S. Vuillaumier-Barrot: search on Z-Library

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1

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

Akiko Yanagisawa, Céline Bouchet, Susana Quijano-Roy, Sandrine Vuillaumier-Barrot, Nigel Clarke, Sylvie Odent, Diana Rodriguez, Norma B. Romero, Makiko Osawa, Tamao Endo, Taratuto Ana Lia, Nathalie Se

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 284 KB

english, 2009

2

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Sabry, S., Vuillaumier-Barrot, S., Mintet, E., Fasseu, M., Valayannopoulos, V., Héron, D., Dorison, N., Mignot, C., Seta, N., Chantret, I., Dupré, T., Moore, S. E. H.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 1.98 MB

english, 2016

3

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

C. Bouchet, S. Vuillaumier-Barrot, M. Gonzales, S. Boukari, C. Le Bizec, C. Fallet, A.-L. Delezoide, H. Moirot, A. Laquerriere, F. Encha-Razavi, G. Durand, N. Seta

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 679 KB

english, 2007

4

Dystonic tremor caused by mutation of the glucose transporter geneGLUT1

Anne Roubergue, Emmanuelle Apartis, Valérie Mesnage, Diane Doummar, Jean-Marc Trocello, Emmanuel Roze, Guillaume Taieb, Thierry Billette De Villemeur, Sandrine Vuillaumier-Barrot, Marie Vidailhet, Ric

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 219 KB

english, 2011

5

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

Footitt, E. J., Karimova, A., Burch, M., Yayeh, T., DuprÃ©, T., Vuillaumier-Barrot, S., Chantret, I., Moore, S. E. H., Seta, N., Grunewald, S.

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 200 KB

english, 2009

6

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

Mathieu Anheim, Elisabeth Maillart, Sandrine Vuillaumier-Barrot, Constance Flamand-Rouvière, Fanny Pineau, Claire Ewenczyk, Florence Riant, Emmanuelle Apartis, Emmanuel Roze

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 128 KB

english, 2011

7

Mutations in SLC2A2 Gene Reveal hGLUT2 Function in Pancreatic Cell Development

Michau, A., Guillemain, G., Grosfeld, A., Vuillaumier-Barrot, S., Grand, T., Keck, M., L'Hoste, S., Chateau, D., Serradas, P., Teulon, J., De Lonlay, P., Scharfmann, R., Brot-Laroche, E., Leturque, A.

Journal:

Journal of Biological Chemistry

Year:

2013

Language:

english

File:

PDF, 4.17 MB

english, 2013

8

Involvement of Renin–Angiotensin System in Pressure–Flow Relationship

Lasocki, Sigismond, Iglarz, Marc, Seince, Pierre-François, Vuillaumier-Barrot, Sandrine, Vicaut, Eric, Henrion, Daniel, Levy, Bernard, Desmonts, Jean-Marie, Philip, Ivan, Bénessiano, Joelle

Journal:

Year:

2002

Language:

english

File:

PDF, 102 KB

english, 2002

9

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

Hiroshi Manya, Céline Bouchet, Akiko Yanagisawa, Sandrine Vuillaumier-Barrot, Susana Quijano-Roy, Yasushi Suzuki, Svetlana Maugenre, Pascale Richard, Toshiyuki Inazu, Luciano Merlini, Norma B. Romero,

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

10

A Case of Progressive Chorea Resulting From GLUT1 Deficiency

Kraoua, Ichraf, Benrhouma, Hanene, Vuillaumier-Barrot, Sandrine, Klaa, Hedia, Youssef-Turki, Ilhem Ben

Journal:

Movement Disorders Clinical Practice

Year:

2015

Language:

english

File:

PDF, 83 KB

english, 2015

11

G.P.2.04. Molecular study of Lissencephaly type II: 52 Families

C. Bouchet-Seraphin, L. Devisme, S. Vuillaumier-Barrot, M. Gonzales, M. Chelbi, C. Le Bizec, F. Encha-Razavi, N. Seta, SOFFOET

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 50 KB

english, 2008

12

Anomalies congénitales de glycosylation

P. de Lonlay, V. Valayannopoulos, T. Dupré, S. Vuillaumier-Barrot, N. Seta

Journal:

Archives de Pédiatrie

Year:

2008

Language:

french

File:

PDF, 255 KB

french, 2008

13

Dystonie paroxystique familiale induite par l’exercice avec hémiplégie alternante de la petite enfance due à une mutation (P.ASP923ASN) ATP1A3

Roubergue, A., Roze, E., Vuillaumier-Barrot, S., Fontenille, M.-J., Méneret, A., Vidailhet, M., Fontaine, B., Doummar, D., Philibert, B., Riant, F., Nicole, S.

