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51

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

A. Munnich, A. Fischer, J. M. Saudubray, C. Griscelli, F. X. Coude, H. Ogier, C. Charpentier, J. Frezal

Journal:

Journal of Inherited Metabolic Disease

Year:

1981

Language:

english

File:

PDF, 273 KB

english, 1981

52

Hudson memorial lecture

J. M. Saudubray, H. Ogier, C. Charpentier, E. Depondt, F. X. Coudé, A. Munnich, G. Mitchell, F. Rey, J. Rey, J. Frézal

Journal:

Journal of Inherited Metabolic Disease

Year:

1984

Language:

english

File:

PDF, 838 KB

english, 1984

53

Osteochondrodysplasias, dysostoses, disorders of calcium metabolism, congenital malformations with skeletal involvement mapped on human chromosomes

J. Frézal, M. Le Merrer, M. L. Chauvet

Journal:

Pediatric Radiology

Year:

1997

Language:

english

File:

PDF, 185 KB

english, 1997

54

Autoinfection in wheat leaf rust epidemics

Christian Lannou, Samuel Soubeyrand, Lise Frezal, Joël Chadœuf

Journal:

New Phytologist

Year:

2008

Language:

english

File:

PDF, 301 KB

english, 2008

55

Histochemical Localization of Intestinal Disaccharidases: Application to Peroral Biopsy Specimens

JOS, J., FRÉZAL, J., REY, J., LAMY, M.

Journal:

Year:

1967

File:

PDF, 453 KB

1967

56

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

57

Coreactivation of four inactive X genes in a hamster × human hybrid and persistence of late replication of reactivated X chromosome

M. C. Hors-Cayla, S. Heuertz, J. Frezal

Journal:

Somatic Cell and Molecular Genetics

Year:

1983

Language:

english

File:

PDF, 1.01 MB

english, 1983

58

GENATLAS online

Journal:

Trends in Genetics

Year:

1998

Language:

english

File:

PDF, 117 KB

english, 1998

59

Studies on the Biosynthetic Pathway of Human P Erythrocyte Antigens Using Somatic Cells in Culture

M. Fellous, A. Gerbal, C. Tessier, J. Frezal, J. Dausset, C. Salmon

Journal:

Year:

1974

Language:

english

File:

PDF, 789 KB

english, 1974

60

GENETICS OF HEMOCHROMATOSIS

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

Journal:

Annals of Human Genetics

Year:

1958

Language:

english

File:

PDF, 815 KB

english, 1958

61

Probability of graft compatibility

N. FEINGOLD, J. FEINGOLD, J. FRÉZAL, J. DAUSSET

Journal:

Annals of Human Genetics

Year:

1970

Language:

english

File:

PDF, 338 KB

english, 1970

62

LE NOMBRE DE DERMATOGLYPHES DANS UN ECHANTILLON DE JUMEAUX

PAR MAURICE LAMY, JEAN FRÉZAL, J. de GROUCHY, Et Mme J. KELLEY

Journal:

Annals of Human Genetics

Year:

1957

Language:

french

File:

PDF, 1015 KB

french, 1957

63

MYOPATHIE ET DALTONISME : ANALYSE D'UN PEDIGREE

PAR JEAN FRÉZAL, J. DE GROUCHY, MAURICE LAMY, MME C. POGNAN

Journal:

Annals of Human Genetics

Year:

1957

Language:

french

File:

PDF, 379 KB

french, 1957

64

Regulation in man × man somatic cell hybrids: possible negative control of Arylsulphatase A

M. C. HORS-CAYLA, S. HEUERTZ, J. Y. PICARD, J. FRÉZAL

Journal:

Annals of Human Genetics

Year:

1974

Language:

english

File:

PDF, 584 KB

english, 1974

65

NOMENCLATURE

J.A. White, P.J. McAlpine, S. Antonarakis, H. Cann, J.T. Eppig, K. Frazer, J. Frezal, D. Lancet, J. Nahmias, P. Pearson, J. Peters, A. Scott, H. Scott, N. Spurr, C. Talbot Jr., S. Povey

Journal:

Year:

1997

Language:

english

File:

PDF, 8.35 MB

english, 1997

66

Human Genes Involved in Chromatin Remodeling in Transcription Initiation, and Associated Diseases: An Overview Using the GENATLAS Database

Magali Roux-Rouquie, Marie-Liesse Chauvet, Arnold Munnich, Jean Frezal

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 250 KB

english, 1999

67

Simultaneous meteor radar observations at Monpazier (France, 44°N) and Punta Borinqnen (Puerto Rico, 18°N). III—The latitudinal variations of the energy of gravity waves (2–8 h) in the high mesosphere

M.E. Frezal, M. Glass, J.L. Fellous, M. Massebeuf

Journal:

Journal of Atmospheric and Terrestrial Physics

Year:

1981

Language:

english

File:

