المؤلفون: Cécile Masson, Arnaud Molin, Clarisse Billon, Agnès Liard, Lucile Boutaud, Sabine Sigaudy, Sophie Thomas, Eglantine Magnin, Radia Fritih, Valérie Layet, Maryse Bonnière, Yves Ville, Alix Clemenson, Alain Diguet, Philippe Roth, Coralie Dauge, Sophie Patrier, John Rendu, Julia Tantau, Bettina Bessières, Alice Goldenberg, Leila Hakkakian, Céline Poirsier, Tania Attié-Bitach, Ferechté Razavi, Clémence Fleury, Eric Verspyck, Nadia Elkhartoufi, Maude Grelet, Amale Achaiaa, Fabienne Prieur, Christine Bole-Feysot, Aude Tessier

المصدر: Clinical Genetics. 98:261-273

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Myosin Light Chains, Colon, Urinary Bladder, Nerve Tissue Proteins, 030105 genetics & heredity, Biology, Compound heterozygosity, 03 medical and health sciences, Exome Sequencing, Fetal megacystis, Genetics, MYH11, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Gene, Genetics (clinical), Exome sequencing, Myosin Heavy Chains, Homozygote, Intestinal Pseudo-Obstruction, Infant, Newborn, MYLK, Microcolon, Actins, Pedigree, 030104 developmental biology, Aborted Fetus, Mutation, Female, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b785fb90b76ae17b0c8d7bcf43e09a93Test
https://doi.org/10.1111/cge.13801Test

المؤلفون: Maryse Bonnière, Philippe Roth, Michel Vekemans, Frédéric Brioude, Delphine Héron, Bettina Bessières, Aurélie Beaufrère, Irène Netchine, Julia Tantau, Antoinette Gelot, Elodie Schaerer, Ferechté Razavi, Tania Attié-Bitach

المصدر: Fetal and Pediatric Pathology. 37:411-417

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Fetus, Beckwith-Wiedemann Syndrome, business.industry, Beckwith–Wiedemann syndrome, General Medicine, Anatomy, Corpus callosum, medicine.disease, Pathology and Forensic Medicine, body regions, 03 medical and health sciences, 030104 developmental biology, Posterior fossa malformations, Overgrowth syndrome, Pediatrics, Perinatology and Child Health, Humans, Medicine, Femur, Agenesis of Corpus Callosum, business, Short femur

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a41780261c6ff5a67238b69aca4a7cTest
https://doi.org/10.1080/15513815.2018.1520942Test

المؤلفون: Brigitte Leroy, Homa Adle-Biassette, Frédéric Causeret, Houria Salhi, Jelena Martinovic, Bettina Bessières, Selima Ben Miled, Férechté Encha-Razavi, Yoann Saillour, Julie Bruneau, Syril James, Jean-Paul Duong Van Huyen, Laurence Loeuillet, Julien Stirnemann, Maryse Bonnière-Darcy, Amel Sekour, Yves Ville, Aude Tessier, Tania Attié-Bitach, Julia Tantau

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris Descartes - Paris 5 (UPD5), Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Hôpital Lariboisière-Fernand-Widal [APHP], Université Paris Diderot - Paris 7 (UPD7), Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), CCSD, Accord Elsevier, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy]

المصدر: American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩
American Journal of Obstetrics and Gynecology, Elsevier, 2020, 223, pp.256.e1-256.e9. ⟨10.1016/j.ajog.2020.02.052⟩

مصطلحات موضوعية: medicine.medical_treatment, [SDV]Life Sciences [q-bio], myelomeningocele, motor neurons loss, Neurosurgical Procedures, 0302 clinical medicine, Pregnancy, autopsies, Spinal cord injury, pathophysiology, Motor Neurons, Fetal Therapies, fetal surgery, Lumbar Vertebrae, motor function, Obstetrics and Gynecology, Gestational age, Arnold-Chiari Malformation, 3. Good health, spina bifida, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, Spinal Cord, natural history, Pregnancy Trimester, Second, 030220 oncology & carcinogenesis, Anesthesia, Disease Progression, Female, Autopsy, medicine.symptom, Sacrum, Meningomyelocele, Cord, Gestational Age, Thoracic Vertebrae, Lesion, 03 medical and health sciences, medicine, Humans, Retrospective Studies, Fetal surgery, business.industry, Spina bifida, Abortion, Induced, medicine.disease, Spinal cord, timing of spinal cord injury fetal repair, Pregnancy Trimester, First, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d88cfe29c8313ae4f6919f00a2d58a4Test
https://hal.science/hal-03492427Test

المؤلفون: Daniel Pouly, Laurence Loeuillet, Joelle Roume, Xianghong Shan, Sophie Saunier, Alexandre Benmerah, Marion Failler, Marijn Stokman, Brigitte Leroy, Jelena Martinovic, Mohammadjavad Paydar, Isabel Filges, Virginie Magry, Marine Alves, Cheryl Y. Gregory-Evans, Benjamin H. Kwok, Marion Delous, John S. Allingham, Madeline Louise Reilly, Julia Tantau, Jacqueline R. Hellinga, Rachel H. Giles, Cécile Jeanpierre

