau, Chantal Cochet, Cécile Huerre, Claudine Junien, Jean Grouchy

Journal:

Year:

1984

Language:

english

File:

PDF, 684 KB

english, 1984

25

The proα2 (V) collagen gene (COL5A2) maps to 2q14→2q32, syntenic to the proα1 (III) collagen locus (COL3A1)

Cécile Huerre-Jeanpierre, Isabelle Henry, M. Bernard, Pia Gallano, Dominique Weil, K. H. Grzeschik, F. Ramirez, Claudine Junien

Journal:

Year:

1986

Language:

english

File:

PDF, 374 KB

english, 1986

26

The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific

M. Jeanpierre, Dominique Weil, Pia Gallano, Nicole Creau-Goldberg, Claudine Junien

Journal:

Year:

1985

Language:

english

File:

PDF, 877 KB

english, 1985

27

Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient

Hugues Puissant, Martine Azoulay, Jean-Louis Serre, LucLarget Piet, Claudine Junien

Journal:

Year:

1988

Language:

english

File:

PDF, 424 KB

english, 1988

28

Single base pair germ-line deletion in the p53 gene in a cancer predisposed family

Richard Hamelin, Fernande Barichard, Isabelle Henry, Claudine Junien, Gilles Thomas

Journal:

Year:

1994

Language:

english

File:

PDF, 291 KB

english, 1994

29

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice

Laurent Foiry, Li Dong, Cédric Savouret, Laurence Hubert, Hein te Riele, Claudine Junien, Geneviève Gourdon

Journal:

Year:

2006

Language:

english

File:

PDF, 335 KB

english, 2006

30

Impact of diets and nutrients/drugs on early epigenetic programming

Claudine Junien

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 178 KB

english, 2006

31

A simple and fast method for cell recovery and DNA content analysis from various mouse tissues by flow cytometry

Laurent Foiry, Jérôme Mégret, Claudine Junien, Geneviève Gourdon

Journal:

Year:

2006

Language:

english

File:

PDF, 228 KB

english, 2006

32

Detection of an EcoRI restriction fragment length polymorphism in the gene encoding the human TBP associated factor II 30 (TAFII30)

Valérie Chéhensse, Caroline Boulvin, Sandrine Luce, Lazlo Tora, Claudine Junien, Isabelle Henry

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 265 KB

english, 1997

33

Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation

LEROUX, ALENA, JUNIEN, CLAUDINE, KAPLAN, JEAN-CLAUDE, BAMBERGER, JACQUES

Journal:

Year:

1975

File:

PDF, 251 KB

1975

34

c-Ha-ras1 is not deleted in aniridia–Wilms' tumour association

Huerre, Cécile, Despoisse, Suzy, Gilgenkrantz, Simone, Lenoir, Gilbert M., Junien, Claudine

Journal:

Year:

1983

File:

PDF, 523 KB

1983

35

Genetics of Wilms' tumor: A blend of aberrant development and genomic imprinting

Junien, Claudine, Henry, Isabelle

Journal:

Kidney International

Year:

1994

Language:

english

File:

PDF, 1.77 MB

english, 1994

36

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice

Gourdon, Geneviève, Radvanyi, François, Lia, Anne-Sophie, Duros, Chantal, Blanche, Martine, Abitbol, Marc, Junien, Claudine, Hofmann-Radvanyi, Hlène

Journal:

Nature Genetics

Year:

1997

File:

PDF, 411 KB

1997

37

Reply to “The question of heterogeneity in Marfan syndrome”

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

Journal:

Nature Genetics

Year:

1995

File:

PDF, 222 KB

1995

38

A second locus for Marfan syndrome maps to chromosome 3p24.2–p25

Collod, Gwenaëlle, Babron, Marie-Claude, Jondeau, Guillaume, Coulon, Monique, Weissenbach, Jean, Dubourg, Olivier, Bourdarias, Jean-Pierre, Bonaïti-Pellié, Catherine, Junien, Claudine, Boileau, Cather

Journal:

Nature Genetics

Year:

1994

File:

PDF, 481 KB

1994

39

C57BL/6J and A/J Mice Fed a High-Fat Diet Delineate Components of Metabolic Syndrome

Catherine Gallou-Kabani, Alexandre Vigé, Marie-Sylvie Gross, Jean-Pierre Rabès, Catherine Boileau, Christiane Larue-Achagiotis, Daniel Tomé, Jean-Philippe Jais, Claudine Junien

Journal:

Year:

2007

Language:

english

File:

PDF, 274 KB

english, 2007

40

Changes in WT1 splicing are associated with a specific gene expression profile in Wilms' tumour

Baudry, Dominique, Faussillon, Marine, Cabanis, Marie-Odile, Rigolet, Muriel, Zucker, Jean-Michel, Patte, Catherine, Sarnacki, Sabine, Boccon-Gibod, Liliane, Junien, Claudine, Jeanpierre, Cécile

Journal:

Year:

2002

Language:

english

File:

PDF, 283 KB

english, 2002

41

Genetics of congenital hyperinsulinism

Jean-Christophe Fournet, Claudine Junien

Journal:

Endocrine Pathology

Year:

2004

Language:

english

File:

PDF, 126 KB

english, 2004

42

Beckwith-Wiedemann syndrome, tumourigenesis and imprinting

Claudine Junien

Journal:

Current Biology

Year:

1992

Language:

english

File:

PDF, 113 KB

english, 1992

43

Physical and Genetic Mapping of the Dipeptidase Gene DPEP1 to 16q24.3

Estelle Austruy, Cécile Jeanpierre, Corinne Antignac, Scott A. Whitmore, Nguyen Van Cong, Alain Bernheim, David F. Callen, Claudine Junien

Journal:

Year:

1993

File:

PDF, 209 KB

1993

44

DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice

Céline Guiraud-Dogan, Aline Huguet, Mário Gomes-Pereira, Edith Brisson, Guillaume Bassez, Claudine Junien, Geneviève Gourdon

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2007

Language:

english

File:

PDF, 882 KB

english, 2007

45

Frequent overexpression of cyclin D2/cyclin-dependent kinase 4 in Wilms' tumor

Marine Faussillon, Lucie Monnier, Claudine Junien, Cécile Jeanpierre

Journal:

Year:

2005

Language:

english

File:

PDF, 163 KB

english, 2005

46

Sexual dimorphism in environmental epigenetic programming

Anne Gabory, Linda Attig, Claudine Junien

Journal:

Molecular and Cellular Endocrinology

Year:

2009

Language:

english

File:

PDF, 742 KB

english, 2009

47

Genomics and medicine: an anticipation.

Jean-Claude Kaplan, Claudine Junien

Journal:

Comptes Rendus de l'Académie des Sciences - Series III - Sciences de la Vie

Year:

2000

Language:

french

File:

PDF, 101 KB

french, 2000

48

Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon

Djillali Annane, Marco Fiorelli, Bernard Mazoyer, Sabina Pappata, Bruno Eymard, Hélène Radvanyi, Claudine Junien, Michel Fardeau, Pascal Merlet, Philippe Gajdos, André Syrota, Yves Sansom, Denis Duboc

Journal:

Neuromuscular Disorders

Year:

1998

Language:

english

File:

PDF, 384 KB

english, 1998

49

AFM/MDA 1st International Myotonic Dystrophy Consortium Conference: 30 June–1 July 1997, Paris, France

Geneviève Gourdon, Tetsuo Ashizawa, Claudine Junien

Journal:

Neuromuscular Disorders

Year:

1998

Language:

english

File:

PDF, 49 KB

english, 1998

50

Demonstration of the Recurrence of Marfan-like Skeletal and Cardiovascular Manifestations Due to Germline Mosaicism for an FBN1 Mutation

Gwenaëlle Collod-Béroud, Marilyn Lackmy-Port-Lys, Guillaume Jondeau, Michèle Mathieu, Yves Maingourd, Monique Coulon, Michel Guillotel, Claudine Junien, Catherine Boileau

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 251 KB

english, 1999