المؤلفون: Dupont, Céline, Baumann, Clarisse, Le Du, Nathalie, Schaefer, Elise, Guimiot, Fabien, Boutaud, Lucile, Capri, Yline, Spaggiari, Emmanuel, Aboura, Azzedine, Benzacken, Brigitte, Tabet, Anne‐Claude

المصدر: American Journal of Medical Genetics Part A ; volume 161, issue 10, page 2663-2665 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.36081Test

المؤلفون: Lamb, Allen N, Rosenfeld, Jill A, Neill, Nicholas J, Talkowski, Michael E, Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia I, Rosenbaum, Kenneth, Vallee, Stephanie E, Moeschler, John B, Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C, Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M, Opheim, Kent E, Descartes, Maria, Eichler, Evan E, Morton, Cynthia C, Gusella, James F, Schultz, Roger A, Ballif, Blake C, Shaffer, Lisa G

المصدر: Lamb , A N , Rosenfeld , J A , Neill , N J , Talkowski , M E , Blumenthal , I , Girirajan , S , Keelean-Fuller , D , Fan , Z , Pouncey , J , Stevens , C , Mackay-Loder , L , Terespolsky , D , Bader , P I , Rosenbaum , K , Vallee , S E , Moeschler , J B , Ladda , R , Sell , S , Martin , J , Ryan , S , Jones , M C , Moran , R , Shealy , A ....

الإتاحة: https://doi.org/10.1002/humu.22037Test
https://research.manchester.ac.uk/en/publications/1cd73afc-caaf-42ba-b8e6-1a3408cee3d3Test

المؤلفون: Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia I., Rosenbaum, Kenneth, Vallee, Stephanie E., Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain

المصدر: Human Mutation, 33(4)

مصطلحات موضوعية: Male, Human, Article, Language Development Disorders, Developmental Disabilities, Haploinsufficiency, Preschool, Body Dysmorphic Disorders, Female, Adult, Mental Disorders, Pair 12, Adolescent, SOXD Transcription Factors, Chromosomes, Case-Control Studies, Humans, Child, psy, socio

العلاقة: https://doi.org/10.17615/acnn-yv48Test

الإتاحة: https://doi.org/10.17615/acnn-yv48Test

المؤلفون: Delahaye, Andrée, Khung-Savatovsky, Suonavy, Aboura, Azzedine, Guimiot, Fabien, Drunat, Séverine, Alessandri, Jean-Luc, Gérard, Marion, Bitoun, Pierre, Boumendil, Julien, Robin, Stéphanie, Huel, Chan, Guilherme, Romain, Serero, Stéphane, Gressens, Pierre, Elion, Jacques, Verloes, Alain, Benzacken, Brigitte, Delezoide, Anne-Lise, Pipiras, Eva

المصدر: Delahaye , A , Khung-Savatovsky , S , Aboura , A , Guimiot , F , Drunat , S , Alessandri , J-L , Gérard , M , Bitoun , P , Boumendil , J , Robin , S , Huel , C , Guilherme , R , Serero , S , Gressens , P , Elion , J , Verloes , A , Benzacken , B , Delezoide , A-L & Pipiras , E 2012 , ' Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene ' , American Journal of Medical Genetics. Part A , ....

مصطلحات موضوعية: Adult, Anterior Eye Segment, Cerebellar Diseases, Child, Preschool, Chromosomes, Human, Pair 6, Comparative Genomic Hybridization, Dandy-Walker Syndrome, Eye Abnormalities, Female, Fetus, Forkhead Transcription Factors, Gene Deletion, Humans, In Situ Hybridization, Fluorescence, Male, Phenotype, Pregnancy

الإتاحة: https://doi.org/10.1002/ajmg.a.35548Test
https://kclpure.kcl.ac.uk/portal/en/publications/129ab57e-e869-44f6-aebf-6dff88be1d81Test

المؤلفون: Rambaud, Jérôme, Marey, Isabelle, Dupont, Céline, Perrin‐Sabourin, Laurence, Capri, Yline, Tabet, Anne Claude, Benzacken, Brigitte, Verloes, Alain, Aboura, Azzedine, Gérard, Marion

المصدر: American Journal of Medical Genetics Part A ; volume 158A, issue 9, page 2277-2282 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.35494Test

المؤلفون: Delahaye, Andrée, Pipiras, Eva, Benzacken, Brigitte

المصدر: Expert Review of Molecular Diagnostics ; volume 12, issue 5, page 425-427 ; ISSN 1473-7159 1744-8352

