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1

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjm

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 557 KB

english, 2019

2

Nouvelles méthodes d’analyse globale du génome humain

B. Keren, C. Schluth-Bolard, G. Egea, D. Sanlaville

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 177 KB

french, 2010

3

Distal Xq duplication and functional Xq disomy

Damien Sanlaville, Caroline Schluth-Bolard, Catherine Turleau

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 775 KB

english, 2009

4

Replication Timing of Human Telomeres Is Chromosome Arm–Specific, Influenced by Subtelomeric Structures and Connected to Nuclear Localization

Arnoult, Nausica, Schluth-Bolard, Caroline, Letessier, Anne, Drascovic, Irena, Bouarich-Bourimi, Rachida, Campisi, Judith, Kim, Sahn-ho, Boussouar, Amina, Ottaviani, Alexandre, Magdinier, Frédérique,

Journal:

Year:

2010

Language:

english

File:

PDF, 1.74 MB

english, 2010

5

Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences

Marlet, Lyvia, Alix, Eudeline, Till, Marianne, Raskin-Champion, Fabienne, Attia, Jocelyne, Boggio, Dominique, Sanlaville, Damien, Schluth-Bolard, Caroline

Journal:

Cytogenetic and Genome Research

Year:

2017

Language:

english

File:

PDF, 197 KB

english, 2017

6

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Schluth-Bolard, Caroline, Diguet, Flavie, Chatron, Nicolas, Rollat-Farnier, Pierre-Antoine, Bardel, Claire, Afenjar, Alexandra, Amblard, Florence, Amiel, Jeanne, Blesson, Sophie, Callier, Patrick, Cap

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 873 KB

english, 2019

7

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor

Caroline Schluth-Bolard, Damien Sanlaville, Audrey Labalme, Marianne Till, Isabelle Morin, Renaud Touraine, Patrick Edery

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 222 KB

english, 2010

8

Diagnostic prénatal non invasif : de la détermination du sexe fœtal

C. Schluth-Bolard, A. Labalme, D. Sanlaville

Journal:

Revue de médecine périnatale

Year:

2012

Language:

french

File:

PDF, 193 KB

french, 2012

9

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Ant

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 961 KB

english, 2019

10

Mapping of chromosomal balanced rearrangements by whole-genome sequencing identifies genes involved in epilepsy

Masson, J., Diguet, F., Rollat-Farnier, P.A., Mazoyer, S., Lesca, G., Kremer, V., Flori, E., Portnoï, M.F., Siffroi, J.P., Valence, S., Till, M., Edery, P., Sanlaville, D., Schluth-Bolard, C.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

11

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth-Bolard, Bruno Delobel, Damien Sanlaville, Odile Boute, Jean-Marie Cuisset, Sylvie Sukno, Audrey Labalme, Bénédicte Duban-Bedu, Ghislaine Plessis, Sylvie Jaillard, Christèle Dubourg, C

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 138 KB

english, 2009

12

Les tests non invasifs en période prénatale : avantages et limites

Chatron, N., Sanlaville, D., Schluth-Bolard, C.

Journal:

Revue de médecine périnatale

Year:

2016

Language:

french

File:

PDF, 508 KB

french, 2016

13

Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism

Faoucher, M., Putoux, A., Francannet, C., Poulat, A.L., Chatron, N., Aquaviva, C., Labalme, A., Schluth-Bolard, C., Till, M., Saban, C., Desportes, V., Sanlaville, D., Edery, P., Lesca, G.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017

14

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype

Joly, P., Schluth-Bolard, C., Lacan, P., Barro, C., Pissard, S., Labalme, A., Sanlaville, D., Badens, C.

