L. Burglen: search on Z-Library

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1

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

David Cohen, Nadège Pichard, Sylvie Tordjman, Clarisse Baumann, Lydie Burglen, Elsa Excoffier, Gabriela Lazar, Philippe Mazet, Clément Pinquier, Alain Verloes, Delphine Héron

Journal:

Journal of Autism and Developmental Disorders

Year:

2005

Language:

english

File:

PDF, 280 KB

english, 2005

2

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

Remerand, Ganaelle, Boespflug‐Tanguy, Odile, Tonduti, Davide, Touraine, Renaud, Rodriguez, Diana, Curie, Aurore, Perreton, Nathalie, Des Portes, Vincent, Sarret, Catherine, Afenjar, Alexandra, Burglen

Journal:

Developmental Medicine & Child Neurology

Year:

2019

Language:

english

File:

PDF, 671 KB

english, 2019

3

Impaired strategic regulation of contents of conscious awareness in schizophrenia

Philippe Sonntag, Erick Gokalsing, Carinne Olivier, Philippe Robert, Franck Burglen, Françoise Kauffmann-Muller, Caroline Huron, Pierre Salame, Jean-Marie Danion

Journal:

Consciousness and Cognition

Year:

2003

Language:

english

File:

PDF, 108 KB

english, 2003

4

Differential disruptions of working memory components in schizophrenia in an object–location binding task using the suppression paradigm

SALAMÉ, PIERRE, BURGLEN, FRANCK, DANION, JEAN-MARIE

Journal:

Journal of the International Neuropsychological Society

Year:

2006

Language:

english

File:

PDF, 114 KB

english, 2006

5

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Gicquel, Christine, Rossignol, Sylvie, Cabrol, Sylvie, Houang, Muriel, Steunou, Virginie, Barbu, Véronique, Danton, Fabienne, Thibaud, Nathalie, Merrer, Martine Le, Burglen, Lydie

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 332 KB

english, 2005

6

33. Deutscher Anwaltstag in Augsburg

Journal:

JuristenZeitung

Year:

1965

Language:

german

File:

PDF, 657 KB

german, 1965

7

Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

J. M. Levaillant, D. Moeglin, K. Zouiten, M. Bucourt, L. Burglen, V. Soupre, C. Baumann, M. L. Jaquemont, R. Touraine, A. Picard, E. Vuillard, N. Belarbi, J. F. Oury, A. Verloes, M. P. Vazquez, P. Lab

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 341 KB

english, 2009

8

Clinical expression of Menkes disease in females with normal karyotype

Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeyne

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 204 KB

english, 2012

9

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Darmency-Stamboul, Véronique, Burglen, Lydie, Lopez, Estelle, Mejean, Nathalie, Dean, John, Franco, Brunella, Rodriguez, Diana, Lacombe, Didier, Desguerres, Isabelle, Cormier-Daire, Valérie, Doray, Bé

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

10

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

Thauvin-Robinet, C, Thomas, S, Sinico, M, Aral, B, Burglen, L, Gigot, N, Dollfus, H, Rossignol, S, Raynaud, M, Philippe, C, Badens, C, Touraine, R, Gomes, C, Franco, B, Lopez, E, Elkhartoufi, N, Faivr

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 673 KB

english, 2013

11

Spectrum of pontocerebellar hypoplasia in 13 girls and boys withCASKmutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine I

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 949 KB

english, 2012

12

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes

Valence, Stéphanie, Garel, Catherine, Barth, Magalie, Toutain, Annick, Paris, Caroline, Amsallem, Daniel, Barthez, Marie-Anne, Mayer, Michèle, Rodriguez, Diana, Burglen, Lydie

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 448 KB

english, 2016

13

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

Passemard, S., Titomanlio, L., Elmaleh, M., Afenjar, A., Alessandri, J. -L., Andria, G., de Villemeur, T. B., Boespflug-Tanguy, O., Burglen, L., Del Giudice, E., Guimiot, F., Hyon, C., Isidor, B., Meg