PDF, 331 KB

english, 1981

68

Identification du gène responsable des amyotrophies spinales: Perspectives

L Bürglen, J Frézal, A Munnich, J Melki

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 260 KB

1995

69

Les maladies génétiques dans la base de données sur la carte des gènes, le genome interactive databases (GID)

A Munnich, M Le Merrer, ML Chauvet, J Frezal

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 78 KB

1996

70

Problèmes immunologiques dans la maladie cœliaque et l'intolérance au lait de vache chez l'enfant: à propos de 35 cas

J.-A. Lalande, B.-N. Halpern, N.-T. Ky, J. Frézal, J. Rey

Journal:

Revue Française d'Allergie

Year:

1967

File:

PDF, 578 KB

1967

71

Genatlas database, genes and development defects

Journal:

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

Year:

1998

File:

PDF, 1.13 MB

1998

72

Intestinal glycosidase activities in congenitalmalabsorption of disaccbarides

S. Auricchio, A. Rubino, A. Prader, J. Rey, J. Jos, J. Frézal, M. Davidson

Journal:

The Journal of Pediatrics

Year:

1965

Language:

english

File:

PDF, 692 KB

english, 1965

73

A study of hexosaminidases in interspecific hybrids and in GM2 gangliosidosis with a discussion on their genetic control

NGUYEN VAN-CONGX, DOMINIQUE WEIL, RÉGIS REBOURCET, JEAN FRÉZAL, ANNE-MARIE RICHARD-MOLLARD

Journal:

Annals of Human Genetics

Year:

1975

Language:

english

File:

PDF, 1.25 MB

english, 1975

74

Diet-responsive proconvertin (factor VII) deficiency inhomocystinuria

Arnold Munnich, Jean-Marie Saudubray, Marie-Dominique Dautzenberg, Philippe Parvy, H. Ogier, Robert Girot, Patrice Manigne, Jean Frézal

Journal:

The Journal of Pediatrics

Year:

1983

Language:

english

File:

PDF, 427 KB

english, 1983

75

Congenital anomalies in glutaric aciduria type 2

G. Mitchell, J.M. Saudubray, M.C. Gubler, R. Habib, H. Ogier, J. Frezal, J. Boue

Journal:

The Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 86 KB

english, 1984

76

Associated congenital malformations in retinoblastoma

C. Bonaïti-Pellié, M. L. Briard-Guillemot, J. Feingold, J. Frézal

Journal:

Clinical Genetics

Year:

1975

Language:

english

File:

PDF, 161 KB

english, 1975

77

Geographical delimitation of a partial selective sweep in African Drosophila melanogaster

Frezal, L., Meli, F., Mousset, S., Mona, S., Veuille, M.

Journal:

Molecular Ecology

Year:

2012

Language:

english

File:

PDF, 230 KB

english, 2012

78

Chromosomal rearrangements maintain a polymorphic supergene controlling butterfly mimicry

Joron, Mathieu, Frezal, Lise, Jones, Robert T., Chamberlain, Nicola L., Lee, Siu F., Haag, Christoph R., Whibley, Annabel, Becuwe, Michel, Baxter, Simon W., Ferguson, Laura, Wilkinson, Paul A., Salaza

Journal:

Year:

2011

Language:

english

File:

PDF, 950 KB

english, 2011

79

Orsay, Santeuil and Le Blanc viruses primarily infect intestinal cells in Caenorhabditis nematodes

Franz, Carl J., Renshaw, Hilary, Frezal, Lise, Jiang, Yanfang, Félix, Marie-Anne, Wang, David

Journal:

Year:

2014

Language:

english

File:

PDF, 10.82 MB

english, 2014

80

Vascular web

Franz, Carl J., Renshaw, Hilary, Frezal, Lise, Jiang, Yanfang, Félix, Marie-Anne, Wang, David

Journal:

Journal of Vascular Surgery

Year:

2004

File:

PDF, 140 KB

2004

81

XX/XO MOSAICS IN TURNER'S SYNDROME

De Grouchy, J., Lamy, Maurice, Frezal, Jean, Ribier, J.

Journal:

Year:

1961

Language:

english

File:

PDF, 656 KB

english, 1961

82

BERLIN.

De Grouchy, J., Lamy, Maurice, Frezal, Jean, Ribier, J.

Journal:

Year:

1900

Language:

english

File:

PDF, 421 KB

english, 1900

83

GUTHRIE CARDS FOR DETECTION OF POINT MUTATIONS IN PHENYLKETONURIA

Lyonnet, S., Caillaud, C., Rey, F., Berthelon, M., Frezal, J., Rey, J., Munnich, A.