المساهمون: Laboratoire des Maladies Rénales Héréditaires, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7), Utrecht University [Utrecht], Institut de Recherche en Immunologie et en Cancérologie [UdeM-Montréal] (IRIC), Université de Montréal (UdeM), Queen's University [Kingston, Canada], Service de foetopathologie [Béclère], Université Paris-Sud - Paris 11 (UP11)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Stéroides et système nerveux : physiopathologie moléculaire et clinique, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Anatomie et de Cytologie Pathologiques [Poissy], CHI Poissy-Saint-Germain, Service de génétique [Poissy], University of British Columbia (UBC), University of Basel (Unibas), University Medical Center [Utrecht], This work was supported by the Fondation pour la Recherche Médicale (DEQ20130326532 to SS), the European Union’sSeventh Framework Programme (FP7/2007–2013) grant 305608 (EURenOmics, CJ), the GIS-Institut desMaladies Rares (AMA11025KSA to CJ and SS), the CIHR, NSERC, CCSRI, and FRQS (BK), the SwissNational Science Foundation (SNSF, IF), the Dutch Kidney Foundation KOUNCIL consortium(CP11.18). The Imagine Institute is supported by an ANR grant (ANR-A0-IAHU-01)., European Project: 305608,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,EURENOMICS(2012), Université Paris-Sud - Paris 11 (UP11)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Benmerah, Alexandre, European Consortium for High-Throughput Research in Rare Kidney Diseases - EURENOMICS - - EC:FP7:HEALTH2012-10-01 - 2017-09-30 - 305608 - VALID

المصدر: Human Molecular Genetics
Human Molecular Genetics, 2019, 28 (5), pp.778-795. ⟨10.1093/hmg/ddy381⟩
Human Molecular Genetics, Oxford University Press (OUP), 2019, 28 (5), pp.778-795. ⟨10.1093/hmg/ddy381⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Fluorescent Antibody Technique, Kinesins, [SDV.GEN] Life Sciences [q-bio]/Genetics, Kidney, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Ciliopathies, 0302 clinical medicine, Loss of Function Mutation, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Zebrafish, Genetics (clinical), Oncogene Proteins, biology, Cilium, General Medicine, Cell biology, Pedigree, Midbody, Phenotype, Female, Kidney Diseases, General Article, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Congenital Abnormalities, 03 medical and health sciences, Structure-Activity Relationship, Ciliogenesis, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Molecular Biology, Genetic Association Studies, Cytokinesis, [SDV.GEN]Life Sciences [q-bio]/Genetics, Kidney metabolism, medicine.disease, biology.organism_classification, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Disease Models, Animal, 030104 developmental biology, Genetic Loci, Genes, Lethal, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a42231d87fe88cb5c13ed0010147197Test
https://pubmed.ncbi.nlm.nih.gov/30388224Test

المؤلفون: Marie-Paule Beaujard, A. Carrier, Jeanne Amiel, Valérie Malan, S. Fontaine, M.C. de Blois, Catherine Turleau, Mathilde Nizon, Julia Tantau, Michel Vekemans, Caroline Michot, Yves Ville, Jean-Pierre Bernard, Tania Attié-Bitach, M. Essaoui

المصدر: European Journal of Medical Genetics. 56:502-505

مصطلحات موضوعية: Adult, medicine.medical_specialty, Amniotic fluid, Genetic counseling, Intrauterine growth restriction, Chromosome Disorders, Prenatal diagnosis, Biology, Umbilical cord, Andrology, Pregnancy, Prenatal Diagnosis, Internal medicine, Diseases in Twins, Genetics, medicine, Humans, Genetics (clinical), Comparative Genomic Hybridization, Fetus, Fetal Growth Retardation, Mosaicism, Karyotype, Twins, Monozygotic, General Medicine, Amniotic Fluid, medicine.disease, Cleft Palate, Phenotype, Endocrinology, medicine.anatomical_structure, Gestation, Female, Chromosome Deletion, Chromosomes, Human, Pair 18, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70892463e572c77e7be236d31cae0c40Test
https://doi.org/10.1016/j.ejmg.2013.06.007Test

المؤلفون: S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi

المساهمون: IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, Attie-Bitach, T

المصدر: International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239Test
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.

مصطلحات موضوعية: Liver Cirrhosis, 2716 Genetics (clinical), meckelin, Ciliopathies, Joubert syndrome, Genotype, congenital hepatic fibrosis, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67, TMEM67, Meckel syndrome, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, MKS3, COACH syndrome, Article, NO, 1311 Genetics, Nephronophthisis, Pregnancy, Prenatal Diagnosis, Genetics, medicine, COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Cilium, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, 10036 Medical Clinic, Female

وصف الملف: ELETTRONICO; IannicelliM,_2010.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcfTest
https://doi.org/10.1002/humu.21239Test

