Works by Malan, Valérie

Results: 46

Efficiency of prenatal diagnosis in Pierre Robin sequence.

Published in:

2017

By:

Di Pasquo, Elvira;
Amiel, Jeanne;
Roth, Philippe;
Malan, Valérie;
Lind, Katia;
Chalouhi, Christel;
Soupre, Véronique;
Gordon, Christopher T.;
Lyonnet, Stanislas;
Salomon, Laurent J.;
Abadie, Véronique;
Malan, Valérie;
Soupre, Véronique;
Abadie, Véronique

Publication type:

journal article

22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Published in:

Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0212-9

By:

Laura, Ponson;
Marie, Gomot;
Romuald, Blanc;
Catherine, Barthelemy;
Sylvie, Roux;
Arnold, Munnich;
Serge, Romana;
Nadia, Aguillon-Hernandez;
Valérie, Malan;
Frédérique, Bonnet-Brilhault

Publication type:

Article

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63580

By:

Bensaid, Souad;
Bendahmane, Malika;
Loddo, Sara;
Poke, Gemma;
Januel, Louis;
Nicolle, Romain;
Malan, Valérie;
Chatron, Nicolas;
Ottombrino, Silvia;
Dentici, Maria Lisa;
Novelli, Antonio;
Digilio, Maria Cristina;
Sanlaville, Damien

Publication type:

Article

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989

By:

Ranza, Emmanuelle;
Le Gouez, Morgane;
Guimier, Anne;
Dunlop, Naziha Khen;
Beaudoin, Sylvie;
Malan, Valérie;
Michot, Caroline;
Baujat, Geneviève;
Rio, Marlène;
Cormier‐Daire, Valérie;
Abadie, Véronique;
Sarnacki, Sabine;
Delacourt, Christophe;
Lyonnet, Stanislas;
Attié‐Bitach, Tania;
Pingault, Véronique;
Rousseau, Véronique;
Amiel, Jeanne

Publication type:

Article

FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.

Published in:

Cardiology in the Young, 2013, v. 23, n. 5, p. 697, doi. 10.1017/S1047951112001904

By:

Laux, Daniela;
Malan, Valérie;
Bajolle, Fanny;
Boudjemline, Younes;
Amiel, Jeanne;
Bonnet, Damien

Publication type:

Article

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 620, doi. 10.1111/cge.13840

By:

Tessier, Aude;
Boutaud, Lucile;
Bruel, Ange‐Line;
Thauvin‐Robinet, Christel;
Roth, Philippe;
Malan, Valérie;
Beaujard, Marie‐Paule;
Achaiaa, Amale;
Oliveira, Judite;
Steffann, Julie;
Encha‐Razavi, Ferechte;
Faivre, Laurence;
Bessières, Bettina;
Attié‐Bitach, Tania

Publication type:

Article

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230

By:

El Khattabi, Laïla;
Guimiot, Fabien;
Pipiras, Eva;
Andrieux, Joris;
Baumann, Clarisse;
Bouquillon, Sonia;
Delezoide, Anne-Lise;
Delobel, Bruno;
Demurger, Florence;
Dessuant, Hélène;
Drunat, Séverine;
Dubourg, Christelle;
Dupont, Céline;
Faivre, Laurence;
Holder-Espinasse, Muriel;
Jaillard, Sylvie;
Journel, Hubert;
Lyonnet, Stanislas;
Malan, Valérie;
Masurel, Alice

Publication type:

Article

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140

By:

Philippe, Orianne;
Rio, Marlène;
Malan, Valérie;
Van Esch, Hilde;
Baujat, Geneviève;
Bahi-Buisson, Nadia;
Valayannopoulos, Vassili;
Gesny, Roseline;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Froyen, Guy;
Amiel, Jeanne;
Boddaert, Nathalie;
Colleaux, Laurence

Publication type:

Article

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 602, doi. 10.1038/ejhg.2010.225

By:

Cognet, Marie;
Nougayrede, Agnés;
Malan, Valérie;
Callier, Patrick;
Cretolle, Celia;
Faivre, Laurence;
Genevieve, David;
Goldenberg, Alice;
Heron, Delphine;
Mercier, Sandra;
Philip, Nicole;
Sigaudy8, Sabine;
Verloes, Alain;
Sarnacki, Sabine;
Munnich, Arnold;
Vekemans, Michel;
Lyonnet, Stanislas;
Etchevers, Heather;
Amiel, Jeanne;
de Pontual, Loïc

Publication type:

Article

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159

By:

Rio, Marlène;
Malan, Valérie;
Boissel, Sarah;
Toutain, Annick;
Royer, Ghislaine;
Gobin, Stéphanie;
Morichon-Delvallez, Nicole;
Turleau, Catherine;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Vekemans, Michel;
Colleaux, Laurence

Publication type:

Article

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162

By:

Malan, Valérie;
Chevallier, Suzanne;
Soler, Gwendoline;
Coubes, Christine;
Lacombe, Didier;
Pasquier, Laurent;
Soulier, Jean;
Morichon-Delvallez, Nicole;
Turleau, Catherine;
Munnich, Arnold;
Romana, Serge;
Vekemans, Michel;
Cormier-Daire, Valérie;
Colleaux, Laurence

Publication type:

Article

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200

By:

Huber, Céline;
Delezoide, Anee-Lise;
Guimiot, Fabien;
Baumann, Clarisse;
Malan, Valérie;
Le Merrer, Martine;
Da Silva, Daniela Bezerra;
Bonneau, Dominique;
Chatelain, Pierre;
Chu, Carol;
Clark, Robin;
Cox, Helen;
Edery, Patrick;
Edouard, Thomas;
Fano, Virginia;
Gibson, Kate;
Gillessen-Kaesbach, Gabriele;
Maria-Luisa Giovannucci-Uzielli;
Graul-Neumann, Luitgard Margarete;
van Hagen, Johana-Maria

Publication type:

Article

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01831-5

By:

Brakta, Charlyne;
Tabet, Anne-Claude;
Puel, Mathilde;
Pacault, Mathilde;
Stolzenberg, Marie-Claude;
Goudet, Claire;
Merger, Marguerite;
Reumaux, Héloïse;
Lambert, Nathalie;
Alioua, Najiba;
Malan, Valérie;
Hanein, Sylvain;
Dupin-Deguine, Delphine;
Treiner, Emmanuel;
Lefèvre, Guillaume;
Farhat, Méryem-Maud;
Luca, Luminita Elena;
Hureaux, Marguerite;
Li, Hailun;
Chelloug, Nora

Publication type:

Article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262

By:

Koolen, David A;
Kramer, Jamie M;
Neveling, Kornelia;
Nillesen, Willy M;
Moore-Barton, Heather L;
Elmslie, Frances V;
Toutain, Annick;
Amiel, Jeanne;
Malan, Valérie;
Tsai, Anne Chun-Hui;
Cheung, Sau Wai;
Gilissen, Christian;
Verwiel, Eugene T P;
Martens, Sarah;
Feuth, Ton;
Bongers, Ernie M H F;
de Vries, Petra;
Scheffer, Hans;
Vissers, Lisenka E L M;
de Brouwer, Arjan P M

Publication type:

Article

Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Published in:

Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0435-4

By:

Ponson, Laura;
Gomot, Marie;
Blanc, Romuald;
Barthelemy, Catherine;
Roux, Sylvie;
Munnich, Arnold;
Romana, Serge;
Aguillon-Hernandez, Nadia;
Malan, Valérie;
Bonnet-Brilhault, Frédérique

Publication type:

Article

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01582-z

By:

Nicolle, Romain;
Altin, Nami;
Siquier-Pernet, Karine;
Salignac, Sherlina;
Blanc, Pierre;
Munnich, Arnold;
Bole-Feysot, Christine;
Malan, Valérie;
Caron, Barthélémy;
Nitschké, Patrick;
Desguerre, Isabelle;
Boddaert, Nathalie;
Rio, Marlène;
Rausell, Antonio;
Cantagrel, Vincent

Publication type:

Article

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.