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 56 KB

french, 2013

14

Leukocyte Phosphomannomutase Activity in Diagnosis of Congenital Disorder of Glycosylation Ia

Barnier, Anne, DupreÌ, Thierry, Cuer, Maryvonne, Vuillaumier-Barrot, Sandrine, Durand, GenevieÌve, Seta, Nathalie

Journal:

Clinical Chemistry

Year:

2002

File:

PDF, 113 KB

2002

15

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

S. Vuillaumier-Barrot, S. Quijano-Roy, C. Bouchet-Seraphin, S. Maugenre, S. Peudenier, P. Van den Bergh, P. Marcorelles, D. Avila-Smirnow, M. Chelbi, N.B. Romero, R.Y. Carlier, B. Estournet, P. Guiche

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 2.49 MB

english, 2009

16

G.P.2.05 Two new foetal cases of syndrome of Walker–Warburg related to LARGE gene

S. Vuillaumier-Barrot, L. Devisme, C. Bouchet-Seraphin, P. Loget, E. Charluteau, A. Eude-Caye, O. Boute, C. Fallet-Bianco, M.J. Perez, B. Gilbert-Dussardier, M. Gonzales, F. Encha-Razavi, N. Seta

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 50 KB

english, 2008

17

The deletion genotype of the angiotensin I-converting enzyme is associated with an increased vascular reactivity in vivo and in vitro

Daniel Henrion, Joelle Benessiano, Ivan Philip, Sandrine Vuillaumier-Barrot, Marc Iglarz, Gaetan Plantefève, Didier Chatel, Ulrich Hvass, Geneviève Durand, Jean-Marie Desmonts, Philippe Amouyel, Berna

Journal:

Journal of the American College of Cardiology

Year:

1999

Language:

english

File:

PDF, 190 KB

english, 1999

18

The multiple faces of the ATP1A3 -related dystonic movement disorder

Roubergue, Anne, Roze, Emmanuel, Vuillaumier-Barrot, Sandrine, Fontenille, Marie-Joséphine, Méneret, Aurélie, Vidailhet, Marie, Fontaine, Bertrand, Doummar, Diane, Philibert, Bertrand, Riant, Florence

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 192 KB

english, 2013

19

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

Dupre, T., Vuillaumier-Barrot, S., Chantret, I., Yaye, H. S., Le Bizec, C., Afenjar, A., Altuzarra, C., Barnerias, C., Burglen, L., de Lonlay, P., Feillet, F., Napuri, S., Seta, N., Moore, S. E. H.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 609 KB

english, 2010

20

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

Barba, Carmen, Darra, Francesca, Cusmai, Raffaella, Procopio, Elena, Dionisi Vici, Carlo, Keldermans, Liesbeth, Vuillaumier-Barrot, Sandrine, Lefeber, Dirk J, Guerrini, Renzo

Journal:

Developmental Medicine & Child Neurology

Year:

2016

Language:

english

File:

PDF, 916 KB

english, 2016

21

A simple blood test expedites the diagnosis of GLUT1 deficiency syndrome

Gras, D., Cousin, C., Kappeler, C., Auvin, S., Essid, N., Da Costa, L., Hainque, E., Luton, M.P., Petit, V., Vuillaumier-Barrot, S., Boespflug-Tanguy, O., Roze, E., Mochel, F.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

22

Molecular heterogeneity in fetal forms of type II lissencephaly

C. Bouchet, M. Gonzales, S. Vuillaumier-Barrot, L. Devisme, C. Lebizec, E. Alanio, A. Bazin, B. Bessières-Grattagliano, N. Bigi, P. Blanchet, D. Bonneau, M. Bonnières, D. Carles, S. Delahaye, C. Falle

Journal:

Year:

2007

Language:

english

File:

PDF, 245 KB

english, 2007

23

P185 – 1981 Excellent response to ketogenic diet (modified Atkins diet) in a case of alternating hemiplegia of childhood

