Sanlaville, Damien: search on Z-Library

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1

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Poisson, Alice, Nicolas, Alain, Cochat, Pierre, Sanlaville, Damien, Rigard, Caroline, de Leersnyder, Hélène, Franco, Patricia, Portes, Vincent Des, Edery, Patrick, Demily, Caroline

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

2

Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counselling

Laurent Guibaud, Anne Larroque, Dorothée Ville, Damien Sanlaville, Marianne Till, Pascal Gaucherand, Jean-Pierre Pracros, Vincent des Portes

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 768 KB

english, 2012

3

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome

Stéphanie Marignier, Gaetan Lesca, Jessica Marguin, Gérald Bussy, Damien Sanlaville, Vincent des Portes

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

4

Genetic and neurodevelopmental spectrum of SYNGAP1 -associated intellectual disability and epilepsy

Mignot, Cyril, von Stülpnagel, Celina, Nava, Caroline, Ville, Dorothée, Sanlaville, Damien, Lesca, Gaetan, Rastetter, Agnès, Gachet, Benoit, Marie, Yannick, Korenke, G Christoph, Borggraefe, Ingo, Hof

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.80 MB

english, 2016

5

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Jarvela, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bo

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.34 MB

english, 2008

6

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

7

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

8

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

9

No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients

Laurence Faivre, Michel Vekemans, Damien Sanlaville, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 44 KB

english, 2001

10

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

Damien Sanlaville, François Vialard, François Thépot, Luce Vue-Droy, Azarnouche Ardalan, Patrice Nizard, Alain Corré, Bernard Devauchelle, Tanguy Martin-Denavit, Marc Nouchy, Valérie Malan, Jean-Louis

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 194 KB

english, 2004

11

Beckwith–Wiedemann-like macroglossia and 18q23 haploinsufficiency

Frédéric Lirussi, Laurence Jonard, Véronique Gaston, Damien Sanlaville, R. Frank Kooy, Birgitta Winnepenninckx, Eamonn R. Maher, David R. FitzPatrick, Christine Gicquel, Marie-France Portnoï, Rémy Cou

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 359 KB

english, 2007

12

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

13

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

14

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

Gaetan Lesca, Marianne Till, Audrey Labalme, Dominique Vallee, Catherine Hugonenq, Nicole Philip, Patrick Edery, Damien Sanlaville

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 688 KB

english, 2011

15

Array-CGH study of partial trisomy 9p without mental retardation

Inesse Ben Abdallah Bouhjar, Hanane Hannachi, Soumaya Mougou Zerelli, Audrey Labalme, Abir Gmidène, Najla Soyah, Sonia Missaoui, Damien Sanlaville, Hatem Elghezal, Ali Saad

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 877 KB

english, 2011

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

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1

Estelle Lopez, Patrick Callier, Valérie Cormier-Daire, Didier Lacombe, Anne Moncla, Armand Bottani, Sandy Lambert, Alice Goldenberg, Bérénice Doray, Sylvie Odent, Damien Sanlaville, Lucie Gueneau, Lau

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 303 KB

english, 2012

18

Clinical and molecular overlap in overgrowth syndromes

Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Laurence Colleaux, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2005

Language:

english

File:

PDF, 176 KB

english, 2005

19

Clinical and molecular overlap in overgrowth syndromes

Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Laurence Colleaux, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2006

Language:

english

File:

PDF, 52 KB

english, 2006

20

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

Valérie Malan, Jelena Martinovic, Damien Sanlaville, Stéphanie Caillat, Marie-Christine Perrier Waill, Marie-Laure Maurin Ganne, Julia Tantau, Tania Attie-Bitach, Michel Vekemans, Nicole Morichon-Delv

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 191 KB

english, 2006

21

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene

Laurence Faivre, Thierry Rousseau, Nicole Laurent, Philippe Gosset, Damien Sanlaville, Christel Thauvin-Robinet, Véronica Cusin, Stéphanie Lionnais, Patrick Callier, Philippe Khau Van Kien, Frédéric H

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 90 KB

english, 2004

22

Functional disomy of the Xq28 chromosome region

Sanlaville, Damien, Prieur, Marguerite, de Blois, Marie-Christine, Genevieve, David, Lapierre, Jean-Michel, Ozilou, Catherine, Picq, Monique, Gosset, Philippe, Morichon-Delvallez, Nicole, Munnich, Arn

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

23

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

Sanlaville, Damien, Genevieve, David, Bernardin, Céline, Amiel, Jeanne, Baumann, Clarisse, de Blois, Marie-Christine, Cormier-Daire, Valérie, Gerard, Bénédicte, Gerard, Marion, Le Merrer, Martine

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 123 KB

english, 2005

24

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

Geneviève, David, Héron, Delphine, El Ghouzzi, Vincent, Prost-Squarcioni, Catherine, Le Merrer, Martine, Jacquette, Aurélia, Sanlaville, Damien, Pinton, Florence, Villeneuve, Nathalie, Kalifa, Gabriel

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 302 KB

english, 2005

25

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

Geneviève, David, Sanlaville, Damien, Faivre, Laurence, Kottler, Marie-Laure, Jambou, Marguerite, Gosset, Philippe, Boustani-Samara, Dinane, Pinto, Graziella, Ozilou, Catherine, Abeguilé, Geneviève

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 229 KB

english, 2005

26

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

Redon, Richard, Baujat, Geneviève, Sanlaville, Damien, Le Merrer, Martine, Vekemans, Michel, Munnich, Arnold, Carter, Nigel P, Cormier-Daire, Valérie, Colleaux, Laurence