Journal:

Year:

1988

Language:

english

File:

PDF, 245 KB

english, 1988

84

DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIA

Rötig, Agnès, Colonna, Michel, Blanche, Stéphane, Fischer, Alain, Le Deist, Françoise, Frezal, Jean, Saudubray, Jean-Marie, Munnich, Arnold

Journal:

Year:

1988

Language:

english

File:

PDF, 351 KB

english, 1988

85

ANTENATAL DIAGNOSIS OF SEVERE COMBINED IMMUNODEFICIENCY FROM FETAL CORD BLOOD

Durandy, A, Griscelli, C, Dumez, Y, Oury, J.F, Henrion, R, Briard, M.L, Frezal, J

Journal:

Year:

1982

Language:

english

File:

PDF, 301 KB

english, 1982

86

CALCIUM AND GLYCINURIA IN OSTEOMALACIA

Journal:

Year:

1965

Language:

english

File:

PDF, 143 KB

english, 1965

87

DISACCHARIDES IN CŒLIAC DISEASE

Rey, Jean, Frezal, Jean, Jos, Joseph, Lamy, Maurice

Journal:

Year:

1966

Language:

english

File:

PDF, 161 KB

english, 1966

88

FATTY-ACID-RESPONSIVE ALOPECIA IN MULTIPLE CARBOXYLASE DEFICIENCY

Munnich, A., Saudubray, J.M., Coude, F.X., Charpentier, C., Saurat, J.H., Frezal, J.

Journal:

Year:

1980

Language:

english

File:

PDF, 463 KB

english, 1980

89

Localization of the choline acetyltransferase (CHAT) gene to human chromosome 10

Cohen-Haguenauer, Odile, Brice, Alexis, Berrard, Sylvie, Nguyen Van Cong,, Mallet, Jacques, Frézal, Jean

Journal:

Year:

1990

Language:

english

File:

PDF, 1.04 MB

english, 1990

90

Quelques questions à propos du dépistage néonatal et du diagnostic anténatal

Journal:

Immuno-analyse & Biologie Spécialisée

Year:

1992

Language:

french

File:

PDF, 325 KB

french, 1992

91

INTESTINAL DISACCHARIDASE ACTIVITY IN CONGENITAL MALABSORPTION OF SUCROSE AND ISOMALTOSE

Auricchio, S., Rubino, A., Prader, A., Rey, J., Jos, J., Frezal, J.

Journal:

Year:

1964

Language:

english

File:

PDF, 177 KB

english, 1964

92

Results of pilot screening activities in the French neonatal screening program — cystic fibrosis, congenital adrenal hyperplasia and sickle cell disease

Dhondt, J.L., Farriaux, J.P., Briard, M.L., Boschetti, R., Frézal, J.

Journal:

Year:

1993

Language:

english

File:

PDF, 770 KB

english, 1993

93

Neonatal screening in France

Dhondt, J.L., Farriaux, J.P., Briard, M.L., Boschetti, R., Frézal, J.

Journal:

Year:

1993

Language:

english

File:

PDF, 581 KB

english, 1993

94

DEFECTIVE BIOTIN ABSORPTION IN MULTIPLE CARBOXYLASE DEFICIENCY

Munnich, A, Saudubray, J.M, Carré, G, Coude, F.X, Ogier, H, Charpentier, C, Frézal, J

Journal:

Year:

1981

Language:

english

File:

PDF, 150 KB

english, 1981

95

A gene for usher syndrome type I (USH1A) maps to chromosome 14q

Kaplan, J., Gerber, S., Bonneau, D., Rozet, J.M., Delrieu, O., Briard, M.L., Dollfus, H., Ghazi, I., Dufier, J.L., Frézal, J.

Journal:

Year:

1992

Language:

english

File:

PDF, 599 KB

english, 1992

96

A Metric Map of Humans: 23,500 Loci in 850 Bands

A. Collins, J. Frezal, J. Teague and N. E. Morton

Journal:

Proceedings of the National Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 770 KB

english, 1996

97

Local Dispersal of Puccinia triticina and Wheat Canopy Structure

Frezal, Lise, Robert, Corinne, Bancal, Marie-Odile, Lannou, Christian

Journal:

Year:

2009

Language:

english

File:

PDF, 382 KB

english, 2009

98

Autoinfection in Wheat Leaf Rust Epidemics

Christian Lannou, Samuel Soubeyrand, Lise Frezal and Joël Chadœuf

Journal:

New Phytologist

Year:

2008

Language:

english

File:

PDF, 1.45 MB

english, 2008

99

Quantification of the aggressiveness of a foliar pathogen,Colletotrichum gloeosporioides, responsible for water yam (Dioscorea alata) anthracnose

Lise Frézal,Loic Desquilbet,Guy Jacqua…

Journal:

European Journal of Plant Pathology

Year:

2012

Language:

english

File:

PDF, 296 KB

english, 2012

100

CONGENITAL LACTIC ACIDOSIS, α-KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY

MUNNICH, A., SAUDUBRAY, J. M., TAYLOR, J., CHARPENTIER, C., MARSAC, C., ROCCHICCIOLI, F., AMEDEE-MANESME, O., COUDE, F. X., FREZAL, J., ROBINSON, B. H.

Journal:

Acta Paediatrica

Year:

1982

Language:

english

File:

PDF, 347 KB

english, 1982

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