Roubergue, A, Philibert, B, Gautier, A, Kuster, A, Markowicz, K, Billette de Villemeur, T, Vuillaumier-Barrot, S, Nicole, S, Roze, E, Doummar, D

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 66 KB

english, 2013

24

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib

Vuillaumier-Barrot, S

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 183 KB

english, 2002

25

[JIMD Reports] JIMD Reports - Case and Research Reports, 2012/2 Volume 5 || Expanding the Spectrum of PMM2-CDG Phenotype

Vuillaumier-Barrot, Sandrine

Year:

2012

Language:

english

File:

PDF, 121 KB

english, 2012

26

Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Geneviève Durand, Bernard Grandchamp, Nathalie Seta

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

27

A New Intronic Mutation in the DPM1 Gene Is Associated With a Milder Form of CDG Ie in Two French Siblings

Dancourt, Julia, Vuillaumier-Barrot, Sandrine, de Baulny, Helene Ogier, Sfaello, Ignacio, Barnier, Anne, le Bizec, Christianne, Dupre, Thierry, Durand, Genevieve, Seta, Nathalie, Moore, Stuart E H

Journal:

Pediatric Research

Year:

2006

Language:

english

File:

PDF, 264 KB

english, 2006

28

Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: A pediatric observation

Chambon, Renaud, Vuillaumier-Barrot, Sandrine, Seta, Nathalie, Wagner, Sabrina, Sarret, Catherine

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 748 KB

english, 2013

29

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

Vuillaumier-Barrot, Sandrine, Schiff, Manuel, Mattioli, Francesca, Schaefer, Elise, Dupont, Audrey, Dancourt, Julia, Dupré, Thierry, Couvineau, Alain, de Baulny, Hélène Ogier, de Lonlay, Pascale, Seta

Journal:

Pediatric Research

Year:

2018

Language:

english

File:

PDF, 678 KB

english, 2018

30

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet-Bianco, Philippe Loget, Sylvie Odent, Dominique C

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 375 KB

english, 2012

31

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Hully, Marie, Vuillaumier-Barrot, Sandrine, Le Bizec, Christiane, Boddaert, Nathalie, Kaminska, Anna, Lascelles, Karine, de Lonlay, Pascale, Cances, Claude, des Portes, Vincent, Roubertie, Agathe, Dou

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

32

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Clarke, Nigel F, Maugenre, Svetlana, Vandebrouck, Aurélie, Urtizberea, J Andoni, Willer, Tobias, Peat, Rachel A, Gray, Françoise, Bouchet, Céline, Manya, Hiroshi, Vuillaumier-Barrot, Sandrine

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

33

PMM2 intronic branch-site mutations in CDG-Ia

Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Pascale De Lonlay, Nathalie Madinier-Chappat, Anne Barnier, Thierry Dupré, Geneviève Durand, Nathalie Seta

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 201 KB

english, 2006

34

Syndrome d'hypoglycosylation des glycoprotéines sériques

P. de Lonlay, V. Cormier-Daire, S. Vuillaumier-Barrot, M. Cuer, G. Durand, A. Munnich, J.M. Saudubray, N. Seta

Journal:

Archives de Pédiatrie

Year:

2000

File:

PDF, 1.69 MB

2000

35

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

Romano, S, Bajolle, F, Valayannopoulos, V, Lyonnet, S, Colomb, V, de Barace, C, Vouhe, P, Pouard, P, Vuillaumier-Barrot, S, Dupre, T, de Keyzer, Y, Sidi, D, Seta, N, Bonnet, D, de Lonlay, P

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 91 KB

english, 2009

36

A new insight into PMM2 mutations in the French population

Christiane Le Bizec, Sandrine Vuillaumier-Barrot, Anne Barnier, Thierry Dupré, Geneviève Durand, Nathalie Seta

Journal:

Year:

2005

Language:

english

File:

PDF, 102 KB

english, 2005

37

G894T Polymorphism in the Endothelial Nitric Oxide Synthase Gene Is Associated With an Enhanced Vascular Responsiveness to Phenylephrine

Philip, I., Plantefeve, G., Vuillaumier-Barrot, S., Vicaut, E., LeMarie, C., Henrion, D., Poirier, O., Levy, B. I., Desmonts, J. M., Durand, G., Benessiano, J.