Published in:

Cytogenetic & Genome Research, 2017, v. 151, n. 3, p. 115, doi. 10.1159/000460278

By:

Maurin, Marie-Laure;
arfeuille, Chloé;
Sonigo, Pascale;
Rondeau, Sophie;
Vekemans, Michel;
Turleau, Catherine;
Ville, Yves;
Malan, Valérie

Publication type:

Article

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.

Published in:

Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 103, doi. 10.1159/000442904

By:

Malan, Valérie;
Lapierre, Jean-Michel;
Egloff, Matthieu;
Goidin, Didier;
Beaujard, Marie-Paule;
Maurin, Marie-Laure;
attié-Bitach, Tania;
Bessières, Bettina;
Bernard, Jean-Pierre;
Roth, Philippe;
Stirnemann, Julien;
Salomon, Laurent;
Romana, Serge;
Vekemans, Michel;
Ville, Yves;
Turleau, Catherine

Publication type:

Article

Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome.

Published in:

JAMA Network Open, 2019, v. 2, n. 3, p. e191062, doi. 10.1001/jamanetworkopen.2019.1062

By:

Seror, Valerie;
L'Haridon, Olivier;
Bussières, Laurence;
Malan, Valérie;
Fries, Nicolas;
Vekemans, Michel;
Salomon, Laurent J.;
Ville, Yves

Publication type:

Article

Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders.

Published in:

Arthritis & Rheumatology, 2014, v. 66, n. 9, p. 2621, doi. 10.1002/art.38727

By:

Jéru, Isabelle;
Cochet, Emmanuelle;
Duquesnoy, Philippe;
Hentgen, Véronique;
Copin, Bruno;
Mitjavila‐Garcia, Maria Teresa;
Sheykholeslami, Shayan;
Le Borgne, Gaëlle;
Dastot‐Le Moal, Florence;
Malan, Valérie;
Karabina, Sonia;
Mahevas, Mathieu;
Chantot‐Bastaraud, Sandra;
Lecron, Jean‐Claude;
Faivre, Laurence;
Amselem, Serge

Publication type:

Article

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder.

Published in:

BMC Psychiatry, 2015, v. 15, p. 1, doi. 10.1186/s12888-015-0631-6

By:

Philippe, Anne;
Craus, Yann;
Rio, Marlène;
Bahi-Buisson, Nadia;
Boddaert, Nathalie;
Malan, Valérie;
Bonnefont, Jean-Paul;
Robel, Laurence

Publication type:

Article

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

Published in:

Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0284-2

By:

Munnich, Arnold;
Demily, Caroline;
Frugère, Lisa;
Duwime, Charlyne;
Malan, Valérie;
Barcia, Giulia;
Vidal, Céline;
Throo, Emeline;
Besmond, Claude;
Hubert, Laurence;
Roland-Manuel, Gilles;
Malen, Jean-Pierre;
Ferreri, Mélanie;
Hanein, Sylvain;
Thalabard, Jean-Christophe;
Boddaert, Nathalie;
Assouline, Moïse

Publication type:

Article

High frequency of x chromosome abnormalities in women with short stature and elevated liver enzymes.

Published in:

2014

By:

Roulot, Dominique;
Malan, Valérie;
Ziol, Marianne;
Linglart, Agnès;
Bourcier, Valérie;
Beaugrand, Michel;
Benzacken, Brigitte

Publication type:

Journal Article

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis.