Journal:

Year:

2009

Language:

english

File:

PDF, 429 KB

english, 2009

14

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, N

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.06 MB

english, 2013

15

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Valérie Cormier-Daire, Nathalie Dagoneau, Rima Nabbout, Lydie Burglen, Clotilde Penet, Christine Soufflet, Isabelle Desguerre, Arnold Munnich, Olivier Dulac

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 745 KB

english, 2000

16

Extremely severe vermis hypoplasia: a good clue for pontocerebellar hypoplasia type 8 diagnosis

Haye, D., Perrin, L., Valence, S., Rodriguez, D., Burglen, L.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

17

Early neurological phenotype in 4 children with biallelic PRODH mutations

Alexandra Afenjar, Marie-Laure Moutard, Diane Doummar, Agnés Guët, Daniel Rabier, Anne-Isabelle Vermersch, Cyril Mignot, Lydie Burglen, Delphine Heron, Elizabeth Thioulouse, Thierry Billette de Villem

Journal:

Brain and Development

Year:

2007

Language:

english

File:

PDF, 114 KB

english, 2007

18

Action of toyocamycin on nucleolar fine structure and function

A. Monneron, J. Burglen, W. Bernhard

Journal:

Journal of Ultrastructure Research

Year:

1970

Language:

english

File:

PDF, 20.37 MB

english, 1970

19

Approche moléculaire d'une dégénérescence du motoneurone spinal : les maladies de Werdnig-Hoffmann et de Kugelberg-Welander

Bertrandy, Solange, Lefebvre, Suzie, Burlet, Philippe, Bürglen, Lydie, Clermont, Olivier, Viollet, Louis, Munnich, Arnold, Melki, Judith

Journal:

Annales de l'Institut Pasteur / Actualités

Year:

1996

File:

PDF, 573 KB

1996

20

Die reaktivitätsabstufung von trimethylsiloxygruppen gegenüber dem Hydrozirconierungsreagenz Cp2Zr(H)Cl

E. Uhlig, B. Bürglen, C. Krüger, P. Betz

Journal:

Journal of Organometallic Chemistry

Year:

1990

File:

PDF, 796 KB

1990

21

Reaktion der Trimethylsilylether von Olefinalkoholen mit Schwartzschem Reagenz – Stabilisierung cyclischer zirconiumorganischer Verbindungen durch den Rumpf Cp2ZrH2

DC B. Bürglen, Prof. Dr. E. Uhlig

Journal:

Zeitschrift für anorganische und allgemeine Chemie

Year:

1990

File:

PDF, 537 KB

1990

22

Twenty-five novel mutations including duplications in the ATP7A gene

M-P Moizard, N Ronce, S Blesson, E Bieth, L Burglen, C Mignot, I Mortemousque, N Marmin, B Dessay, C Danesino, F Feillet, P Castelnau, A Toutain, C Moraine, M Raynaud

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 644 KB

english, 2011

23

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases

Blondiaux, Eléonore, Valence, Stéphanie, Friszer, Stéphanie, Rodriguez, Diana, Burglen, Lydie, Ducou le Pointe, Hubert, Blouet, Marie, Garel, Catherine

Journal:

Fetal Diagnosis and Therapy

Year:

2017

Language:

english

File:

PDF, 265 KB

english, 2017

24

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P)

Claude Houdayer, Catherine Bonaïti-Pellié, Caroline Erguy, Véronique Soupre, Marie-Gabrielle Dondon, Lydie Bürglen, Emmanuel Cougoureux, Rémy Couderc, Marie-Paule Vazquez, Michel Bahuau

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 203 KB

english, 2001

25

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

Pascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, Virginie Czernecki, Nathalie Drouot, Emmanuelle Apartis, Lydie Bürglen, Thierry Frebourg, Emmanuel Roze