الإتاحة: https://doi.org/10.1586/erm.12.41Test

المؤلفون: Jaillard, Sylvie, Drunat, Séverine, Bendavid, Claude, Aboura, Azzedine, Etcheverry, Amandine, Journel, Hubert, Delahaye, Andrée, Pasquier, Laurent, Bonneau, Dominique, Toutain, Annick, Burglen, Lydie, Guichet, Agnès, Pipiras, Eva, Gilbert-Dussardier, Brigitte, Benzacken, Brigitte, Martin-Coignard, Dominique, Henry, Catherine, David, Albert, Lucas, Josette, Mosser, Jean, David, Véronique, Odent, Sylvie, Verloes, Alain, Dubourg, Christèle

المساهمون: Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biochimie Génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Département de génétique, Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Service Histologie-embryologie-cytogénétique, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -hôpital Sud, Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de génétique Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique CHU Poitiers, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Service de génétique, Centre Hospitalier Le Mans (CH Le Mans), Laboratoire de génétique moléculaire et génomique médicale CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Unité fonctionnelle de génétique clinique

المصدر: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://inserm.hal.science/inserm-00434932Test ; European Journal of Medical Genetics, 2010, 53 (2), pp.66-75. ⟨10.1016/j.ejmg.2009.10.002⟩.

مصطلحات موضوعية: MESH: Chromosome Mapping, MESH: Comparative Genomic Hybridization, MESH: Male, MESH: Mental Retardation, MESH: Oligonucleotide Array Sequence Analysis, MESH: Oligonucleotides, MESH: Reproducibility of Results, MESH: Syndrome, MESH: Facies, MESH: Female, MESH: France, MESH: Gene Dosage, MESH: Genetic Variation, MESH: Genome, Human, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, [SDV.BDD]Life Sciences [q-bio]/Development Biology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19878743; inserm-00434932; https://inserm.hal.science/inserm-00434932Test; PUBMED: 19878743

الإتاحة: https://doi.org/10.1016/j.ejmg.2009.10.002Test
https://inserm.hal.science/inserm-00434932Test

المؤلفون: Sermondade, Nathalie, Hugues, Jean-Noël, Cedrin-Durnerin, Isabelle, Poncelet, Christophe, Benzacken, Brigitte, Lévy, Rachel, Sifer, Christophe

المصدر: Fertility and Sterility ; volume 94, issue 3, page 1157-1158 ; ISSN 0015-0282

مصطلحات موضوعية: Obstetrics and Gynecology, Reproductive Medicine

الإتاحة: https://doi.org/10.1016/j.fertnstert.2009.12.001Test
https://api.elsevier.com/content/article/PII:S0015028209041351?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0015028209041351?httpAccept=text/plainTest

المؤلفون: Schiff, Manuel, Delahaye, Andrée, Andrieux, Joris, Sanlaville, Damien, Vincent-Delorme, Catherine, Aboura, Azzedine, Benzacken, Brigitte, Bouquillon, Sonia, Elmaleh-Berges, Monique, Labalme, Audrey, Passemard, Sandrine, Perrin, Laurence, Manouvrier-Hanu, Sylvie, Edery, Patrick, Verloes, Alain, Drunat, Séverine

المصدر: European Journal of Medical Genetics ; volume 53, issue 5, page 303-308 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2010.06.009Test
https://api.elsevier.com/content/article/PII:S1769721210000649?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721210000649?httpAccept=text/plainTest

المؤلفون: Moran, Rocio, Sell, Susan, Stevens, Cathy, Terespolsky, Deborah, Ryan, Shawnia, Fan, Zheng, Girirajan, Santhosh, Moeschler, John B., Passemard, Sandrine, Blumenthal, Ian, Verloes, Alain, Neill, Nicholas J., Mackay-Loder, Loren, Martin, Judith, Vallee, Stephanie E., Rosenfeld, Jill A., Shealy, Amy, Heron-Longe, Bénédicte, Rosenbaum, Kenneth, Benzacken, Brigitte, Bader, Patricia I., Keelean-Fuller, Debra, Jones, Marilyn C., Surti, Urvashi, Delahaye, Andrée, Ladda, Roger, Talkowski, Michael E., Pouncey, Jill, Madan-Khetarpal, Suneeta, Pipiras, Eva, Lamb, Allen N., McConnell, Juliann

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a65ac51b50fd8d224cb0832510ec7dfTest