Published in:

Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 178, doi. 10.1159/000369117

By:

Egloff, Matthieu;
Encha-Razavi, Ferechte;
Garel, Catherine;
Bonnière-Darcy, Maryse;
Millischer, anne-Elodie;
Lapierre, Jean-Michel;
Fontaine, Sophie;
de Blois, Marie-Christine;
Vekemans, Michel;
Turleau, Catherine;
Ville, Yves;
Malan, Valérie

Publication type:

Article

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Published in:

2019

By:

Hureaux, Marguerite;
Ben Miled, Selima;
Chatron, Nicolas;
Coussement, Aurelie;
Bessières, Bettina;
Egloff, Matthieu;
Mechler, Charlotte;
Stirnemann, Julien;
Tsatsaris, Vassilis;
Barcia, Giulia;
Turleau, Catherine;
Ville, Yves;
Encha‐Razavi, Ferechte;
Attie‐Bitach, Tania;
Malan, Valérie;
Encha-Razavi, Ferechte;
Attie-Bitach, Tania

Publication type:

journal article

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Published in:

2019

By:

Guterman, Sarah;
Beneteau, Claire;
Redon, Sylvia;
Dupont, Céline;
Missirian, Chantal;
Jaeger, Pauline;
Herve, Berenice;
Jacquin, Clémence;
Douet‐Guilbert, Nathalie;
Till, Marianne;
Tabet, Anne‐Claude;
Moradkhani, Kamran;
Malan, Valérie;
Doco‐Fenzy, Martine;
Vialard, François;
Douet-Guilbert, Nathalie;
Tabet, Anne-Claude;
Doco-Fenzy, Martine

Publication type:

journal article

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.

Published in:

Prenatal Diagnosis, 2008, v. 28, n. 1, p. 69, doi. 10.1002/pd.1911

By:

Quenum-Miraillet, Geneviève;
Malan, Valérie;
Martinovic, Jelena;
Encha-Razavi, Férechté;
Aral, Bernard;
Texier, Isabelle;
Bonnefont, Jean-Paul;
Vekemans, M.;
Morichon-Delvallez, Nicole

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 3, p. 231, doi. 10.1002/pd.1386

By:

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

Publication type:

Article

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935

By:

de Pontual, Loïc;
Mathieu, Yves;
Golzio, Christelle;
Rio, Marlène;
Malan, Valérie;
Boddaert, Nathalie;
Soufflet, Christine;
Picard, Capucine;
Durandy, Anne;
Dobbie, Angus;
Heron, Delphine;
Isidor, Bertrand;
Motte, Jacques;
Newburry-Ecob, Ruth;
Pasquier, Laurent;
Tardieu, Marc;
Viot, Géraldine;
Jaubert, Francis;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568

By:

Saugier-Veber, Pascale;
Bonnet, Céline;
Afenjar, Alexandra;
Drouin-Garraud, Valérie;
Coubes, Christine;
Fehrenbach, Séverine;
Holder-Espinasse, Muriel;
Roume, Joëlle;
Malan, Valérie;
Portnoi, Marie-France;
Jeanne, Nicolas;
Baumann, Clarisse;
Héron, Delphine;
David, Albert;
Gérard, Marion;
Bonneau, Dominique;
Lacombe, Didier;
Cormier-Daire, Valérie;
Billette de Villemeur, Thierry;
Frébourg, Thierry

Publication type:

Article

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.

Published in:

Nucleic Acids Research, 2021, v. 49, n. W1, p. W93, doi. 10.1093/nar/gkab347

By:

Requena, Francisco;
Abdallah, Hamza Hadj;
García, Alejandro;
Nitschké, Patrick;
Romana, Sergi;
Malan, Valérie;
Rausell, Antonio

Publication type:

Article

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

Published in:

Nucleic Acids Research, 2019, v. 47, n. 6, p. 2822, doi. 10.1093/nar/gkz005

By:

Dion, Camille;
Roche, Stéphane;
Laberthonnière, Camille;
Broucqsault, Natacha;
Mariot, Virginie;
Xue, Shifeng;
Gurzau, Alexandra D;
Nowak, Agnieszka;
Gordon, Christopher T;
Gaillard, Marie-Cécile;
El-Yazidi, Claire;
Thomas, Morgane;
Schlupp-Robaglia, Andrée;
Missirian, Chantal;
Malan, Valérie;
Ratbi, Liham;
Sefiani, Abdelaziz;
Wollnik, Bernd;
Binetruy, Bernard;
Salort Campana, Emmanuelle

Publication type:

Article

Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.