Journal:

Year:

1999

Language:

english

File:

PDF, 359 KB

english, 1999

38

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

Vuillaumier-Barrot, S.

Journal:

Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 134 KB

english, 2000

39

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

Sandrine Vuillaumier-Barrot, Anne Barnier, Maryvonne Cuer, Geneviève Durand, Bernard Grandchamp, Nathalie Seta

Journal:

Year:

1999

Language:

english

File:

PDF, 127 KB

english, 1999

40

The T911C (F304S) substitution in the humanALG6gene is a common polymorphism and not a causal mutation of CDG-Ic

Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Geneviève Durand, Nathalie Seta

Journal:

Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 37 KB

english, 2001

41

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies

S. Vuillaumier-Barrot, C. Bouchet-Seraphin, M. Chelbi, A. Eude-Caye, E. Charluteau, C. Besson, S. Quentin, L. Devisme, C. Le Bizec, P. Landrieu, A. Goldenberg, K. Maincent, P. Loget, O. Boute, B. Gilb

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 452 KB

english, 2011

42

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

Pascole de Lonlay, Maryvonne Cuer, Sandrine Vuillaumier-Barrot, Gaspard Beaune, Pierre Castelnau, Michel Kretz, Geneviève Durand, Jean-Marie Saudubray, Nathalie Seta

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 221 KB

english, 1999

43

Preproendothelin-1 Gene Polymorphism Is Related to a Change in Vascular Reactivity in the Human Mammary Artery In Vitro

Iglarz, M., Benessiano, J., Philip, I., Vuillaumier-Barrot, S., Lasocki, S., Hvass, U., Durand, G., Desmonts, J.-M., Levy, B. I., Henrion, D.

Journal:

Year:

2002

Language:

english

File:

PDF, 334 KB

english, 2002

44

Gènes impliqués dans les alpha-dystroglycanopathies

Bouchet-Séraphin, Céline, Chelbi-Viallon, Malika, Vuillaumier-Barrot, S., Seta, N.

Journal:

médecine/sciences

Year:

2016

Language:

french

File:

PDF, 1.07 MB

french, 2016

45

Absence of Mutation in the SLC2A1 Gene in a Cohort of Patients with Alternating Hemiplegia of Childhood (AHC)

Vuillaumier-Barrot, S., Panagiotakaki, E., Bizec, C. Le, Baba, C. El, Fontaine, B., Arzimanoglou, A., Seta, N., Nicole, S.

Journal:

Neuropediatrics

Year:

2010

Language:

english

File:

PDF, 167 KB

english, 2010

46

Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation

Bruneel, Arnaud, Habarou, Florence, Stojkovic, Tanya, Plouviez, Grégory, Bougas, Laure, Guillemet, Fanny, Brient, Nadine, Henry, Dominique, Dupré, Thierry, Vuillaumier-Barrot, Sandrine, Seta, Nathalie

Journal:

Clinica Chimica Acta

Year:

2017

Language:

english

File:

PDF, 588 KB

english, 2017

47

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

G. Matthijs, E. Schollen, C. Bjursell, A. Erlandson, H. Freeze, F. Imtiaz, S. Kjaergaard, T. Martinsson, M. Schwartz, N. Seta, S. Vuillaumier-Barrot, V. Westphal, B. Winchester

Journal:

Year:

2000

Language:

english

File:

PDF, 345 KB

english, 2000

48

Complementarity of electrophoretic, mass spectrometric and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

Bruneel, Arnaud, Cholet, Sophie, Drouin-Garraud, Valérie, Jacquemont, Marie-Line, Cano, Aline, Mégarbané, André, Ruel, Coralie, Cheillan, David, Dupré, Thierry, Vuillaumier-Barrot, Sandrine, Seta, Nat

Journal:

ELECTROPHORESIS

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

49

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Nadia Léticée, Bettina Bessières-Grattagliano, Thierry Dupré, Sandrine Vuillaumier-Barrot, Pascale de Lonlay, Ferechté Razavi, Nadia El Khartoufi, Yves Ville, Michel Vekemans, Raymonde Bouvier, Nathal

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 519 KB

english, 2010

50

Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: A pediatric observation

Chambon, Renaud, Vuillaumier-Barrot, Sandrine, Seta, Nathalie, Wagner, Sabrina, Sarret, Catherine

Journal:

Movement Disorders

Year:

2013

File:

PDF, 748 KB

2013

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