Schluth, Caroline: search on Z-Library

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1

Prenatal sonographic diagnosis of the 49,XXXXY syndrome

Caroline Schluth, Bérénice Doray, Françoise Girard-Lemaire, Monique Kohler, Bruno Langer, Bernard Gasser, Véronique Lindner, Elisabeth Flori

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 125 KB

english, 2002

2

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

3

Severe haemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann

Journal:

Journal of Thrombosis and Haemostasis

Year:

2019

File:

PDF, 876 KB

2019

4

Comment on “Trisomy 21 noninvasive prenatal testing for twin pregnancies”

Chatron, Nicolas, Raymond, Laure, Schluth‐Bolard, Caroline, Bardel, Claire, Huissoud, Cyril, Nouchy, Marc, Sanlaville, Damien, Massoud, Mona

Journal:

Prenatal Diagnosis

Year:

2019

Language:

english

File:

PDF, 173 KB

english, 2019

5

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

6

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

Caroline Schluth, Roselyne Gesny, Guntram Borck, Richard Redon, Véronique Abadie, Pascale Kleinfinger, Arnold Munnich, Stanislas Lyonnet, Laurence Colleaux

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 133 KB

english, 2008

7

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

8

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

9

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

10

Mosaic trisomy 13 on chorionic villi in a fetus with body wall complex: fortuitous association or pathogenic hypothesis?

Bérénice Doray, Brigitte Viville, Yasmina Touret, Bernard Gasser, Brigitte Samama, Nelly Boehm, Françoise Girard-Lemaire, Caroline Schluth, Elisabeth Flori

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

11

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

12

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

Flori, Elisabeth, Girodon, Emmanuelle, Samama, Brigitte, Becmeur, François, Viville, Brigitte, Girard-Lemaire, Françoise, Doray, Bérénice, Schluth, Caroline, Marcellin, Luc, Boehm, Nelly

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 110 KB

english, 2005

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

Handbook of Epigenetics || Chromosomal Position Effects and Gene Variegation

Schluth-Bolard, Caroline

Year:

2011

Language:

english

File:

PDF, 848 KB

english, 2011

32

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

33

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

34

Severe haemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann

Journal:

Journal of Thrombosis and Haemostasis

Year:

2019

Language:

english

File:

PDF, 876 KB

english, 2019

35

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

36

Comment on “Trisomy 21 noninvasive prenatal testing for twin pregnancies”

Chatron, Nicolas, Raymond, Laure, Schluth‐Bolard, Caroline, Bardel, Claire, Huissoud, Cyril, Nouchy, Marc, Sanlaville, Damien, Massoud, Mona

Journal:

Prenatal Diagnosis

Year:

2019

File:

PDF, 173 KB

2019

37

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

38

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

39

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

40

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