Published in:

2018

By:

Malan, Valérie;
Bussières, Laurence;
Winer, Norbert;
Jais, Jean-Philippe;
Baptiste, Amandine;
Le Lorc’h, Marc;
Elie, Caroline;
O’Gorman, Neil;
Fries, Nicolas;
Houfflin-Debarge, Véronique;
Sentilhes, Loic;
Vekemans, Michel;
Ville, Yves;
Salomon, Laurent J.;
Bussières, Laurence;
Le Lorc'h, Marc;
O'Gorman, Neil;
SAFE 21 Study Group

Publication type:

journal article

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1981, doi. 10.1002/ajmg.a.40375

By:

Nguyen, Huy Hoang;
Pham, Van Anh;
Barcia, Giulia;
Malan, Valérie;
Nguyen, Kiem Lien Thi;
Ngo, Diem Ngoc;
Nguyen, Thu Hien;
Landrieu, Pierre;
Colleaux, Laurence;
Nong, Van Hai;
Nguyen, Lam Son

Publication type:

Article

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1858, doi. 10.1002/ajmg.a.38275

By:

Jackson, Carolyn C.;
Lefèvre‐Utile, Alain;
Guimier, Anne;
Malan, Valérie;
Bruneau, Julie;
Gessain, Antoine;
Cassar, Olivier;
Amiel, Jeanne;
Cobat, Aurélie;
Rattina, Vimel;
Abel, Laurent;
Casanova, Jean‐Laurent;
Blanche, Stéphane

Publication type:

Article

First Fetal Case of the 8q24.3 Contiguous Genes Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 239, doi. 10.1002/ajmg.a.37411

By:

Wells, Constance;
Spaggiari, Emmanuel;
Malan, Valérie;
Stirnemann, Julien J.;
Attie‐Bitach, Tania;
Ville, Yves;
Vekemans, Michel;
Bessieres, Bettina;
Romana, Serge

Publication type:

Article

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384

By:

El Chehadeh, Salima;
Faivre, Laurence;
Mosca‐Boidron, Anne‐Laure;
Malan, Valérie;
Amiel, Jeanne;
Nizon, Mathilde;
Touraine, Renaud;
Prieur, Fabienne;
Pasquier, Laurent;
Callier, Patrick;
Lefebvre, Mathilde;
Marle, Nathalie;
Dubourg, Christèle;
Julia, Sophie;
Sarret, Catherine;
Francannet, Christine;
Laffargue, Fanny;
Boespflug‐Tanguy, Odile;
David, Albert;
Isidor, Bertrand

Publication type:

Article

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932

By:

El Khattabi, Laïla;
Jaillard, Sylvie;
Andrieux, Joris;
Pasquier, Laurent;
Perrin, Laurence;
Capri, Yline;
Benmansour, Abdelmadjid;
Toutain, Annick;
Marcorelles, Pascale;
Vincent‐Delorme, Catherine;
Journel, Hubert;
Henry, Catherine;
De Barace, Claire;
Devisme, Louise;
Dubourg, Christèle;
Demurger, Florence;
Lucas, Josette;
Belaud‐Rotureau, Marc‐Antoine;
Amiel, Jeanne;
Malan, Valérie

Publication type:

Article

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1797, doi. 10.1002/ajmg.a.36054

By:

Alby, Caroline;
Bessieres, Bettina;
Bieth, Eric;
Attie‐Bitach, Tania;
Fermont, Laurent;
Citony, Isabelle;
Razavi, Ferechté;
Vekemans, Michel;
Escande, Fabienne;
Manouvrier, Sylvie;
Malan, Valérie;
Amiel, Jeanne

Publication type:

Article

Xq25 duplications encompassing GRIA 3 and STAG 2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1370, doi. 10.1002/ajmg.a.35307

By:

Philippe, Anne;
Malan, Valérie;
Jacquemont, Marie‐Line;
Boddaert, Nathalie;
Bonnefont, Jean‐Paul;
Odent, Sylvie;
Munnich, Arnold;
Colleaux, Laurence;
Cormier‐Daire, Valérie

Publication type:

Article

Vingt ans de consultations de génétique clinique sur site dans les hôpitaux de jour pour les personnes atteintes de troubles du spectre autistique de la région parisienne.