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 370 KB

english, 2006

27

CHARGE syndrome: an update

Sanlaville, Damien, Verloes, Alain

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 195 KB

english, 2007

28

Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

Joris R. Vermeesch, Paul D. Brady, Damien Sanlaville, Klaas Kok, Rosalind J. Hastings

Journal:

Year:

2012

Language:

english

File:

PDF, 455 KB

english, 2012

29

Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counseling

Laurent Guibaud, Anne Larroque, Dorothée Ville, Damien Sanlaville, Marianne Till, Pascal Gaucherand, Jean-Pierre Pracros, Vincent des Portes

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 39 KB

english, 2012

30

Unusual Clinical Severity of Complement Membrane Cofactor Protein–Associated Hemolytic-Uremic Syndrome and Uniparental Isodisomy

Veronique Fremeaux-Bacchi, Damien Sanlaville, Soraya Menouer, Jacques Blouin, Marie-Agnès Dragon-Durey, Michel Fischbach, Michel Vekemans, Wolf Herman Fridman

Journal:

American Journal of Kidney Diseases

Year:

2007

Language:

english

File:

PDF, 880 KB

english, 2007

31

128: Disruption of ROBO2 is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

Weining Lu, Albertien van Eerde, Xueping Fan, Fabiola Quintero-Rivera, Qing-gang Li, Damien Sanlaville, William Andrews, Vasi Sundaresan, Jacques Giltay, Sally Feather, Adrian Woolf, Yi Rao, Cynthia M

Journal:

American Journal of Kidney Diseases

Year:

2007

Language:

english

File:

PDF, 164 KB

english, 2007

32

Molecular karyotyping in human constitutional cytogenetics

Damien Sanlaville, Jean-Michel Lapierre, Catherine Turleau, Aurélie Coquin, Guntram Borck, Laurence Colleaux, Michel Vekemans, Serge Pierrick Romana

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 261 KB

english, 2005

33

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

Valérie Delague, Myrna Souaid, Eliane Chouery, Danielle Depetris, Damien Sanlaville, Marie-Geneviève Mattei, André Mégarbané

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 294 KB

english, 2006

34

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q

Noëlle Souraty, Damien Sanlaville, Rima Chédid, Marc Le Lorc'h, Marie-Laure Maurin, Lola Ghanem, Sabine Maalouf, Michel Vekemans, André Mégarbané

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 667 KB

english, 2007

35

Pure proximal deletion of chromosome 21 and kyphosis

Boris Keren, Céline Bernardin, Annick Toutain, Delphine Heron, Bernard Fouquet, Béatrice Laudier, Louise Telvi, Serge Pierrick Romana, Michel Vekemans, Damien Sanlaville

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 138 KB

english, 2007

36

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

37

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

38

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

39

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients

Manuel Schiff, Andrée Delahaye, Joris Andrieux, Damien Sanlaville, Catherine Vincent-Delorme, Azzedine Aboura, Brigitte Benzacken, Sonia Bouquillon, Monique Elmaleh-Berges, Audrey Labalme, Sandrine Pa

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 767 KB

english, 2010

40

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Valérie Cormier-Daire, Laurence Colleaux

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 2.07 MB

english, 2004

41

Reply to Salviati et al.

Damien Sanlaville, Capucine Delnatte, Jean-François Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Mi

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 99 KB

english, 2006

42

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

Weining Lu, Albertien M. van Eerde, Xueping Fan, Fabiola Quintero-Rivera, Shashikant Kulkarni, Heather Ferguson, Hyung-Goo Kim, Yanli Fan, Qiongchao Xi, Qing-gang Li, Damien Sanlaville, William Andrew

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 17.80 MB

english, 2007

43

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

44

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Mi

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 283 KB

english, 2006

45

Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

Coutton, Charles, Abada, Farid, Karaouzene, Thomas, Sanlaville, Damien, Satre, Véronique, Lunardi, Joël, Jouk, Pierre-Simon, Arnoult, Christophe, Thierry-Mieg, Nicolas, Ray, Pierre F., Spinner, Nancy

Journal:

Year:

2013

Language:

english

File:

PDF, 1.06 MB

english, 2013

46

Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature

Ben-Abdallah-Bouhjar, Inesse, Mougou-Zerelli, Soumya, Hannachi, Hanene, Ben-Khelifa, Hela, Soyah, Najla, Labalme, Audrey, Sanlaville, Damien, Elghezal, Hatem, Saad, Ali

Journal:

Year:

2013

Language:

english

File:

PDF, 1.10 MB

english, 2013

47

Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation

Ben Khelifa, Hela, Soyah, Najla, Ben-Abdallah-Bouhjar, Inesse, Gritly, Ryma, Sanlaville, Damien, Elghezal, Hatem, Saad, Ali, Mougou-Zerelli, Soumaya

Journal:

Year:

2013

Language:

english

File:

PDF, 981 KB

english, 2013

48

Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia

Ben-Abdallah-Bouhjar, Inesse, Hannachi, Hanene, Labalme, Audrey, Gmidène, Abir, Mougou, Soumaya, Soyah, Najla, Gribaa, Moez, Sanlaville, Damien, Elghezal, Hatem, Saad, Ali

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 469 KB

english, 2012

49

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology

Poulat, Anne-Lise, Lesca, Gaetan, Sanlaville, Damien, Blanchard, Gaelle, Lion-François, Laurence, Rougeot, Christelle, des Portes, Vincent, Ville, Dorothée

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 500 KB

english, 2014

50

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl

Boutry-Kryza, Nadia, Ville, Dorothée, Labalme, Audrey, Calender, Alain, Dupont, Jean-Michel, Touraine, Renaud, Edery, Patrick, des Portes, Vincent, Sanlaville, Damien, Lesca, Gaetan

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 93 KB

english, 2014