المؤلفون: Michel Vekemans, Vardiella Meiner, Sophie Saunier, Marie Gonzales, Karen Meir, Martine Sinico, Françoise Menez, Colin A. Johnson, Fiona Macdonald, Christine Francannet, Emmanuelle Génin, Philippe Parent, Julia Tantau, Sophie Audollent, Claude Moraine, Sivanthiny Sivanandamoorthy, Catherine Ozilou, Marie-Christine Dauge, Rémi Salomon, Férechté Encha-Razavi, Martine Le Merrer, Chantal Esculpavit, Pascale Marcorelles, Eleanor Rattenberry, Arnold Munnich, Jelena Martinovic, Yves Dumez, Joelle Roume, Stanislas Lyonnet, Tania Attié-Bitach, Annick Toutain, Lekbir Baala, Marie-Claire Gubler, Anne-Marie Beaufrère, Marie-Claude Babron

المصدر: The American Journal of Human Genetics. 81(1):170-179

مصطلحات موضوعية: Male, TMEM67, DNA Mutational Analysis, Locus (genetics), Cell Cycle Proteins, Biology, Compound heterozygosity, Joubert syndrome, 03 medical and health sciences, Antigens, Neoplasm, Report, medicine, Genetics, Humans, Abnormalities, Multiple, Multicystic Dysplastic Kidney, Genetics(clinical), Meckel syndrome, Genetics (clinical), 030304 developmental biology, Meckel-Gruber Syndrome, 0303 health sciences, Polydactyly, urogenital system, 030305 genetics & heredity, Brain, Syndrome, medicine.disease, 3. Good health, Neoplasm Proteins, Pedigree, Cytoskeletal Proteins, Portal System, Haplotypes, Liver, RPGRIP1L, Mutation, Female, Lod Score

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad7c7dde70119773fac68e9c6268338dTest

المؤلفون: Gilles Grangé, Julia Tantau, Géraldine Viot, Dominique Cabrol, N. Acuna, F. Narcy

المصدر: Journal de Gynécologie Obstétrique et Biologie de la Reproduction. 35:477-482

مصطلحات موضوعية: Down syndrome, Fetus, Pediatrics, medicine.medical_specialty, Pregnancy, Lung, business.industry, Genetic counseling, Incidence (epidemiology), Obstetrics and Gynecology, Autopsy, General Medicine, Abortion, medicine.disease, medicine.anatomical_structure, Reproductive Medicine, Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aaba0b28f7bebbb4d700da0ba7b3fde7Test
https://doi.org/10.1016/s0368-2315Test(06)76420-1

المؤلفون: Géraldine Goudefroye, Marie-Odile Peter, Philippe Loget, Heather C. Etchevers, Dominique Gaillard, Houda Karmous-Benailly, Marie Gonzales, Madeleine Joubert, Ghislaine Plessis, Martine Le Merrer, Férechté Encha-Razavi, Marie-Claire Gubler, Joelle Augé, Chantal Esculpavit, Nora Brahimi, Eric Detrait, Catherine Ozilou, Yoann Sirot, Tania Attié-Bitach, B. Simon-Bouy, Michel Vekemans, Julia Tantau, Hélène Dollfus, Arnold Munnich, Sophie Audollent, Laure Clech, Jelena Martinovic, Corinne Jeanne-Pasquier, Anne-Lise Delezoide

المصدر: The American Journal of Human Genetics. 76(3):493-504

مصطلحات موضوعية: Male, BBS2, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, BBS1, Heart malformation, DNA Mutational Analysis, BBS5, Kidney, Diagnosis, Differential, Fetus, Bardet–Biedl syndrome, Pregnancy, Prenatal Diagnosis, Internal medicine, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics(clinical), Meckel syndrome, Bardet-Biedl Syndrome, Genetics (clinical), Encephalocele, Cystic kidney, Base Sequence, Polydactyly, business.industry, Infant, Newborn, Articles, Syndrome, medicine.disease, Pedigree, Endocrinology, Liver, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f58759603e79054f41f01213c9baf092Test

المؤلفون: Frédéric Chadeyron, I. Simon, Géraldine Viot, B. Simon-Bouy, Pascale Sonigo, Arnold Munnich, Chantal Esculpavit, Jelena Martinovic, Francis Brunelle, Férechté Encha-Razavi, Michel Vekemans, Cherif Beldjord, Julia Tantau

المصدر: American Journal of Medical Genetics. :123-128

مصطلحات موضوعية: Doublecortin Domain Proteins, Male, Heterozygote, Doublecortin Protein, Mutation, Missense, Lissencephaly, Neocortex, Biology, medicine.disease_cause, Type I lissencephaly, Fetus, Gene mapping, Cortex (anatomy), medicine, Humans, Histidine, Amnion, Lymphocytes, Cells, Cultured, Genetics (clinical), Neurons, Chromosomes, Human, X, Mutation, Homozygote, Neuropeptides, Brain, Abortion, Induced, Anatomy, medicine.disease, Chromosome Banding, Doublecortin, Corticogenesis, medicine.anatomical_structure, Amino Acid Substitution, Karyotyping, 1-Alkyl-2-acetylglycerophosphocholine Esterase, biology.protein, Microtubule-Associated Proteins, Neuroscience, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7eb18d1e2a5b364ad7049689e7c0a1aTest
https://doi.org/10.1002/ajmg.a.20569Test