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 195 KB

english, 2010

26

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy

Thierry Bienvenu, Isabelle Souville, Karine Poirier, Cécile Aquaviva, Lydie Burglen, Jeanne Amiel, Bénédicte Héron, Anna Kaminska, Philippe Couvert, Cherif Beldjord, Jamel Chelly

Journal:

Year:

2001

Language:

english

File:

PDF, 21 KB

english, 2001

27

Zum Verhalten ungesättigter Trimethylsilylether gegenüber dem Hydrozirconierungsreagens Cp2Zr(H)Cl

Beate Bürglen, Egon Uhlig

Journal:

Zeitschrift für Chemie

Year:

1988

Language:

german

File:

PDF, 251 KB

german, 1988

28

Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene

Denier, Christian, Balu, Laurent, Husson, Béatrice, Nasser, Ghaidaa, Burglen, Lydie, Rodriguez, Diana, Labauge, Pierre, Chevret, Laurent

Journal:

Journal of the Neurological Sciences

Year:

2014

Language:

english

File:

PDF, 543 KB

english, 2014

29

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Burlet, P, Burglen, L, Clermont, O, Lefebvre, S, Viollet, L, Munnich, A, Melki, J

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 573 KB

english, 1996

30

Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Tunisian Boy

Tinsa, F., Farid, O., Douira, W., Rodriguez, D., Burglen, L., Boussetta, K., Bousnina, S.

Journal:

Journal of Child Neurology

Year:

2009

Language:

english

File:

PDF, 213 KB

english, 2009

31

DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility

Fiévet, Alice, Bellanger, Dorine, Zahed, Laila, Burglen, Lydie, Derrien, Anne‐Céline, Dubois d'Engien, Catherine, Lespinasse, James, Parfait, Béatrice, Pedespan, Jean‐Michel, Rieunier, Guillaume, Stop

Journal:

Year:

2019

Language:

english

File:

PDF, 642 KB

english, 2019

32

Dysplasies oto-mandibulaires : génétique et nomenclature des formes syndromiques

L Burglen, V Soupre, P.A Diner, M Gonzalès, M.-P Vazquez

Journal:

Annales de Chirurgie Plastique Esthétique

Year:

2001

Language:

french

File:

PDF, 362 KB

french, 2001

33

Ataxies cérébelleuses congénitales

Journal:

Revue Neurologique

Year:

2014

Language:

french

File:

PDF, 88 KB

french, 2014

34

MFN2, a new gene responsible for mitochondrial DNA depletion

Renaldo, F., Amati-Bonneau, P., Slama, A., Romana, C., Forin, V., Doummar, D., Barnerias, C., Bursztyn, J., Mayer, M., Khouri, N., Billette de Villemeur, T., Burglen, L., Reynier, P., Bernabe Gelot, A

Journal:

Year:

2012

Language:

english

File:

PDF, 360 KB

english, 2012

35

New insights in genetic diagnosis of congenital/very early-onset ataxia using new-generation sequencing

Burglen, L., Haye, D., Valence, S., Afenjar, A., Chantot-Bastaraud, S., Rougeot, C., Riquet, A., Garel, C., Rodriguez, D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017

36

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

Sylvie Jaillard, Séverine Drunat, Claude Bendavid, Azzedine Aboura, Amandine Etcheverry, Hubert Journel, Andrée Delahaye, Laurent Pasquier, Dominique Bonneau, Annick Toutain, Lydie Burglen, Agnès Guic

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 1.00 MB

english, 2010

37

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

38

Diagnostic approach and therapeutic management of children affected by congenital cerebellar disorders

Belleville Goffeney, J., Paris, C., Bernard, E., Boucher, E., Billon Grand, N.C., Pastor Harper, D., Ridley, A., Burglen, L., Amsallem, D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017

39

Earlyâonset Nucleotide Excision Repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling

Baer, Sarah, Obringer, Cathy, Julia, Sophie, Chelly, Jameleddine, Capri, Yline, Gras, Domitille, Baujat, GeneviÃ¨ve, Felix, TÃªmis Maria, Doray, Berenice, Pozo, Jaime Sanchez, Ramos, Lina M., Burglen,

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 1.73 MB

2020

40

Congenital immobility and stiffness related to biallelic ATAD1 variants

Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, MichÃ¨le, Rodriguez, Diana, Burglen, Lydie, LÃ©ger, Pierre-Louis,

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 363 KB

2020

41

Spectrum of epilepsy in terminal 1p36 deletion syndrome

Nadia Bahi-Buisson, Eva Guttierrez-Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier Daire, Didier Lacombe, Delphine Héron, Alain Verloes, Sameer Zuberi, Lydie Burglen, Alexandra Afenjar, Mar

Journal:

Year:

2008

Language:

english

File:

PDF, 380 KB

english, 2008

42

O52 – 2063 Spectrum of cerebellar and anterior horn cell degeneration caused by EXOSC3 mutations

Burglen, L, Nguyen, S, Cances, C, Cuisset, JM, Julia, S, Metreau, J, Lion-François, L, Legall, A, Amsallem, D, Gelot, A, Billette de Villemeur, T, Rodriguez, D

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

43

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

Mignot, Cyril, Héron, Delphine, Bursztyn, Joseph, Momtchilova, Marta, Mayer, Michèle, Whalen, Sandra, Legall, Anne, Billette de Villemeur, Thierry, Burglen, Lydie

Journal:

Brain and Development

Year:

2013

Language:

english

File:

PDF, 552 KB

english, 2013

44

Délétion du gène SMN dans l'association arthrogrypose-amyotrophie spinale infantile

L Bürglen, J Amiel, L Viollet, S Lefebre, L Burlet, O Clermont, V Raclin, P Landrieu, A Verloes, A Munnich, J Melki

Journal:

Archives de Pédiatrie

Year:

1997

File:

PDF, 124 KB

1997

45

High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis: Potential Epistatic Effect of NPHP6 and AHI1 Mutations in Patients with NPHP1 Mutations

Tory, K., Lacoste, T., Burglen, L., Moriniere, V., Boddaert, N., Macher, M.-A., Llanas, B., Nivet, H., Bensman, A., Niaudet, P., Antignac, C., Salomon, R., Saunier, S.

Journal:

Journal of the American Society of Nephrology

Year:

2007

Language:

english

File:

PDF, 203 KB

english, 2007

46

Characterisation of novel point mutations in the survival motor neuron geneSMN, in three patients with SMA

Leigh Skordis, Matthew Dunckley, Lydia Burglen, Louise Campbell, Kevin Talbot, Shobna Patel, Judith Melki, Kay Davies, Victor Dubowitz, Francesco Muntoni

Journal:

Year:

2001

Language:

english

File:

PDF, 32 KB

english, 2001

47

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

Sandra Chantot-Bastaraud, Christine Muti, Eva Pipiras, Marie Claude Routon, Anne Roubergue, Lydie Burglen, Jean Pierre Siffroi, Brigitte Simon-Bouy

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 268 KB

english, 2004

48

Phénotype clinique reconnaissable des neurodegeneration with brain iron accumulation (NBIA) liées aux mutations du gène C19ORF12

Afenjar, A., Billette De Villemeur, T., Chabrol, B., Gras, D., Legall, A., Mochel, F., Sedel, F., Rodriguez, D., Burglen, L.

Journal:

Archives de Pédiatrie

Year:

2013

File:

PDF, 78 KB

2013

49

Síndrome Schinzel-Giedion: nueva mutación en SETBP1

López-González, V., Domingo-Jiménez, M.R., Burglen, L., Ballesta-Martínez, M.J., Whalen, S., Piñero-Fernández, J.A., Guillén-Navarro, E.

Journal:

Anales de Pediatría

Year:

2015

File:

PDF, 1.06 MB

2015

50

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

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