Published in:

Médecine Sciences, 2019, v. 35, n. 11, p. 843, doi. 10.1051/medsci/2019170

By:

Munnich, Arnold;
Demily, Caroline;
Frugère, Lisa;
Duwime, Charlyne;
Malan, Valérie;
Barcia, Giulia;
Vidal, Céline;
Throo, Émeline;
Besmond, Claude;
Hubert, Laurence;
Roland-Manuel, Gilles;
Malen, Jean-Pierre;
Ferreri, Mélanie;
Hanein, Sylvain;
Boddaert, Nathalie;
Assouline, Moise

Publication type:

Article

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report.

Published in:

Human Reproduction, 2007, v. 22, n. 4, p. 1037, doi. 10.1093/humrep/del480

By:

Valérie Malan;
R. Gesny;
N. Morichon-Delvallez;
M.C. Aubry;
A. Benachi;
D. Sanlaville;
C. Turleau;
J.P. Bonnefont;
C. Fekete-Nihoul;
M. Vekemans

Publication type:

Article

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Published in:

Prenatal Diagnosis, 2023, v. 43, n. 6, p. 734, doi. 10.1002/pd.6340

By:

Courdier, Cécile;
Boudjarane, John;
Malan, Valérie;
Muti, Christine;
Sperelakis‐Beedham, Brian;
Odent, Sylvie;
Jaillard, Sylvie;
Quelin, Chloé;
Le Caignec, Cédric;
Patat, Olivier;
Dubucs, Charlotte;
Julia, Sophie;
Schluth‐Bolard, Caroline;
Goumy, Carole;
Redon, Sylvia;
Gaillard, Jean‐Baptiste;
Huynh, Minh Tuan;
Dupont, Céline;
Tabet, Anne‐Claude;
Cogan, Guillaume

Publication type:

Article

Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.

Published in:

Molecular Autism, 2025, v. 16, n. 1, p. 1, doi. 10.1186/s13229-025-00642-8

By:

Ormieres, Clothilde;
Lesieur-Sebellin, Marion;
Siquier-Pernet, Karine;
Delplancq, Geoffroy;
Rio, Marlene;
Parisot, Mélanie;
Nitschké, Patrick;
Rodriguez-Fontenla, Cristina;
Bodineau, Alison;
Narcy, Lucie;
Schlumberger, Emilie;
Cantagrel, Vincent;
Malan, Valérie

Publication type:

Article

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.

Published in:

Birth Defects Research, 2023, v. 115, n. 5, p. 563, doi. 10.1002/bdr2.2141

By:

Lajmi, Yosra;
Loeuillet, Laurence;
Petrilli, Giulia;
Egloff, Charles;
Nectoux, Juliette;
Molac, Clémence;
Roux, Nathalie;
Pannier, Emmanuelle;
Achaiaa, Amale;
Arkoub, Zaina Ait;
Chuon, Sophie;
Coussement, Aurélie;
Dupont, Jean Michel;
Malan, Valérie;
Spaggiari, Emmanuel;
Razavi, Ferechte;
Amiel, Jeanne;
Bessières, Bettina;
Grotto, Sarah;
Attié‐Bitach, Tania

Publication type:

Article

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1114

By:

Uguen, Kévin;
Jubin, Claire;
Duffourd, Yannis;
Bardel, Claire;
Malan, Valérie;
Dupont, Jean‐Michel;
El Khattabi, Laila;
Chatron, Nicolas;
Vitobello, Antonio;
Rollat‐Farnier, Pierre‐Antoine;
Baulard, Céline;
Lelorch, Marc;
Leduc, Aurélie;
Tisserant, Emilie;
Tran Mau‐Them, Frédéric;
Danjean, Vincent;
Delepine, Marc;
Till, Marianne;
Meyer, Vincent;
Lyonnet, Stanislas

Publication type:

Article