Journal:

Year:

2013

Language:

english

File:

PDF, 36.56 MB

english, 2013

15

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

Masson, Julie, Rossi, Massimiliano, Labalme, Audrey, Till, Marianne, Trost, Detlef, Morin, Isabelle, Schluth-Bolard, Caroline, Sanlaville, Damien

Journal:

Cytogenetic and Genome Research

Year:

2019

Language:

english

File:

PDF, 1.13 MB

english, 2019

16

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

Nadia Boutry-Kryza, Audrey Labalme, Marianne Till, Caroline Schluth-Bolard, Jacques Langue, Catherine Turleau, Patrick Edery, Damien Sanlaville

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 170 KB

english, 2012

17

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 676 KB

english, 2019

18

SFRP-11 – Recherche clinique – Remaniement complexe du chromosome 11 responsable d’un syndrome de Jacobsen et de Beckwith-Wiedemann

A. Putoux, J.M. Andre, M. Till, C. Schluth-Bolard, J. Berard, Y. Bertrand, P. Edery, G. Putet, D. Sanlaville

Journal:

Archives de Pédiatrie

Year:

2008

Language:

french

File:

PDF, 78 KB

french, 2008

19

Dynamics and plasticity of chromosome ends: consequences in human pathologies

Schluth-Bolard, C, Ottaviani, A, Bah, A, Boussouar, A, Gilson, E, Magdinier, F

Journal:

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Year:

2011

Language:

english

File:

PDF, 1.58 MB

english, 2011

20

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

Dery, Tania, Chatron, Nicolas, Alqahtani, Amerh, Pugeat, Michel, Till, Marianne, Edery, Patrick, Sanlaville, Damien, Schluth-Bolard, Caroline, Nicolino, Marc, Lesca, Gaetan, Putoux, Audrey

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 3.09 MB

2020

21

Mosaic variegated aneuploidy syndrome: Case report of two brothers

Dery, Tania, Chatron, Nicolas, Alqahtani, Amerh, Pugeat, Michel, Nicolino, Marc, Till, Marianne, Lesca, Gaetan, Edery, Patrick, Sanlaville, Damien, Schluth-Bolard, Caroline, Putoux, Audrey

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 39 KB

english, 2017

22

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia

Rocas, Delphine, Alix, Eudeline, Michel, Jessica, Cordier, Marie-Pierre, Labalme, Audrey, Guilbert, Hélène, Till, Marianne, Schluth-Bolard, Caroline, de Haas, Pascale, Massardier, Jérôme, Portes, Vinc

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 738 KB

english, 2013

23

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

Demily, Caroline, Poisson, Alice, Peyroux, Elodie, Gatellier, Valérie, Nicolas, Alain, Rigard, Caroline, Schluth-Bolard, Caroline, Sanlaville, Damien, Rossi, Massimiliano

Journal:

BMC Medical Genetics

Year:

2017

Language:

english

File:

PDF, 895 KB

english, 2017

24

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Schluth-Bolard, Caroline, Diguet, Flavie, Chatron, Nicolas, Rollat-Farnier, Pierre-Antoine, Bardel, Claire, Afenjar, Alexandra, Amblard, Florence, Amiel, Jeanne, Blesson, Sophie, Callier, Patrick, Cap

Journal:

Journal of Medical Genetics

Year:

2019

File:

PDF, 873 KB

2019

25

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

Schluth-Bolard, C., Labalme, A., Cordier, M.-P., Till, M., Nadeau, G., Tevissen, H., Lesca, G., Boutry-Kryza, N., Rossignol, S., Rocas, D., Dubruc, E., Edery, P., Sanlaville, D.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 424 KB

english, 2013

26

Complete Human and Rat Ex Vivo Spermatogenesis from Fresh or Frozen Testicular Tissue

Perrard, M.-H., Sereni, N., Schluth-Bolard, C., Blondet, A., Giscard d'Estaing, S., Plotton, I., Morel-Journel, N., Lejeune, H., David, L., Durand, P.

Journal:

Biology of Reproduction

Year:

2016

Language:

english

File:

PDF, 1001 KB

english, 2016

27

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C, Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L I, Hempel, Maja, Haack, Tobias B, Baresic, Anja, Genetti, Casie A, Funari

Journal:

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

28

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy

Putoux, Audrey, Labalme, Audrey, André, Jean-Marie, Till, Marianne, Schluth-Bolard, Caroline, Berard, Jérôme, Bertrand, Yves, Edery, Patrick, Putet, Guy, Sanlaville, Damien

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 509 KB

english, 2013

29

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway

Diala, Irmina, Wagner, Nicole, Magdinier, Frédérique, Shkreli, Marina, Sirakov, Maria, Bauwens, Serge, Schluth-Bolard, Caroline, Simonet, Thomas, Renault, Valérie M, Ye, Jing, Djerbi, Abdelnnadir, Pin

Journal:

Year:

2013

Language:

english

File:

PDF, 683 KB

english, 2013

30

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

Masset, Heleen, Hestand, Matthew S., Van Esch, Hilde, Kleinfinger, Pascale, Plaisancié, Julie, Afenjar, Alexandra, Molignier, Romain, Schluth-Bolard, Caroline, Sanlaville, Damien, Vermeesch, Joris R.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.34 MB

english, 2016

31

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF

Ottaviani, Alexandre, Schluth-Bolard, Caroline, Rival-Gervier, Sylvie, Boussouar, Amina, Rondier, Delphine, Foerster, Andrea M, Morere, Julia, Bauwens, Serge, Gazzo, Sophie, Callet-Bauchu, Evelyne

Journal:

The EMBO Journal

Year:

2009

Language:

english

File:

PDF, 609 KB

english, 2009

32

Syndromes chromosomiques émergents

C. Schluth-Bolard, M. Till, P. Edery, D. Sanlaville

Journal:

Pathologie Biologie

Year:

2008

Language:

french

File:

PDF, 191 KB

french, 2008

33

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

Ottaviani, Alexandre, Schluth-Bolard, Caroline, Gilson, Eric, Magdinier, Frédérique

Journal:

Nucleus (Landes Bioscience)

Year:

2010

Language:

english

File:

PDF, 1.29 MB

english, 2010

34

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: Clinical data and molecular characterization

Caroline Schluth-Bolard, Marianne Till, Azim Rafat, Audrey Labalme, Marc Le Lorc'h, Emmanuelle Banquart, Christelle Angei, Marie-Pierre Cordier, Serge-Pierrick Romana, Patrick Edery, Damien Sanlaville

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 370 KB

english, 2008

35

6q22.1 deletion is associated with epilepsy and abnormal movements

Schluth-Bolard, C., Flamand-Roze, E., Masurel, A., Olivier-Faivre, L., Callier, P., Charles, P., Keren, B., Guillot, N., Labalme, A., Sanlaville, D., Mochel, F., Des Portes, V., Lesca, G.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

36

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Caroline Schluth-Bolard, Damien Sanlaville, Audrey Labalme, Marianne Till, Laurence Michel-Calemard, Azim Rafat, Marie-Thérèse Zabot, Marc Nicolino, Laurent Guibaud, Patrick Edery

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 80 KB

english, 2009

37

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

Pons, Linda, Cordier, Marie Pierre, Labalme, Audrey, Till, Marianne, Louvrier, Camille, Schluth-Bolard, Caroline, Lesca, Gaetan, Edery, Patrick, Sanlaville, Damien

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015

38

TWIST microdeletion identified by array CGH in a patient presenting Saethre–Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

Caroline Schluth-Bolard, Marianne Till, Audrey Labalme, Catherine Rey, Emmanuelle Banquart, Anne Fautrelle, Tanguy Martin-Denavit, Marc Le Lorc'h, Serge Pierrick Romana, Vladimir Lazar, Patrick Edery,

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 883 KB

english, 2008

39

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, Cédric Le Caignec, Chantal Missirian, Sylvie Jaillard, Caroline Schluth-Bolard, Emilie Landais, Odile Boute, Nicole Philip, Annick Toutain, Al

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 610 KB

english, 2011

40

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability

Dimassi, Sarra, Andrieux, Joris, Labalme, Audrey, Lesca, Gaétan, Cordier, Marie-Pierre, Boute, Odile, Neut, Dorothée, Edery, Patrick, Sanlaville, Damien, Schluth-Bolard, Caroline

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 468 KB

english, 2013

41

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 676 KB

2019

42

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choise

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 901 KB

english, 2015

43

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7

Louvrier, Camille, Egea, Grégory, Labalme, Audrey, Des Portes, Vincent, Gazzo, Sophie, Callet-Bauchu, Evelyne, Till, Marianne, Sanlaville, Damien, Edery, Patrick, Schluth-Bolard, Caroline

Journal:

Cytogenetic and Genome Research

Year:

2015

Language:

english

File:

PDF, 284 KB

english, 2015

44

Handbook of Epigenetics || Chromosomal Position Effects and Gene Variegation

Schluth-Bolard, Caroline

Year:

2011

Language:

english

File:

PDF, 848 KB

english, 2011

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